Ozoemena L - Search Results

1

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.

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

Single nucleotide polymorphism in a commonly utilized LAMB3 primer sequence: implications for mutation detection and haplotype analysis in junctional epidermolysis bullosa.

Liu L, Choy YS, Wessagowit V, Ozoemena L, Dopping-Hepenstal PJ, Fassihi H, McGrath JA. Liu L, et al. Among authors: ozoemena l. J Dermatol Sci. 2006 Oct;44(1):48-51. doi: 10.1016/j.jdermsci.2006.05.009. Epub 2006 Jun 30. J Dermatol Sci. 2006. PMID: 16814527 No abstract available.

5

Desquamative enteropathy and pyloric atresia without skin disease caused by a novel intracellular beta4 integrin mutation.

Salvestrini C, McGrath JA, Ozoemena L, Husain K, Buhamrah E, Sabery N, Leichtner A, Rufo PA, Perez-Atayde A, Orteu CH, Torrente F, Heuschkel RB, Thomson MA, Murch SH. Salvestrini C, et al. Among authors: ozoemena l. J Pediatr Gastroenterol Nutr. 2008 Nov;47(5):585-91. doi: 10.1097/MPG.0b013e31817af98d. J Pediatr Gastroenterol Nutr. 2008. PMID: 18955862

6

Novel and recurrent COL7A1 mutations in Chilean patients with dystrophic epidermolysis bullosa.

Rodríguez FA, Gana MJ, Yubero MJ, Zillmann G, Krämer SM, Catalán J, Rubio-Astudillo J, González S, Liu L, Ozoemena L, Mellerio JE, McGrath JA, Palisson F, Conget P. Rodríguez FA, et al. Among authors: ozoemena l. J Dermatol Sci. 2012 Feb;65(2):149-52. doi: 10.1016/j.jdermsci.2011.11.010. Epub 2011 Dec 13. J Dermatol Sci. 2012. PMID: 22209565 No abstract available.

7

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

8

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

9

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.

10

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

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