Choucair N - Search Results

1

Intragenic rearrangements in X-linked intellectual deficiency: results of a-CGH in a series of 54 patients and identification of TRPC5 and KLHL15 as potential XLID genes.

Mignon-Ravix C, Cacciagli P, Choucair N, Popovici C, Missirian C, Milh M, Mégarbané A, Busa T, Julia S, Girard N, Badens C, Sigaudy S, Philip N, Villard L. Mignon-Ravix C, et al. Among authors: choucair n. Am J Med Genet A. 2014 Aug;164A(8):1991-7. doi: 10.1002/ajmg.a.36602. Epub 2014 May 9. Am J Med Genet A. 2014. PMID: 24817631

2

Contribution of copy number variants (CNVs) to congenital, unexplained intellectual and developmental disabilities in Lebanese patients.

Choucair N, Ghoch JA, Corbani S, Cacciagli P, Mignon-Ravix C, Salem N, Jalkh N, El Sabbagh S, Fawaz A, Ibrahim T, Villard L, Mégarbané A, Chouery E. Choucair N, et al. Mol Cytogenet. 2015 Apr 9;8:26. doi: 10.1186/s13039-015-0130-y. eCollection 2015. Mol Cytogenet. 2015. PMID: 25922617 Free PMC article.

3

Evidence that homozygous PTPRD gene microdeletion causes trigonocephaly, hearing loss, and intellectual disability.

Choucair N, Mignon-Ravix C, Cacciagli P, Abou Ghoch J, Fawaz A, Mégarbané A, Villard L, Chouery E. Choucair N, et al. Mol Cytogenet. 2015 Jun 16;8:39. doi: 10.1186/s13039-015-0149-0. eCollection 2015. Mol Cytogenet. 2015. PMID: 26082802 Free PMC article.

4

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. 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

5

Homozygous microdeletion of the ERI1 and MFHAS1 genes in a patient with intellectual disability, limb abnormalities, and cardiac malformation.

Choucair N, Rajab M, Mégarbané A, Chouery E. Choucair N, et al. Am J Med Genet A. 2017 Jul;173(7):1955-1960. doi: 10.1002/ajmg.a.38271. Epub 2017 May 9. Am J Med Genet A. 2017. PMID: 28488351

6

Temple-Baraitser Syndrome and Zimmermann-Laband Syndrome: one clinical entity?

Mégarbané A, Al-Ali R, Choucair N, Lek M, Wang E, Ladjimi M, Rose CM, Hobeika R, Macary Y, Temanni R, Jithesh PV, Chouchane A, Sastry KS, Thomas R, Tomei S, Liu W, Marincola FM, MacArthur D, Chouchane L. Mégarbané A, et al. Among authors: choucair n. BMC Med Genet. 2016 Jun 10;17(1):42. doi: 10.1186/s12881-016-0304-4. BMC Med Genet. 2016. PMID: 27282200 Free PMC article.

7

Report on a patient with a 12q24.31 microdeletion inherited from an insulin-dependent diabetes mellitus father.

Chouery E, Choucair N, Abou Ghoch J, El Sabbagh S, Corbani S, Mégarbané A. Chouery E, et al. Among authors: choucair n. Mol Syndromol. 2013 Mar;4(3):136-42. doi: 10.1159/000346473. Epub 2013 Jan 15. Mol Syndromol. 2013. PMID: 23653585 Free PMC article.

8

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. Among authors: choucair n. 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

9

Immunohistochemical assessment of cannabinoid type-1 receptor (CB1R) and its correlation with clinicopathological parameters in glioma.

Choucair N, Saker Z, Kheir Eddine H, Bahmad HF, Fares Y, Zaarour M, Harati H, Nabha S. Choucair N, et al. Pathologica. 2022 Apr;114(2):128-137. doi: 10.32074/1591-951X-294. Pathologica. 2022. PMID: 35481563 Free PMC article.

10

Laparoscopic sleeve gastrectomy for mildly obese patients (Body Mass Index of 30 <35 kg/m²): operative outcome and short-term results.

Noun R, Chakhtoura G, Nasr M, Skaff J, Choucair N, Rkaybi N, Tohme-Noun C. Noun R, et al. Among authors: choucair n. J Obes. 2012;2012:813650. doi: 10.1155/2012/813650. Epub 2012 Dec 11. J Obes. 2012. PMID: 23304465 Free PMC article.

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