Publications

Riedhammer KM, Nguyen TT, Kosukcu C, Calzada-Wack J, Li Y, Batzir NA, Saygili S, Wimmers V, Kim GJ, Chrysanthou M, Bakey Z, Sofrin-Drucker E, Kraiger M, Sanz-Moreno A, Amarie OV, Rathkolb B, Klein-Rodewald T, Garrett L, Hölter SM, Seisenberger C, Haug S, Schlosser P, Marschall S, Wurst W, Fuchs H, Gailus-Durner V, Wuttke M, de Angelis MH, ?omi? J, Do?an ÖA, Özlük Y, Ta?demir M, A?ba? A, Canpolat N, Orenstein N, Çal??kan S, Weber RG, Bergmann C, Jeanpierre C, Saunier S, Lim TY, Hildebrandt F, Alhaddad B, Basel-Salmon L, Borovitz Y, Wu K, Antony D, Matschkal J, Schaaf CW, Renders L, Schmaderer C, Rogg M, Schell C, Meitinger T, Heemann U, Köttgen A, Arnold SJ, Ozaltin F, Schmidts M, Hoefele J. (2024) Implication of transcription factor FOXD2 dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT). Kidney Int, doi: 10.1016/j.kint.2023.11.032. Epub ahead of print.
Mekahli D, Müller RU, Marlais M, Wlodkowski T, Haeberle S, de Argumedo ML, Bergmann C, Breysem L, Fladrowski C, Henske EP, Janssens P, Jouret F, Kingswood JC, Lattouf JB, Lilien M, Maleux G, Rozenberg M, Siemer S, Devuyst O, Schaefer F, Kwiatkowski DJ, Rouvière O, Bissler J. (2024) Clinical practice recommendations for kidney involvement in tuberous sclerosis complex: a consensus statement by the ERKNet Working Group for Autosomal Dominant Structural Kidney Disorders and the ERA Genes & Kidney Working Group. Nat Rev Nephrol, doi: 10.1038/s41581-024-00818-0. Epub ahead of print.
Schlevogt B, Schlieper V, Krader J, Schröter R, Wagner T, Weiand M, Zibert A, Schmidt HH, Bergmann C, Nedvetsky PI, Krahn MP. (2023) A SEC61A1 variant is associated with autosomal dominant polycystic liver disease. Liver Int, doi: 10.1111/liv.15493.
Ott E, Hoff S, Indorf L, Ditengou FA, Müller J, Renschler G, Lienkamp SS, Kramer-Zucker A, Bergmann C, Epting D. (2023) A novel role for the chloride intracellular channel protein Clic5 in ciliary function. Sci Rep, doi: 10.1038/s41598-023-44235-y.
Riedmann H, Kayser S, Helmstädter M, Epting D, Bergmann C. (2023) Kif21a deficiency leads to impaired glomerular filtration barrier function. Sci Rep, doi: 10.1038/s41598-023-46270-1.
Fiedler J, Moennig T, Hinrichs JH, Weber A, Wagner T, Hemmer T, Schröter R, Weide T, Epting D, Bergmann C, Nedvetsky P, Krahn MP. (2023) ATJ inhibits histone deacetylase 7 to control tight junction formation and cell polarity. Cell Mol Life Sci, doi: 10.1007/s00018-023-04994-3.
Mohamed M, Tellez J, Bergmann C, Gale DP, Sayer JA, Olinger E. (2022) Pseudodominant Alport syndrome caused by pathogenic homozygous and compound heterozygous COL4A3 splicing variants. Ann Hum Genet, doi: 10.1111/ahg.12454.
Koehler S, Odenthal J, Ludwig V, Unnersjö Jess D, Höhne M, Jüngst C, Grawe F, Helmstädter M, Janku JL, Bergmann C, Hoyer PF, Hagmann HH, Walz G, Bloch W, Niessen C, Schermer B, Wodarz A, Denholm B, Benzing T, Iden S, Brinkkoetter PT. (2022) Scaffold polarity proteins Par3A and Par3B share redundant functions while Par3B acts independent of atypical protein kinase C/Par6 in podocytes to maintain the kidney filtration barrier. Kidney Int, doi: 10.1016/j.kint.2021.11.030.
Knoers N, Antignac C, Bergmann C, Dahan K, Giglio S, Heidet L, Lipska-Zietkiewicz BS, Noris M, Remuzzi G, Vargas-Poussou R, Schaefer F. (2022) Genetic testing in the diagnosis of chronic kidney disease: recommendations for clinical practice. Nephrol Dial Transplant, doi: 10.1093/ndt/gfab218.
Gimpel C, Bergmann C, Mekahli D. (2022) The wind of change in the management of autosomal dominant polycystic kidney disease in childhood. Pediatr Nephrol, doi: 10.1007/s00467-021-04974-4.
Viering D, Schlingmann KP, Hureaux M, Nijenhuis T, Mallett A, Chan MMY, van Beek A, van Eerde AM, Coulibaly JM, Vallet M, Decramer S, Pelletier S, Klaus G, Kömhoff M, Beetz R, Patel C, Shenoy M, Steenbergen EJ, Anderson G, Bongers EMHF, Bergmann C, Panneman D, Rodenburg RJ, Kleta R, Houillier P, Konrad M, Vargas-Poussou R, Knoers NVAM, Bockenhauer D, de Baaij JHF; Genomics England Research Consortium. (2022) Gitelman-Like Syndrome Caused by Pathogenic Variants in mtDNA. J Am Soc Nephrol, doi: 10.1681/ASN.2021050596.
Aypek H, Krisp C, Lu S, Liu S, Kylies D, Kretz O, Wu G, Moritz M, Amann K, Benz K, Tong P, Hu ZM, Alsulaiman SM, Khan AO, Grohmann M, Wagner T, Müller-Deile J, Schlüter H, Puelles VG, Bergmann C, Huber TB, Grahammer F. (2022) Loss of the collagen IV modifier prolyl 3-hydroxylase 2 causes thin basement membrane nephropathy. J Clin Invest, doi: 10.1172/JCI147253.
Hertz JM, Svenningsen P, Dimke H, Engelund MB, Nørgaard H, Hansen A, Marcussen N, Thiesson HC, Bergmann C, Larsen MJ. (2022) Detection of DZIP1L mutations by whole-exome sequencing in consanguineous families with polycystic kidney disease. Pediatr Nephrol, doi: 10.1007/s00467-022-05441-4.
Devane J, Ott E, Olinger EG, Epting D, Decker E, Friedrich A, Bachmann N, Renschler G, Eisenberger T, Briem-Richter A, Grabhorn EF, Powell L, Wilson IJ, Rice SJ, Miles CG, Wood K; Genomics England Research Consortium, Trivedi P, Hirschfield G, Pietrobattista A, Wohler E, Mezina A, Sobreira N, Agolini E, Maggiore G, Dahmer-Heath M, Yilmaz A, Boerries M, Metzger P, Schell C, Grünewald I, Konrad M, König J, Schlevogt B, Sayer JA, Bergmann C. (2022) Progressive liver, kidney, and heart degeneration in children and adults affected by TULP3 mutations. Am J Hum Genet, doi: 10.1016/j.ajhg.2022.03.015.
Gimpel C, Bergmann C, Mekahli D. (2022) Correction to: The wind of change in the management of autosomal dominant polycystic kidney disease in childhood. Pediatr Nephrol, doi: 10.1007/s00467-021-05207-4. Erratum for: Pediatr Nephrol. 2022 Mar;37(3):473-487. PMID: 34426882.
Ziegler WH, Lüdiger S, Hassan F, Georgiadis ME, Swolana K, Khera A, Mertens A, Franke D, Wohlgemuth K, Dahmer-Heath M, König J, Dafinger C, Liebau MC, Cetiner M, Bergmann C, Soetje B, Haffner D. (2022) Primary URECs: a source to better understand the pathology of renal tubular epithelia in pediatric hereditary cystic kidney diseases. Orphanet J Rare Dis, doi: 10.1186/s13023-022-02265-1.
Boeckhaus J, Hoefele J, Riedhammer KM, Nagel M, Beck B, Choi M, Gollasch M, Bergmann C, Sonntag JE, Troesch V, Stock J, Gross O. (2022) Lifelong Effect of Therapy in Young Patients with the COL4A5 Alport Missense Variant p.(Gly624Asp): a Prospective Cohort Study. Nephrol Dial Transplant, doi: 10.1093/ndt/gfac006.
Münch J, Engesser M, Schönauer R, Hamm JA, Hartig C, Hantmann E, Akay G, Pehlivan D, Mitani T, Coban Akdemir Z, Tüysüz B, Shirakawa T, Dateki S, Claus LR, van Eerde AM; Genomics England Research Consortium, Smol T, Devisme L, Franquet H, Attié-Bitach T, Wagner T, Bergmann C, Höhn AK, Shril S, Pollack A, Wenger T, Scott AA, Paolucci S, Buchan J, Gabriel GC, Posey JE, Lupski JR, Petit F, McCarthy AA, Pazour GJ, Lo CW, Popp B, Halbritter J. (2022) Biallelic pathogenic variants in roundabout guidance receptor 1 associate with syndromic congenital anomalies of the kidney and urinary tract. Kidney Int, doi: 10.1016/j.kint.2022.01.028.
Epting D, Decker E, Ott E, Eisenberger T, Bader I, Bachmann N, Bergmann C. (2022) The ciliary transition zone protein TMEM218 synergistically interacts with the NPHP module and its reduced dosage leads to a wide range of syndromic ciliopathies. Hum Mol Genet, doi: 10.1093/hmg/ddac027.
Bedin M, Boyer O, Servais A, Li Y, Villoing-Gaudé L, ..., Köttgen A, Andersen CBF, Bergmann C, Antignac C, Simons M. (2022) Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function. J Clin Invest, doi: 10.1172/JCI161852. Erratum for: J Clin Invest. 2020 Jan 2;130(1):335-344. PMID: 35642643; PMCID: PMC9151686.
Choi M, Rübsam A, Schulz M, Decker E, Friedrich A, Schrezenmeier E, Halleck F, Eckardt KU, Bergmann C. (2022) Interstitial Nephritis: A Change in Diagnosis With Next-Generation Sequencing. Kidney Int Rep, doi: 10.1016/j.ekir.2022.01.1061.
König JC, Karsay R, Gerß J, Schlingmann KP, Dahmer-Heath M, Telgmann AK, Kollmann S, Ariceta G, Gillion V, Bockenhauer D, Bertholet-Thomas A, Mastrangelo A, Boyer O, Lilien M, Decramer S, Schanstra JP, Pohl M, Schild R, Weber S, Hoefele J, Drube J, Cetiner M, Hansen M, Thumfart J, Tönshoff B, Habbig S, Liebau MC, Bald M, Bergmann C, Pennekamp P, Konrad M; NEOCYST consortium. (2022) Refining Kidney Survival in 383 Genetically Characterized Patients With Nephronophthisis. Kidney Int Rep, doi: 10.1016/j.ekir.2022.05.035.
Boeckhaus J, Hoefele J, Riedhammer KM, Tönshoff B, Ehren R, Pape L, Latta K, Fehrenbach H, Lange-Sperandio B, Kettwig M, Hoyer P, Staude H, Konrad M, John U, Gellermann J, Hoppe B, Galiano M, Gessner M, Pohl M, Bergmann C, Friede T, Gross O; GPN Study Group and EARLY PRO-TECT Alport Investigators. (2021) Precise variant interpretation, phenotype ascertainment and genotype-phenotype correlation of children in the EARLY PRO-TECT Alport trial Clin Genet, doi: 10.1111/cge.13861.
