Chouery E - Search Results

1

A homozygous mucosa-associated lymphoid tissue 1 (MALT1) mutation in a family with combined immunodeficiency.

Jabara HH, Ohsumi T, Chou J, Massaad MJ, Benson H, Megarbane A, Chouery E, Mikhael R, Gorka O, Gewies A, Portales P, Nakayama T, Hosokawa H, Revy P, Herrod H, Le Deist F, Lefranc G, Ruland J, Geha RS. Jabara HH, et al. Among authors: chouery e. J Allergy Clin Immunol. 2013 Jul;132(1):151-8. doi: 10.1016/j.jaci.2013.04.047. Epub 2013 May 31. J Allergy Clin Immunol. 2013. PMID: 23727036 Free PMC article.

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 Polymorphisms Involved in Bladder Cancer: A Global Review.

Kourie HR, Zouein J, Succar B, Mardirossian A, Ahmadieh N, Chouery E, Mehawej C, Jalkh N, Kattan J, Nemr E. Kourie HR, et al. Among authors: chouery e. Oncol Rev. 2023 Nov 6;17:10603. doi: 10.3389/or.2023.10603. eCollection 2023. Oncol Rev. 2023. PMID: 38025894 Free PMC article.

4

Congenital erythropoietic porphyria: report of a novel mutation with absence of clinical manifestations in a homozygous mutant sibling.

Ged C, Mégarbané H, Chouery E, Lalanne M, Mégarbané A, de Verneuil H. Ged C, et al. Among authors: chouery e. J Invest Dermatol. 2004 Sep;123(3):589-91. doi: 10.1111/j.0022-202X.2004.23401.x. J Invest Dermatol. 2004. PMID: 15304101 Free article.

5

A multiplex family with possible metaphyseal Spahr-type dysplasia and exclusion of RMRP and COL10A1 as candidate genes.

Mégarbané A, Chouery E, Ghanem I. Mégarbané A, et al. Among authors: chouery e. Am J Med Genet A. 2008 Jul 15;146A(14):1865-70. doi: 10.1002/ajmg.a.32390. Am J Med Genet A. 2008. PMID: 18553549

6

Familial Mediterranean fever in a large Lebanese family: multiple MEFV mutations and evidence for a Founder effect of the p.[M694I] mutation.

Medlej-Hashim M, Chouery E, Salem N, Delague V, Lefranc G, Loiselet J, Mégarbané A. Medlej-Hashim M, et al. Among authors: chouery e. Eur J Med Genet. 2011 Jan-Feb;54(1):50-4. doi: 10.1016/j.ejmg.2010.10.001. Epub 2010 Oct 15. Eur J Med Genet. 2011. PMID: 20937419

7

A novel deletion in ZBTB24 in a Lebanese family with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2.

Chouery E, Abou-Ghoch J, Corbani S, El Ali N, Korban R, Salem N, Castro C, Klayme S, Azoury-Abou Rjeily M, Khoury-Matar R, Debo G, Germanos-Haddad M, Delague V, Lefranc G, Mégarbané A. Chouery E, et al. Clin Genet. 2012 Nov;82(5):489-93. doi: 10.1111/j.1399-0004.2011.01783.x. Epub 2011 Oct 5. Clin Genet. 2012. PMID: 21906047

8

Identification of a novel causative mutation in the ROR2 gene in a Lebanese family with a mild form of recessive Robinow syndrome.

Mehawej C, Chouery E, Maalouf D, Baujat G, Le Merrer M, Cormier-Daire V, Mégarbané A. Mehawej C, et al. Among authors: chouery e. Eur J Med Genet. 2012 Feb;55(2):103-8. doi: 10.1016/j.ejmg.2011.11.003. Epub 2011 Nov 27. Eur J Med Genet. 2012. PMID: 22178368

9

Homozygous stop mutation in the SNX10 gene in a consanguineous Iraqi boy with osteopetrosis and corpus callosum hypoplasia.

Mégarbané A, Pangrazio A, Villa A, Chouery E, Maarawi J, Sabbagh S, Lefranc G, Sobacchi C. Mégarbané A, et al. Among authors: chouery e. Eur J Med Genet. 2013 Jan;56(1):32-5. doi: 10.1016/j.ejmg.2012.10.010. Epub 2012 Oct 31. Eur J Med Genet. 2013. PMID: 23123320

10

Report of a novel mutation in CRB1 in a Lebanese family presenting retinal dystrophy.

Jalkh N, Guissart C, Chouery E, Yammine T, El Ali N, Farah HA, Mégarbané A. Jalkh N, et al. Among authors: chouery e. Ophthalmic Genet. 2014 Mar;35(1):57-62. doi: 10.3109/13816810.2013.763995. Epub 2013 Jan 30. Ophthalmic Genet. 2014. PMID: 23362850

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