Lefranc G - Search Results

1

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: lefranc g. 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

2

Molecular study of six families originating from the Middle-East and presenting with autosomal recessive osteopetrosis.

Souraty N, Noun P, Djambas-Khayat C, Chouery E, Pangrazio A, Villa A, Lefranc G, Frattini A, Mégarbané A. Souraty N, et al. Among authors: lefranc g. Eur J Med Genet. 2007 May-Jun;50(3):188-99. doi: 10.1016/j.ejmg.2007.01.005. Epub 2007 Feb 21. Eur J Med Genet. 2007. PMID: 17400532

3

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: lefranc g. 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

4

Familial Mediterranean fever (FMF) in Lebanon and Jordan: a population genetics study and report of three novel mutations.

Medlej-Hashim M, Serre JL, Corbani S, Saab O, Jalkh N, Delague V, Chouery E, Salem N, Loiselet J, Lefranc G, Mégarbané A. Medlej-Hashim M, et al. Among authors: lefranc g. Eur J Med Genet. 2005 Oct-Dec;48(4):412-20. doi: 10.1016/j.ejmg.2005.05.010. Epub 2005 Jun 20. Eur J Med Genet. 2005. PMID: 16378925

5

A new familial sclerosing bone dysplasia.

Chouery E, Pangrazio A, Frattini A, Villa A, Van Wesenbeeck L, Piters E, Van Hul W, Coxon FP, Schouten T, Helfrich M, Lefranc G, Mégarbané A. Chouery E, et al. Among authors: lefranc g. J Bone Miner Res. 2010 Mar;25(3):676-80. doi: 10.1359/jbmr.090733. J Bone Miner Res. 2010. PMID: 20422625 Free article.

6

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: lefranc g. BMC Med Genet. 2004 Feb 10;5:4. doi: 10.1186/1471-2350-5-4. BMC Med Genet. 2004. PMID: 15018633 Free PMC article.

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. Among authors: lefranc g. 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

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: lefranc g. Eur J Hum Genet. 2001 Nov;9(11):849-54. doi: 10.1038/sj.ejhg.5200725. Eur J Hum Genet. 2001. PMID: 11781702

9

[Familial Mediterranean Fever (FMF): from diagnosis to treatment].

Medlej-Hashim M, Loiselet J, Lefranc G, Mégarbané A. Medlej-Hashim M, et al. Among authors: lefranc g. Sante. 2004 Oct-Dec;14(4):261-6. Sante. 2004. PMID: 15745878 Free article. Review. French.

10

The intellectual disability of trisomy 21: differences in gene expression in a case series of patients with lower and higher IQ.

Mégarbané A, Noguier F, Stora S, Manchon L, Mircher C, Bruno R, Dorison N, Pierrat F, Rethoré MO, Trentin B, Ravel A, Morent M, Lefranc G, Piquemal D. Mégarbané A, et al. Among authors: lefranc g. Eur J Hum Genet. 2013 Nov;21(11):1253-9. doi: 10.1038/ejhg.2013.24. Epub 2013 Feb 20. Eur J Hum Genet. 2013. PMID: 23422941 Free PMC article.

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