Kubisch C - Search Results

1

STIL mutation causes autosomal recessive microcephalic lobar holoprosencephaly.

Kakar N, Ahmad J, Morris-Rosendahl DJ, Altmüller J, Friedrich K, Barbi G, Nürnberg P, Kubisch C, Dobyns WB, Borck G. Kakar N, et al. Among authors: kubisch c. Hum Genet. 2015 Jan;134(1):45-51. doi: 10.1007/s00439-014-1487-4. Epub 2014 Sep 14. Hum Genet. 2015. PMID: 25218063

2

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

3

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

4

Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel-Gruber syndrome.

Frank V, Ortiz Brüchle N, Mager S, Frints SG, Bohring A, du Bois G, Debatin I, Seidel H, Senderek J, Besbas N, Todt U, Kubisch C, Grimm T, Teksen F, Balci S, Zerres K, Bergmann C. Frank V, et al. Among authors: kubisch c. Hum Mutat. 2007 Jun;28(6):638-9. doi: 10.1002/humu.9496. Hum Mutat. 2007. PMID: 17437276

5

Severe mental retardation with breathing abnormalities (Pitt-Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4.

Brockschmidt A, Todt U, Ryu S, Hoischen A, Landwehr C, Birnbaum S, Frenck W, Radlwimmer B, Lichter P, Engels H, Driever W, Kubisch C, Weber RG. Brockschmidt A, et al. Among authors: kubisch c. Hum Mol Genet. 2007 Jun 15;16(12):1488-94. doi: 10.1093/hmg/ddm099. Epub 2007 May 3. Hum Mol Genet. 2007. PMID: 17478476

6

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

7

A novel mutation in the Espin gene causes autosomal recessive nonsyndromic hearing loss but no apparent vestibular dysfunction in a Moroccan family.

Boulouiz R, Li Y, Soualhine H, Abidi O, Chafik A, Nürnberg G, Becker C, Nürnberg P, Kubisch C, Wollnik B, Barakat A. Boulouiz R, et al. Among authors: kubisch c. Am J Med Genet A. 2008 Dec 1;146A(23):3086-9. doi: 10.1002/ajmg.a.32525. Am J Med Genet A. 2008. PMID: 18973245 No abstract available.

8

A novel HSF4 gene mutation (p.R405X) causing autosomal recessive congenital cataracts in a large consanguineous family from Pakistan.

Sajjad N, Goebel I, Kakar N, Cheema AM, Kubisch C, Ahmad J. Sajjad N, et al. Among authors: kubisch c. BMC Med Genet. 2008 Nov 11;9:99. doi: 10.1186/1471-2350-9-99. BMC Med Genet. 2008. PMID: 19014451 Free PMC article.

9

New genetic evidence for involvement of the dopamine system in migraine with aura.

Todt U, Netzer C, Toliat M, Heinze A, Goebel I, Nürnberg P, Göbel H, Freudenberg J, Kubisch C. Todt U, et al. Among authors: kubisch c. Hum Genet. 2009 Apr;125(3):265-79. doi: 10.1007/s00439-009-0623-z. Epub 2009 Jan 17. Hum Genet. 2009. PMID: 19152006

10

A mutation in the signal sequence of LRP5 in a family with an osteoporosis-pseudoglioma syndrome (OPPG)-like phenotype indicates a novel disease mechanism for trinucleotide repeats.

Chung BD, Kayserili H, Ai M, Freudenberg J, Uzümcü A, Uyguner O, Bartels CF, Höning S, Ramirez A, Hanisch FG, Nürnberg G, Nürnberg P, Warman ML, Wollnik B, Kubisch C, Netzer C. Chung BD, et al. Among authors: kubisch c. Hum Mutat. 2009 Apr;30(4):641-8. doi: 10.1002/humu.20916. Hum Mutat. 2009. PMID: 19177549

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