Crow YJ - Search Results

1

Coats' plus: a progressive familial syndrome of bilateral Coats' disease, characteristic cerebral calcification, leukoencephalopathy, slow pre- and post-natal linear growth and defects of bone marrow and integument.

Crow YJ, McMenamin J, Haenggeli CA, Hadley DM, Tirupathi S, Treacy EP, Zuberi SM, Browne BH, Tolmie JL, Stephenson JB. Crow YJ, et al. Neuropediatrics. 2004 Feb;35(1):10-9. doi: 10.1055/s-2003-43552. Neuropediatrics. 2004. PMID: 15002047

2

Batten disease in the west of Scotland 1974-1995 including five cases of the juvenile form with granular osmiophilic deposits.

Crow YJ, Tolmie JL, Howatson AG, Patrick WJ, Stephenson JB. Crow YJ, et al. Neuropediatrics. 1997 Jun;28(3):140-4. doi: 10.1055/s-2007-973690. Neuropediatrics. 1997. PMID: 9266550 Review.

3

Spondylocostal dysostosis associated with a 46, XX,+15,dic(6;15)(q25;q11.2) translocation.

Crow YJ, Tolmie JL, Rippard K, Nairn L, Wilkinson AG, Turner T. Crow YJ, et al. Clin Dysmorphol. 1997 Oct;6(4):347-50. doi: 10.1097/00019605-199710000-00008. Clin Dysmorphol. 1997. PMID: 9354844

4

Maternal serum alpha-fetoprotein levels in congenital nephrosis.

Crow YJ, Tolmie JL, Crossley JA, Aitken DA. Crow YJ, et al. Prenat Diagn. 1997 Nov;17(11):1089. Prenat Diagn. 1997. PMID: 9399362 No abstract available.

5

"Cataplexy" and muscle ultrasound abnormalities in Coffin-Lowry syndrome.

Crow YJ, Zuberi SM, McWilliam R, Tolmie JL, Hollman A, Pohl K, Stephenson JB. Crow YJ, et al. J Med Genet. 1998 Feb;35(2):94-8. doi: 10.1136/jmg.35.2.94. J Med Genet. 1998. PMID: 9507386 Free PMC article.

6

Recurrence risks in mental retardation.

Crow YJ, Tolmie JL. Crow YJ, et al. J Med Genet. 1998 Mar;35(3):177-82. doi: 10.1136/jmg.35.3.177. J Med Genet. 1998. PMID: 9541099 Free PMC article. Review.

7

A new strategy for cryptic telomeric translocation screening in patients with idiopathic mental retardation.

Ghaffari SR, Boyd E, Tolmie JL, Crow YJ, Trainer AH, Connor JM. Ghaffari SR, et al. Among authors: crow yj. J Med Genet. 1998 Mar;35(3):225-33. doi: 10.1136/jmg.35.3.225. J Med Genet. 1998. PMID: 9541108 Free PMC article.

8

Aicardi-Goutières syndrome displays genetic heterogeneity with one locus (AGS1) on chromosome 3p21.

Crow YJ, Jackson AP, Roberts E, van Beusekom E, Barth P, Corry P, Ferrie CD, Hamel BC, Jayatunga R, Karbani G, Kálmánchey R, Kelemen A, King M, Kumar R, Livingstone J, Massey R, McWilliam R, Meager A, Rittey C, Stephenson JB, Tolmie JL, Verrips A, Voit T, van Bokhoven H, Brunner HG, Woods CG. Crow YJ, et al. Am J Hum Genet. 2000 Jul;67(1):213-21. doi: 10.1086/302955. Epub 2000 May 25. Am J Hum Genet. 2000. PMID: 10827106 Free PMC article.

9

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.

10

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

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