Mégarbané A - 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: megarbane a. 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

Subcellular distribution of HP1 proteins is altered in ICF syndrome.

Luciani JJ, Depetris D, Missirian C, Mignon-Ravix C, Metzler-Guillemain C, Megarbane A, Moncla A, Mattei MG. Luciani JJ, et al. Among authors: megarbane a. Eur J Hum Genet. 2005 Jan;13(1):41-51. doi: 10.1038/sj.ejhg.5201293. Eur J Hum Genet. 2005. PMID: 15470359

3

PML nuclear bodies are highly organised DNA-protein structures with a function in heterochromatin remodelling at the G2 phase.

Luciani JJ, Depetris D, Usson Y, Metzler-Guillemain C, Mignon-Ravix C, Mitchell MJ, Megarbane A, Sarda P, Sirma H, Moncla A, Feunteun J, Mattei MG. Luciani JJ, et al. Among authors: megarbane a. J Cell Sci. 2006 Jun 15;119(Pt 12):2518-31. doi: 10.1242/jcs.02965. Epub 2006 May 30. J Cell Sci. 2006. PMID: 16735446

4

Characterization of a de novo balanced translocation in a patient with moderate mental retardation and dysmorphic features.

Haddad MR, Mignon-Ravix C, Cacciagli P, Mégarbané A, Villard L. Haddad MR, et al. Among authors: megarbane a. Eur J Med Genet. 2009 Jul-Aug;52(4):211-7. doi: 10.1016/j.ejmg.2009.04.002. Epub 2009 Apr 18. Eur J Med Genet. 2009. PMID: 19379847

5

Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease.

Muller J, Stoetzel C, Vincent MC, Leitch CC, Laurier V, Danse JM, Hellé S, Marion V, Bennouna-Greene V, Vicaire S, Megarbane A, Kaplan J, Drouin-Garraud V, Hamdani M, Sigaudy S, Francannet C, Roume J, Bitoun P, Goldenberg A, Philip N, Odent S, Green J, Cossée M, Davis EE, Katsanis N, Bonneau D, Verloes A, Poch O, Mandel JL, Dollfus H. Muller J, et al. Among authors: megarbane a. Hum Genet. 2010 Mar;127(5):583-93. doi: 10.1007/s00439-010-0804-9. Epub 2010 Feb 23. Hum Genet. 2010. PMID: 20177705 Free PMC article.

6

How many entities exist for the spectrum of disorders associated with brachydactyly, syndactyly, short stature, microcephaly, and intellectual disability?

Ravel A, Chouery E, Stora S, Jalkh N, Villard L, Temtamy S, Mégarbané A. Ravel A, et al. Among authors: megarbane a. Am J Med Genet A. 2011 Apr;155A(4):880-4. doi: 10.1002/ajmg.a.33879. Epub 2011 Mar 17. Am J Med Genet A. 2011. PMID: 21416592

7

Ambiguous genitalia, microcephaly, seizures, bone malformations, and early death: a distinct MCA/MR syndrome.

Mégarbané A, Chouery E, Mignon-Ravix C, El Sabbagh S, Corbani S, Ghoch JA, Jalkh N, Mehawej C, Lévy N, Villard L. Mégarbané A, et al. Am J Med Genet A. 2011 May;155A(5):1147-51. doi: 10.1002/ajmg.a.33938. Epub 2011 Apr 4. Am J Med Genet A. 2011. PMID: 21465653

8

Molecular screening of MECP2 gene in a cohort of Lebanese patients suspected with Rett syndrome: report on a mild case with a novel indel mutation.

Corbani S, Chouery E, Fayyad J, Fawaz A, El Tourjuman O, Badens C, Lacoste C, Delague V, Megarbane A. Corbani S, et al. Among authors: megarbane a. J Intellect Disabil Res. 2012 Apr;56(4):415-20. doi: 10.1111/j.1365-2788.2011.01479.x. Epub 2011 Sep 29. J Intellect Disabil Res. 2012. PMID: 21954873

9

A novel mutation in the PORCN gene underlying a case of almost unilateral focal dermal hypoplasia.

Maalouf D, Mégarbané H, Chouery E, Nasr J, Badens C, Lacoste C, Grzeschik KH, Mégarbané A. Maalouf D, et al. Among authors: megarbane a, megarbane h. Arch Dermatol. 2012 Jan;148(1):85-8. doi: 10.1001/archdermatol.2011.343. Arch Dermatol. 2012. PMID: 22250236

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. Among authors: megarbane a, megarbane h. 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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