Black G - Search Results

1

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. Among authors: black g. 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.

2

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.

3

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.

4

Autozygosity mapping with exome sequence data.

Carr IM, Bhaskar S, O'Sullivan J, Aldahmesh MA, Shamseldin HE, Markham AF, Bonthron DT, Black G, Alkuraya FS. Carr IM, et al. Among authors: black g. Hum Mutat. 2013 Jan;34(1):50-6. doi: 10.1002/humu.22220. Epub 2012 Oct 22. Hum Mutat. 2013. PMID: 23090942

5

Deletion of MAOA and MAOB in a male patient causes severe developmental delay, intermittent hypotonia and stereotypical hand movements.

Whibley A, Urquhart J, Dore J, Willatt L, Parkin G, Gaunt L, Black G, Donnai D, Raymond FL. Whibley A, et al. Among authors: black g. Eur J Hum Genet. 2010 Oct;18(10):1095-9. doi: 10.1038/ejhg.2010.41. Epub 2010 May 19. Eur J Hum Genet. 2010. PMID: 20485326 Free PMC article.

6

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

7

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. Among authors: black gcm. 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

8

BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects.

Hilton E, Johnston J, Whalen S, Okamoto N, Hatsukawa Y, Nishio J, Kohara H, Hirano Y, Mizuno S, Torii C, Kosaki K, Manouvrier S, Boute O, Perveen R, Law C, Moore A, Fitzpatrick D, Lemke J, Fellmann F, Debray FG, Dastot-Le-Moal F, Gerard M, Martin J, Bitoun P, Goossens M, Verloes A, Schinzel A, Bartholdi D, Bardakjian T, Hay B, Jenny K, Johnston K, Lyons M, Belmont JW, Biesecker LG, Giurgea I, Black G. Hilton E, et al. Among authors: black g. Eur J Hum Genet. 2009 Oct;17(10):1325-35. doi: 10.1038/ejhg.2009.52. Epub 2009 Apr 15. Eur J Hum Genet. 2009. PMID: 19367324 Free PMC article.

9

Chromosomal translocation in a family with ocular anomalies: indications for karyotype analysis.

Jamieson RV, Gaunt L, Donnai D, Black GC, Kerr B, Stecko O, Black GC. Jamieson RV, et al. Among authors: black gc. Br J Ophthalmol. 2003 May;87(5):646-8. doi: 10.1136/bjo.87.5.646-a. Br J Ophthalmol. 2003. PMID: 12714415 Free PMC article. No abstract available.

10

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. Among authors: black g. Clin Dysmorphol. 2010 Apr;19(2):73-75. doi: 10.1097/MCD.0b013e328331a6d7. Clin Dysmorphol. 2010. PMID: 20177379 No abstract available.

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