Ozoemena L - Search Results

1

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: ozoemena l. 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.

2

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: ozoemena l. 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

3

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: ozoemena lc. 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.

4

A homozygous nonsense mutation within the dystonin gene coding for the coiled-coil domain of the epithelial isoform of BPAG1 underlies a new subtype of autosomal recessive epidermolysis bullosa simplex.

Groves RW, Liu L, Dopping-Hepenstal PJ, Markus HS, Lovell PA, Ozoemena L, Lai-Cheong JE, Gawler J, Owaribe K, Hashimoto T, Mellerio JE, Mee JB, McGrath JA. Groves RW, et al. Among authors: ozoemena l. J Invest Dermatol. 2010 Jun;130(6):1551-7. doi: 10.1038/jid.2010.19. Epub 2010 Feb 18. J Invest Dermatol. 2010. PMID: 20164846 Free article.

5

A new homozygous nonsense mutation in LAMA3A underlying laryngo-onycho-cutaneous syndrome.

Barzegar M, Mozafari N, Kariminejad A, Asadikani Z, Ozoemena L, McGrath JA. Barzegar M, et al. Among authors: ozoemena l. Br J Dermatol. 2013 Dec;169(6):1353-6. doi: 10.1111/bjd.12522. Br J Dermatol. 2013. PMID: 23869449

6

Impact of next generation sequencing on diagnostics in a genetic skin disease clinic.

Takeichi T, Nanda A, Liu L, Salam A, Campbell P, Fong K, Akiyama M, Ozoemena L, Stone KL, Al-Ajmi H, Simpson MA, McGrath JA. Takeichi T, et al. Among authors: ozoemena l. Exp Dermatol. 2013 Dec;22(12):825-31. doi: 10.1111/exd.12276. Exp Dermatol. 2013. PMID: 24279917

7

Limited ectrodactyly, ectodermal dysplasia and cleft lip-palate syndrome with a p63 mutation, associated with linear and whorled naevoid hypermelanosis.

Pratsou P, Defty CL, Ozoemena L, McGrath JA, Moss C, Gach JE. Pratsou P, et al. Among authors: ozoemena l. Clin Exp Dermatol. 2014 Mar;39(2):266-8. doi: 10.1111/ced.12259. Epub 2014 Jan 24. Clin Exp Dermatol. 2014. PMID: 24460914 No abstract available.

8

Under-recognition of acral peeling skin syndrome: 59 new cases with 15 novel mutations.

Szczecinska W, Nesteruk D, Wertheim-Tysarowska K, Greenblatt DT, Baty D, Browne F, Liu L, Ozoemena L, Terron-Kwiatkowski A, McGrath JA, Mellerio JE, Morton J, Woźniak K, Kowalewski C, Has C, Moss C. Szczecinska W, et al. Among authors: ozoemena l. Br J Dermatol. 2014 Nov;171(5):1206-10. doi: 10.1111/bjd.12964. Epub 2014 Oct 20. Br J Dermatol. 2014. PMID: 24628291

9

Whole-exome sequencing improves mutation detection in a diagnostic epidermolysis bullosa laboratory.

Takeichi T, Liu L, Fong K, Ozoemena L, McMillan JR, Salam A, Campbell P, Akiyama M, Mellerio JE, McLean WH, Simpson MA, McGrath JA. Takeichi T, et al. Among authors: ozoemena l. Br J Dermatol. 2015 Jan;172(1):94-100. doi: 10.1111/bjd.13190. Epub 2014 Nov 19. Br J Dermatol. 2015. PMID: 24947307

10

Mutations in EXPH5 underlie a rare subtype of autosomal recessive epidermolysis bullosa simplex.

Rashidghamat E, Ozoemena L, Liu L, McGrath JA, Martinez AE, Mellerio JE. Rashidghamat E, et al. Among authors: ozoemena l. Br J Dermatol. 2016 Feb;174(2):452-3. doi: 10.1111/bjd.14047. Epub 2015 Nov 17. Br J Dermatol. 2016. PMID: 26211931 No abstract available.

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