Chouery E - Search Results

1

DFNB31, a recessive form of sensorineural hearing loss, maps to chromosome 9q32-34.

Mustapha M, Chouery E, Chardenoux S, Naboulsi M, Paronnaud J, Lemainque A, Mégarbané A, Loiselet J, Weil D, Lathrop M, Petit C. Mustapha M, et al. Among authors: chouery e. Eur J Hum Genet. 2002 Mar;10(3):210-2. doi: 10.1038/sj.ejhg.5200780. Eur J Hum Genet. 2002. PMID: 11973626

2

Genetic profile of borderline ovarian tumors in the Lebanese population by whole-exome sequencing.

Feghaly I, Kourie H, Moubarak M, Chouery E, Mehawej C, Jalkh N, Atallah D. Feghaly I, et al. Among authors: chouery e. Int J Gynaecol Obstet. 2023 Sep;162(3):1027-1032. doi: 10.1002/ijgo.14805. Epub 2023 Apr 25. Int J Gynaecol Obstet. 2023. PMID: 37185951

3

Genetic screening of fourteen mutations in Jordanian familial Mediterranean fever patients.

Medlej-Hashim M, Rawashdeh M, Chouery E, Mansour I, Delague V, Lefranc G, Naman R, Loiselet J, Mégarbané A. Medlej-Hashim M, et al. Among authors: chouery e. Hum Mutat. 2000 Apr;15(4):384. doi: 10.1002/(SICI)1098-1004(200004)15:4<384::AID-HUMU19>3.0.CO;2-U. Hum Mutat. 2000. PMID: 10737992

4

Mapping of a new locus for autosomal recessive demyelinating Charcot-Marie-Tooth disease to 19q13.1-13.3 in a large consanguineous Lebanese family: exclusion of MAG as a candidate gene.

Delague V, Bareil C, Tuffery S, Bouvagnet P, Chouery E, Koussa S, Maisonobe T, Loiselet J, Mégarbané A, Claustres M. Delague V, et al. Among authors: chouery e. Am J Hum Genet. 2000 Jul;67(1):236-43. doi: 10.1086/302980. Epub 2000 Jun 2. Am J Hum Genet. 2000. PMID: 10848494 Free PMC article.

5

Mutational analysis in Lebanese patients with congenital adrenal hyperplasia due to a deficit in 21-hydroxylase.

Delague V, Souraty N, Khallouf E, Tardy V, Chouery E, Halaby G, Loiselet J, Morel Y, Mégarbané A. Delague V, et al. Among authors: chouery e. Horm Res. 2000;53(2):77-82. doi: 10.1159/000023518. Horm Res. 2000. PMID: 10971093

6

Microcephaly, cutis verticis gyrata of the scalp, retinitis pigmentosa, cataracts, sensorineural deafness, and mental retardation in two brothers.

Mégarbané A, Waked N, Chouery E, Moglabey YB, Saliba N, Mornet E, Serre JL, Slim R. Mégarbané A, et al. Among authors: chouery e. Am J Med Genet. 2001 Jan 22;98(3):244-9. doi: 10.1002/1096-8628(20010122)98:3<244::aid-ajmg1084>3.0.co;2-w. Am J Med Genet. 2001. PMID: 11169562

7

Familial Mediterranean fever in Lebanon: mutation spectrum, evidence for cases in Maronites, Greek orthodoxes, Greek catholics, Syriacs and Chiites and for an association between amyloidosis and M694V and M694I mutations.

Mansour I, Delague V, Cazeneuve C, Dodé C, Chouery E, Pêcheux C, Medlej-Hashim M, Salem N, El Zein L, Levan-Petit I, Lefranc G, Goossens M, Delpech M, Amselem S, Loiselet J, Grateau G, Mégarbane A, Naman R. Mansour I, et al. Among authors: chouery e. Eur J Hum Genet. 2001 Jan;9(1):51-5. doi: 10.1038/sj.ejhg.5200574. Eur J Hum Genet. 2001. PMID: 11175300

8

Nonprogressive autosomal recessive ataxia maps to chromosome 9q34-9qter in a large consanguineous Lebanese family.

Delague V, Bareil C, Bouvagnet P, Salem N, Chouery E, Loiselet J, Mégarbané A, Claustres M. Delague V, et al. Among authors: chouery e. Ann Neurol. 2001 Aug;50(2):250-3. Ann Neurol. 2001. PMID: 11506409

9

Autosomal recessive non-syndromic hearing loss in the Lebanese population: prevalence of the 30delG mutation and report of two novel mutations in the connexin 26 (GJB2) gene.

Mustapha M, Salem N, Delague V, Chouery E, Ghassibeh M, Rai M, Loiselet J, Petit C, Mégarbané A. Mustapha M, et al. Among authors: chouery e. J Med Genet. 2001 Oct;38(10):E36. doi: 10.1136/jmg.38.10.e36. J Med Genet. 2001. PMID: 11584050 Free PMC article. No abstract available.

10

Familial Mediterranean Fever: association of elevated IgD plasma levels with specific MEFV mutations.

Medlej-Hashim M, Petit I, Adib S, Chouery E, Salem N, Delague V, Rawashdeh M, Mansour I, Lefranc G, Naman R, Loiselet J, Lecron JC, Serre JL, Mégarbané A. Medlej-Hashim M, et al. Among authors: chouery e. Eur J Hum Genet. 2001 Nov;9(11):849-54. doi: 10.1038/sj.ejhg.5200725. Eur J Hum Genet. 2001. PMID: 11781702

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