Clayton-Smith J - Search Results

1

Interrupted/bipartite clavicle as a diagnostic clue in Kabuki syndrome.

Haanpää M, Schlecht H, Batra G, Clayton-Smith J, Douzgou S. Haanpää M, et al. Am J Med Genet A. 2017 Apr;173(4):1115-1118. doi: 10.1002/ajmg.a.38131. Epub 2017 Mar 3. Am J Med Genet A. 2017. PMID: 28256057

2

A new recessive syndrome of unusual facies, digital abnormalities, and ichthyosis.

Clayton-Smith J, Donnai D. Clayton-Smith J, et al. J Med Genet. 1989 May;26(5):339-42. doi: 10.1136/jmg.26.5.339. J Med Genet. 1989. PMID: 2732996 Free PMC article.

3

Large scale deletions in the GPC3 gene may account for a minority of cases of Simpson-Golabi-Behmel syndrome.

Lindsay S, Ireland M, O'Brien O, Clayton-Smith J, Hurst JA, Mann J, Cole T, Sampson J, Slaney S, Schlessinger D, Burn J, Pilia G. Lindsay S, et al. J Med Genet. 1997 Jun;34(6):480-3. doi: 10.1136/jmg.34.6.480. J Med Genet. 1997. PMID: 9192268 Free PMC article.

4

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.

5

Angelman syndrome: a review of the clinical and genetic aspects.

Clayton-Smith J, Laan L. Clayton-Smith J, et al. J Med Genet. 2003 Feb;40(2):87-95. doi: 10.1136/jmg.40.2.87. J Med Genet. 2003. PMID: 12566516 Free PMC article. Review.

6

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. 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.

7

Geroderma osteodysplastica maps to a 4 Mb locus on chromosome 1q24.

Newman WG, Clayton-Smith J, Metcalfe K, Cole R, Tartaglia M, Brancati F, Morara S, Novelli A, Liu X, Siminovitch KA, Mundlos S, Tassabehji M, Black GC. Newman WG, et al. Am J Med Genet A. 2008 Dec 1;146A(23):3034-7. doi: 10.1002/ajmg.a.32564. Am J Med Genet A. 2008. PMID: 19006212

8

Identification of genomic loci contributing to agenesis of the corpus callosum.

O'Driscoll MC, Black GC, Clayton-Smith J, Sherr EH, Dobyns WB. O'Driscoll MC, et al. Am J Med Genet A. 2010 Sep;152A(9):2145-59. doi: 10.1002/ajmg.a.33558. Am J Med Genet A. 2010. PMID: 20683985

9

Fetal pads as a clue to the diagnosis of Pitt-Hopkins syndrome.

Lehalle D, Williams C, Siu VM, Clayton-Smith J. Lehalle D, et al. Am J Med Genet A. 2011 Jul;155A(7):1685-9. doi: 10.1002/ajmg.a.34055. Epub 2011 Jun 10. Am J Med Genet A. 2011. PMID: 21671383

10

Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome.

Hannibal MC, Buckingham KJ, Ng SB, Ming JE, Beck AE, McMillin MJ, Gildersleeve HI, Bigham AW, Tabor HK, Mefford HC, Cook J, Yoshiura K, Matsumoto T, Matsumoto N, Miyake N, Tonoki H, Naritomi K, Kaname T, Nagai T, Ohashi H, Kurosawa K, Hou JW, Ohta T, Liang D, Sudo A, Morris CA, Banka S, Black GC, Clayton-Smith J, Nickerson DA, Zackai EH, Shaikh TH, Donnai D, Niikawa N, Shendure J, Bamshad MJ. Hannibal MC, et al. Am J Med Genet A. 2011 Jul;155A(7):1511-6. doi: 10.1002/ajmg.a.34074. Epub 2011 Jun 10. Am J Med Genet A. 2011. PMID: 21671394 Free PMC article.

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