Publications

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.
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
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) 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.
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 (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. 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.
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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