Ozoemena L - Search Results

1

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.

2

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

3

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

4

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

5

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.

6

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.

7

Mutations in KLHL24 Add to the Molecular Heterogeneity of Epidermolysis Bullosa Simplex.

Lee JYW, Liu L, Hsu CK, Aristodemou S, Ozoemena L, Ogboli M, Moss C, Martinez AE, Mellerio JE, McGrath JA. Lee JYW, et al. Among authors: ozoemena l. J Invest Dermatol. 2017 Jun;137(6):1378-1380. doi: 10.1016/j.jid.2017.01.004. Epub 2017 Jan 19. J Invest Dermatol. 2017. PMID: 28111128 Free article. No abstract available.

8

Phase I/II open-label trial of intravenous allogeneic mesenchymal stromal cell therapy in adults with recessive dystrophic epidermolysis bullosa.

Rashidghamat E, Kadiyirire T, Ayis S, Petrof G, Liu L, Pullabhatla V, Ainali C, Guy A, Aristodemou S, McMillan JR, Ozoemena L, Mee J, Pramanik R, Saxena A, Nuamah R, de Rinaldis E, Serrano S, Maurin C, Martinez-Queipo M, Lwin SM, Ilic D, Martinez A, Dazzi F, Slaper-Cortenbach I, Westinga K, Zeddies S, van den Broek M, Onoufriadis A, Mellerio JE, McGrath JA. Rashidghamat E, et al. Among authors: ozoemena l. J Am Acad Dermatol. 2020 Aug;83(2):447-454. doi: 10.1016/j.jaad.2019.11.038. Epub 2019 Nov 28. J Am Acad Dermatol. 2020. PMID: 31786163 Free article. Clinical Trial.

9

PLACK syndrome: the penny dropped.

O'Sullivan S, Ozoemena L, Liu L, McGrath JA, Mellerio JE, Martinez AE. O'Sullivan S, et al. Among authors: ozoemena l. Clin Exp Dermatol. 2020 Dec;45(8):1091-1092. doi: 10.1111/ced.14417. Epub 2020 Sep 12. Clin Exp Dermatol. 2020. PMID: 32918489 No abstract available.

10

The p.Glu477Lys Mutation in Keratin 5 Is Strongly Associated with Mortality in Generalized Severe Epidermolysis Bullosa Simplex.

Sathishkumar D, Orrin E, Terron-Kwiatkowski A, Browne F, Martinez AE, Mellerio JE, Ogboli M, Hoey S, Ozoemena L, Liu L, Baty D, McGrath JA, Moss C. Sathishkumar D, et al. Among authors: ozoemena l. J Invest Dermatol. 2016 Mar;136(3):719-721. doi: 10.1016/j.jid.2015.11.024. Epub 2015 Dec 30. J Invest Dermatol. 2016. PMID: 26743602 Free article. No abstract available.

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