Rice GI - Search Results

1

DNASE1L3 deficiency, new phenotypes, and evidence for a transient type I IFN signaling.

Tusseau M, Lovšin E, Samaille C, Pescarmona R, Mathieu AL, Maggio MC, Selmanović V, Debeljak M, Dachy A, Novljan G, Janin A, Januel L, Gibier JB, Chopin E, Rouvet I, Goncalves D, Fabien N, Rice GI, Lesca G, Labalme A, Romagnani P, Walzer T, Viel S, Perret M, Crow YJ, Avčin T, Cimaz R, Belot A. Tusseau M, et al. Among authors: rice gi. J Clin Immunol. 2022 Aug;42(6):1310-1320. doi: 10.1007/s10875-022-01287-5. Epub 2022 Jun 7. J Clin Immunol. 2022. PMID: 35670985

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. 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

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: rice gi. 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

4

A further example of a distinctive autosomal recessive syndrome comprising neonatal diabetes mellitus, intestinal atresias and gall bladder agenesis.

Chappell L, Gorman S, Campbell F, Ellard S, Rice G, Dobbie A, Crow Y. Chappell L, et al. Am J Med Genet A. 2008 Jul 1;146A(13):1713-7. doi: 10.1002/ajmg.a.32304. Am J Med Genet A. 2008. PMID: 18512226 Review.

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. 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: rice gi. 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

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: rice gi. 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

8

Chilblains as a diagnostic sign of aicardi-goutières syndrome.

Abdel-Salam GM, El-Kamah GY, Rice GI, El-Darouti M, Gornall H, Szynkiewicz M, Aymard F, Zaki MS, Abdel-Aleem AK, Lebon P, Crow YJ. Abdel-Salam GM, et al. Among authors: rice gi. Neuropediatrics. 2010 Feb;41(1):18-23. doi: 10.1055/s-0030-1255059. Epub 2010 Jun 22. Neuropediatrics. 2010. PMID: 20571986

9

A de novo p.Asp18Asn mutation in TREX1 in a patient with Aicardi-Goutières syndrome.

Haaxma CA, Crow YJ, van Steensel MA, Lammens MM, Rice GI, Verbeek MM, Willemsen MA. Haaxma CA, et al. Among authors: rice gi. Am J Med Genet A. 2010 Oct;152A(10):2612-7. doi: 10.1002/ajmg.a.33620. Am J Med Genet A. 2010. PMID: 20799324

10

Autosomal dominant inheritance of a heterozygous mutation in SAMHD1 causing familial chilblain lupus.

Ravenscroft JC, Suri M, Rice GI, Szynkiewicz M, Crow YJ. Ravenscroft JC, et al. Among authors: rice gi. Am J Med Genet A. 2011 Jan;155A(1):235-7. doi: 10.1002/ajmg.a.33778. Am J Med Genet A. 2011. PMID: 21204240 No abstract available.

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