Crow YJ - Search Results

1

Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome.

Rice G, Newman WG, Dean J, Patrick T, Parmar R, Flintoff K, Robins P, Harvey S, Hollis T, O'Hara A, Herrick AL, Bowden AP, Perrino FW, Lindahl T, Barnes DE, Crow YJ. Rice G, et al. Among authors: crow yj. Am J Hum Genet. 2007 Apr;80(4):811-5. doi: 10.1086/513443. Epub 2007 Feb 19. Am J Hum Genet. 2007. PMID: 17357087 Free PMC article.

2

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.

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

Identification of microcephalin, a protein implicated in determining the size of the human brain.

Jackson AP, Eastwood H, Bell SM, Adu J, Toomes C, Carr IM, Roberts E, Hampshire DJ, Crow YJ, Mighell AJ, Karbani G, Jafri H, Rashid Y, Mueller RF, Markham AF, Woods CG. Jackson AP, et al. Among authors: crow yj. Am J Hum Genet. 2002 Jul;71(1):136-42. doi: 10.1086/341283. Epub 2002 Jun 3. Am J Hum Genet. 2002. PMID: 12046007 Free PMC article.

5

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.

6

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

7

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.

8

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. 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

9

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

10

Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection.

Crow YJ, Leitch A, Hayward BE, Garner A, Parmar R, Griffith E, Ali M, Semple C, Aicardi J, Babul-Hirji R, Baumann C, Baxter P, Bertini E, Chandler KE, Chitayat D, Cau D, Déry C, Fazzi E, Goizet C, King MD, Klepper J, Lacombe D, Lanzi G, Lyall H, Martínez-Frías ML, Mathieu M, McKeown C, Monier A, Oade Y, Quarrell OW, Rittey CD, Rogers RC, Sanchis A, Stephenson JB, Tacke U, Till M, Tolmie JL, Tomlin P, Voit T, Weschke B, Woods CG, Lebon P, Bonthron DT, Ponting CP, Jackson AP. Crow YJ, et al. Nat Genet. 2006 Aug;38(8):910-6. doi: 10.1038/ng1842. Epub 2006 Jul 16. Nat Genet. 2006. PMID: 16845400

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