Crow YJ - Search Results

1

Chromosome 1q42 deletion and agenesis of the corpus callosum.

Puthuran MJ, Rowland-Hill CA, Simpson J, Pairaudeau PW, Mabbott JL, Morris SM, Crow YJ. Puthuran MJ, et al. Among authors: crow yj. Am J Med Genet A. 2005 Sep 15;138(1):68-9. doi: 10.1002/ajmg.a.30888. Am J Med Genet A. 2005. PMID: 16097003 No abstract available.

2

Congenital glaucoma and brain stem atrophy as features of Aicardi-Goutières syndrome.

Crow YJ, Massey RF, Innes JR, Pairaudeau PW, Rowland Hill CA, Woods CG, Ali M, Livingston JH, Lebon P, Nischall K, McEntagart M, Hindocha N, Winter RM. Crow YJ, et al. Am J Med Genet A. 2004 Sep 1;129A(3):303-7. doi: 10.1002/ajmg.a.30250. Am J Med Genet A. 2004. PMID: 15326633

3

Sedaghatian spondylometaphyseal dysplasia with pachygyria and absence of the corpus callosum.

English SJ, Gayatri N, Arthur R, Crow YJ. English SJ, et al. Among authors: crow yj. Am J Med Genet A. 2006 Sep 1;140A(17):1854-8. doi: 10.1002/ajmg.a.31376. Am J Med Genet A. 2006. PMID: 16892303

4

Focal dermal hypoplasia with subependymal heterotopia and hypoplastic corpus callosum.

Fisher RB, Pairaudeau PW, Innes JR, Bartlett RJV, Crow YJ. Fisher RB, et al. Among authors: crow yj. Clin Dysmorphol. 2007 Jan;16(1):59-61. doi: 10.1097/01.mcd.0000220617.93520.bb. Clin Dysmorphol. 2007. PMID: 17159518

5

Band-like intracranial calcification with simplified gyration and polymicrogyria: a distinct "pseudo-TORCH" phenotype.

Briggs TA, Wolf NI, D'Arrigo S, Ebinger F, Harting I, Dobyns WB, Livingston JH, Rice GI, Crooks D, Rowland-Hill CA, Squier W, Stoodley N, Pilz DT, Crow YJ. Briggs TA, et al. Among authors: crow yj. Am J Med Genet A. 2008 Dec 15;146A(24):3173-80. doi: 10.1002/ajmg.a.32614. Am J Med Genet A. 2008. PMID: 19012351

6

Severe neonatal-onset panniculitis in a female infant with Prader-Willi syndrome.

Sakthivel M, Hughes SM, Riley P, Arkwright PD, Mukherjee A, Ramsden S, Urquhart J, Crow YJ. Sakthivel M, et al. Among authors: crow yj. Am J Med Genet A. 2011 Dec;155A(12):3087-9. doi: 10.1002/ajmg.a.34318. Epub 2011 Nov 3. Am J Med Genet A. 2011. PMID: 22052851

7

A region of homozygosity within 22q11.2 associated with congenital heart disease: recessive DiGeorge/velocardiofacial syndrome?

Henwood J, Pickard C, Leek JP, Bennett CP, Crow YJ, Thompson JD, Ahmed M, Watterson KG, Parsons JM, Roberts E, Lench NJ. Henwood J, et al. Among authors: crow yj. J Med Genet. 2001 Aug;38(8):533-6. doi: 10.1136/jmg.38.8.533. J Med Genet. 2001. PMID: 11494964 Free PMC article. No abstract available.

8

A second locus for Aicardi-Goutieres syndrome at chromosome 13q14-21.

Ali M, Highet LJ, Lacombe D, Goizet C, King MD, Tacke U, van der Knaap MS, Lagae L, Rittey C, Brunner HG, van Bokhoven H, Hamel B, Oade YA, Sanchis A, Desguerre I, Cau D, Mathieu N, Moutard ML, Lebon P, Kumar D, Jackson AP, Crow YJ. Ali M, et al. Among authors: crow yj. J Med Genet. 2006 May;43(5):444-50. doi: 10.1136/jmg.2005.031880. Epub 2005 May 20. J Med Genet. 2006. PMID: 15908569 Free PMC article.

9

3C syndrome.

Craft E, Wildig CE, Crow YJ. Craft E, et al. Among authors: crow yj. Am J Med Genet A. 2010 Apr;152A(4):1026-7. doi: 10.1002/ajmg.a.32820. Am J Med Genet A. 2010. PMID: 19504608 No abstract available.

10

Newly recognized recessive syndrome characterized by dysmorphic features, hypogonadotropic hypogonadism, severe microcephaly, and sensorineural hearing loss maps to 3p21.3.

Jenkinson EM, Kingston H, Urquhart J, Khan N, Melville A, Swinton M, Crow YJ, Davis JR, Trump D, Newman WG. Jenkinson EM, et al. Among authors: crow yj. Am J Med Genet A. 2011 Dec;155A(12):2910-5. doi: 10.1002/ajmg.a.34292. Epub 2011 Oct 14. Am J Med Genet A. 2011. PMID: 22002932

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