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Null variants and deletions in BRWD3 cause an X-linked syndrome of mild-moderate intellectual disability, macrocephaly, and obesity: A series of 17 patients.
Ostrowski PJ, Zachariou A, Loveday C, Baralle D, Blair E, Douzgou S, Field M, Foster A, Kyle C, Lachlan K, Mansour S, Naik S, Rea G, Smithson S, Sznajer Y, Thompson E, Cole T, Tatton-Brown K. Ostrowski PJ, et al. Among authors: mansour s. Am J Med Genet C Semin Med Genet. 2019 Dec;181(4):638-643. doi: 10.1002/ajmg.c.31750. Epub 2019 Nov 12. Am J Med Genet C Semin Med Genet. 2019. PMID: 31714006
Mutations in RNF135, a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowth.
Douglas J, Cilliers D, Coleman K, Tatton-Brown K, Barker K, Bernhard B, Burn J, Huson S, Josifova D, Lacombe D, Malik M, Mansour S, Reid E, Cormier-Daire V, Cole T; Childhood Overgrowth Collaboration; Rahman N. Douglas J, et al. Among authors: mansour s. Nat Genet. 2007 Aug;39(8):963-5. doi: 10.1038/ng2083. Epub 2007 Jul 15. Nat Genet. 2007. PMID: 17632510
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 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: mansour s. Nat Genet. 2011 Sep 4;43(10):929-31. doi: 10.1038/ng.923. Nat Genet. 2011. PMID: 21892158
Mutation-based growth charts for SEDC and other COL2A1 related dysplasias.
Terhal PA, van Dommelen P, Le Merrer M, Zankl A, Simon ME, Smithson SF, Marcelis C, Kerr B, Kinning E, Mansour S, Hennekam RC, van der Hout AH, Cormier-Daire V, Lund AM, Goodwin L, Mégarbané A, Lees M, Betz RC, Tobias ES, Coucke P, Mortier GR. Terhal PA, et al. Among authors: mansour s. Am J Med Genet C Semin Med Genet. 2012 Aug 15;160C(3):205-16. doi: 10.1002/ajmg.c.31332. Epub 2012 Jul 12. Am J Med Genet C Semin Med Genet. 2012. PMID: 22791362
Myhre and LAPS syndromes: clinical and molecular review of 32 patients.
Michot C, Le Goff C, Mahaut C, Afenjar A, Brooks AS, Campeau PM, Destree A, Di Rocco M, Donnai D, Hennekam R, Heron D, Jacquemont S, Kannu P, Lin AE, Manouvrier-Hanu S, Mansour S, Marlin S, McGowan R, Murphy H, Raas-Rothschild A, Rio M, Simon M, Stolte-Dijkstra I, Stone JR, Sznajer Y, Tolmie J, Touraine R, van den Ende J, Van der Aa N, van Essen T, Verloes A, Munnich A, Cormier-Daire V. Michot C, et al. Among authors: mansour s. Eur J Hum Genet. 2014 Nov;22(11):1272-7. doi: 10.1038/ejhg.2013.288. Epub 2014 Jan 15. Eur J Hum Genet. 2014. PMID: 24424121 Free PMC article.
Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism.
Ansari M, Poke G, Ferry Q, Williamson K, Aldridge R, Meynert AM, Bengani H, Chan CY, Kayserili H, Avci S, Hennekam RC, Lampe AK, Redeker E, Homfray T, Ross A, Falkenberg Smeland M, Mansour S, Parker MJ, Cook JA, Splitt M, Fisher RB, Fryer A, Magee AC, Wilkie A, Barnicoat A, Brady AF, Cooper NS, Mercer C, Deshpande C, Bennett CP, Pilz DT, Ruddy D, Cilliers D, Johnson DS, Josifova D, Rosser E, Thompson EM, Wakeling E, Kinning E, Stewart F, Flinter F, Girisha KM, Cox H, Firth HV, Kingston H, Wee JS, Hurst JA, Clayton-Smith J, Tolmie J, Vogt J, Tatton-Brown K, Chandler K, Prescott K, Wilson L, Behnam M, McEntagart M, Davidson R, Lynch SA, Sisodiya S, Mehta SG, McKee SA, Mohammed S, Holden S, Park SM, Holder SE, Harrison V, McConnell V, Lam WK, Green AJ, Donnai D, Bitner-Glindzicz M, Donnelly DE, Nellåker C, Taylor MS, FitzPatrick DR. Ansari M, et al. Among authors: mansour s. J Med Genet. 2014 Oct;51(10):659-68. doi: 10.1136/jmedgenet-2014-102573. Epub 2014 Aug 14. J Med Genet. 2014. PMID: 25125236 Free PMC article.
1,029 results