Raina R, Chakraborty R, Sethi SK, Kumar D, Gibson K, Bergmann C. (2021) Diagnosis and Management of Renal Cystic Disease of the Newborn: Core Curriculum 2021 Am J Kidney Dis, doi: 10.1053/j.ajkd.2020.10.021.
Schrezenmeier E, Kremerskothen E, Halleck F, Staeck O, Liefeldt L, Choi M, Schüler M, Weber U, Bachmann N, Grohmann M, Wagner T, Budde K, Bergmann C. (2021) The underestimated burden of monogenic kidney disease in adults waitlisted for kidney transplantation Genet Med, doi: 10.1038/s41436-021-01127-8.
Pokidysheva EN, Seeger H, Pedchenko V, Chetyrkin S, Bergmann C, Abrahamson D, Cui ZW, Delpire E, Fervenza FC, Fidler AL, Fogo AB, Gaspert A, Grohmann M, Gross O, Haddad G, Harris RC, Kashtan C, Kitching AR, Lorenzen JM, McAdoo S, Pusey CD, Segelmark M, Simmons A, Voziyan PA, Wagner T, Wüthrich RP, Zhao MH, Boudko SP, Kistler AD, Hudson BG. (2021) Collagen IValpha345 dysfunction in glomerular basement membrane diseases. I. Discovery of a COL4A3 variant in familial Goodpasture's and Alport diseases J Biol Chem, doi: 10.1016/j.jbc.2021.100590.
Burgmaier K, Brinker L, Erger F, Beck BB, Benz MR, Bergmann C, Boyer O, Collard L, Dafinger C, Fila M, Kowalewska C, Lange-Sperandio B, Massella L, Mastrangelo A, Mekahli D, Miklaszewska M, Ortiz-Bruechle N, Patzer L, Prikhodina L, Ranchin B, Ranguelov N, Schild R, Seeman T, Sever L, Sikora P, Szczepanska M, Teixeira A, Thumfart J, Uetz B, Weber LT, Wühl E, Zerres K; ESCAPE Study group; GPN study group, Dötsch J, Schaefer F, Liebau MC; ARegPKD consortium. (2021) Refining genotype-phenotype correlations in 304 patients with autosomal recessive polycystic kidney disease and PKHD1 gene variants Kidney Int, doi: 10.1016/j.kint.2021.04.019.
Wiessner M, Maroofian R, Ni MY, ...,Bergmann C, ..., Lee HJ, Ampatzis K, Pierson TM, Senderek J. (2021) Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia Brain, doi: 10.1093/brain/awab041.
Schlingmann KP, Jouret F, Shen K, Nigam A, Arjona FJ, Dafinger C, Houillier P, Jones DP, Kleinerüschkamp F, Oh J, Godefroid N, Eltan M, Güran T, Burtey S, Parotte MC, König J, Braun A, Bos C, Ibars Serra M, Rehmann H, Zwartkruis FJT, Renkema KY, Klingel K, Schulze-Bahr E, Schermer B, Bergmann C, Altmüller J, Thiele H, Beck BB, Dahan K, Sabatini D, Liebau MC, Vargas-Poussou R, Knoers NVAM, Konrad M, de Baaij JHF. (2021) mTOR-Activating Mutations in RRAGD Are Causative for Kidney Tubulopathy and Cardiomyopathy. J Am Soc Nephrol, doi: 10.1681/ASN.2021030333.
Schrezenmeier E, Kremerskothen E, Halleck F, Staeck O, Liefeldt L, Choi M, Schüler M, Weber U, Bachmann N, Grohmann M, Wagner T, Budde K, Bergmann C. (2021) Correction to: The underestimated burden of monogenic kidney disease in adults waitlisted for kidney transplantation. Genet Med, doi: 10.1038/s41436-021-01283-x. Erratum for: Genet Med. 2021 Jul;23(7):1219-1224.
Bedin M, Boyer O, Servais A, ..., Bergmann C, Antignac C and Simons M. (2020) Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function J Clin Invest, doi: 10.1172/JCI129937.
Schulte-Kemna L, Reister B, Bettac L, Ludwig U, Fürst D, Mytilineos J, Bergmann C, van Erp R, Schröppel B. (2020) Eculizumab in chemotherapy-induced thrombotic microangiopathy Clin Nephrol Case Stud, doi: 10.5414/CNCS109836.
Schönauer R, Baatz S, Nemitz-Kliemchen M, Frank V, Petzold F, Sewerin S, Popp B, Münch J, Neuber S, Bergmann C, Halbritter J. (2020) Matching clinical and genetic diagnoses in autosomal dominant polycystic kidney disease reveals novel phenocopies and potential candidate genes Genet Med, doi: 10.1038/s41436-020-0816-3.
Hoermann H, El-Rifai O, Schebek M, Lodefalk M, Brusgaard K, Bachmann N, Bergmann C, Roeper M, Welters A, Salimi Dafsari R, Blankenstein O, Mayatepek E, Christesen H, Meissner T, Kummer S. (2020) Comparative meta-analysis of Kabuki syndrome with and without hyperinsulinaemic hypoglycaemia Clin Endocrinol (Oxf), doi: 10.1111/cen.14267.
Schönauer R, Jin W, Ertel A, Nemitz-Kliemchen M, Panitz N, Hantmann E, Seidel A, Braun DA, Shril S, Hansen M, Shahzad K, Sandford R, Saunier S, Benmerah A, Bergmann C, Hildebrandt F, Halbritter J. (2020) Novel nephronophthisis-associated variants reveal functional importance of MAPKBP1 dimerization for centriolar recruitment Kidney Int, doi: 10.1016/j.kint.2020.05.027.
Gimpel C, Bergmann C, Brinkert F, Cetiner M, Gembruch U, Haffner D, Kemper M, König J, Liebau M, Maier RF, Oh J, Pape L, Riechardt S, Rolle U, Rossi R, Stegmann J, Vester U, Kaisenberg CV, Weber S, Schaefer F. (2020) [Kidney Cysts and Cystic Nephropathies in Children - A Consensus Guideline by 10 German Medical Societies] [Article in German] Klin Padiatr, doi: 10.1055/a-1179-0728.
Epting D, Senaratne LDS, Ott E, Holmgren A, Sumathipala D, Larsen SM, Wallmeier J, Bracht D, Frikstad KM, Crowley S, Sikiric A, Barøy T, Käsmann-Kellner B, Decker E, Decker C, Bachmann N, Patzke S, Phelps IG, Katsanis N, Giles R, Schmidts M, Zucknick M, Lienkamp SS, Omran H, Davis EE, Doherty D, Strømme P, Frengen E, Bergmann C, Misceo D. (2020) Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome. Hum Mutat, doi: 10.1002/humu.24127.
Al-Hujaili H, Taskintuna I, Neuhaus C, Bergmann C and Schatz P. (2019) Long-term follow-up of retinal function and structure in TRPM1-associated complete congenital stationary night blindness Mol Vis, 25:851-858. eCollection 2019.
Kampf LL, Schneider R, Gerstner L, Thünauer R, Chen M, Helmstädter M, Amar A, Onuchic-Whitford AC, Loza Munarriz R, Berdeli A, Müller D, Schrezenmeier E, Budde K, Mane S, Laricchia KM, Rehm HL, MacArthur DG, Lifton RP, Walz G, Römer W, Bergmann C, Hildebrandt F and Hermle T. (2019) TBC1D8B Mutations Implicate RAB11-Dependent Vesicular Trafficking in the Pathogenesis of Nephrotic Syndrome J Am Soc Nephrol, doi: 10.1681/ASN.2019040414.
Hohenfellner K, Bergmann C, Fleige T, Janzen N, Burggraf S, Olgemöller B, Gahl WA, Czibere L, Froschauer S, Röschinger W, Vill K, Harms E and Nennstiel U. (2019) Molecular based newborn screening in Germany: Follow-up for cystinosis Mol Genet Metab Rep, doi: 10.1016/j.ymgmr.2019.100514.
Petzold F, Bachmann A, Bergmann C, Helmchen U and Halbritter J. (2019) Retrospective genetic analysis illustrates the spectrum of autosomal Alport syndrome in a case of living-related donor kidney transplantation BMC Nephrol, doi: 10.1186/s12882-019-1523-7.
Solanki AK, Widmeier E, Arif E, Sharma S, Daga A, Srivastava P, Kwon SH, Hugo H, Nakayama M, Mann N, Majmundar AJ, Tan W, Gee HY, Sadowski CE, Rinat C, Becker-Cohen R, Bergmann C, Rosen S, Somers M, Shril S, Huber TB, Mane S, Hildebrandt F and Nihalani D. (2019) Mutations in KIRREL1, a slit diaphragm component, cause steroid-resistant nephrotic syndrome Kidney Int, doi: 10.1016/j.kint.2019.06.016.
Hohenfellner K, Rauch F, Ariceta G, Awan A, Bacchetta J, Bergmann C, Bechtold S, Cassidy N, Deschenes G, Elenberg E, Gahl WA, Greil O, Harms E, Herzig N, Hoppe B, Koeppl C, Lewis MA, Levtchenko E, Nesterova G, Santos F, Schlingmann KP, Servais A, Soliman NA, Steidle G, Sweeney C, Treikauskas U, Topaloglu R, Tsygin A, Veys K, V Vigier R, Zustin J and Haffner D. (2019) Management of bone disease in cystinosis: Statement from an international conference J Inherit Metab Dis, doi: 10.1002/jimd.12134.
Schönauer R, Seidel A, Grohmann M, Lindner TH, Bergmann C and Halbritter J. (2019) Deleterious Impact of a Novel CFH Splice Site Variant in Atypical Hemolytic Uremic Syndrome Front Genet, doi: 10.3389/fgene.2019.00465.
Welters A, El-Khairi R, Dastamani A, Bachmann N, Bergmann C, Gilbert C, Clement E, Hurst JA, Quercia N, Wasserman JD, Meissner T, Shah P and Kummer S. (2019) Persistent hyperinsulinaemic hypoglycaemia in children with Rubinstein-Taybi syndrome Eur J Endocrinol, doi: 10.1530/EJE-19-0119.
Gimpel C, Bergmann C, Bockenhauer D, Breysem L, Cadnapaphornchai MA, Cetiner M, Dudley J, Emma F, Konrad M, Harris T, Harris PC, König J, Liebau MC, Marlais M, Mekahli D, Metcalfe AM, Oh J, Perrone RD, Sinha MD, Titieni A, Torra R, Weber S, Winyard PJD and Schaefer F. (2019) International consensus statement on the diagnosis and management of autosomal dominant polycystic kidney disease in children and young people Nat Rev Nephrol, doi: 10.1038/s41581-019-0155-2.
Schrezenmeier E, Budde K and Bergmann C. (2019) Diagnostic Utility of Exome Sequencing for Kidney Disease N Engl J Med, doi: 10.1056/NEJMc1903250.
Reinauer C, Bergmann C, Jonasson A, Soditt V, Mayatepek E, Meißner T and Kummer S. (2019) ZFP57-related Transient Neonatal Diabetes Responsive to Oral Sulfonylurea Treatment Klin Padiatr, doi: 10.1055/a-0889-8307.
Ottlewski I, Münch J, Wagner T, Schönauer R, Bachmann A, Weimann A, Hentschel J, Lindner TH, Seehofer D, Bergmann C, Jamra RA and Halbritter J. (2019) Value of renal gene panel diagnostics in adults waiting for kidney transplantation due to undetermined end-stage renal disease Kidney Int, doi: 10.1016/j.kint.2019.01.038.
Schönauer R, Petzold F, Lucinescu W, Seidel A, Müller L, Neuber S, Bergmann C, Sayer JA, Werner A and Halbritter J. (2019) Evaluating pathogenicity of SLC34A3-Ser192Leu, a frequent European missense variant in disorders of renal phosphate wasting Urolithiasis, doi: 10.1007/s00240-019-01116-2.
