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Items: 1 to 20 of 75

1.

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.

Eur J Med Genet. 2011 Jan-Feb;54(1):50-4. doi: 10.1016/j.ejmg.2010.10.001. Epub 2010 Oct 15.

PMID:
20937419
2.

Cost-benefit analysis of G6PD screening in Lebanese newborn males.

Khneisser I, Adib SM, Loiselet J, Megarbane A.

J Med Liban. 2007 Jul-Sep;55(3):129-32.

PMID:
17966732
3.
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.

Eur J Med Genet. 2005 Oct-Dec;48(4):412-20. Epub 2005 Jun 20.

PMID:
16378925
5.

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

Medlej-Hashim M, Loiselet J, Lefranc G, Mégarbané A.

Sante. 2004 Oct-Dec;14(4):261-6. Review. French.

6.

Molecular characterization of G6PD deficiency in Cyprus.

Drousiotou A, Touma EH, Andreou N, Loiselet J, Angastiniotis M, Verrelli BC, Tishkoff SA.

Blood Cells Mol Dis. 2004 Jul-Aug;33(1):25-30.

PMID:
15223006
7.

Diabetes mellitus and optic atrophy: a study of Wolfram syndrome in the Lebanese population.

Medlej R, Wasson J, Baz P, Azar S, Salti I, Loiselet J, Permutt A, Halaby G.

J Clin Endocrinol Metab. 2004 Apr;89(4):1656-61.

PMID:
15070927
8.

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.

BMC Med Genet. 2004 Feb 10;5:4.

9.

A new dominant branchiogenic-deafness syndrome with internal auditory canal hypoplasia and abnormal extremities.

Mégarbané A, Rassi S, Chouery E, Delague V, Perez de Nanclares Leal G, Tabet M, Castaño L, Loiselet J.

Am J Med Genet A. 2003 Jul 15;120A(2):276-82.

PMID:
12833414
10.

Evidence for balancing selection from nucleotide sequence analyses of human G6PD.

Verrelli BC, McDonald JH, Argyropoulos G, Destro-Bisol G, Froment A, Drousiotou A, Lefranc G, Helal AN, Loiselet J, Tishkoff SA.

Am J Hum Genet. 2002 Nov;71(5):1112-28. Epub 2002 Oct 11.

11.

Non-syndromic recessive deafness in Jordan: mapping of a new locus to chromosome 9q34.3 and prevalence of DFNB1 mutations.

Medlej-Hashim M, Mustapha M, Chouery E, Weil D, Parronaud J, Salem N, Delague V, Loiselet J, Lathrop M, Petit C, Mégarbané A.

Eur J Hum Genet. 2002 Jun;10(6):391-4.

12.
13.

DFNB31, a recessive form of sensorineural hearing loss, maps to chromosome 9q32-34.

Mustapha M, Chouery E, Chardenoux S, Naboulsi M, Paronnaud J, Lemainque A, Mégarbané A, Loiselet J, Weil D, Lathrop M, Petit C.

Eur J Hum Genet. 2002 Mar;10(3):210-2.

14.

Otoancorin, an inner ear protein restricted to the interface between the apical surface of sensory epithelia and their overlying acellular gels, is defective in autosomal recessive deafness DFNB22.

Zwaenepoel I, Mustapha M, Leibovici M, Verpy E, Goodyear R, Liu XZ, Nouaille S, Nance WE, Kanaan M, Avraham KB, Tekaia F, Loiselet J, Lathrop M, Richardson G, Petit C.

Proc Natl Acad Sci U S A. 2002 Apr 30;99(9):6240-5. Epub 2002 Apr 23.

15.

A novel locus for Usher syndrome type I, USH1G, maps to chromosome 17q24-25.

Mustapha M, Chouery E, Torchard-Pagnez D, Nouaille S, Khrais A, Sayegh FN, Mégarbané A, Loiselet J, Lathrop M, Petit C, Weil D.

Hum Genet. 2002 Apr;110(4):348-50. Epub 2002 Mar 12.

PMID:
11941484
16.

Familial Mediterranean fever: the potential for misdiagnosis of E148V using the E148Q usual RFLP detection method.

Medlej-Hashim M, Salem N, Chouery E, Rawashdeh M, Delague V, Haffar M, Mansour I, Naman R, Lefranc G, Loiselet J, Mégarbané A.

Clin Genet. 2002 Jan;61(1):71-3. No abstract available.

PMID:
11903360
17.

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.

Eur J Hum Genet. 2001 Nov;9(11):849-54.

18.

Autosomal recessive non-syndromic hearing loss in the Lebanese population: prevalence of the 30delG mutation and report of two novel mutations in the connexin 26 (GJB2) gene.

Mustapha M, Salem N, Delague V, Chouery E, Ghassibeh M, Rai M, Loiselet J, Petit C, Mégarbané A.

J Med Genet. 2001 Oct;38(10):E36. No abstract available.

19.

Nonprogressive autosomal recessive ataxia maps to chromosome 9q34-9qter in a large consanguineous Lebanese family.

Delague V, Bareil C, Bouvagnet P, Salem N, Chouery E, Loiselet J, Mégarbané A, Claustres M.

Ann Neurol. 2001 Aug;50(2):250-3.

PMID:
11506409
20.

Haplotype diversity and linkage disequilibrium at human G6PD: recent origin of alleles that confer malarial resistance.

Tishkoff SA, Varkonyi R, Cahinhinan N, Abbes S, Argyropoulos G, Destro-Bisol G, Drousiotou A, Dangerfield B, Lefranc G, Loiselet J, Piro A, Stoneking M, Tagarelli A, Tagarelli G, Touma EH, Williams SM, Clark AG.

Science. 2001 Jul 20;293(5529):455-62. Epub 2001 Jun 21.

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