Souraty N - Search Results

1

Pure partial 7p trisomy including the TWIST, HOXA, and GLI3 genes.

Mégarbané A, Le Lorc'H M, Elghezal H, Joly G, Gosset P, Souraty N, Samaras L, Prieur M, Vekemans M, Turleau C, Romana SP. Mégarbané A, et al. Among authors: souraty n. J Med Genet. 2001 Mar;38(3):178-82. doi: 10.1136/jmg.38.3.178. J Med Genet. 2001. PMID: 11303510 Free PMC article. No abstract available.

2

Interstitial duplication of the short arm of chromosome 2: report of a new case and review.

Mégarbané A, Souraty N, Prieur M, Theophile D, Chédid P, Augé J, Vekemans M. Mégarbané A, et al. Among authors: souraty n. J Med Genet. 1997 Sep;34(9):783-6. doi: 10.1136/jmg.34.9.783. J Med Genet. 1997. PMID: 9321771 Free PMC article. Review.

3

Chromosome 7q22-q31 duplication: report of a new case and review.

Mégarbané A, Gosset P, Souraty N, Lapierre JM, Turleau C, Vekemans M, Loiselet J, Prieur M. Mégarbané A, et al. Among authors: souraty n. Am J Med Genet. 2000 Nov 13;95(2):164-8. Am J Med Genet. 2000. PMID: 11078569

4

Chromosome 10p11.2-p12.2 duplication: report of a patient and review of the literature.

Mégarbané A, Gosset P, Souraty N, Lapierre JM, Korban R, Zahed L, Samaras L, Vekemans M, Prieur M. Mégarbané A, et al. Among authors: souraty n. Am J Med Genet. 2001 Dec 1;104(3):204-8. Am J Med Genet. 2001. PMID: 11754045 Review.

5

Cytogenetic investigation of a child with a mosaic isochromosome 18q and ring 18q.

Souraty N, Sanlaville D, Chédid R, Le Lorc'h M, Maurin ML, Ghanem L, Maalouf S, Vekemans M, Mégarbané A. Souraty N, et al. Eur J Med Genet. 2007 Sep-Oct;50(5):379-85. doi: 10.1016/j.ejmg.2007.06.001. Epub 2007 Jul 17. Eur J Med Genet. 2007. PMID: 17716964

6

Trisomy for the distal segment of the short arm of chromosome 17 in a boy with mild mental retardation and some dysmorphic features.

Mégarbané A, Souraty N, Theophile D, Vekemans M, Samaras L, Ghorayeb Z. Mégarbané A, et al. Among authors: souraty n. Ann Genet. 1997;40(1):55-9. Ann Genet. 1997. PMID: 9150851

7

Craniofacial anomalies, deafness, brachydactyly, short stature, and moderate mental retardation due to a cryptic 6p;11q translocation.

Mégarbané A, Bejjani BA, Shaffer LG, Jambart S, Souraty N, Kashork CD, Le Merrer M. Mégarbané A, et al. Among authors: souraty n. Am J Med Genet. 2002 Feb 15;108(1):69-74. doi: 10.1002/ajmg.10222. Am J Med Genet. 2002. PMID: 11857553

8

Molecular study of six families originating from the Middle-East and presenting with autosomal recessive osteopetrosis.

Souraty N, Noun P, Djambas-Khayat C, Chouery E, Pangrazio A, Villa A, Lefranc G, Frattini A, Mégarbané A. Souraty N, et al. Eur J Med Genet. 2007 May-Jun;50(3):188-99. doi: 10.1016/j.ejmg.2007.01.005. Epub 2007 Feb 21. Eur J Med Genet. 2007. PMID: 17400532

9

Ophthalmo-acromelic syndrome (Waardenburg) with split hand and polydactyly.

Mégarbané A, Souraty N, Tamraz J. Mégarbané A, et al. Among authors: souraty n. Genet Couns. 1998;9(3):195-9. Genet Couns. 1998. PMID: 9777341

10

[Retrospective study of nine Lebanese families with fragile X syndrome and review of the literature].

Zafatayeff S, Zahed L, Souraty N, Megarbane A. Zafatayeff S, et al. Among authors: souraty n. J Med Liban. 1998 Nov-Dec;46(6):317-20. J Med Liban. 1998. PMID: 10349270 Review. French.

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