Okorn C, Goertz A, Vester U, Beck BB, Bergmann C, Habbig S, König J, Konrad M, Müller D, Oh J, Ortiz-Brüchle N, Patzer L, Schild R, Seeman T, Staude H, Thumfart J, Tönshoff B, Walden U, Weber L, Zaniew M, Zappel H, Hoyer PF and Weber S. (2019) HNF1B nephropathy has a slow-progressive phenotype in childhood-with the exception of very early onset cases: results of the German Multicenter HNF1B Childhood Registry Pediatr Nephrol, doi: 10.1007/s00467-018-4188-8.
Bergmann C. (2019) Early and Severe Polycystic Kidney Disease and Related Ciliopathies: An Emerging Field of Interest Nephron, doi: 10.1159/000493532.
Pauli S, Altmüller J, Schröder S, Ohlenbusch A, Dreha-Kulaczewski S, Bergmann C, Nürnberg P, Thiele H, Li Y, Wollnik B and Brockmann K. (2019) Homozygosity for the c.428delG variant in KIAA0586 in a healthy individual: implications for molecular testing in patients with Joubert syndrome J Med Genet, doi: 10.1136/jmedgenet-2018-105470.
Janchevska A, Tasic V, Laban N, Polenakovic M, Gucev Z, Bachmann N and Bergmann C. (2018) A 4-Year-Old Boy with Beckwith Wiedemann Syndrome (BWS) Pril (Makedon Akad Nauk Umet Odd Med Nauki), doi: 10.2478/prilozi-2018-0052.
Bergmann C, Guay-Woodford LM, Harris PC, Horie S, Peters DJM, Torres VE. (2018) Polycystic kidney disease Nat Rev Dis Primers, doi: 10.1038/s41572-018-0047-y.
Walpole S, Pritchard AL, Cebulla CM, ..., Bergmann C, ..., Paillerets BB, Abdel-Rahman MH and Hayward NK. (2018) Comprehensive Study of the Clinical Phenotype of Germline BAP1 Variant-Carrying Families Worldwide J Natl Cancer Inst, doi: 10.1093/jnci/djy171.
Abdelkader E, Brandau O, Bergmann C, AlSalamah N, Nowilaty S and Schatz P. (2018) Novel causative variants in patients with achromatopsia Ophthalmic Genet, doi: 10.1080/13816810.2018.1522653.
Hoff S, Epting D, Falk N, Schroda S, Braun DA, Halbritter J, Hildebrandt F, Kramer-Zucker A, Bergmann C, Walz G and Lienkamp SS. (2018) The nucleoside-diphosphate kinase NME3 associates with nephronophthisis proteins and is required for ciliary function during renal development J Biol Chem, doi: 10.1074/jbc.RA117.000847.
Spartà G, Gaspert A, Neuhaus TJ, Weitz M, Mohebbi N, Odermatt U, Zipfel PF, Bergmann C and Laube GF. (2018) Membranoproliferative glomerulonephritis and C3 glomerulopathy in children: change in treatment modality? A report of a case series Clin Kidney J, doi: 10.1093/ckj/sfy006.
Abdelkader E, AlHilali S, Neuhaus C, Bergmann C, AlMurshed T and Schatz P. (2018) Congenital stationary night blindness associated with morning glory disc malformation: a novel hemizygous mutation in CACNA1F Ophthalmic Genet, doi: 10.1080/13816810.2018.
Molinari E, Decker E, Mabillard H, Tellez J, Srivastava S, Raman S, Wood K, Kempf C, Alkanderi S, Ramsbottom SA, Miles CG, Johnson CA, Hildebrandt F, Bergmann C and Sayer JA. (2018) Human urine-derived renal epithelial cells provide insights into kidney-specific alternate splicing variants Eur J Hum Genet, doi: 10.1038/s41431-018-0212-5.
Rinschen MM, Gödel M, Grahammer F, Zschiedrich S, Helmstädter M, Kretz O, Zarei M, Braun DA, Dittrich S, Pahmeyer C, Schroder P, Teetzen C, Gee H, Daouk G, Pohl M, Kuhn E, Schermer B, Küttner V, Boerries M, Busch H, Schiffer M, Bergmann C, Krüger M, Hildebrandt F, Dengjel J, Benzing T and Huber TB. (2018) A Multi-layered Quantitative In Vivo Expression Atlas of the Podocyte Unravels Kidney Disease Candidate Genes Cell Rep, doi: 10.1016/j.celrep.2018.04.059.
Burgmaier K, Kunzmann K, Ariceta G, Bergmann C, ..., Dötsch J, Schaefer F, Liebau MC; ARegPKD consortium. (2018) Risk Factors for Early Dialysis Dependency in Autosomal Recessive Polycystic Kidney Disease J Pediatr, doi: 10.1016/j.jpeds.2018.03.052.
Geoffroy V, Stoetzel C, Scheidecker S, Schaefer E, Perrault I, Bär S, Kröll A, Delbarre M, Antin M, Leuvrey AS, Henry C, Blanché H, Decker E, Kloth K, Klaus G, Mache C, Martin-Coignard D, McGinn S, Boland A, Deleuze JF, Friant S, Saunier S, Rozet JM, Bergmann C, Dollfus H and Muller J. (2018) Whole-genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in IFT140 Hum Mutat, doi: 10.1002/humu.23539.
Eichinger A, Ponsel S, Bergmann C, Günthner R, Hoefele J, Amann K and Lange-Sperandio B. (2018) Cyclosporine A responsive congenital nephrotic syndrome with single heterozygous variants in NPHS1, NPHS2, and PLCE1 Pediatr Nephrol, doi: 10.1007/s00467-018-3961-z.
Bergmann C. (2018) Genetics of Autosomal Recessive Polycystic Kidney Disease and Its Differential Diagnoses Front Pediatr, doi: 10.3389/fped.2017.00221.
Welte T, Arnold F, Kappes J, Seidl M, Häffner K, Bergmann C, Walz G and Neumann-Haefelin E. (2018) Treating C3 glomerulopathy with eculizumab BMC Nephrol, doi: 10.1186/s12882-017-0802-4.
Deshwar AR, Dupuis L, Bergmann C, Stavropoulos J and Mendoza-Londono R. (2018) Severe rhizomelic shortening in a child with a complex duplication/deletion rearrangement of chromosome X Am J Med Genet A, doi: 10.1002/ajmg.a.38570.
Kakar N, Horn D, Decker E, Sowada N, Kubisch C, Ahmad J, Borck G and Bergmann C. (2018) Expanding the phenotype associated with biallelic WDR60 mutations: Siblings with retinal degeneration and polydactyly lacking other features of short rib thoracic dystrophies Am J Med Genet A, doi: 10.1002/ajmg.a.38562.
Gimpel C, Avni FE, Bergmann C, Cetiner M, Habbig S, Haffner D, König J, Konrad M, Liebau MC, Pape L, Rellensmann G, Titieni A, von Kaisenberg C, Weber S, Winyard PJD and Schaefer F. (2018) Perinatal Diagnosis, Management, and Follow-up of Cystic Renal Diseases: A Clinical Practice Recommendation With Systematic Literature Reviews JAMA Pediatr, doi: 10.1001/jamapediatrics.2017.3938.
C. Bergmann (2017) Advances in renal genetic diagnosis Cell Tissue Res 369, 93-104.
Y. Matsumoto, J. La Rose, M. Lim, H. A. Adissu, N. Law, X. Mao, F. Cong, P. Mera, G. Karsenty, D. Goltzman, A. Changoor, L. Zhang, M. Stajkowski, M. D. Grynpas, C. Bergmann and R. Rottapel (2017) Ubiquitin ligase RNF146 coordinates bone dynamics and energy metabolism J Clin Invest 127, 2612-2625.
H. Lu, M. C. R. Galeano, E. Ott, G. Kaeslin, P. J. Kausalya, C. Kramer, N. Ortiz-Bruchle, N. Hilger, V. Metzis, M. Hiersche, S. Y. Tay, R. Tunningley, S. Vij, A. D. Courtney, B. Whittle, E. Wuhl, U. Vester, B. Hartleben, S. Neuber, V. Frank, M. H. Little, D. Epting, P. Papathanasiou, A. C. Perkins, G. D. Wright, W. Hunziker, H. Y. Gee, E. A. Otto, K. Zerres, F. Hildebrandt, S. Roy, C. Wicking and C. Bergmann (2017) Mutations in DZIP1L, which encodes a ciliary-transition-zone protein, cause autosomal recessive polycystic kidney disease Nat Genet 49, 1025-1034.
K. Azukaitis, E. Simkova, M. A. Majid, M. Galiano, K. Benz, K. Amann, C. Bockmeyer, R. Gajjar, K. E. Meyers, H. I. Cheong, B. Lange-Sperandio, T. Jungraithmayr, V. Fremeaux-Bacchi, C. Bergmann, C. Bereczki, M. Miklaszewska, D. Csuka, Z. Prohaszka, P. Gipson, M. G. Sampson, M. Lemaire and F. Schaefer (2017) The Phenotypic Spectrum of Nephropathies Associated with Mutations in Diacylglycerol Kinase epsilon J Am Soc Nephrol.
K. Ebner, F. Schaefer, M. C. Liebau and A. R. Consortium (2017) Recent Progress of the ARegPKD Registry Study on Autosomal Recessive Polycystic Kidney Disease Front Pediatr 5, 18.
N. Bachmann, R. Crazzolara, F. Bohne, D. Kotzot, K. Maurer, T. Enklaar, D. Prawitt and C. Bergmann (2017) Novel deletion in 11p15.5 imprinting center region 1 in a patient with Beckwith-Wiedemann syndrome provides insight into distal enhancer regulation and tumorigenesis Pediatr Blood Cancer 64.
Münch J, Bachmann A, Grohmann M, Mayer C, Kirschfink M, Lindner TH, Bergmann C, Halbritter J. (2017) Effective immunosuppressive management with belatacept and eculizumab in post-transplant aHUS due to a homozygous deletion of CFHR1/CFHR3 and the presence of CFH antibodies. Clin Kidney J, doi: 10.1093/ckj/sfx053.
König J, Kranz B, König S, Schlingmann KP, Titieni A, Tönshoff B, Habbig S, Pape L, Häffner K, Hansen M, Büscher A, Bald M, Billing H, Schild R, Walden U, Hampel T, Staude H, Riedl M, Gretz N, Lablans M, Bergmann C, Hildebrandt F, Omran H, Konrad M; Gesellschaft für Pädiatrische Nephrologie (GPN). (2017) Phenotypic Spectrum of Children with Nephronophthisis and Related Ciliopathies Clin J Am Soc Nephrol, doi: 10.2215/CJN.01280217.
De Rechter S, Kringen J, Janssens P, Liebau MC, Devriendt K, Levtchenko E, Bergmann C, Jouret F, Bammens B, Borry P, Schaefer F, Mekahli D. (2017) Clinicians' attitude towards family planning and timing of diagnosis in autosomal dominant polycystic kidney disease PLoS One, doi: 10.1371/journal.pone.0185779.
Bergmann C. (2017) Recent advances in the molecular diagnosis of polycystic kidney disease Expert Rev Mol Diagn, doi: 10.1080/14737159.2017.1386099.
J. Munch, M. Grohmann, T. H. Lindner, C. Bergmann and J. Halbritter (2016) Diagnosing FSGS without kidney biopsy - a novel INF2-mutation in a family with ESRD of unknown origin BMC Med Genet 17, 73.
