McGrath JA - Search Results

1

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

2

Glycine substitutions in the triple-helical region of type VII collagen result in a spectrum of dystrophic epidermolysis bullosa phenotypes and patterns of inheritance.

Christiano AM, McGrath JA, Tan KC, Uitto J. Christiano AM, et al. Among authors: mcgrath ja. Am J Hum Genet. 1996 Apr;58(4):671-81. Am J Hum Genet. 1996. PMID: 8644729 Free PMC article.

3

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. Br J Dermatol. 1996 Apr;134(4):734-9. doi: 10.1111/j.1365-2133.1996.tb06981.x. Br J Dermatol. 1996. PMID: 8733382

4

The molecular pathology of progressive symmetric erythrokeratoderma: a frameshift mutation in the loricrin gene and perturbations in the cornified cell envelope.

Ishida-Yamamoto A, McGrath JA, Lam H, Iizuka H, Friedman RA, Christiano AM. Ishida-Yamamoto A, et al. Among authors: mcgrath ja. Am J Hum Genet. 1997 Sep;61(3):581-9. doi: 10.1086/515518. Am J Hum Genet. 1997. PMID: 9326323 Free PMC article.

5

Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome.

McGrath JA, McMillan JR, Shemanko CS, Runswick SK, Leigh IM, Lane EB, Garrod DR, Eady RA. McGrath JA, et al. Nat Genet. 1997 Oct;17(2):240-4. doi: 10.1038/ng1097-240. Nat Genet. 1997. PMID: 9326952

6

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: mcgrath ja. Br J Dermatol. 1998 Apr;138(4):661-6. doi: 10.1046/j.1365-2133.1998.02182.x. Br J Dermatol. 1998. PMID: 9640376

7

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: mcgrath ja. Am J Hum Genet. 1998 Oct;63(4):984-91. doi: 10.1086/302069. Am J Hum Genet. 1998. PMID: 9758627 Free PMC article.

8

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: mcgrath ja. Br J Dermatol. 1998 Aug;139(2):325-31. doi: 10.1046/j.1365-2133.1998.02377.x. Br J Dermatol. 1998. PMID: 9767254

9

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: mcgrath ja. 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.

10

Heterozygous germline missense mutation in the p63 gene underlying EEC syndrome.

Wessagowit V, Mellerio JE, Pembroke AC, McGrath JA. Wessagowit V, et al. Among authors: mcgrath ja. Clin Exp Dermatol. 2000 Jul;25(5):441-3. doi: 10.1046/j.1365-2230.2000.00683.x. Clin Exp Dermatol. 2000. PMID: 11012604

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