Irvine AD - Search Results

1

A missense mutation in the zinc-finger domain of the human hairless gene underlies congenital atrichia in a family of Irish travellers.

Ahmad W, Irvine AD, Lam H, Buckley C, Bingham EA, Panteleyev AA, Ahmad M, McGrath JA, Christiano AM. Ahmad W, et al. Among authors: irvine ad. Am J Hum Genet. 1998 Oct;63(4):984-91. doi: 10.1086/302069. Am J Hum Genet. 1998. PMID: 9758627 Free PMC article.

2

A recurrent splice-site mutation in the human hairless gene underlies congenital atrichia in Irish families.

O'Regan GM, Zurada J, Martinez-Mir A, Christiano AM, Irvine AD. O'Regan GM, et al. Among authors: irvine ad. Br J Dermatol. 2007 Apr;156(4):744-7. doi: 10.1111/j.1365-2133.2006.07742.x. Epub 2007 Jan 30. Br J Dermatol. 2007. PMID: 17263802 No abstract available.

3

Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63.

McGrath JA, Duijf PH, Doetsch V, Irvine AD, de Waal R, Vanmolkot KR, Wessagowit V, Kelly A, Atherton DJ, Griffiths WA, Orlow SJ, van Haeringen A, Ausems MG, Yang A, McKeon F, Bamshad MA, Brunner HG, Hamel BC, van Bokhoven H. McGrath JA, et al. Among authors: irvine ad. Hum Mol Genet. 2001 Feb 1;10(3):221-9. doi: 10.1093/hmg/10.3.221. Hum Mol Genet. 2001. PMID: 11159940

4

A mutation detection strategy for the human keratin 6A gene and novel missense mutations in two cases of pachyonychia congenita type 1.

Smith FJ, McKenna KE, Irvine AD, Bingham EA, Coleman CM, Uitto J, McLean WH. Smith FJ, et al. Among authors: irvine ad. Exp Dermatol. 1999 Apr;8(2):109-14. doi: 10.1111/j.1600-0625.1999.tb00356.x. Exp Dermatol. 1999. PMID: 10232400

5

Hair on a gene string: recent advances in understanding the molecular genetics of hair loss.

Irvine AD, Christiano AM. Irvine AD, et al. Clin Exp Dermatol. 2001 Jan;26(1):59-71. doi: 10.1046/j.1365-2230.2001.00764.x. Clin Exp Dermatol. 2001. PMID: 11260183 Review.

6

Focal dermal hypoplasia (Goltz syndrome) associated with intestinal malrotation and mediastinal dextroposition.

Irvine AD, Stewart FJ, Bingham EA, Nevin NC, Boston VE. Irvine AD, et al. Am J Med Genet. 1996 Mar 29;62(3):213-5. doi: 10.1002/(SICI)1096-8628(19960329)62:3<213::AID-AJMG2>3.0.CO;2-U. Am J Med Genet. 1996. PMID: 8882775

7

An autosomal dominant syndrome of acromegaloid facial appearance and generalised hypertrichosis terminalis.

Irvine AD, Dolan OM, Hadden DR, Stewart FJ, Bingham EA, Nevin NC. Irvine AD, et al. J Med Genet. 1996 Nov;33(11):972-4. doi: 10.1136/jmg.33.11.972. J Med Genet. 1996. PMID: 8950682 Free PMC article.

8

Microscopic polyangiitis. Delineation of a cutaneous-limited variant associated with antimyeloperoxidase autoantibody.

Irvine AD, Bruce IN, Walsh MY, Bingham EA. Irvine AD, et al. Arch Dermatol. 1997 Apr;133(4):474-7. doi: 10.1001/archderm.133.4.474. Arch Dermatol. 1997. PMID: 9126011

9

An unusual N-terminal deletion of the laminin alpha3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndrome.

McLean WH, Irvine AD, Hamill KJ, Whittock NV, Coleman-Campbell CM, Mellerio JE, Ashton GS, Dopping-Hepenstal PJ, Eady RA, Jamil T, Phillips R, Shabbir SG, Haroon TS, Khurshid K, Moore JE, Page B, Darling J, Atherton DJ, Van Steensel MA, Munro CS, Smith FJ, McGrath JA. McLean WH, et al. Among authors: irvine ad. Hum Mol Genet. 2003 Sep 15;12(18):2395-409. doi: 10.1093/hmg/ddg234. Epub 2003 Jul 15. Hum Mol Genet. 2003. PMID: 12915477

10

Autosomal recessive hypotrichosis with loose anagen hairs associated with TKFC mutations.

Onoufriadis A, Cabezas A, Ng JCF, Canales J, Costas MJ, Ribeiro JM, Rodrigues JR, McAleer MA, Castelo-Soccio L, Simpson MA, Fraternali F, Irvine AD, Cameselle JC, McGrath JA. Onoufriadis A, et al. Among authors: irvine ad. Br J Dermatol. 2021 May;184(5):935-943. doi: 10.1111/bjd.19481. Epub 2020 Nov 2. Br J Dermatol. 2021. PMID: 32790068

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