I. Bader, E. Decker, J. A. Mayr, V. Lunzer, J. Koch, E. Boltshauser, W. Sperl, P. Pietsch, B. Ertl-Wagner, H. Bolz, C. Bergmann and O. Rittinger (2016) MKS1 mutations cause Joubert syndrome with agenesis of the corpus callosum Eur J Med Genet 59, 386-91.
R. Anders, M. Grohmann, T. H. Lindner, C. Bergmann and J. Halbritter (2016) [Hemolytic kidney failure and transient ischemic attack in a 32-year-old female] Internist (Berl) 57, 1022-1028.
T. Ahlenstiel-Grunow, S. Hachmeister, F. C. Bange, C. Wehling, M. Kirschfink, C. Bergmann and L. Pape (2016) Systemic complement activation and complement gene analysis in enterohaemorrhagic Escherichia coli-associated paediatric haemolytic uraemic syndrome Nephrol Dial Transplant 31, 1114-21.
C. Bergmann, V. Frank and R. Salonen (2016) Clinical utility gene card for: Meckel syndrome - update 2016 Eur J Hum Genet 24.
A. O. Khan, E. Decker, N. Bachmann, H. J. Bolz and C. Bergmann (2016) C8orf37 is mutated in Bardet-Biedl syndrome and constitutes a locus allelic to non-syndromic retinal dystrophies Ophthalmic Genet 37, 290-3.
S. Habbig, C. Bergmann and L. T. Weber (2016) Discontinuation of Eculizumab in a Patient With Atypical Hemolytic Uremic Syndrome Due to a Mutation in CFH Am J Kidney Dis 67, 532-3.
E. Korkmaz, B. S. Lipska-Zietkiewicz, O. Boyer, O. Gribouval, C. Fourrage, M. Tabatabaei, S. Schnaidt, S. Gucer, F. Kaymaz, M. Arici, A. Dinckan, S. Mir, A. K. Bayazit, S. Emre, A. Balat, L. Rees, R. Shroff, C. Bergmann, C. Mourani, C. Antignac, F. Ozaltin, F. Schaefer and C. PodoNet (2016) ADCK4-Associated Glomerulopathy Causes Adolescence-Onset FSGS J Am Soc Nephrol 27, 63-8.
W. R. Cnossen, R. H. te Morsche, A. Hoischen, C. Gilissen, H. Venselaar, S. Mehdi, C. Bergmann, M. Losekoot, M. H. Breuning, D. J. Peters, J. A. Veltman and J. P. Drenth (2016) LRP5 variants may contribute to ADPKD Eur J Hum Genet 24, 237-42.
Khan AO, Al Rashaed S, Neuhaus C, Bergmann C, Bolz HJ (2015) Peripherin mutations cause a distinct form of recessive Leber congenital amaurosis and dominant phenotypes in asymptomatic parents heterozygous for the mutation Br J Ophtalmol, pii: bjophthalmol-2015-306844
Chen YC, Auer-Grumbach M, Matsukawa S, Zitzelsberger M, Themistocleous AC, Strom TM, Samara C, Moore AW, Cho LT, Young GT, Weiss C, Schabhüttl M, Stucka R, Schmid AB, Parman Y, Graul-Neumann L, Heinritz W, Passarge E, Watson RM, Hertz JM, Moog U, Baumgartner M, Valente EM, Pereira D, Restrepo CM, Katona I, Dusl M, Stendel C, Wieland T, Stafford F, Reimann F, von Au K, Finke C, Willems PJ28, Nahorski MS1, Shaikh SS, Carvalho OP, Nicholas AK, Karbani G, McAleer MA, Cilio MR, McHugh JC, Murphy SM, Irvine AD, Jensen UB, Windhager R, Weis J, Bergmann C, Rautenstrauss B, Baets J, De Jonghe P, Reilly MM, Kropatsch R, Kurth I, Chrast R, Michiue T, Bennett DL, Woods CG, Senderek J (2015) Transcriptional regulator PRDM12 is essential for human pain perception Nat Genet 47, 803-808
Ebner K, Feldkoetter M, Ariceta G, Bergmann C, Buettner R, Doyon A, Duzova A, Goebel H, Haffner D, Hero B, Hoppe B, Illig T, Jankauskiene A, Klopp N, König J, Litwin M, Mekahli D, Ranchin B, Sander A, Testa S, Weber LT, Wicher D, Yuzbasioglu A, Zerres K, Dötsch J, Schaefer F, Liebau MC29; ESCAPE Study Group; GPN Study Group (2015) Rationale, design and objectives of ARegPKD, a European ARPKD registry study BMC Nephrol, doi: 10.1186/s12882-015-0002-z
Dondorp W, de Wert G, Bombard Y, Bianchi DW, Bergmann C, Borry P, Chitty LS, Fellmann F, Forzano F, Hall A, Henneman L, Howard HC, Lucassen A, Ormond K, Peterlin B, Radojkovic D, Rogowski W, Soller M, Tibben A, Tranebjærg L, van El CG, Cornel MC (2015) Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening. Summary and recommendations Eur J Hum Genet, doi: 10.1038/ejhg.2015.56
Lehnhardt A, Karnatz C, Ahlenstiel-Grunow T, Benz K, Benz MR, Budde K, Büscher AK, Fehr T, Feldkötter M, Graf N, Höcker B, Jungraithmayr T, Klaus G, Koehler B, Konrad M, Kranz B, Montoya CR, Müller D, Neuhaus TJ, Oh J, Pape L, Pohl M, Royer-Pokora B, Querfeld U, Schneppenheim R, Staude H, Spartà G, Timmermann K, Wilkening F, Wygoda S, Bergmann C, Kemper MJ (2015) Clinical and molecular characterization of patients with heterozygous mutations in wilms tumor suppressor gene 1 Clin J Am Soc Nephrol, 10, 825-831
A. B. Chapman, O. Devuyst, K. U. Eckardt, R. T. Gansevoort, T. Harris, S. Horie, B. L. Kasiske, D. Odland, Y. Pei, R. D. Perrone, Y. Pirson, R. W. Schrier, R. Torra, V. E. Torres, T. Watnick, D. C. Wheeler and P. Conference (2015) Autosomal-dominant polycystic kidney disease (ADPKD): executive summary from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference Kidney Int 88, 17-27.
W. Dondorp, G. de Wert, Y. Bombard, D. W. Bianchi, C. Bergmann, P. Borry, L. S. Chitty, F. Fellmann, F. Forzano, A. Hall, L. Henneman, H. C. Howard, A. Lucassen, K. Ormond, B. Peterlin, D. Radojkovic, W. Rogowski, M. Soller, A. Tibben, L. Tranebjaerg, C. G. van El and M. C. Cornel (2015) Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening Eur J Hum Genet, doi: 10.1038/ejhg.2015.57
M. Thoenes, U. Zimmermann, I. Ebermann, M. Ptok, M. A. Lewis, H. Thiele, S. Morlot, M. M. Hess, A. Gal, T. Eisenberger, C. Bergmann, G. Nurnberg, P. Nurnberg, K. P. Steel, M. Knipper and H. Bolz (2015) OSBPL2 encodes a protein of inner and outer hair cell stereocilia and is mutated in autosomal dominant hearing loss (DFNA67) Orphanet J Rare Dis 10
G. Schalk, M. Kirschfink, C. Wehling, S. Gastoldi, C. Bergmann, B. Hoppe and L. T. Weber (2015) A complicated case of atypical hemolytic uremic syndrome with frequent relapses under eculizumab Pediatr Nephrol
T. Eisenberger, C. Decker, M. Hiersche, R. C. Hamann, E. Decker, S. Neuber, V. Frank, H. J. Bolz, H. Fehrenbach, L. Pape, B. Toenshoff, C. Mache, K. Latta and C. Bergmann (2015) An efficient and comprehensive strategy for genetic diagnostics of polycystic kidney disease PLoS One 10, e0116680
A. O. Khan, C. Bergmann, C. Neuhaus and H. J. Bolz (2015) A Distinct Vitreo-retinal Dystrophy with Early-onset Cataract from Recessive KCNJ13 Mutations Ophthalmic Genet 36, 79-84
M. J. Janssen, J. Salomon, W. R. Cnossen, C. Bergmann, R. Pfundt and J. P. Drenth (2015) Somatic loss of polycystic disease genes contributes to the formation of isolated and polycystic liver cysts Gut 64, 688-90
C. Bergmann (2015) ARPKD and early manifestations of ADPKD: the original polycystic kidney disease and phenocopies Pediatr Nephrol 30, 15-30
Huppke P, Wegener E, Böhrer-Rabel H, Bolz HJ, Zoll B, Gärtner J, Bergmann C (2015) Tectonic gene mutations in patients with Joubert syndrome Eur J Hum Genet 5, 616-6120
Ling G, Landau D, Bergmann C, Maor E, Yerushalmi B. (2015) Neonatal ascites in autosomal recessive polycystic kidney disease (ARPKD) Clin Nephrol 83, 297-300
A. O. Khan, C. Bergmann, T. Eisenberger and H. J. Bolz (2014) A TULP1 founder mutation, p.Gln301*, underlies a recognisable congenital rod-cone dystrophy phenotype on the Arabian Peninsula Br J Ophthalmol, doi: 10.1136/bjophthalmol-2014-305836
G. Ling, D. Landau, C. Bergmann, E. Maor and B. Yerushalmi (2014) Neonatal ascites in autosomal recessive polycystic kidney disease (ARPKD) Clin Nephrol
P. Huppke, E. Wegener, H. Bohrer-Rabel, H. J. Bolz, B. Zoll, J. Gartner and C. Bergmann (2014) Tectonic gene mutations in patients with Joubert syndrome Eur J Hum Genet, doi: 10.1038/ejhg.2014.160
V. Frank, K. Zerres and C. Bergmann (2014) Transcriptional complexity in autosomal recessive polycystic kidney disease Clin J Am Soc Nephrol 9, 1729-36
B. B. Beck, J. B. Phillips, M. P. Bartram, J. Wegner, M. Thoenes, A. Pannes, J. Sampson, R. Heller, H. Gobel, F. Koerber, A. Neugebauer, A. Hedergott, G. Nurnberg, P. Nurnberg, H. Thiele, J. Altmuller, M. R. Toliat, S. Staubach, K. M. Boycott, E. M. Valente, A. R. Janecke, T. Eisenberger, C. Bergmann, L. Tebbe, Y. Wang, Y. Wu, A. M. Fry, M. Westerfield, U. Wolfrum and H. J. Bolz (2014) Mutation of POC1B in a severe syndromic retinal ciliopathy Hum Mutat 35, 1153-62
A. O. Khan, S. Nagl, C. Bergmann and H. J. Bolz (2014) Limited ocular motility in a child with 3q23 microdeletion ("blepharophimosis syndrome plus") Pediatr Ophthalmol Strabismus 51, e51-4
L. M. Guay-Woodford, J. J. Bissler, M. C. Braun, D. Bockenhauer, M. A. Cadnapaphornchai, K. M. Dell, L. Kerecuk, M. C. Liebau, M. H. Alonso-Peclet, B. Shneider, S. Emre, T. Heller, B. M. Kamath, K. F. Murray, K. Moise, E. E. Eichenwald, J. Evans, R. L. Keller, L. Wilkins-Haug, C. Bergmann, M. Gunay-Aygun, S. R. Hooper, K. K. Hardy, E. A. Hartung, R. Streisand, R. Perrone and M. Moxey-Mims (2014) Consensus Expert Recommendations for the Diagnosis and Management of Autosomal Recessive Polycystic Kidney Disease: Report of an International Conference Journal.
A. O. Khan, S. Al-Mesfer, S. Al-Turkmani, C. Bergmann and H. J. Bolz (2014) Genetic analysis of strictly defined Leber congenital amaurosis with (and without) neurodevelopmental delay Journal.
