Bergmann C - Search Results

1

MKS1 mutations cause Joubert syndrome with agenesis of the corpus callosum.

Bader I, Decker E, Mayr JA, Lunzer V, Koch J, Boltshauser E, Sperl W, Pietsch P, Ertl-Wagner B, Bolz H, Bergmann C, Rittinger O. Bader I, et al. Among authors: bergmann c. Eur J Med Genet. 2016 Aug;59(8):386-91. doi: 10.1016/j.ejmg.2016.06.007. Epub 2016 Jul 1. Eur J Med Genet. 2016. PMID: 27377014 Review.

2

Tectonic gene mutations in patients with Joubert syndrome.

Huppke P, Wegener E, Böhrer-Rabel H, Bolz HJ, Zoll B, Gärtner J, Bergmann C. Huppke P, et al. Among authors: bergmann c. Eur J Hum Genet. 2015 May;23(5):616-20. doi: 10.1038/ejhg.2014.160. Epub 2014 Aug 13. Eur J Hum Genet. 2015. PMID: 25118024 Free PMC article. Review.

3

Early-onset severe retinal dystrophy as the initial presentation of IFT140-related skeletal ciliopathy.

Khan AO, Bolz HJ, Bergmann C. Khan AO, et al. Among authors: bergmann c. J AAPOS. 2014 Apr;18(2):203-5. doi: 10.1016/j.jaapos.2013.11.016. J AAPOS. 2014. PMID: 24698627

4

C8orf37 is mutated in Bardet-Biedl syndrome and constitutes a locus allelic to non-syndromic retinal dystrophies.

Khan AO, Decker E, Bachmann N, Bolz HJ, Bergmann C. Khan AO, et al. Among authors: bergmann c. Ophthalmic Genet. 2016 Sep;37(3):290-3. doi: 10.3109/13816810.2015.1066830. Epub 2016 Feb 8. Ophthalmic Genet. 2016. PMID: 26854863

5

The ciliary transition zone protein TMEM218 synergistically interacts with the NPHP module and its reduced dosage leads to a wide range of syndromic ciliopathies.

Epting D, Decker E, Ott E, Eisenberger T, Bader I, Bachmann N, Bergmann C. Epting D, et al. Among authors: bergmann c. Hum Mol Genet. 2022 Jul 21;31(14):2295-2306. doi: 10.1093/hmg/ddac027. Hum Mol Genet. 2022. PMID: 35137054

6

Targeted and genomewide NGS data disqualify mutations in MYO1A, the "DFNA48 gene", as a cause of deafness.

Eisenberger T, Di Donato N, Baig SM, Neuhaus C, Beyer A, Decker E, Mürbe D, Decker C, Bergmann C, Bolz HJ. Eisenberger T, et al. Among authors: bergmann c. Hum Mutat. 2014 May;35(5):565-70. doi: 10.1002/humu.22532. Epub 2014 Mar 31. Hum Mutat. 2014. PMID: 24616153

7

Results of fibrillin-1 gene analysis in children from inbred families with lens subluxation.

Khan AO, Bolz HJ, Bergmann C. Khan AO, et al. Among authors: bergmann c. J AAPOS. 2014 Apr;18(2):134-9. doi: 10.1016/j.jaapos.2013.11.012. J AAPOS. 2014. PMID: 24698609

8

Homozygosity for the c.428delG variant in KIAA0586 in a healthy individual: implications for molecular testing in patients with Joubert syndrome.

Pauli S, Altmüller J, Schröder S, Ohlenbusch A, Dreha-Kulaczewski S, Bergmann C, Nürnberg P, Thiele H, Li Y, Wollnik B, Brockmann K. Pauli S, et al. Among authors: bergmann c. J Med Genet. 2019 Apr;56(4):261-264. doi: 10.1136/jmedgenet-2018-105470. Epub 2018 Aug 17. J Med Genet. 2019. PMID: 30120217

9

[Genetics of congenital aniridia].

Neuhaus C, Betz C, Bergmann C, Bolz HJ. Neuhaus C, et al. Among authors: bergmann c. Ophthalmologe. 2014 Dec;111(12):1157-63. doi: 10.1007/s00347-014-3059-3. Ophthalmologe. 2014. PMID: 25475187 German.

10

Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta.

Becker J, Semler O, Gilissen C, Li Y, Bolz HJ, Giunta C, Bergmann C, Rohrbach M, Koerber F, Zimmermann K, de Vries P, Wirth B, Schoenau E, Wollnik B, Veltman JA, Hoischen A, Netzer C. Becker J, et al. Among authors: bergmann c. Am J Hum Genet. 2011 Mar 11;88(3):362-71. doi: 10.1016/j.ajhg.2011.01.015. Epub 2011 Feb 25. Am J Hum Genet. 2011. PMID: 21353196 Free PMC article.

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