Mansour S - Search Results

1

19p13 microduplications encompassing NFIX are responsible for intellectual disability, short stature and small head circumference.

Trimouille A, Houcinat N, Vuillaume ML, Fergelot P, Boucher C, Toutain J, Caignec CL, Vincent M, Nizon M, Andrieux J, Vanlerberghe C, Delobel B, Duban B, Mansour S, Baple E, McKeown C, Poke G, Robertshaw K, Fifield E, Fabretto A, Pecile V, Gasparini P, Carrozzi M, Lacombe D, Arveiler B, Rooryck C, Moutton S. Trimouille A, et al. Among authors: mansour s. Eur J Hum Genet. 2018 Jan;26(1):85-93. doi: 10.1038/s41431-017-0037-7. Epub 2017 Nov 28. Eur J Hum Genet. 2018. PMID: 29184170 Free PMC article.

2

A gene for lymphedema-distichiasis maps to 16q24.3.

Mangion J, Rahman N, Mansour S, Brice G, Rosbotham J, Child AH, Murday VA, Mortimer PS, Barfoot R, Sigurdsson A, Edkins S, Sarfarazi M, Burnand K, Evans AL, Nunan TO, Stratton MR, Jeffery S. Mangion J, et al. Among authors: mansour s. Am J Hum Genet. 1999 Aug;65(2):427-32. doi: 10.1086/302500. Am J Hum Genet. 1999. PMID: 10417285 Free PMC article.

3

Analysis of lymphoedema-distichiasis families for FOXC2 mutations reveals small insertions and deletions throughout the gene.

Bell R, Brice G, Child AH, Murday VA, Mansour S, Sandy CJ, Collin JR, Brady AF, Callen DF, Burnand K, Mortimer P, Jeffery S. Bell R, et al. Among authors: mansour s. Hum Genet. 2001 Jun;108(6):546-51. doi: 10.1007/s004390100528. Hum Genet. 2001. PMID: 11499682

4

Analysis of the phenotypic abnormalities in lymphoedema-distichiasis syndrome in 74 patients with FOXC2 mutations or linkage to 16q24.

Brice G, Mansour S, Bell R, Collin JR, Child AH, Brady AF, Sarfarazi M, Burnand KG, Jeffery S, Mortimer P, Murday VA. Brice G, et al. Among authors: mansour s. J Med Genet. 2002 Jul;39(7):478-83. doi: 10.1136/jmg.39.7.478. J Med Genet. 2002. PMID: 12114478 Free PMC article.

5

Lymphoedema-distichiasis and FOXC2: unreported mutations, de novo mutation estimate, families without coding mutations.

Sholto-Douglas-Vernon C, Bell R, Brice G, Mansour S, Sarfarazi M, Child AH, Smith A, Mellor R, Burnand K, Mortimer P, Jeffery S. Sholto-Douglas-Vernon C, et al. Among authors: mansour s. Hum Genet. 2005 Jul;117(2-3):238-42. doi: 10.1007/s00439-005-1275-2. Epub 2005 May 20. Hum Genet. 2005. PMID: 15906099

6

Primary non-syndromic lymphoedema (Meige disease) is not caused by mutations in FOXC2.

Rezaie T, Ghoroghchian R, Bell R, Brice G, Hasan A, Burnand K, Vernon S, Mansour S, Mortimer P, Jeffery S, Child A, Sarfarazi M. Rezaie T, et al. Among authors: mansour s. Eur J Hum Genet. 2008 Mar;16(3):300-4. doi: 10.1038/sj.ejhg.5201982. Epub 2008 Jan 16. Eur J Hum Genet. 2008. PMID: 18197197

7

Linkage and sequence analysis indicate that CCBE1 is mutated in recessively inherited generalised lymphatic dysplasia.

Connell F, Kalidas K, Ostergaard P, Brice G, Homfray T, Roberts L, Bunyan DJ, Mitton S, Mansour S, Mortimer P, Jeffery S; Lymphoedema Consortium. Connell F, et al. Among authors: mansour s. Hum Genet. 2010 Feb;127(2):231-41. doi: 10.1007/s00439-009-0766-y. Epub 2009 Nov 13. Hum Genet. 2010. PMID: 19911200

8

Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome.

Clayton-Smith J, O'Sullivan J, Daly S, Bhaskar S, Day R, Anderson B, Voss AK, Thomas T, Biesecker LG, Smith P, Fryer A, Chandler KE, Kerr B, Tassabehji M, Lynch SA, Krajewska-Walasek M, McKee S, Smith J, Sweeney E, Mansour S, Mohammed S, Donnai D, Black G. Clayton-Smith J, et al. Among authors: mansour s. Am J Hum Genet. 2011 Nov 11;89(5):675-81. doi: 10.1016/j.ajhg.2011.10.008. Am J Hum Genet. 2011. PMID: 22077973 Free PMC article.

9

7q11.23 Microduplication: a recognizable phenotype.

Dixit A, McKee S, Mansour S, Mehta SG, Tanteles GA, Anastasiadou V, Patsalis PC, Martin K, McCullough S, Suri M, Sarkar A. Dixit A, et al. Among authors: mansour s. Clin Genet. 2013 Feb;83(2):155-61. doi: 10.1111/j.1399-0004.2012.01862.x. Epub 2012 Apr 8. Clin Genet. 2013. PMID: 22369319

10

A novel mutation in GJA1 causing oculodentodigital syndrome and primary lymphoedema in a three generation family.

Brice G, Ostergaard P, Jeffery S, Gordon K, Mortimer PS, Mansour S. Brice G, et al. Among authors: mansour s. Clin Genet. 2013 Oct;84(4):378-81. doi: 10.1111/cge.12158. Epub 2013 Apr 26. Clin Genet. 2013. PMID: 23550541

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