Mansour S - Search Results

1

Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss.

Simpson MA, Irving MD, Asilmaz E, Gray MJ, Dafou D, Elmslie FV, Mansour S, Holder SE, Brain CE, Burton BK, Kim KH, Pauli RM, Aftimos S, Stewart H, Kim CA, Holder-Espinasse M, Robertson SP, Drake WM, Trembath RC. Simpson MA, et al. Among authors: mansour s. Nat Genet. 2011 Mar 6;43(4):303-5. doi: 10.1038/ng.779. Nat Genet. 2011. PMID: 21378985

2

Dominant mutations in ROR2, encoding an orphan receptor tyrosine kinase, cause brachydactyly type B.

Oldridge M, Fortuna AM, Maringa M, Propping P, Mansour S, Pollitt C, DeChiara TM, Kimble RB, Valenzuela DM, Yancopoulos GD, Wilkie AO. Oldridge M, et al. Among authors: mansour s. Nat Genet. 2000 Mar;24(3):275-8. doi: 10.1038/73495. Nat Genet. 2000. PMID: 10700182

3

Carbimazole embryopathy: an emerging phenotype.

Foulds N, Walpole I, Elmslie F, Mansour S. Foulds N, et al. Among authors: mansour s. Am J Med Genet A. 2005 Jan 15;132A(2):130-5. doi: 10.1002/ajmg.a.30418. Am J Med Genet A. 2005. PMID: 15578620 Review.

4

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

5

Homozygous mutation of desmocollin-2 in arrhythmogenic right ventricular cardiomyopathy with mild palmoplantar keratoderma and woolly hair.

Simpson MA, Mansour S, Ahnood D, Kalidas K, Patton MA, McKenna WJ, Behr ER, Crosby AH. Simpson MA, et al. Among authors: mansour s. Cardiology. 2009;113(1):28-34. doi: 10.1159/000165696. Epub 2008 Oct 29. Cardiology. 2009. PMID: 18957847

6

Chondrodysplasia punctata: a clinical diagnostic and radiological review.

Irving MD, Chitty LS, Mansour S, Hall CM. Irving MD, et al. Among authors: mansour s. Clin Dysmorphol. 2008 Oct;17(4):229-41. doi: 10.1097/MCD.0b013e3282fdcc70. Clin Dysmorphol. 2008. PMID: 18978650 Review.

7

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

8

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

9

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.

10

Van Maldergem syndrome: further characterisation and evidence for neuronal migration abnormalities and autosomal recessive inheritance.

Mansour S, Swinkels M, Terhal PA, Wilson LC, Rich P, Van Maldergem L, Zwijnenburg PJ, Hall CM, Robertson SP, Newbury-Ecob R. Mansour S, et al. Eur J Hum Genet. 2012 Oct;20(10):1024-31. doi: 10.1038/ejhg.2012.57. Epub 2012 Apr 4. Eur J Hum Genet. 2012. PMID: 22473091 Free PMC article.

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