M. Christmann, M. Hansen, C. Bergmann, D. Schwabe, J. Brand and W. Schneider (2014) Eculizumab as first-line therapy for atypical hemolytic uremic syndrome Pediatrics 133, e1759-63
W. R. Cnossen, R. H. te Morsche, A. Hoischen, C. Gilissen, M. Chrispijn, H. Venselaar, S. Mehdi, C. Bergmann, J. A. Veltman and J. P. Drenth (2014) Whole-exome sequencing reveals LRP5 mutations and canonical Wnt signaling associated with hepatic cystogenesis Journal 111, 5343-8.
A. O. Khan, H. J. Bolz and C. Bergmann (2014) Early-onset severe retinal dystrophy as the initial presentation of IFT140-related skeletal ciliopathy Journal 18, 203-5.
A. O. Khan, H. J. Bolz and C. Bergmann (2014) Results of fibrillin-1 gene analysis in children from inbred families with lens subluxation Journal 18, 134-9.
T. Eisenberger, N. Di Donato, S. M. Baig, C. Neuhaus, A. Beyer, E. Decker, D. Murbe, C. Decker, C. Bergmann and H. J. Bolz (2014) Targeted and genomewide NGS data disqualify mutations in MYO1A, the "DFNA48 gene", as a cause of deafness Hum Mutat 35, 565-70
E. Z. Taskiran, E. Korkmaz, S. Gucer, C. Kosukcu, F. Kaymaz, C. Koyunlar, E. C. Bryda, M. Chaki, D. Lu, K. Vadnagara, C. Candan, R. Topaloglu, F. Schaefer, M. Attanasio, C. Bergmann and F. Ozaltin (2014) Mutations in ANKS6 cause a nephronophthisis-like phenotype with ESRD J Am Soc Nephrol 25, 1653-61
M. Sukalo, A. Fiedler, C. Guzman, S. Spranger, M. C. Addor, J. N. McHeik, M. Oltra Benavent, J. M. Cobben, L. A. Gillis, A. G. Shealy, C. Deshpande, B. Bozorgmehr, D. B. Everman, E. L. Stattin, J. Liebelt, K. M. Keller, D. R. Bertola, C. D. van Karnebeek, C. Bergmann, Z. Liu, G. Duker, N. Rezaei, F. S. Alkuraya, G. Ogur, A. Alrajoudi, C. A. Venegas-Vega, N. E. Verbeek, E. J. Richmond, O. Kirbiyik, P. Ranganath, A. Singh, K. Godbole, F. A. Ali, C. Alves, J. Mayerle, M. M. Lerch, H. Witt and M. Zenker (2014) Mutations in the human UBR1 gene and the associated phenotypic spectrum Journal 35, 521-31.
H. Fehrenbach, C. Decker, T. Eisenberger, V. Frank, T. Hampel, U. Walden, K. U. Amann, I. Kruger-Stollfuss, H. J. Bolz, K. Haffner, M. Pohl and C. Bergmann (2014) Mutations in WDR19 encoding the intraflagellar transport component IFT144 cause a broad spectrum of ciliopathies Pediatr Nephrol 29, 1451-6
T. Schmidt, T. Bierhals, F. Kortum, I. Bartels, T. Liehr, P. Burfeind, M. Shoukier, V. Frank, C. Bergmann and K. Kutsche (2014) Branchio-otic syndrome caused by a genomic rearrangement: clinical findings and molecular cytogenetic studies in a patient with a pericentric inversion of chromosome 8 Cytogenet Genome Res 142, 1-6.
T. Eisenberger, C. Neuhaus, A. O. Khan, C. Decker, M. N. Preising, C. Friedburg, A. Bieg, M. Gliem, P. Charbel Issa, F. G. Holz, S. M. Baig, Y. Hellenbroich, A. Galvez, K. Platzer, B. Wollnik, N. Laddach, S. R. Ghaffari, M. Rafati, E. Botzenhart, S. Tinschert, D. Borger, A. Bohring, J. Schreml, S. Kortge-Jung, C. Schell-Apacik, K. Bakur, J. Y. Al-Aama, T. Neuhann, P. Herkenrath, G. Nurnberg, P. Nurnberg, J. S. Davis, A. Gal, C. Bergmann, B. Lorenz and H. J. Bolz (2013) Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies PLoS One 8, e78496.
R. Weiskirchen, J. Weimer, S. K. Meurer, A. Kron, B. Seipel, I. Vater, N. Arnold, R. Siebert, L. Xu, S. L. Friedman and C. Bergmann (2013) Genetic characteristics of the human hepatic stellate cell line LX-2 PLoS One 8, e75692.
A. Galvez-Ruiz, C. Neuhaus, C. Bergmann and H. Bolz (2013) First cases of dominant optic atrophy in Saudi Arabia: report of two novel OPA1 mutations J Neuroophthalmol 33, 349-53.
C. Roth, J. Kleffmann, C. Bergmann, W. Deinsberger and A. Ferbert (2013) Ruptured Cerebral Aneurysm and Acute Bilateral Carotid Artery Dissection in a Patient with Polycystic Kidney Disease and Polycystic Liver Disease Cerebrovasc Dis 35, 590-591.
S. Hoff, J. Halbritter, D. Epting, V. Frank, T. M. Nguyen, J. van Reeuwijk, C. Boehlke, C. Schell, T. Yasunaga, M. Helmstadter, M. Mergen, E. Filhol, K. Boldt, N. Horn, M. Ueffing, E. A. Otto, T. Eisenberger, M. W. Elting, J. A. van Wijk, D. Bockenhauer, N. J. Sebire, S. Rittig, M. Vyberg, T. Ring, M. Pohl, L. Pape, T. J. Neuhaus, N. A. Elshakhs, S. J. Koon, P. C. Harris, F. Grahammer, T. B. Huber, E. W. Kuehn, A. Kramer-Zucker, H. J. Bolz, R. Roepman, S. Saunier, G. Walz, F. Hildebrandt, C. Bergmann and S. S. Lienkamp (2013) ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3 Nat Genet.
L. Speksnijder, T. E. Cohen-Overbeek, M. F. Knapen, S. M. Lunshof, A. J. Hoogeboom, A. M. van den Ouwenland, I. F. de Coo, M. H. Lequin, H. J. Bolz, C. Bergmann, L. G. Biesecker, P. J. Willems and M. W. Wessels (2013) A de novo GLI3 mutation in a patient with acrocallosal syndrome Am J Med Genet A 161, 1394-400.
F. Brinkert, A. Lehnhardt, C. Montoya, K. Helmke, H. Schaefer, L. Fischer, B. Nashan, C. Bergmann, R. Ganschow and M. J. Kemper (2013) Combined liver-kidney transplantation for children with autosomal recessive polycystic kidney disease (ARPKD): indication and outcome Transpl Int 26, 640-50.
C. Bergmann (2013) Autosomal-recessive polycystic kidney disease gets more complex Gastroenterology 144, 1155-6.
F. Modde, P. A. Agustian, J. Wittig, M. E. Dammrich, V. Forstmeier, U. Vester, T. Ahlenstiel, K. Froede, U. Budde, A. M. Wingen, A. Schwarz, S. Lovric, J. T. Kielstein, C. Bergmann, N. Bachmann, M. Nagel, H. H. Kreipe, V. Brocker, C. L. Bockmeyer and J. U. Becker (2013) Comprehensive analysis of glomerular mRNA expression of pro- and antithrombotic genes in atypical haemolytic-uremic syndrome (aHUS) Virchows Arch 462, 455-64.
V. Frank, S. Habbig, M. P. Bartram, T. Eisenberger, H. E. Veenstra-Knol, C. Decker, R. A. Boorsma, H. Gobel, G. Nurnberg, A. Griessmann, M. Franke, L. Borgal, P. Kohli, L. A. Volker, J. Dotsch, P. Nurnberg, T. Benzing, H. J. Bolz, C. Johnson, E. H. Gerkes, B. Schermer and C. Bergmann (2013) Mutations in NEK8 link multiple organ dysplasia with altered Hippo signalling and increased c-MYC expression Hum Mol Genet 22, 2177-85.
M. Schmidts, V. Frank, T. Eisenberger, S. Al Turki, A. A. Bizet, D. Antony, S. Rix, C. Decker, N. Bachmann, M. Bald, T. Vinke, B. Toenshoff, N. Di Donato, T. Neuhann, J. L. Hartley, E. R. Maher, R. Bogdanovic, A. Peco-Antic, C. Mache, M. E. Hurles, I. Joksic, M. Guc-Scekic, J. Dobricic, M. Brankovic-Magic, H. J. Bolz, G. J. Pazour, P. L. Beales, P. J. Scambler, S. Saunier, H. M. Mitchison and C. Bergmann (2013) Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease Hum Mutat 34, 714-24.
R. Schild, T. Knuppel, M. Konrad, C. Bergmann, A. Trautmann, M. J. Kemper, K. Wu, S. Yaklichkin, J. Wang, R. Pestell, D. E. Muller-Wiefel, F. Schaefer and S. Weber (2013) Double homozygous missense mutations in DACH1 and BMP4 in a patient with bilateral cystic renal dysplasia Nephrol Dial Transplant 28, 227-32.
H. Vastinsalo, R. Jalkanen, C. Bergmann, C. Neuhaus, L. Kleemola, L. Jauhola, H. J. Bolz and E. M. Sankila (2013) Extended mutation spectrum of Usher syndrome in Finland Acta Ophthalmol 91, 325-34.
I. Vogl, S. Eck, A. B. Pages, P. A. Greif, K. Hirv, S. Kotschote, M. Kuhn, A. Gehring, C. Bergmann, H. J. Bolz, M. Stuhrmann, S. Biskup, K. Metzeler and H. G. Klein (2013) Diagnostic applications of next generation sequencing - working towards quality standards J Lab Med (in press).
K. Strasser, J. Hoefele, C. Bergmann, A. K. Buscher, R. Buscher, P. F. Hoyer and S. Weber (2012) COL4A5-associated X-linked Alport syndrome in a female patient with early inner ear deafness due to a mutation in MYH9 Nephrol Dial Transplant 27, 4236-40.
N. Bachmann and C. Bergmann (2012) Epigenetics and imprinting Arch Pediatr 19, 1145-7.
S. Habbig, M. P. Bartram, J. G. Sagmuller, A. Griessmann, M. Franke, R. U. Muller, R. Schwarz, M. Hoehne, C. Bergmann, C. Tessmer, H. C. Reinhardt, V. Burst, T. Benzing and B. Schermer (2012) The ciliopathy disease protein NPHP9 promotes nuclear delivery and activation of the oncogenic transcriptional regulator TAZ Hum Mol Genet 21, 5528-38.
T. Eisenberger, R. Slim, A. Mansour, M. Nauck, G. Nurnberg, P. Nurnberg, C. Decker, C. Dafinger, I. Ebermann, C. Bergmann and H. J. Bolz (2012) Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3 Orphanet J Rare Dis 7, 59.
J. Busch, V. Frank, N. Bachmann, A. Otsuka, V. Oji, D. Metze, K. Shah, S. Danda, B. Watzer, H. Traupe, H. J. Bolz, K. Kabashima and C. Bergmann (2012) Mutations in the prostaglandin transporter SLCO2A1 cause primary hypertrophic osteoarthropathy with digital clubbing J Invest Dermatol 132, 2473-6.
B. Hinkes; K. F. Hilgers; H. J. Bolz; M. Goppelt-Struebe; K. Amann; S. Nagl; C. Bergmann; W. Rascher; K. U. Eckardt; J. Jacobi (2012) A complex microdeletion 17q12 phenotype in a patient with recurrent de novo membranous nephropathy BMC Nephrol 13, 27.
