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107 results

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Page 1
Novel and recurring ABCA12 mutations associated with harlequin ichthyosis: implications for prenatal diagnosis.
Thomas AC, Sinclair C, Mahmud N, Cullup T, Mellerio JE, Harper J, Dale BA, Turc-Carel C, Hohl D, McGrath JA, Vahlquist A, Hellstrom-Pigg M, Ganemo A, Metcalfe K, Mein CA, O'Toole EA, Kelsell DP. Thomas AC, et al. Among authors: mein ca. Br J Dermatol. 2008 Mar;158(3):611-3. doi: 10.1111/j.1365-2133.2007.08277.x. Epub 2007 Nov 6. Br J Dermatol. 2008. PMID: 17986308 No abstract available.
Harlequin ichthyosis: a review of clinical and molecular findings in 45 cases.
Rajpopat S, Moss C, Mellerio J, Vahlquist A, Gånemo A, Hellstrom-Pigg M, Ilchyshyn A, Burrows N, Lestringant G, Taylor A, Kennedy C, Paige D, Harper J, Glover M, Fleckman P, Everman D, Fouani M, Kayserili H, Purvis D, Hobson E, Chu C, Mein C, Kelsell D, O'Toole E. Rajpopat S, et al. Arch Dermatol. 2011 Jun;147(6):681-6. doi: 10.1001/archdermatol.2011.9. Epub 2011 Feb 21. Arch Dermatol. 2011. PMID: 21339420
Filaggrin mutations are associated with ichthyosis vulgaris in the Bangladeshi population.
Sinclair C, O'Toole EA, Paige D, El Bashir H, Robinson J, Dobson R, Lench N, Stevens HP, Hitman GA, Booy R, Mein CA, Kelsell DP. Sinclair C, et al. Among authors: mein ca. Br J Dermatol. 2009 May;160(5):1113-5. doi: 10.1111/j.1365-2133.2009.09050.x. Epub 2009 Mar 9. Br J Dermatol. 2009. PMID: 19239468 No abstract available.
Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis.
Kelsell DP, Norgett EE, Unsworth H, Teh MT, Cullup T, Mein CA, Dopping-Hepenstal PJ, Dale BA, Tadini G, Fleckman P, Stephens KG, Sybert VP, Mallory SB, North BV, Witt DR, Sprecher E, Taylor AE, Ilchyshyn A, Kennedy CT, Goodyear H, Moss C, Paige D, Harper JI, Young BD, Leigh IM, Eady RA, O'Toole EA. Kelsell DP, et al. Among authors: mein ca. Am J Hum Genet. 2005 May;76(5):794-803. doi: 10.1086/429844. Epub 2005 Mar 8. Am J Hum Genet. 2005. PMID: 15756637 Free PMC article.
ABCA12 is the major harlequin ichthyosis gene.
Thomas AC, Cullup T, Norgett EE, Hill T, Barton S, Dale BA, Sprecher E, Sheridan E, Taylor AE, Wilroy RS, DeLozier C, Burrows N, Goodyear H, Fleckman P, Stephens KG, Mehta L, Watson RM, Graham R, Wolf R, Slavotinek A, Martin M, Bourn D, Mein CA, O'Toole EA, Kelsell DP. Thomas AC, et al. Among authors: mein ca. J Invest Dermatol. 2006 Nov;126(11):2408-13. doi: 10.1038/sj.jid.5700455. Epub 2006 Aug 10. J Invest Dermatol. 2006. PMID: 16902423 Free article.
Homozygous mutations in the 5' region of the JUP gene result in cutaneous disease but normal heart development in children.
Cabral RM, Liu L, Hogan C, Dopping-Hepenstal PJ, Winik BC, Asial RA, Dobson R, Mein CA, Baselaga PA, Mellerio JE, Nanda A, Boente Mdel C, Kelsell DP, McGrath JA, South AP. Cabral RM, et al. Among authors: mein ca. J Invest Dermatol. 2010 Jun;130(6):1543-50. doi: 10.1038/jid.2010.7. Epub 2010 Feb 4. J Invest Dermatol. 2010. PMID: 20130592 Free article.
Mutations in EDA and EDAR Genes in a Large Mexican Hispanic Cohort with Hypohidrotic Ectodermal Dysplasia.
Salas-Alanis JC, Wozniak E, Mein CA, Duran Mckinster CC, Ocampo-Candiani J, Kelsell DP, Hua R, Garza-Rodriguez ML, Choate KA, Barrera Saldaña HA. Salas-Alanis JC, et al. Among authors: mein ca. Ann Dermatol. 2015 Aug;27(4):474-7. doi: 10.5021/ad.2015.27.4.474. Epub 2015 Jul 29. Ann Dermatol. 2015. PMID: 26273176 Free PMC article. No abstract available.
Exome Sequencing and Rare Variant Analysis Reveals Multiple Filaggrin Mutations in Bangladeshi Families with Atopic Eczema and Additional Risk Genes.
Pigors M, Common JEA, Wong XFCC, Malik S, Scott CA, Tabarra N, Liany H, Liu J, Limviphuvadh V, Maurer-Stroh S, Tang MBY, Lench N, Margolis DJ, van Heel DA, Mein CA, Novak N, Baurecht H, Weidinger S, McLean WHI, Irvine AD, O'Toole EA, Simpson MA, Kelsell DP. Pigors M, et al. Among authors: mein ca. J Invest Dermatol. 2018 Dec;138(12):2674-2677. doi: 10.1016/j.jid.2018.05.013. Epub 2018 May 30. J Invest Dermatol. 2018. PMID: 29857066 Free article. No abstract available.
107 results