Chouery E - Search Results

1

Vibratory Urticaria Associated with a Missense Variant in ADGRE2.

Boyden SE, Desai A, Cruse G, Young ML, Bolan HC, Scott LM, Eisch AR, Long RD, Lee CC, Satorius CL, Pakstis AJ, Olivera A, Mullikin JC, Chouery E, Mégarbané A, Medlej-Hashim M, Kidd KK, Kastner DL, Metcalfe DD, Komarow HD. Boyden SE, et al. Among authors: chouery e. N Engl J Med. 2016 Feb 18;374(7):656-63. doi: 10.1056/NEJMoa1500611. Epub 2016 Feb 3. N Engl J Med. 2016. PMID: 26841242 Free PMC article.

2

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

3

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

4

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

5

Craniosynostosis, telecanthus, scalp hair abnormalities, and sensorineural deafness in two sibs.

Mégarbané A, Hersh JH, Chouery E, Fabre M. Mégarbané A, et al. Among authors: chouery e. Am J Med Genet. 2002 May 15;109(4):323-7. doi: 10.1002/ajmg.10370. Am J Med Genet. 2002. PMID: 11992488

6

An unknown autoinflammatory syndrome associated with short stature and dysmorphic features in a young boy.

Mégarbané A, Sanders A, Chouery E, Delague V, Medlej-Hashim M, Torbey PH. Mégarbané A, et al. Among authors: chouery e. J Rheumatol. 2002 May;29(5):1084-7. J Rheumatol. 2002. PMID: 12022327

7

A new autosomal recessive non-progressive congenital cerebellar ataxia associated with mental retardation, optic atrophy, and skin abnormalities (CAMOS) maps to chromosome 15q24-q26 in a large consanguineous Lebanese Druze 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. Neurogenetics. 2002 Mar;4(1):23-7. doi: 10.1007/s10048-001-0127-z. Neurogenetics. 2002. PMID: 12030328

8

Non-syndromic recessive deafness in Jordan: mapping of a new locus to chromosome 9q34.3 and prevalence of DFNB1 mutations.

Medlej-Hashim M, Mustapha M, Chouery E, Weil D, Parronaud J, Salem N, Delague V, Loiselet J, Lathrop M, Petit C, Mégarbané A. Medlej-Hashim M, et al. Among authors: chouery e. Eur J Hum Genet. 2002 Jun;10(6):391-4. doi: 10.1038/sj.ejhg.5200813. Eur J Hum Genet. 2002. PMID: 12080392

9

Amyloidosis in familial Mediterranean fever patients: correlation with MEFV genotype and SAA1 and MICA polymorphisms effects.

Medlej-Hashim M, Delague V, Chouery E, Salem N, Rawashdeh M, Lefranc G, Loiselet J, Mégarbané A. Medlej-Hashim M, et al. Among authors: chouery e. BMC Med Genet. 2004 Feb 10;5:4. doi: 10.1186/1471-2350-5-4. BMC Med Genet. 2004. PMID: 15018633 Free PMC article.

10

A new autosomal recessive oto-facial syndrome with midline malformations.

Mégarbané A, Chouery E, Rassi S, Delague V. Mégarbané A, et al. Among authors: chouery e. Am J Med Genet A. 2005 Feb 1;132A(4):398-401. doi: 10.1002/ajmg.a.30479. Am J Med Genet A. 2005. PMID: 15633182

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