McGrath JA - Search Results

1

Limbal stem cell deficiency and ocular phenotype in ectrodactyly-ectodermal dysplasia-clefting syndrome caused by p63 mutations.

Di Iorio E, Kaye SB, Ponzin D, Barbaro V, Ferrari S, Böhm E, Nardiello P, Castaldo G, McGrath JA, Willoughby CE. Di Iorio E, et al. Among authors: mcgrath ja. Ophthalmology. 2012 Jan;119(1):74-83. doi: 10.1016/j.ophtha.2011.06.044. Epub 2011 Sep 28. Ophthalmology. 2012. PMID: 21959367

2

Common mutations in Arg304 of the p63 gene in ectrodactyly, ectodermal dysplasia, clefting syndrome: lack of genotype-phenotype correlation and implications for mutation detection strategies.

Hamada T, Chan I, Willoughby CE, Goudie DR, McGrath JA. Hamada T, et al. Among authors: mcgrath ja. J Invest Dermatol. 2002 Nov;119(5):1202-3. doi: 10.1046/j.1523-1747.2002.19526.x. J Invest Dermatol. 2002. PMID: 12445213 Free article. No abstract available.

3

Mutations in GRHL2 result in an autosomal-recessive ectodermal Dysplasia syndrome.

Petrof G, Nanda A, Howden J, Takeichi T, McMillan JR, Aristodemou S, Ozoemena L, Liu L, South AP, Pourreyron C, Dafou D, Proudfoot LE, Al-Ajmi H, Akiyama M, McLean WH, Simpson MA, Parsons M, McGrath JA. Petrof G, et al. Among authors: mcgrath ja. Am J Hum Genet. 2014 Sep 4;95(3):308-14. doi: 10.1016/j.ajhg.2014.08.001. Epub 2014 Aug 21. Am J Hum Genet. 2014. PMID: 25152456 Free PMC article.

4

Rapp-Hodgkin ectodermal dysplasia syndrome: the clinical and molecular overlap with Hay-Wells syndrome.

Kannu P, Savarirayan R, Ozoemena L, White SM, McGrath JA. Kannu P, et al. Among authors: mcgrath ja. Am J Med Genet A. 2006 Apr 15;140(8):887-91. doi: 10.1002/ajmg.a.31187. Am J Med Genet A. 2006. PMID: 16532463

5

Ectodermal dysplasia-skin fragility syndrome due to a new homozygous internal deletion mutation in the PKP1 gene.

Boyce AE, McGrath JA, Techanukul T, Murrell DF, Chow CW, McGregor L, Warren LJ. Boyce AE, et al. Among authors: mcgrath ja. Australas J Dermatol. 2012 Feb;53(1):61-5. doi: 10.1111/j.1440-0960.2011.00846.x. Epub 2011 Dec 29. Australas J Dermatol. 2012. PMID: 22309335

6

Late diagnosis of ectodermal dysplasia syndrome.

Granger RH, Marshman G, Liu L, McGrath JA. Granger RH, et al. Among authors: mcgrath ja. Australas J Dermatol. 2013 Feb;54(1):46-8. doi: 10.1111/j.1440-0960.2012.00895.x. Epub 2012 Jun 4. Australas J Dermatol. 2013. PMID: 22670871

7

Genotype-phenotype correlation in italian patients with dystrophic epidermolysis bullosa.

Gardella R, Castiglia D, Posteraro P, Bernardini S, Zoppi N, Paradisi M, Tadini G, Barlati S, McGrath JA, Zambruno G, Colombi M. Gardella R, et al. Among authors: mcgrath ja. J Invest Dermatol. 2002 Dec;119(6):1456-62. doi: 10.1046/j.1523-1747.2002.19606.x. J Invest Dermatol. 2002. PMID: 12485454 Free article.

8

Ectodermal dysplasia-skin fragility syndrome.

McGrath JA, Mellerio JE. McGrath JA, et al. Dermatol Clin. 2010 Jan;28(1):125-9. doi: 10.1016/j.det.2009.10.014. Dermatol Clin. 2010. PMID: 19945625 Review.

9

Coinheritance of 2 New Potentially Damaging Heterozygous COL7A1 Variants in a Family With Autosomal Dominant Epidermolysis Bullosa Pruriginosa.

Hale GI, Cohen MC, Quarrell OW, McGrath JA, Messenger AG. Hale GI, et al. Among authors: mcgrath ja. Pediatr Dev Pathol. 2018 Nov-Dec;21(6):580-584. doi: 10.1177/1093526618761497. Epub 2018 Mar 4. Pediatr Dev Pathol. 2018. PMID: 29504492

10

Ectodermal dysplasia-skin fragility syndrome resulting from a new homozygous mutation, 888delC, in the desmosomal protein plakophilin 1.

Ersoy-Evans S, Erkin G, Fassihi H, Chan I, Paller AS, Sürücü S, McGrath JA. Ersoy-Evans S, et al. Among authors: mcgrath ja. J Am Acad Dermatol. 2006 Jul;55(1):157-61. doi: 10.1016/j.jaad.2005.10.002. J Am Acad Dermatol. 2006. PMID: 16781314

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