Crow YJ - Search Results

1

Stimulator of Interferon Genes-Associated Vasculopathy With Onset in Infancy: A Mimic of Childhood Granulomatosis With Polyangiitis.

Munoz J, Rodière M, Jeremiah N, Rieux-Laucat F, Oojageer A, Rice GI, Rozenberg F, Crow YJ, Bessis D. Munoz J, et al. Among authors: crow yj. JAMA Dermatol. 2015 Aug;151(8):872-7. doi: 10.1001/jamadermatol.2015.0251. JAMA Dermatol. 2015. PMID: 25992765

2

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.

3

Aicardi-Goutières syndrome presenting atypically as a sub-acute leukoencephalopathy.

Orcesi S, Pessagno A, Biancheri R, La Piana R, Mascaretti M, Rossi A, Rice GI, Crow YJ, Fazzi E, Veneselli E. Orcesi S, et al. Among authors: crow yj. Eur J Paediatr Neurol. 2008 Sep;12(5):408-11. doi: 10.1016/j.ejpn.2007.10.005. Epub 2008 Feb 20. Eur J Paediatr Neurol. 2008. PMID: 18069026

4

Cutaneous histopathological findings of Aicardi-Goutières syndrome, overlap with chilblain lupus.

Kolivras A, Aeby A, Crow YJ, Rice GI, Sass U, André J. Kolivras A, et al. Among authors: crow yj. J Cutan Pathol. 2008 Aug;35(8):774-8. doi: 10.1111/j.1600-0560.2007.00900.x. Epub 2008 Apr 17. J Cutan Pathol. 2008. PMID: 18422690

5

Aicardi-Goutières syndrome: description of a late onset case.

D'Arrigo S, Riva D, Bulgheroni S, Chiapparini L, Lebon P, Rice G, Crow YJ, Pantaleoni C. D'Arrigo S, et al. Among authors: crow yj. Dev Med Child Neurol. 2008 Aug;50(8):631-4. doi: 10.1111/j.1469-8749.2008.03033.x. Dev Med Child Neurol. 2008. PMID: 18754903 Free article.

6

Two further cases of spondyloenchondrodysplasia (SPENCD) with immune dysregulation.

Navarro V, Scott C, Briggs TA, Barete S, Frances C, Lebon P, Maisonobe T, Rice GI, Wouters CH, Crow YJ. Navarro V, et al. Among authors: crow yj. Am J Med Genet A. 2008 Nov 1;146A(21):2810-5. doi: 10.1002/ajmg.a.32518. Am J Med Genet A. 2008. PMID: 18924170

7

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

8

Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response.

Rice GI, Bond J, Asipu A, Brunette RL, Manfield IW, Carr IM, Fuller JC, Jackson RM, Lamb T, Briggs TA, Ali M, Gornall H, Couthard LR, Aeby A, Attard-Montalto SP, Bertini E, Bodemer C, Brockmann K, Brueton LA, Corry PC, Desguerre I, Fazzi E, Cazorla AG, Gener B, Hamel BC, Heiberg A, Hunter M, van der Knaap MS, Kumar R, Lagae L, Landrieu PG, Lourenco CM, Marom D, McDermott MF, van der Merwe W, Orcesi S, Prendiville JS, Rasmussen M, Shalev SA, Soler DM, Shinawi M, Spiegel R, Tan TY, Vanderver A, Wakeling EL, Wassmer E, Whittaker E, Lebon P, Stetson DB, Bonthron DT, Crow YJ. Rice GI, et al. Among authors: crow yj. Nat Genet. 2009 Jul;41(7):829-32. doi: 10.1038/ng.373. Epub 2009 Jun 14. Nat Genet. 2009. PMID: 19525956 Free PMC article.

9

Aicardi-Goutières syndrome presenting with haematemesis in infancy.

Hall D, Rice GI, Akbar N, Meager A, Crow YJ, Lim MJ. Hall D, et al. Among authors: crow yj. Acta Paediatr. 2009 Dec;98(12):2005-8. doi: 10.1111/j.1651-2227.2009.01454.x. Epub 2009 Sep 22. Acta Paediatr. 2009. PMID: 19775308

10

Familial Aicardi-Goutières syndrome due to SAMHD1 mutations is associated with chronic arthropathy and contractures.

Dale RC, Gornall H, Singh-Grewal D, Alcausin M, Rice GI, Crow YJ. Dale RC, et al. Among authors: crow yj. Am J Med Genet A. 2010 Apr;152A(4):938-42. doi: 10.1002/ajmg.a.33359. Am J Med Genet A. 2010. PMID: 20358604

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