A. Zingg-Schenk; J. Caduff; S. Azzarello-Burri; C. Bergmann; J. P. Drenth; T. J. Neuhaus (2012) Boy with autosomal recessive polycystic kidney and autosomal dominant polycystic liver disease Pediatr Nephrol 27, 1197-200.
J. Kleffmann, V. Frank, A. Ferbert and C. Bergmann (2012) Dosage-sensitive network in polycystic kidney and liver disease: multiple mutations cause severe hepatic and neurological complications J Hepatol 57, 476-7.
R. A. Mahfouz; H. J. Bolz; Z. K. Otrock; C. Bergmann; S. Muwakkit (2012) Novel mutation in the glycoprotein Ibbeta in a patient with Bernard-Soulier syndrome: possibility of distant parental consanguinity Blood Coagul Fibrinolysis 23, 335-7.
S. Zhang, E. Condac, H. Qiu, J. Jiang, G. Gutierrez-Sanchez, C. Bergmann, T. Handel and L. Wang (2012) Heparin-induced leukocytosis requires 6-O-sulfation and is caused by blockade of selectin- and CXCL12 protein-mediated leukocyte trafficking in mice J Biol Chem 287, 5542-53.
C. Bergmann and R. Weiskirchen (2012) It's not all in the cilium, but on the road to it: genetic interaction network in polycystic kidney and liver diseases and how trafficking and quality control matter J Hepatol 56, 1201-3.
C. Bergmann (2012) Educational paper: ciliopathies Eur J Pediatr 171, 1285-300.
I Vogl; S Eck; AB Pages; PA Greif; K Hirv; S Kotschote; M Kuhn; A Gehring; C Bergmann; HJ Bolz; M Stuhrmann; S Biskup; K Metzeler; HG Klein (2012) Diagnostic applications of next generation sequencing - working towards quality standards J Lab Med.
C Bergmann (2012) Ciliopathies Eur J Pediatr.
C Bergmann (2012) Clinical and genetic spectrum of cilia-related disorders (ciliopathies) Pädiatr Praxis 78, 493-506.
C. Bergmann, J. von Bothmer, N. Ortiz Bruchle, A. Venghaus, V. Frank, H. Fehrenbach, T. Hampel, L. Pape, A. Buske, J. Jonsson, N. Sarioglu, A. Santos, J. C. Ferreira, J. U. Becker, R. Cremer, J. Hoefele, M. R. Benz, L. T. Weber, R. Buettner and K. Zerres (2011) Mutations in multiple PKD genes may explain early and severe polycystic kidney disease J Am Soc Nephrol 22, 2047-56.
T. K. Hoffmann, S. Trellakis, K. Okulicz, P. Schuler, J. Greve, J. Arnolds, C. Bergmann, M. Bas, S. Lang, G. Lehnerdt, S. Brandau, S. Mattheis, K. Scheckenbach, O. J. Finn, T. L. Whiteside and E. Sonkoly (2011) Cyclin B1 expression and p53 status in squamous cell carcinomas of the head and neck Anticancer Res 31, 3151-7.
C. Bergmann, M. Paulus and P. Fikkert (2011) Preschoolers' comprehension of pronouns and reflexives: the impact of the task J Child Lang, 1-27.
C. Bergmann, C. A. Wild, M. Narwan, R. Lotfi, S. Lang and S. Brandau (2011) Human tumor-induced and naturally occurring Treg cells differentially affect NK cells activated by either IL-2 or target cells Eur J Immunol 41, 3564-73.
C. Bergmann (2011) Educational paper : Ciliopathies Eur J Pediatr.
C. Bergmann, A. Akhmetshina, C. Dees, K. Palumbo, P. Zerr, C. Beyer, J. Zwerina, O. Distler, G. Schett and J. H. Distler (2011) Inhibition of glycogen synthase kinase 3beta induces dermal fibrosis by activation of the canonical Wnt pathway Ann Rheum Dis 70, 2191-8.
M. Chaki, J. Hoefele, S. J. Allen, G. Ramaswami, S. Janssen, C. Bergmann, J. R. Heckenlively, E. A. Otto and F. Hildebrandt (2011) Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies Kidney Int 80, 1239-45.
C. Bergmann, H. S. Bachmann, A. Bankfalvi, R. Lotfi, C. Putter, C. A. Wild, P. J. Schuler, J. Greve, T. K. Hoffmann, S. Lang, A. Scherag and G. F. Lehnerdt (2011) Toll-like receptor 4 single-nucleotide polymorphisms Asp299Gly and Thr399Ile in head and neck squamous cell carcinomas J Transl Med 9, 139.
W. E. Dowdle, J. F. Robinson, A. Kneist, M. S. Sirerol-Piquer, S. G. Frints, K. C. Corbit, N. A. Zaghloul, G. van Lijnschoten, L. Mulders, D. E. Verver, K. Zerres, R. R. Reed, T. Attie-Bitach, C. A. Johnson, J. M. Garcia-Verdugo, N. Katsanis, C. Bergmann and J. F. Reiter (2011) Disruption of a ciliary B9 protein complex causes Meckel syndrome Am J Hum Genet 89, 94-110.
M. Fassbender, C. Strobel, J. S. Rauhe, C. Bergmann, G. Schmidmaier and B. Wildemann (2011) Local inhibition of angiogenesis results in an atrophic non-union in a rat osteotomy model Eur Cell Mater 22, 1-11.
P. J. Schuler, V. Borger, E. Bolke, D. Habermehl, C. Matuschek, C. A. Wild, J. Greve, M. Bas, B. Schilling, C. Bergmann, S. Trellakis, W. Budach, T. Gauler, S. Brandau, S. Lang, T. L. Whiteside, R. V. Sorg and T. K. Hoffmann (2011) Dendritic cell generation and CD4+ CD25high FOXP3+ regulatory t cells in human head and neck carcinoma during radio-chemotherapy Eur J Med Res 16, 57-62.
C. Bergmann, M. Wobser, H. Morbach, A. Falkenbach, D. Wittenhagen, L. Lassay, H. Ott, K. Zerres, H. J. Girschick and H. Hamm (2011) Primary hypertrophic osteoarthropathy with digital clubbing and palmoplantar hyperhidrosis caused by 15-PGHD/HPGD loss-of-function mutations Exp Dermatol 20, 531-3.
R. B. Mars, S. Jbabdi, J. Sallet, J. X. O'Reilly, P. L. Croxson, E. Olivier, M. P. Noonan, C. Bergmann, A. S. Mitchell, M. G. Baxter, T. E. Behrens, H. Johansen-Berg, V. Tomassini, K. L. Miller and M. F. Rushworth (2011) Diffusion-weighted imaging tractography-based parcellation of the human parietal cortex and comparison with human and macaque resting-state functional connectivity J Neurosci 31, 4087-100.
R. Salonen, M. Kestila and C. Bergmann (2011) Clinical utility gene card for: Meckel syndrome Eur J Hum Genet 19.
J. Becker; O. Semler; C. Gilissen; Y. Li; H. J. Bolz; C. Giunta; C. Bergmann; M. Rohrbach; F. Koerber; K. Zimmermann; P. de Vries; B. Wirth; E. Schoenau; B. Wollnik; J. A. Veltman; A. Hoischen; C. Netzer (2011) Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta Am J Hum Genet 88, 362-71.
K. Schickle, K. Zurlinden, C. Bergmann, M. Lindner, A. Kirsten, M. Laub, R. Telle, H. Jennissen and H. Fischer (2011) Synthesis of novel tricalcium phosphate-bioactive glass composite and functionalization with rhBMP-2 J Mater Sci Mater Med 22, 763-71.
E. E. Davis, Q. Zhang, Q. Liu, B. H. Diplas, L. M. Davey, J. Hartley, C. Stoetzel, K. Szymanska, G. Ramaswami, C. V. Logan, D. M. Muzny, A. C. Young, D. A. Wheeler, P. Cruz, M. Morgan, L. R. Lewis, P. Cherukuri, B. Maskeri, N. F. Hansen, J. C. Mullikin, R. W. Blakesley, G. G. Bouffard, G. Gyapay, S. Rieger, B. Tonshoff, I. Kern, N. A. Soliman, T. J. Neuhaus, K. J. Swoboda, H. Kayserili, T. E. Gallagher, R. A. Lewis, C. Bergmann, E. A. Otto, S. Saunier, P. J. Scambler, P. L. Beales, J. G. Gleeson, E. R. Maher, T. Attie-Bitach, H. Dollfus, C. A. Johnson, E. D. Green, R. A. Gibbs, F. Hildebrandt, E. A. Pierce and N. Katsanis (2011) TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum Nat Genet 43, 189-96.
E. A. Otto; G. Ramaswami; S. Janssen; M. Chaki; S. J. Allen; W. Zhou; R. Airik; T. W. Hurd; A. K. Ghosh; M. T. Wolf; B. Hoppe; T. J. Neuhaus; D. Bockenhauer; D. V. Milford; N. A. Soliman; C. Antignac; S. Saunier; C. A. Johnson; F. Hildebrandt (2011) Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy J Med Genet 48, 105-16.
C. Bergmann, S. Spranger, P. Javaher and M. Ptok (2011) Genitopatellar syndrome, sensorineural hearing loss, and cleft palate Oral Maxillofac Surg 15, 103-6.
J. P. Drenth, M. Chrispijn and C. Bergmann (2010) Congenital fibrocystic liver diseases Best Pract Res Clin Gastroenterol 24, 573-84.
M. Alberer; J. Hoefele; C. Bergmann; S. Hartrampf; J. Hilberath; I. Pawlita; M. H. Albert; M. R. Benz; L. T. Weber; I. Schmid (2010) Reduced methotrexate clearance and renal impairment in a boy with osteosarcoma and earlier undetected autosomal dominant polycystic kidney disease (ADPKD) J Pediatr Hematol Oncol 32, e314-6.
E. A. Otto, T. W. Hurd, R. Airik, M. Chaki, W. Zhou, C. Stoetzel, S. B. Patil, S. Levy, A. K. Ghosh, C. A. Murga-Zamalloa, J. van Reeuwijk, S. J. Letteboer, L. Sang, R. H. Giles, Q. Liu, K. L. Coene, A. Estrada-Cuzcano, R. W. Collin, H. M. McLaughlin, S. Held, J. M. Kasanuki, G. Ramaswami, J. Conte, I. Lopez, J. Washburn, J. Macdonald, J. Hu, Y. Yamashita, E. R. Maher, L. M. Guay-Woodford, H. P. Neumann, N. Obermuller, R. K. Koenekoop, C. Bergmann, X. Bei, R. A. Lewis, N. Katsanis, V. Lopes, D. S. Williams, R. H. Lyons, C. V. Dang, D. A. Brito, M. B. Dias, X. Zhang, J. D. Cavalcoli, G. Nurnberg, P. Nurnberg, E. A. Pierce, P. K. Jackson, C. Antignac, S. Saunier, R. Roepman, H. Dollfus, H. Khanna and F. Hildebrandt (2010) Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy Nat Genet 42, 840-50.
M. Liu; S. Shi; S. Senthilnathan; J. Yu; E. Wu; C. Bergmann; K. Zerres; N. Bogdanova; E. Coto; C. Deltas; A. Pierides; K. Demetriou; O. Devuyst; B. Gitomer; M. Laakso; A. Lumiaho; K. Lamnissou; R. Magistroni; P. Parfrey; M. Breuning; D. J. Peters; R. Torra; C. G. Winearls; V. E. Torres; P. C. Harris; A. D. Paterson; Y. Pei (2010) Genetic variation of DKK3 may modify renal disease severity in ADPKD J Am Soc Nephrol 21, 1510-20.
