Black GC - Search Results

1

Somatic mutation in MECP2 as a non-fatal neurodevelopmental disorder in males.

Clayton-Smith J, Watson P, Ramsden S, Black GC. Clayton-Smith J, et al. Among authors: black gc. Lancet. 2000 Sep 2;356(9232):830-2. doi: 10.1016/s0140-6736(00)02661-1. Lancet. 2000. PMID: 11022934

2

Locus heterogeneity in autosomal dominant congenital external ophthalmoplegia (CFEOM).

Black GC, Perveen R, Hatchwell E, Reck A, Clayton-Smith J. Black GC, et al. J Med Genet. 1998 Dec;35(12):985-8. doi: 10.1136/jmg.35.12.985. J Med Genet. 1998. PMID: 9863593 Free PMC article.

3

Coats' disease of the retina (unilateral retinal telangiectasis) caused by somatic mutation in the NDP gene: a role for norrin in retinal angiogenesis.

Black GC, Perveen R, Bonshek R, Cahill M, Clayton-Smith J, Lloyd IC, McLeod D. Black GC, et al. Hum Mol Genet. 1999 Oct;8(11):2031-5. doi: 10.1093/hmg/8.11.2031. Hum Mol Genet. 1999. PMID: 10484772

4

Phenotypic variability and asymmetry of Rieger syndrome associated with PITX2 mutations.

Perveen R, Lloyd IC, Clayton-Smith J, Churchill A, van Heyningen V, Hanson I, Taylor D, McKeown C, Super M, Kerr B, Winter R, Black GC. Perveen R, et al. Among authors: black gc. Invest Ophthalmol Vis Sci. 2000 Aug;41(9):2456-60. Invest Ophthalmol Vis Sci. 2000. PMID: 10937553

5

Angelman syndrome phenotype associated with mutations in MECP2, a gene encoding a methyl CpG binding protein.

Watson P, Black G, Ramsden S, Barrow M, Super M, Kerr B, Clayton-Smith J. Watson P, et al. J Med Genet. 2001 Apr;38(4):224-8. doi: 10.1136/jmg.38.4.224. J Med Genet. 2001. PMID: 11283202 Free PMC article.

6

The ophthalmic findings in Cohen syndrome.

Chandler KE, Biswas S, Lloyd IC, Parry N, Clayton-Smith J, Black GC. Chandler KE, et al. Among authors: black gc. Br J Ophthalmol. 2002 Dec;86(12):1395-8. doi: 10.1136/bjo.86.12.1395. Br J Ophthalmol. 2002. PMID: 12446373 Free PMC article.

7

Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transport.

Kolehmainen J, Black GC, Saarinen A, Chandler K, Clayton-Smith J, Träskelin AL, Perveen R, Kivitie-Kallio S, Norio R, Warburg M, Fryns JP, de la Chapelle A, Lehesjoki AE. Kolehmainen J, et al. Among authors: black gc. Am J Hum Genet. 2003 Jun;72(6):1359-69. doi: 10.1086/375454. Epub 2003 May 2. Am J Hum Genet. 2003. PMID: 12730828 Free PMC article.

8

Delineation of Cohen syndrome following a large-scale genotype-phenotype screen.

Kolehmainen J, Wilkinson R, Lehesjoki AE, Chandler K, Kivitie-Kallio S, Clayton-Smith J, Träskelin AL, Waris L, Saarinen A, Khan J, Gross-Tsur V, Traboulsi EI, Warburg M, Fryns JP, Norio R, Black GC, Manson FD. Kolehmainen J, et al. Among authors: black gc. Am J Hum Genet. 2004 Jul;75(1):122-7. doi: 10.1086/422197. Epub 2004 May 12. Am J Hum Genet. 2004. PMID: 15141358 Free PMC article.

9

Molecular genetics of retinitis pigmentosa in two Romani (Gypsy) families.

Chakarova CF, Cherninkova S, Tournev I, Waseem N, Kaneva R, Jordanova A, Veraitch BK, Gill B, Colclough T, Nakova A, Oscar A, Mihaylova V, Nikolova-Hill A, Wright AF, Black GC, Ramsden S, Kremensky I, Bhattacharya SS. Chakarova CF, et al. Among authors: black gc. Mol Vis. 2006 Aug 11;12:909-14. Mol Vis. 2006. PMID: 16917484 Free article.

10

RPGR mutation analysis and disease: an update.

Shu X, Black GC, Rice JM, Hart-Holden N, Jones A, O'Grady A, Ramsden S, Wright AF. Shu X, et al. Among authors: black gc. Hum Mutat. 2007 Apr;28(4):322-8. doi: 10.1002/humu.20461. Hum Mutat. 2007. PMID: 17195164

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