McGrath JA - Search Results

1

Accumulation of Krebs cycle intermediates and over-expression of HIF1alpha in tumours which result from germline FH and SDH mutations.

Pollard PJ, Brière JJ, Alam NA, Barwell J, Barclay E, Wortham NC, Hunt T, Mitchell M, Olpin S, Moat SJ, Hargreaves IP, Heales SJ, Chung YL, Griffiths JR, Dalgleish A, McGrath JA, Gleeson MJ, Hodgson SV, Poulsom R, Rustin P, Tomlinson IP. Pollard PJ, et al. Among authors: mcgrath ja. Hum Mol Genet. 2005 Aug 1;14(15):2231-9. doi: 10.1093/hmg/ddi227. Epub 2005 Jun 29. Hum Mol Genet. 2005. PMID: 15987702

2

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

3

Biologic lessons from mutations in the Kreb's cycle enzyme, fumarate hydratase.

McGrath JA. McGrath JA. J Invest Dermatol. 2003 Oct;121(4):vii. doi: 10.1046/j.1523-1747.2003.12503.x. J Invest Dermatol. 2003. PMID: 14632173 Free article. Review. No abstract available.

4

Familial multiple cutaneous and uterine leiomyomas associated with papillary renal cell cancer.

Chan I, Wong T, Martinez-Mir A, Christiano AM, McGrath JA. Chan I, et al. Among authors: mcgrath ja. Clin Exp Dermatol. 2005 Jan;30(1):75-8. doi: 10.1111/j.1365-2230.2004.01675.x. Clin Exp Dermatol. 2005. PMID: 15663510

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

Recent advances in the molecular basis of inherited skin diseases.

McGrath JA, Eady RA. McGrath JA, et al. Adv Genet. 2001;43:1-32. doi: 10.1016/s0065-2660(01)43002-1. Adv Genet. 2001. PMID: 11037297 Review.

7

Spectrum of dominant mutations in the desmosomal cadherin desmoglein 1, causing the skin disease striate palmoplantar keratoderma.

Hunt DM, Rickman L, Whittock NV, Eady RA, Simrak D, Dopping-Hepenstal PJ, Stevens HP, Armstrong DK, Hennies HC, Küster W, Hughes AE, Arnemann J, Leigh IM, McGrath JA, Kelsell DP, Buxton RS. Hunt DM, et al. Among authors: mcgrath ja. Eur J Hum Genet. 2001 Mar;9(3):197-203. doi: 10.1038/sj.ejhg.5200605. Eur J Hum Genet. 2001. PMID: 11313759

8

A germline mutation in the platelet-derived growth factor receptor beta gene may be implicated in hereditary progressive mucinous histiocytosis.

Onoufriadis A, Boulouadnine B, Dachy G, Higashino T, Huang HY, Hsu CK, Simpson MA, Bork K, Demoulin JB, McGrath JA. Onoufriadis A, et al. Among authors: mcgrath ja. Br J Dermatol. 2021 May;184(5):967-970. doi: 10.1111/bjd.19717. Epub 2021 Feb 5. Br J Dermatol. 2021. PMID: 33301597 No abstract available.

9

A molecular defect in loricrin, the major component of the cornified cell envelope, underlies Vohwinkel's syndrome.

Maestrini E, Monaco AP, McGrath JA, Ishida-Yamamoto A, Camisa C, Hovnanian A, Weeks DE, Lathrop M, Uitto J, Christiano AM. Maestrini E, et al. Among authors: mcgrath ja. Nat Genet. 1996 May;13(1):70-7. doi: 10.1038/ng0596-70. Nat Genet. 1996. PMID: 8673107

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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