Lefranc G - Search Results

1

DNA replication is altered in Immunodeficiency Centromeric instability Facial anomalies (ICF) cells carrying DNMT3B mutations.

Lana E, Mégarbané A, Tourrière H, Sarda P, Lefranc G, Claustres M, De Sario A. Lana E, et al. Among authors: lefranc g. Eur J Hum Genet. 2012 Oct;20(10):1044-50. doi: 10.1038/ejhg.2012.41. Epub 2012 Feb 29. Eur J Hum Genet. 2012. PMID: 22378288 Free PMC article.

2

Heterochromatic genes undergo epigenetic changes and escape silencing in immunodeficiency, centromeric instability, facial anomalies (ICF) syndrome.

Brun ME, Lana E, Rivals I, Lefranc G, Sarda P, Claustres M, Mégarbané A, De Sario A. Brun ME, et al. Among authors: lefranc g. PLoS One. 2011 Apr 29;6(4):e19464. doi: 10.1371/journal.pone.0019464. PLoS One. 2011. PMID: 21559330 Free PMC article.

3

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

4

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.

5

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

6

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

7

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

8

Flow cytometry biomarkers distinguish DOCK8 deficiency from severe atopic dermatitis.

Janssen E, Tsitsikov E, Al-Herz W, Lefranc G, Megarbane A, Dasouki M, Bonilla FA, Chatila T, Schneider L, Geha RS. Janssen E, et al. Among authors: lefranc g. Clin Immunol. 2014 Feb;150(2):220-4. doi: 10.1016/j.clim.2013.12.006. Epub 2013 Dec 31. Clin Immunol. 2014. PMID: 24440647 Free PMC article.

9

Clinical, molecular, and cellular immunologic findings in patients with SP110-associated veno-occlusive disease with immunodeficiency syndrome.

Cliffe ST, Bloch DB, Suryani S, Kamsteeg EJ, Avery DT, Palendira U, Church JA, Wainstein BK, Trizzino A, Lefranc G, Akatcherian C, Megarbané A, Gilissen C, Moshous D, Reichenbach J, Misbah S, Salzer U, Abinun M, Ong PY, Stepensky P, Ruga E, Ziegler JB, Wong M, Tangye SG, Lindeman R, Buckley MF, Roscioli T. Cliffe ST, et al. Among authors: lefranc g. J Allergy Clin Immunol. 2012 Sep;130(3):735-742.e6. doi: 10.1016/j.jaci.2012.02.054. Epub 2012 May 21. J Allergy Clin Immunol. 2012. PMID: 22621957

10

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

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