Kubisch C - Search Results

1

Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42.

Borck G, Ur Rehman A, Lee K, Pogoda HM, Kakar N, von Ameln S, Grillet N, Hildebrand MS, Ahmed ZM, Nürnberg G, Ansar M, Basit S, Javed Q, Morell RJ, Nasreen N, Shearer AE, Ahmad A, Kahrizi K, Shaikh RS, Ali RA, Khan SN, Goebel I, Meyer NC, Kimberling WJ, Webster JA, Stephan DA, Schiller MR, Bahlo M, Najmabadi H, Gillespie PG, Nürnberg P, Wollnik B, Riazuddin S, Smith RJ, Ahmad W, Müller U, Hammerschmidt M, Friedman TB, Riazuddin S, Leal SM, Ahmad J, Kubisch C. Borck G, et al. Among authors: kubisch c. Am J Hum Genet. 2011 Feb 11;88(2):127-37. doi: 10.1016/j.ajhg.2010.12.011. Epub 2011 Jan 20. Am J Hum Genet. 2011. PMID: 21255762 Free PMC article.

2

Identification of functionally important regions of the muscular chloride channel CIC-1 by analysis of recessive and dominant myotonic mutations.

Wollnik B, Kubisch C, Steinmeyer K, Pusch M. Wollnik B, et al. Among authors: kubisch c. Hum Mol Genet. 1997 May;6(5):805-11. doi: 10.1093/hmg/6.5.805. Hum Mol Genet. 1997. PMID: 9158157

3

Pathophysiological mechanisms of dominant and recessive KVLQT1 K+ channel mutations found in inherited cardiac arrhythmias.

Wollnik B, Schroeder BC, Kubisch C, Esperer HD, Wieacker P, Jentsch TJ. Wollnik B, et al. Among authors: kubisch c. Hum Mol Genet. 1997 Oct;6(11):1943-9. doi: 10.1093/hmg/6.11.1943. Hum Mol Genet. 1997. PMID: 9302275

4

Identification of a novel mutation in the coding region of the grey-lethal gene OSTM1 in human malignant infantile osteopetrosis.

Ramírez A, Faupel J, Goebel I, Stiller A, Beyer S, Stöckle C, Hasan C, Bode U, Kornak U, Kubisch C. Ramírez A, et al. Among authors: kubisch c. Hum Mutat. 2004 May;23(5):471-6. doi: 10.1002/humu.20028. Hum Mutat. 2004. PMID: 15108279

5

Autosomal recessive rippling muscle disease with homozygous CAV3 mutations.

Kubisch C, Ketelsen UP, Goebel I, Omran H. Kubisch C, et al. Ann Neurol. 2005 Feb;57(2):303-4. doi: 10.1002/ana.20350. Ann Neurol. 2005. PMID: 15668980 No abstract available.

6

Mutations in different components of FGF signaling in LADD syndrome.

Rohmann E, Brunner HG, Kayserili H, Uyguner O, Nürnberg G, Lew ED, Dobbie A, Eswarakumar VP, Uzumcu A, Ulubil-Emeroglu M, Leroy JG, Li Y, Becker C, Lehnerdt K, Cremers CW, Yüksel-Apak M, Nürnberg P, Kubisch C, Schlessinger J, van Bokhoven H, Wollnik B. Rohmann E, et al. Among authors: kubisch c. Nat Genet. 2006 Apr;38(4):414-7. doi: 10.1038/ng1757. Epub 2006 Feb 26. Nat Genet. 2006. PMID: 16501574

7

Haplotype-based systematic association studies of ATP1A2 in migraine with aura.

Netzer C, Todt U, Heinze A, Freudenberg J, Zumbroich V, Becker T, Goebel I, Ohlraun S, Goebel H, Kubisch C. Netzer C, et al. Among authors: kubisch c. Am J Med Genet B Neuropsychiatr Genet. 2006 Apr 5;141B(3):257-60. doi: 10.1002/ajmg.b.30283. Am J Med Genet B Neuropsychiatr Genet. 2006. PMID: 16508935

8

Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss.

Kalay E, Li Y, Uzumcu A, Uyguner O, Collin RW, Caylan R, Ulubil-Emiroglu M, Kersten FF, Hafiz G, van Wijk E, Kayserili H, Rohmann E, Wagenstaller J, Hoefsloot LH, Strom TM, Nürnberg G, Baserer N, den Hollander AI, Cremers FP, Cremers CW, Becker C, Brunner HG, Nürnberg P, Karaguzel A, Basaran S, Kubisch C, Kremer H, Wollnik B. Kalay E, et al. Among authors: kubisch c. Hum Mutat. 2006 Jul;27(7):633-9. doi: 10.1002/humu.20368. Hum Mutat. 2006. PMID: 16752389

9

Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase.

Ramirez A, Heimbach A, Gründemann J, Stiller B, Hampshire D, Cid LP, Goebel I, Mubaidin AF, Wriekat AL, Roeper J, Al-Din A, Hillmer AM, Karsak M, Liss B, Woods CG, Behrens MI, Kubisch C. Ramirez A, et al. Among authors: kubisch c. Nat Genet. 2006 Oct;38(10):1184-91. doi: 10.1038/ng1884. Epub 2006 Sep 10. Nat Genet. 2006. PMID: 16964263

10

Genetic association studies of the chromosome 15 GABA-A receptor cluster in migraine with aura.

Netzer C, Freudenberg J, Toliat MR, Heinze A, Heinze-Kuhn K, Thiele H, Goebel I, Nürnberg P, Ptácek LJ, Göbel H, Todt U, Kubisch C. Netzer C, et al. Among authors: kubisch c. Am J Med Genet B Neuropsychiatr Genet. 2008 Jan 5;147B(1):37-41. doi: 10.1002/ajmg.b.30560. Am J Med Genet B Neuropsychiatr Genet. 2008. PMID: 17680603

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