J. U. Becker; A. Opazo Saez; K. Zerres; O. Witzke; P. F. Hoyer; K. W. Schmid; A. Kribben; C. Bergmann; J. Nurnberger (2010) The mTOR pathway is activated in human autosomal-recessive polycystic kidney disease Kidney Blood Press Res 33, 129-38.
U. Vester; B. Kranz; C. Bergmann (2010) Von Nierenzysten und Zystennieren Päd Hautnah 2, 92-98.
N Ortiz Brüchle; A Venghaus; J von Bothmer; S Rudnik-Schöneborn; T Eggermann; C Bergmann; K Zerres (2010) Zystennieren-eine Übersicht MedGenet.
H. Khanna; E. E. Davis; C. A. Murga-Zamalloa; A. Estrada-Cuzcano; I. Lopez; A. I. den Hollander; M. N. Zonneveld; M. I. Othman; N. Waseem; C. F. Chakarova; C. Maubaret; A. Diaz-Font; I. MacDonald; D. M. Muzny; D. A. Wheeler; M. Morgan; L. R. Lewis; C. V. Logan; P. L. Tan; M. A. Beer; C. F. Inglehearn; R. A. Lewis; S. G. Jacobson; C. Bergmann; P. L. Beales; T. Attie-Bitach; C. A. Johnson; E. A. Otto; S. S. Bhattacharya; F. Hildebrandt; R. A. Gibbs; R. K. Koenekoop; A. Swaroop; N. Katsanis (2009) A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies Nat Genet 41, 739-45.
J. Senderek; S. M. Garvey; M. Krieger; V. Guergueltcheva; A. Urtizberea; A. Roos; M. Elbracht; C. Stendel; I. Tournev; V. Mihailova; H. Feit; J. Tramonte; P. Hedera; K. Crooks; C. Bergmann; S. Rudnik-Schoneborn; K. Zerres; H. Lochmuller; E. Seboun; J. Weis; J. S. Beckmann; M. A. Hauser; C. E. Jackson (2009) Autosomal-dominant distal myopathy associated with a recurrent missense mutation in the gene encoding the nuclear matrix protein, matrin 3 Am J Hum Genet 84, 511-8.
D. C. Fischer; U. Jacoby; L. Pape; C. J. Ward; E. Kuwertz-Broeking; C. Renken; H. Nizze; U. Querfeld; B. Rudolph; D. E. Mueller-Wiefel; C. Bergmann; D. Haffner (2009) Activation of the AKT/mTOR pathway in autosomal recessive polycystic kidney disease (ARPKD) Nephrol Dial Transplant 24, 1819-27.
C. Bergmann; N. O. Bruchle; V. Frank; H. Rehder; K. Zerres (2008) Perinatal deaths in a family with autosomal dominant polycystic kidney disease and a PKD2 mutation N Engl J Med 359, 318-9.
A. Arbeiter; R. Buscher; K. E. Bonzel; A. M. Wingen; U. Vester; J. Wohlschlager; K. Zerres; J. Nurnberger; C. Bergmann; P. F. Hoyer (2008) Nephrectomy in an autosomal recessive polycystic kidney disease (ARPKD) patient with rapid kidney enlargement and increased expression of EGFR Nephrol Dial Transplant 23, 3026-9.
K. Brakensiek; H. Frye-Boukhriss; M. Malzer; M. Abramowicz; M. J. Bahr; N. von Beckerath; C. Bergmann; M. Caselitz; E. Holinski-Feder; P. Muschke; K. Oexle; G. Strobl-Wildemann; G. Wolff; E. A. El-Harith; M. Stuhrmann (2008) Detection of a significant association between mutations in the ACVRL1 gene and hepatic involvement in German patients with hereditary haemorrhagic telangiectasia Clin Genet 74, 171-7.
P. J. Kaisaki; C. Bergmann; J. H. Brown; P. Outeda; X. M. Lens; D. J. Peters; N. Gretz; D. Gauguier; M. T. Bihoreau (2008) Genomic organization and mutation screening of the human ortholog of Pkdr1 associated with polycystic kidney disease in the rat Eur J Med Genet 51, 325-31.
C. Bergmann, M. Fliegauf, N. O. Bruchle, V. Frank, H. Olbrich, J. Kirschner, B. Schermer, I. Schmedding, A. Kispert, B. Kranzlin, G. Nurnberg, C. Becker, T. Grimm, G. Girschick, S. A. Lynch, P. Kelehan, J. Senderek, T. J. Neuhaus, T. Stallmach, H. Zentgraf, P. Nurnberg, N. Gretz, C. Lo, S. Lienkamp, T. Schafer, G. Walz, T. Benzing, K. Zerres and H. Omran (2008) Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia Am J Hum Genet 82, 959-70.
N. O. Bruchle; J. Frank; V. Frank; J. Senderek; A. Akar; E. Koc; D. Rigopoulos; M. van Steensel; K. Zerres; C. Bergmann (2008) RSPO4 is the major gene in autosomal-recessive anonychia and mutations cluster in the furin-like cysteine-rich domains of the Wnt signaling ligand R-spondin 4 J Invest Dermatol 128, 791-6.
V. Frank, A. I. den Hollander, N. O. Bruchle, M. N. Zonneveld, G. Nurnberg, C. Becker, G. Du Bois, H. Kendziorra, S. Roosing, J. Senderek, P. Nurnberg, F. P. Cremers, K. Zerres and C. Bergmann (2008) Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome Hum Mutat 29, 45-52.
G. Rice; T. Patrick; R. Parmar; C. F. Taylor; A. Aeby; J. Aicardi; R. Artuch; S. A. Montalto; C. A. Bacino; B. Barroso; P. Baxter; W. S. Benko; C. Bergmann; E. Bertini; R. Biancheri; E. M. Blair; N. Blau; D. T. Bonthron; T. Briggs; L. A. Brueton; H. G. Brunner; C. J. Burke; I. M. Carr; D. R. Carvalho; K. E. Chandler; H. J. Christen; P. C. Corry; F. M. Cowan; H. Cox; S. D'Arrigo; J. Dean; C. De Laet; C. De Praeter; C. Dery; C. D. Ferrie; K. Flintoff; S. G. Frints; A. Garcia-Cazorla; B. Gener; C. Goizet; F. Goutieres; A. J. Green; A. Guet; B. C. Hamel; B. E. Hayward; A. Heiberg; R. C. Hennekam; M. Husson; A. P. Jackson; R. Jayatunga; Y. H. Jiang; S. G. Kant; A. Kao; M. D. King; H. M. Kingston; J. Klepper; M. S. van der Knaap; A. J. Kornberg; D. Kotzot; W. Kratzer; D. Lacombe; L. Lagae; P. G. Landrieu; G. Lanzi; A. Leitch; M. J. Lim; J. H. Livingston; C. M. Lourenco; E. G. Lyall; S. A. Lynch; M. J. Lyons; D. Marom; J. P. McClure; R. McWilliam; S. B. Melancon; L. D. Mewasingh; M. L. Moutard; K. K. Nischal; J. R. Ostergaard; J. Prendiville; M. Rasmussen; R. C. Rogers; D. Roland; E. M. Rosser; K. Rostasy; A. Roubertie; A. Sanchis; R. Schiffmann; S. Scholl-Burgi; S. Seal; S. A. Shalev; C. S. Corcoles; G. P. Sinha; D. Soler; R. Spiegel; J. B. Stephenson; U. Tacke; T. Y. Tan; M. Till; J. L. Tolmie, et al. (2007) Clinical and molecular phenotype of Aicardi-Goutieres syndrome Am J Hum Genet 81, 713-25.
C. Bergmann and K. Zerres (2007) Early manifestations of polycystic kidney disease Lancet 369, 2157.
C. S. Seitz; M. van Steensel; J. Frank; J. Senderek; K. Zerres; H. Hamm; C. Bergmann (2007) The Wnt signalling ligand RSPO4, causing inherited anonychia, is not mutated in a patient with congenital nail hypoplasia/aplasia with underlying skeletal defects Br J Dermatol 157, 801-2.
C. Stendel; A. Roos; T. Deconinck; J. Pereira; F. Castagner; A. Niemann; J. Kirschner; R. Korinthenberg; U. P. Ketelsen; E. Battaloglu; Y. Parman; G. Nicholson; R. Ouvrier; J. Seeger; P. De Jonghe; J. Weis; A. Kruttgen; S. Rudnik-Schoneborn; C. Bergmann; U. Suter; K. Zerres; V. Timmerman; J. B. Relvas; J. Senderek (2007) Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4 Am J Hum Genet 81, 158-64.
V. Frank, N. Ortiz Bruchle, S. Mager, S. G. Frints, A. Bohring, G. du Bois, I. Debatin, H. Seidel, J. Senderek, N. Besbas, U. Todt, C. Kubisch, T. Grimm, F. Teksen, S. Balci, K. Zerres and C. Bergmann (2007) Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel-Gruber syndrome Hum Mutat 28, 638-9.
B. Karges; C. Bergmann; K. Scholl; E. Heinze; F. M. Rasche; K. Zerres; K. M. Debatin; M. Wabitsch; W. Karges (2007) Digenic inheritance of hepatocyte nuclear factor-1alpha and -1beta with maturity-onset diabetes of the young, polycystic thyroid, and urogenital malformations Diabetes Care 30, 1613-4.
C. Bergmann; J. Senderek; D. Anhuf; C. T. Thiel; A. B. Ekici; P. Poblete-Gutierrez; M. van Steensel; D. Seelow; G. Nurnberg; H. H. Schild; P. Nurnberg; A. Reis; J. Frank; K. Zerres (2006) Mutations in the gene encoding the Wnt-signaling component R-spondin 4 (RSPO4) cause autosomal recessive anonychia Am J Hum Genet 79, 1105-9.
C. Bergmann, V. Frank, F. Kupper, C. Schmidt, J. Senderek and K. Zerres (2006) Functional analysis of PKHD1 splicing in autosomal recessive polycystic kidney disease J Hum Genet 51, 788-93.
C. Bergmann; V. Frank; F. Kupper; D. Kamitz; J. Hanten; P. Berges; S. Mager; M. Moser; J. Kirfel; R. Buttner; J. Senderek; K. Zerres (2006) Diagnosis, pathogenesis, and treatment prospects in cystic kidney disease Mol Diagn Ther 10, 163-74.
J. Kirfel; J. Senderek; M. Moser; A. Roper; C. Stendel; C. Bergmann; K. Zerres; R. Buettner (2006) Cloning, expression and characterization of the murine orthologue of SBF2, the gene mutated in Charcot-Marie-Tooth disease type 4B2 Gene Expr Patterns 6, 978-84.
M. Prelog, C. Bergmann, M. J. Ausserlechner, H. Fischer, R. Margreiter, I. Gassner, A. Brunner, T. C. Jungraithmayr, K. Zerres, C. Sergi and L. B. Zimmerhackl (2006) Successful transplantation in a child with rapid progression of autosomal recessive polycystic kidney disease associated with a novel mutation Pediatr Transplant 10, 362-6.
K. Janssens; F. Vanhoenacker; M. Bonduelle; L. Verbruggen; L. Van Maldergem; S. Ralston; N. Guanabens; N. Migone; S. Wientroub; M. T. Divizia; C. Bergmann; C. Bennett; S. Simsek; S. Melancon; T. Cundy; W. Van Hul (2006) Camurati-Engelmann disease: review of the clinical, radiological, and molecular data of 24 families and implications for diagnosis and treatment J Med Genet 43, 1-11.
