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Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance.
Clayton-Smith J, Walters S, Hobson E, Burkitt-Wright E, Smith R, Toutain A, Amiel J, Lyonnet S, Mansour S, Fitzpatrick D, Ciccone R, Ricca I, Zuffardi O, Donnai D. Clayton-Smith J, et al. Among authors: mansour s. Eur J Hum Genet. 2009 Apr;17(4):434-43. doi: 10.1038/ejhg.2008.192. Epub 2008 Oct 15. Eur J Hum Genet. 2009. PMID: 18854860 Free PMC article.
Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis.
Jenkins ZA, van Kogelenberg M, Morgan T, Jeffs A, Fukuzawa R, Pearl E, Thaller C, Hing AV, Porteous ME, Garcia-Miñaur S, Bohring A, Lacombe D, Stewart F, Fiskerstrand T, Bindoff L, Berland S, Adès LC, Tchan M, David A, Wilson LC, Hennekam RC, Donnai D, Mansour S, Cormier-Daire V, Robertson SP. Jenkins ZA, et al. Among authors: mansour s. Nat Genet. 2009 Jan;41(1):95-100. doi: 10.1038/ng.270. Epub 2008 Dec 14. Nat Genet. 2009. PMID: 19079258
An atypical case of hypomethylation at multiple imprinted loci.
Baple EL, Poole RL, Mansour S, Willoughby C, Temple IK, Docherty LE, Taylor R, Mackay DJ. Baple EL, et al. Among authors: mansour s. Eur J Hum Genet. 2011 Mar;19(3):360-2. doi: 10.1038/ejhg.2010.218. Epub 2011 Jan 5. Eur J Hum Genet. 2011. PMID: 21206512 Free PMC article.
Bohring-Opitz (Oberklaid-Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis.
Hastings R, Cobben JM, Gillessen-Kaesbach G, Goodship J, Hove H, Kjaergaard S, Kemp H, Kingston H, Lunt P, Mansour S, McGowan R, Metcalfe K, Murdoch-Davis C, Ray M, Rio M, Smithson S, Tolmie J, Turnpenny P, van Bon B, Wieczorek D, Newbury-Ecob R. Hastings R, et al. Among authors: mansour s. Eur J Hum Genet. 2011 May;19(5):513-9. doi: 10.1038/ejhg.2010.234. Epub 2011 Feb 2. Eur J Hum Genet. 2011. PMID: 21368916 Free PMC article. Review.
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: mansour s. 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.
Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa.
Callewaert B, Su CT, Van Damme T, Vlummens P, Malfait F, Vanakker O, Schulz B, Mac Neal M, Davis EC, Lee JG, Salhi A, Unger S, Heimdal K, De Almeida S, Kornak U, Gaspar H, Bresson JL, Prescott K, Gosendi ME, Mansour S, Piérard GE, Madan-Khetarpal S, Sciurba FC, Symoens S, Coucke PJ, Van Maldergem L, Urban Z, De Paepe A. Callewaert B, et al. Among authors: mansour s. Hum Mutat. 2013 Jan;34(1):111-21. doi: 10.1002/humu.22165. Epub 2012 Aug 13. Hum Mutat. 2013. PMID: 22829427 Free PMC article.
1,049 results