Atherton DJ - Search Results

1

Complete maternal isodisomy of chromosome 3 in a child with recessive dystrophic epidermolysis bullosa but no other phenotypic abnormalities.

Fassihi H, Lu L, Wessagowit V, Ozoemena LC, Jones CA, Dopping-Hepenstal PJ, Foster L, Atherton DJ, Mellerio JE, McGrath JA. Fassihi H, et al. Among authors: atherton dj. J Invest Dermatol. 2006 Sep;126(9):2039-43. doi: 10.1038/sj.jid.5700348. Epub 2006 May 18. J Invest Dermatol. 2006. PMID: 16710310 Free article.

2

Prognostic implications of determining 180 kDa bullous pemphigoid antigen (BPAG2) gene/protein pathology in neonatal junctional epidermolysis bullosa.

Mellerio JE, Denyer JE, Atherton DJ, Eady RA, McGrath JA. Mellerio JE, et al. Among authors: atherton dj. Br J Dermatol. 1998 Apr;138(4):661-6. doi: 10.1046/j.1365-2133.1998.02182.x. Br J Dermatol. 1998. PMID: 9640376

3

E210K mutation in the gene encoding the beta3 chain of laminin-5 (LAMB3) is predictive of a phenotype of generalized atrophic benign epidermolysis bullosa.

Mellerio JE, Eady RA, Atherton DJ, Lake BD, McGrath JA. Mellerio JE, et al. Among authors: atherton dj. Br J Dermatol. 1998 Aug;139(2):325-31. doi: 10.1046/j.1365-2133.1998.02377.x. Br J Dermatol. 1998. PMID: 9767254

4

Allelic heterogeneity of dominant and recessive COL7A1 mutations underlying epidermolysis bullosa pruriginosa.

Mellerio JE, Ashton GH, Mohammedi R, Lyon CC, Kirby B, Harman KE, Salas-Alanis JC, Atherton DJ, Harrison PV, Griffiths WA, Black MM, Eady RA, McGrath JA. Mellerio JE, et al. Among authors: atherton dj. J Invest Dermatol. 1999 Jun;112(6):984-7. doi: 10.1046/j.1523-1747.1999.00614.x. J Invest Dermatol. 1999. PMID: 10383749 Free article.

5

Thalidomide in the management of epidermolysis bullosa pruriginosa.

Ozanic Bulic S, Fassihi H, Mellerio JE, McGrath JA, Atherton DJ. Ozanic Bulic S, et al. Among authors: atherton dj. Br J Dermatol. 2005 Jun;152(6):1332-4. doi: 10.1111/j.1365-2133.2005.06492.x. Br J Dermatol. 2005. PMID: 15949003

6

First trimester DNA-based exclusion of recessive dystrophic epidermolysis bullosa from chorionic villus sampling.

McGrath JA, Dunnill MG, Christiano AM, Lake BD, Atherton DJ, Rodeck CH, Pope FM, Eady RA, Uitto J. McGrath JA, et al. Among authors: atherton dj. Br J Dermatol. 1996 Apr;134(4):734-9. doi: 10.1111/j.1365-2133.1996.tb06981.x. Br J Dermatol. 1996. PMID: 8733382

7

Recurrent mutations in kindlin-1, a novel keratinocyte focal contact protein, in the autosomal recessive skin fragility and photosensitivity disorder, Kindler syndrome.

Ashton GH, McLean WH, South AP, Oyama N, Smith FJ, Al-Suwaid R, Al-Ismaily A, Atherton DJ, Harwood CA, Leigh IM, Moss C, Didona B, Zambruno G, Patrizi A, Eady RA, McGrath JA. Ashton GH, et al. Among authors: atherton dj. J Invest Dermatol. 2004 Jan;122(1):78-83. doi: 10.1046/j.0022-202X.2003.22136.x. J Invest Dermatol. 2004. PMID: 14962093 Free article.

8

Congenital anetoderma in a preterm infant.

Wain EM, Mellerio JE, Robson A, Atherton DJ. Wain EM, et al. Among authors: atherton dj. Pediatr Dermatol. 2008 Nov-Dec;25(6):626-9. doi: 10.1111/j.1525-1470.2008.00785.x. Pediatr Dermatol. 2008. PMID: 19067869

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: atherton dj. 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

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: atherton dj. Hum Mol Genet. 2001 Feb 1;10(3):221-9. doi: 10.1093/hmg/10.3.221. Hum Mol Genet. 2001. PMID: 11159940

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