Abou-Ghoch J - Search Results

1

SMOC1 is essential for ocular and limb development in humans and mice.

Okada I, Hamanoue H, Terada K, Tohma T, Megarbane A, Chouery E, Abou-Ghoch J, Jalkh N, Cogulu O, Ozkinay F, Horie K, Takeda J, Furuichi T, Ikegawa S, Nishiyama K, Miyatake S, Nishimura A, Mizuguchi T, Niikawa N, Hirahara F, Kaname T, Yoshiura K, Tsurusaki Y, Doi H, Miyake N, Furukawa T, Matsumoto N, Saitsu H. Okada I, et al. Am J Hum Genet. 2011 Jan 7;88(1):30-41. doi: 10.1016/j.ajhg.2010.11.012. Epub 2010 Dec 30. Am J Hum Genet. 2011. PMID: 21194678 Free PMC article.

2

Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy.

Bernard G, Chouery E, Putorti ML, Tétreault M, Takanohashi A, Carosso G, Clément I, Boespflug-Tanguy O, Rodriguez D, Delague V, Abou Ghoch J, Jalkh N, Dorboz I, Fribourg S, Teichmann M, Megarbane A, Schiffmann R, Vanderver A, Brais B. Bernard G, et al. Am J Hum Genet. 2011 Sep 9;89(3):415-23. doi: 10.1016/j.ajhg.2011.07.014. Am J Hum Genet. 2011. PMID: 21855841 Free PMC article.

3

10q26.1 Microdeletion: Redefining the critical regions for microcephaly and genital anomalies.

Choucair N, Abou Ghoch J, Fawaz A, Mégarbané A, Chouery E. Choucair N, et al. Among authors: abou ghoch j. Am J Med Genet A. 2015 Nov;167A(11):2707-13. doi: 10.1002/ajmg.a.37211. Epub 2015 Jun 26. Am J Med Genet A. 2015. PMID: 26114870

4

First molecular study in Lebanese patients with Cockayne syndrome and report of a novel mutation in ERCC8 gene.

Chebly A, Corbani S, Abou Ghoch J, Mehawej C, Megarbane A, Chouery E. Chebly A, et al. Among authors: abou ghoch j. BMC Med Genet. 2018 Sep 10;19(1):161. doi: 10.1186/s12881-018-0677-7. BMC Med Genet. 2018. PMID: 30200888 Free PMC article.

5

A homozygous stop gain mutation in BOD1 gene in a Lebanese patient with syndromic intellectual disability.

Hamdan N, Mehawej C, Sebaaly G, Jalkh N, Corbani S, Abou-Ghoch J, De Backer O, Chouery E. Hamdan N, et al. Among authors: abou ghoch j. Clin Genet. 2020 Sep;98(3):288-292. doi: 10.1111/cge.13799. Clin Genet. 2020. PMID: 32578875

6

Developmental delay, dysmorphic features, neonatal spontaneous fractures, wrinkled skin, and hepatic failure: a new metabolic syndrome?

Mégarbané A, Samaras L, Chédid R, Chouery E, Chrétien D, Caillaud C, Abou-Ghoch J, Jalkh N. Mégarbané A, et al. Am J Med Genet A. 2008 Dec 15;146A(24):3198-201. doi: 10.1002/ajmg.a.32579. Am J Med Genet A. 2008. PMID: 19012336

7

A Homozygous Splicing Mutation in PDE2A in a Family With Atypical Rett Syndrome.

Haidar Z, Jalkh N, Corbani S, Abou-Ghoch J, Fawaz A, Mehawej C, Chouery E. Haidar Z, et al. Among authors: abou ghoch j. Mov Disord. 2020 May;35(5):896-899. doi: 10.1002/mds.28023. Epub 2020 Mar 20. Mov Disord. 2020. PMID: 32196122 No abstract available.

8

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

9

RAC1 expression and role in IL-1β production and oxidative stress generation in familial Mediterranean fever (FMF) patients.

Ibrahim JN, Jounblat R, Jalkh N, Abou Ghoch J, Al Hageh C, Chouery E, Mégarbané A, Lecron JC, Medlej-Hashim M. Ibrahim JN, et al. Among authors: abou ghoch j. Eur Cytokine Netw. 2018 Nov 1;29(4):127-135. doi: 10.1684/ecn.2018.0416. Eur Cytokine Netw. 2018. PMID: 30698144

10

Homozygous mutation of the IGF1 receptor gene in a patient with severe pre- and postnatal growth failure and congenital malformations.

Gannagé-Yared MH, Klammt J, Chouery E, Corbani S, Mégarbané H, Abou Ghoch J, Choucair N, Pfäffle R, Mégarbané A. Gannagé-Yared MH, et al. Eur J Endocrinol. 2012 Dec 10;168(1):K1-7. doi: 10.1530/EJE-12-0701. Print 2013 Jan. Eur J Endocrinol. 2012. PMID: 23045302

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