Crow Y - Search Results

1

Clinical phenotype associated with homozygosity for a HOXD13 7-residue polyalanine tract expansion.

Horsnell K, Ali M, Malik S, Wilson L, Hall C, Debeer P, Crow Y. Horsnell K, et al. Among authors: crow y. Eur J Med Genet. 2006 Sep-Oct;49(5):396-401. doi: 10.1016/j.ejmg.2006.01.004. Epub 2006 Feb 9. Eur J Med Genet. 2006. PMID: 16497573

2

Autosomal dominant juvenile recurrent parotitis.

Reid E, Douglas F, Crow Y, Hollman A, Gibson J. Reid E, et al. Among authors: crow y. J Med Genet. 1998 May;35(5):417-9. doi: 10.1136/jmg.35.5.417. J Med Genet. 1998. PMID: 9610807 Free PMC article.

3

A fifth locus for primary autosomal recessive microcephaly maps to chromosome 1q31.

Pattison L, Crow YJ, Deeble VJ, Jackson AP, Jafri H, Rashid Y, Roberts E, Woods CG. Pattison L, et al. Among authors: crow yj. Am J Hum Genet. 2000 Dec;67(6):1578-80. doi: 10.1086/316910. Epub 2000 Nov 7. Am J Hum Genet. 2000. PMID: 11078481 Free PMC article.

4

Kufor-Rakeb syndrome, pallido-pyramidal degeneration with supranuclear upgaze paresis and dementia, maps to 1p36.

Hampshire DJ, Roberts E, Crow Y, Bond J, Mubaidin A, Wriekat AL, Al-Din A, Woods CG. Hampshire DJ, et al. Among authors: crow y. J Med Genet. 2001 Oct;38(10):680-2. doi: 10.1136/jmg.38.10.680. J Med Genet. 2001. PMID: 11584046 Free PMC article.

5

Autosomal recessive primary microcephaly: an analysis of locus heterogeneity and phenotypic variation.

Roberts E, Hampshire DJ, Pattison L, Springell K, Jafri H, Corry P, Mannon J, Rashid Y, Crow Y, Bond J, Woods CG. Roberts E, et al. Among authors: crow y. J Med Genet. 2002 Oct;39(10):718-21. doi: 10.1136/jmg.39.10.718. J Med Genet. 2002. PMID: 12362027 Free PMC article.

6

Cree encephalitis is allelic with Aicardi-Goutiéres syndrome: implications for the pathogenesis of disorders of interferon alpha metabolism.

Crow YJ, Black DN, Ali M, Bond J, Jackson AP, Lefson M, Michaud J, Roberts E, Stephenson JB, Woods CG, Lebon P. Crow YJ, et al. J Med Genet. 2003 Mar;40(3):183-7. doi: 10.1136/jmg.40.3.183. J Med Genet. 2003. PMID: 12624136 Free PMC article.

7

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

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

A newly recognized, likely autosomal recessive syndrome comprising agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis, and other features.

Crow YJ, Goodship JA, Wright C, Coady AM, Conley ME, Gennery AR. Crow YJ, et al. Am J Med Genet A. 2006 Jun 1;140(11):1131-5. doi: 10.1002/ajmg.a.31275. Am J Med Genet A. 2006. PMID: 16691627

10

Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus.

Crow YJ, Hayward BE, Parmar R, Robins P, Leitch A, Ali M, Black DN, van Bokhoven H, Brunner HG, Hamel BC, Corry PC, Cowan FM, Frints SG, Klepper J, Livingston JH, Lynch SA, Massey RF, Meritet JF, Michaud JL, Ponsot G, Voit T, Lebon P, Bonthron DT, Jackson AP, Barnes DE, Lindahl T. Crow YJ, et al. Nat Genet. 2006 Aug;38(8):917-20. doi: 10.1038/ng1845. Epub 2006 Jul 16. Nat Genet. 2006. PMID: 16845398

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