Black GC - Search Results

1

Diagnostic criteria, clinical characteristics, and natural history of Cohen syndrome.

Chandler KE, Kidd A, Al-Gazali L, Kolehmainen J, Lehesjoki AE, Black GC, Clayton-Smith J. Chandler KE, et al. Among authors: black gc. J Med Genet. 2003 Apr;40(4):233-41. doi: 10.1136/jmg.40.4.233. J Med Genet. 2003. PMID: 12676892 Free PMC article.

2

Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome.

Clayton-Smith J, O'Sullivan J, Daly S, Bhaskar S, Day R, Anderson B, Voss AK, Thomas T, Biesecker LG, Smith P, Fryer A, Chandler KE, Kerr B, Tassabehji M, Lynch SA, Krajewska-Walasek M, McKee S, Smith J, Sweeney E, Mansour S, Mohammed S, Donnai D, Black G. Clayton-Smith J, et al. Am J Hum Genet. 2011 Nov 11;89(5):675-81. doi: 10.1016/j.ajhg.2011.10.008. Am J Hum Genet. 2011. PMID: 22077973 Free PMC article.

3

Autosomal dominant brachydactyly, coloboma and anterior segment dysgenesis.

Quinn SM, Black GC, Biswas S, Clayton-Smith J, Lloyd IC. Quinn SM, et al. Among authors: black gc. Ophthalmic Genet. 2004 Dec;25(4):277-83. doi: 10.1080/13816810490902684. Ophthalmic Genet. 2004. PMID: 15621880

4

Congenital cataracts in females caused by BCOR mutations; report of six further families demonstrating clinical variability and diverse genetic mechanisms.

Redwood A, Douzgou S, Waller S, Ramsden S, Roberts A, Bonin H, Lloyd IC, Ashworth J, Black GCM, Clayton-Smith J. Redwood A, et al. Eur J Med Genet. 2020 Feb;63(2):103658. doi: 10.1016/j.ejmg.2019.04.015. Epub 2019 Apr 30. Eur J Med Genet. 2020. PMID: 31048080

5

De-novo duplication of 5(q13.3q21.1) in a child with vitreo-retinal dysplasia and learning disability.

Banka S, Lloyd IC, Black G, Trueman S, Gibbs J, Clayton-Smith J. Banka S, et al. Clin Dysmorphol. 2010 Apr;19(2):73-75. doi: 10.1097/MCD.0b013e328331a6d7. Clin Dysmorphol. 2010. PMID: 20177379 No abstract available.

6

Diagnosing the cause of bilateral paediatric cataracts: comparison of standard testing with a next-generation sequencing approach.

Musleh M, Hall G, Lloyd IC, Gillespie RL, Waller S, Douzgou S, Clayton-Smith J, Kehdi E, Black GC, Ashworth J. Musleh M, et al. Among authors: black gc. Eye (Lond). 2016 Sep;30(9):1175-81. doi: 10.1038/eye.2016.105. Epub 2016 Jun 17. Eye (Lond). 2016. PMID: 27315345 Free PMC article.

7

Corneal ectasia associated with Cohen syndrome: a role for COH1 in corneal development and maintenance?

Khan A, Chandler K, Pimenides D, Black GC, Manson FD. Khan A, et al. Among authors: black gc. Br J Ophthalmol. 2006 Mar;90(3):390-1. doi: 10.1136/bjo.2005.080085. Br J Ophthalmol. 2006. PMID: 16488969 Free PMC article. No abstract available.

8

FISH mapping of de novo apparently balanced chromosome rearrangements identifies characteristics associated with phenotypic abnormality.

Fantes JA, Boland E, Ramsay J, Donnai D, Splitt M, Goodship JA, Stewart H, Whiteford M, Gautier P, Harewood L, Holloway S, Sharkey F, Maher E, van Heyningen V, Clayton-Smith J, Fitzpatrick DR, Black GC. Fantes JA, et al. Among authors: black gc. Am J Hum Genet. 2008 Apr;82(4):916-26. doi: 10.1016/j.ajhg.2008.02.007. Epub 2008 Mar 27. Am J Hum Genet. 2008. PMID: 18374296 Free PMC article.

9

De novo GLI3 mutation in acrocallosal syndrome: broadening the phenotypic spectrum of GLI3 defects and overlap with murine models.

Elson E, Perveen R, Donnai D, Wall S, Black GC. Elson E, et al. Among authors: black gc. J Med Genet. 2002 Nov;39(11):804-6. doi: 10.1136/jmg.39.11.804. J Med Genet. 2002. PMID: 12414818 Free PMC article.

10

Mutations in CUL7, OBSL1 and CCDC8 in 3-M syndrome lead to disordered growth factor signalling.

Hanson D, Murray PG, Coulson T, Sud A, Omokanye A, Stratta E, Sakhinia F, Bonshek C, Wilson LC, Wakeling E, Temtamy SA, Aglan M, Rosser EM, Mansour S, Carcavilla A, Nampoothiri S, Khan WI, Banerjee I, Chandler KE, Black GC, Clayton PE. Hanson D, et al. Among authors: black gc. J Mol Endocrinol. 2012 Oct 30;49(3):267-75. doi: 10.1530/JME-12-0034. Print 2012 Dec. J Mol Endocrinol. 2012. PMID: 23018678

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