J. Senderek; M. Krieger; C. Stendel; C. Bergmann; M. Moser; N. Breitbach-Faller; S. Rudnik-Schoneborn; A. Blaschek; N. I. Wolf; I. Harting; K. North; J. Smith; F. Muntoni; M. Brockington; S. Quijano-Roy; F. Renault; R. Herrmann; L. M. Hendershot; J. M. Schroder; H. Lochmuller; H. Topaloglu; T. Voit; J. Weis; F. Ebinger; K. Zerres (2005) Mutations in SIL1 cause Marinesco-Sjogren syndrome, a cerebellar ataxia with cataract and myopathy Nat Genet 37, 1312-4.
C. Bergmann, F. Kupper, C. P. Schmitt, U. Vester, T. J. Neuhaus, J. Senderek and K. Zerres (2005) Multi-exon deletions of the PKHD1 gene cause autosomal recessive polycystic kidney disease (ARPKD) J Med Genet 42, e63.
H. Y. Kroes; R. J. Nievelstein; P. G. Barth; P. G. Nikkels; C. Bergmann; R. H. Gooskens; G. Visser; H. K. van Amstel; F. A. Beemer (2005) Cerebral, cerebellar, and colobomatous anomalies in three related males: Sex-linked inheritance in a newly recognized syndrome with features overlapping with Joubert syndrome Am J Med Genet A 135, 297-301.
M. Moser; S. Matthiesen; J. Kirfel; H. Schorle; C. Bergmann; J. Senderek; S. Rudnik-Schoneborn; K. Zerres; R. Buettner (2005) A mouse model for cystic biliary dysgenesis in autosomal recessive polycystic kidney disease (ARPKD) Hepatology 41, 1113-21.
C. Bergmann; F. Kupper; C. Dornia; F. Schneider; J. Senderek; K. Zerres (2005) Algorithm for efficient PKHD1 mutation screening in autosomal recessive polycystic kidney disease (ARPKD) Hum Mutat 25, 225-31.
C. Bergmann, J. Senderek, E. Windelen, F. Kupper, I. Middeldorf, F. Schneider, C. Dornia, S. Rudnik-Schoneborn, M. Konrad, C. P. Schmitt, T. Seeman, T. J. Neuhaus, U. Vester, J. Kirfel, R. Buttner and K. Zerres (2005) Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD) Kidney Int 67, 829-48.
K. Eggermann; C. Bergmann; I. Heil; T. Eggermann; K. Zerres; H. M. Schuler (2005) Rare proximal interstitial deletion of chromosome 4q, del(4)(q13.2q21.22): New case and comparison with the literature Am J Med Genet A 134A, 226-8.
S Rudnik-Schöneborn; J Senderek; C Bergmann; T Eggermann; K Zerres (2005) Diagnostik der Charcot-Marie-Tooth-Neuropathien Medgen 17, 444-452.
F. L. Conforti; M. Muglia; R. Mazzei; A. Patitucci; P. Valentino; A. Magariello; T. Sprovieri; F. Bono; C. Bergmann; A. L. Gabriele; G. Peluso; R. Nistico; J. Senderek; A. Quattrone (2004) A new SBF2 mutation in a family with recessive demyelinating Charcot-Marie-Tooth (CMT4B2) Neurology 63, 1327-8.
K. Zerres; J. Senderek; S. Rudnik-Schoneborn; T. Eggermann; J. Kunze; T. Mononen; H. Kaariainen; J. Kirfel; M. Moser; R. Buettner; C. Bergmann (2004) New options for prenatal diagnosis in autosomal recessive polycystic kidney disease by mutation analysis of the PKHD1 gene Clin Genet 66, 53-7.
C. Bergmann, J. Senderek, F. Schneider, C. Dornia, F. Kupper, T. Eggermann, S. Rudnik-Schoneborn, J. Kirfel, M. Moser, R. Buttner and K. Zerres (2004) PKHD1 mutations in families requesting prenatal diagnosis for autosomal recessive polycystic kidney disease (ARPKD) Hum Mutat 23, 487-95.
C. Bergmann, J. Senderek, F. Kupper, F. Schneider, C. Dornia, E. Windelen, T. Eggermann, S. Rudnik-Schoneborn, J. Kirfel, L. Furu, L. F. Onuchic, S. Rossetti, P. C. Harris, S. Somlo, L. Guay-Woodford, G. G. Germino, M. Moser, R. Buttner and K. Zerres (2004) PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD) Hum Mutat 23, 453-63.
J. Fiedler; C. Bergmann; R. E. Brenner (2003) X-linked spondyloepiphyseal dysplasia tarda: molecular cause of a heritable disorder associated with early degenerative joint disease Acta Orthop Scand 74, 737-41.
J. Senderek; C. Bergmann; C. Stendel; J. Kirfel; N. Verpoorten; P. De Jonghe; V. Timmerman; R. Chrast; M. H. Verheijen; G. Lemke; E. Battaloglu; Y. Parman; S. Erdem; E. Tan; H. Topaloglu; A. Hahn; W. Muller-Felber; N. Rizzuto; G. M. Fabrizi; M. Stuhrmann; S. Rudnik-Schoneborn; S. Zuchner; J. Michael Schroder; E. Buchheim; V. Straub; J. Klepper; K. Huehne; B. Rautenstrauss; R. Buttner; E. Nelis; K. Zerres (2003) Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy Am J Hum Genet 73, 1106-19.
C. Bergmann; K. Zerres; T. Peschgens; J. Senderek; H. Hornchen; S. Rudnik-Schoneborn (2003) Overlap between VACTERL and hemifacial microsomia illustrating a spectrum of malformations seen in axial mesodermal dysplasia complex (AMDC) Am J Med Genet A 121A, 151-5.
L. Furu, L. F. Onuchic, A. Gharavi, X. Hou, E. L. Esquivel, Y. Nagasawa, C. Bergmann, J. Senderek, E. Avner, K. Zerres, G. G. Germino, L. M. Guay-Woodford and S. Somlo (2003) Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutations J Am Soc Nephrol 14, 2004-14.
K. Zerres, S. Rudnik-Schoneborn, J. Senderek, T. Eggermann and C. Bergmann (2003) Autosomal recessive polycystic kidney disease (ARPKD) J Nephrol 16, 453-8.
C. Bergmann; K. Zerres; J. Senderek; S. Rudnik-Schoneborn; T. Eggermann; M. Hausler; M. Mull; V. T. Ramaekers (2003) Oligophrenin 1 (OPHN1) gene mutation causes syndromic X-linked mental retardation with epilepsy, rostral ventricular enlargement and cerebellar hypoplasia Brain 126, 1537-44.
C. O. Hanemann; C. Bergmann; J. Senderek; K. Zerres; A. D. Sperfeld (2003) Transient, recurrent, white matter lesions in X-linked Charcot-Marie-Tooth disease with novel connexin 32 mutation Arch Neurol 60, 605-9.
J. Senderek; C. Bergmann; V. T. Ramaekers; E. Nelis; G. Bernert; A. Makowski; S. Zuchner; P. De Jonghe; S. Rudnik-Schoneborn; K. Zerres; J. M. Schroder (2003) Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy Brain 126, 642-9.
J. Senderek; C. Bergmann; S. Weber; U. P. Ketelsen; H. Schorle; S. Rudnik-Schoneborn; R. Buttner; E. Buchheim; K. Zerres (2003) Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot-Marie-Tooth neuropathy type 4B2/11p15 Hum Mol Genet 12, 349-56.
C. Bergmann, J. Senderek, B. Sedlacek, I. Pegiazoglou, P. Puglia, T. Eggermann, S. Rudnik-Schoneborn, L. Furu, L. F. Onuchic, M. De Baca, G. G. Germino, L. Guay-Woodford, S. Somlo, M. Moser, R. Buttner and K. Zerres (2003) Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1) J Am Soc Nephrol 14, 76-89.
K. Janssens; P. ten Dijke; S. H. Ralston; C. Bergmann; W. Van Hul (2003) Transforming growth factor-beta 1 mutations in Camurati-Engelmann disease lead to increased signaling by altering either activation or secretion of the mutant protein J Biol Chem 278, 7718-24.
C. Bergmann; K. Zerres; S. Rudnik-Schoneborn; T. Eggermann; J. M. Schroder; J. Senderek (2002) Allelic variants in the 5' non-coding region of the connexin32 gene: possible pitfalls in the diagnosis of X linked Charcot-Marie-Tooth neuropathy (CMTX) J Med Genet 39, e58.
Y. Nagasawa, S. Matthiesen, L. F. Onuchic, X. Hou, C. Bergmann, E. Esquivel, J. Senderek, Z. Ren, R. Zeltner, L. Furu, E. Avner, M. Moser, S. Somlo, L. Guay-Woodford, R. Buttner, K. Zerres and G. G. Germino (2002) Identification and characterization of Pkhd1, the mouse orthologue of the human ARPKD gene J Am Soc Nephrol 13, 2246-58.
L. F. Onuchic; M. Mrug; X. Hou; T. Eggermann; C. Bergmann; K. Zerres; E. D. Avner; L. Furu; S. Somlo; Y. Nagasawa; G. G. Germino; L. M. Guay-Woodford (2002) Refinement of the autosomal recessive polycystic kidney disease (PKHD1) interval and exclusion of an EF hand-containing gene as a PKHD1 candidate gene Am J Med Genet 110, 346-52.
L. F. Onuchic; L. Furu; Y. Nagasawa; X. Hou; T. Eggermann; Z. Ren; C. Bergmann; J. Senderek; E. Esquivel; R. Zeltner; S. Rudnik-Schoneborn; M. Mrug; W. Sweeney; E. D. Avner; K. Zerres; L. M. Guay-Woodford; S. Somlo; G. G. Germino (2002) PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeats Am J Hum Genet 70, 1305-17.
J. Senderek; V. T. Ramaekers; K. Zerres; S. Rudnik-Schoneborn; J. M. Schroder; C. Bergmann (2001) Phenotypic variation of a novel nonsense mutation in the P0 intracellular domain J Neurol Sci 192, 49-51.
V. T. Ramaekers; J. Senderek; M. Hausler; M. Haring; N. Abeling; K. Zerres; C. Bergmann; G. Heimann; N. Blau (2001) A novel neurodevelopmental syndrome responsive to 5-hydroxytryptophan and carbidopa Mol Genet Metab 73, 179-87.
C. Bergmann; J. M. Schroder; S. Rudnik-Schoneborn; K. Zerres; J. Senderek (2001) A point mutation in the human connexin32 promoter P2 does not correlate with X-linked dominant Charcot-Marie-Tooth neuropathy in Germany Brain Res Mol Brain Res 88, 183-5.
C. Bergmann; J. Senderek; B. Hermanns; A. Jauch; B. Janssen; J. M. Schroder; D. Karch (2000) Becker muscular dystrophy combined with X-linked Charcot-Marie-Tooth neuropathy Muscle Nerve 23, 818-23.
J. Senderek; B. Hermanns; U. Lehmann; C. Bergmann; G. Marx; C. Kabus; V. Timmerman; G. Stoltenburg-Didinger; J. M. Schroder (2000) Charcot-Marie-Tooth neuropathy type 2 and P0 point mutations: two novel amino acid substitutions (Asp61Gly; Tyr119Cys) and a possible "hotspot" on Thr124Met Brain Pathol 10, 235-48.
J. Senderek; B. Hermanns; C. Bergmann; B. Boroojerdi; M. Bajbouj; M. Hungs; V. T. Ramaekers; S. Quasthoff; D. Karch; J. M. Schroder (1999) X-linked dominant Charcot-Marie-Tooth neuropathy: clinical, electrophysiological, and morphological phenotype in four families with different connexin32 mutations(1) J Neurol Sci 167, 90-101.
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