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260 results

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Page 1
PSENEN and NCSTN mutations in familial hidradenitis suppurativa (Acne Inversa).
Pink AE, Simpson MA, Brice GW, Smith CH, Desai N, Mortimer PS, Barker JN, Trembath RC. Pink AE, et al. Among authors: mortimer ps. J Invest Dermatol. 2011 Jul;131(7):1568-70. doi: 10.1038/jid.2011.42. Epub 2011 Mar 17. J Invest Dermatol. 2011. PMID: 21412258 Free article. No abstract available.
Rapid identification of mutations in GJC2 in primary lymphoedema using whole exome sequencing combined with linkage analysis with delineation of the phenotype.
Ostergaard P, Simpson MA, Brice G, Mansour S, Connell FC, Onoufriadis A, Child AH, Hwang J, Kalidas K, Mortimer PS, Trembath R, Jeffery S. Ostergaard P, et al. Among authors: mortimer ps. J Med Genet. 2011 Apr;48(4):251-5. doi: 10.1136/jmg.2010.085563. Epub 2011 Jan 25. J Med Genet. 2011. PMID: 21266381
Clinicopathological case 2: lymphoedema-distichiasis syndrome.
Ameen M, Brice G, Mortimer PS. Ameen M, et al. Among authors: mortimer ps. Clin Exp Dermatol. 2003 Jul;28(4):463-4. doi: 10.1046/j.1365-2230.2003.01277.x. Clin Exp Dermatol. 2003. PMID: 12823324 No abstract available.
Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome).
Ostergaard P, Simpson MA, Connell FC, Steward CG, Brice G, Woollard WJ, Dafou D, Kilo T, Smithson S, Lunt P, Murday VA, Hodgson S, Keenan R, Pilz DT, Martinez-Corral I, Makinen T, Mortimer PS, Jeffery S, Trembath RC, Mansour S. Ostergaard P, et al. Among authors: mortimer ps. Nat Genet. 2011 Sep 4;43(10):929-31. doi: 10.1038/ng.923. Nat Genet. 2011. PMID: 21892158
Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy.
Ostergaard P, Simpson MA, Mendola A, Vasudevan P, Connell FC, van Impel A, Moore AT, Loeys BL, Ghalamkarpour A, Onoufriadis A, Martinez-Corral I, Devery S, Leroy JG, van Laer L, Singer A, Bialer MG, McEntagart M, Quarrell O, Brice G, Trembath RC, Schulte-Merker S, Makinen T, Vikkula M, Mortimer PS, Mansour S, Jeffery S. Ostergaard P, et al. Among authors: mortimer ps. Am J Hum Genet. 2012 Feb 10;90(2):356-62. doi: 10.1016/j.ajhg.2011.12.018. Epub 2012 Jan 26. Am J Hum Genet. 2012. PMID: 22284827 Free PMC article.
Mutation in vascular endothelial growth factor-C, a ligand for vascular endothelial growth factor receptor-3, is associated with autosomal dominant milroy-like primary lymphedema.
Gordon K, Schulte D, Brice G, Simpson MA, Roukens MG, van Impel A, Connell F, Kalidas K, Jeffery S, Mortimer PS, Mansour S, Schulte-Merker S, Ostergaard P. Gordon K, et al. Among authors: mortimer ps. Circ Res. 2013 Mar 15;112(6):956-60. doi: 10.1161/CIRCRESAHA.113.300350. Epub 2013 Feb 14. Circ Res. 2013. PMID: 23410910
Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis.
Fotiou E, Martin-Almedina S, Simpson MA, Lin S, Gordon K, Brice G, Atton G, Jeffery I, Rees DC, Mignot C, Vogt J, Homfray T, Snyder MP, Rockson SG, Jeffery S, Mortimer PS, Mansour S, Ostergaard P. Fotiou E, et al. Among authors: mortimer ps. Nat Commun. 2015 Sep 3;6:8085. doi: 10.1038/ncomms9085. Nat Commun. 2015. PMID: 26333996 Free PMC article.
260 results