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Jacques Loiselet

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Lebanon

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Publications

TOP 3
Myrna Medlej-Hashim; Eliane Chouery; Nabiha Salem; Valérie Delague; Gérard Lefranc; Jacques Loiselet; André Mégarbané
Familial Mediterranean fever in a large Lebanese family: multiple MEFV mutations and evidence for a Founder effect of the p.[M694I] mutation.
Issam Khneisser; Salim M Adib; Jacques Loiselet; André Megarbane
Cost-benefit analysis of G6PD screening in Lebanese newborn males.
Issam Khneisser; Salim M Adib; Jacques Loiselet; André Mégarbané
Prevalence of G6PD deficiency and knowledge of diagnosis in a sample of previously unscreened Lebanese males: clinical implications.

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All Publications

2011: Myrna Medlej-Hashim; Eliane Chouery; Nabiha Salem; Valérie Delague; Gérard Lefranc; Jacques Loiselet; André Mégarbané
Familial Mediterranean fever in a large Lebanese family: multiple MEFV mutations and evidence for a Founder effect of the p.[M694I] mutation.
European journal of medical genetics 2011;54(1):50-4.
2007: Issam Khneisser; Salim M Adib; Jacques Loiselet; André Megarbane
Cost-benefit analysis of G6PD screening in Lebanese newborn males.
Le Journal médical libanais. The Lebanese medical journal 2007;55(3):129-32.
2006: Issam Khneisser; Salim M Adib; Jacques Loiselet; André Mégarbané
Prevalence of G6PD deficiency and knowledge of diagnosis in a sample of previously unscreened Lebanese males: clinical implications.
Journal of medical screening 2006;13(1):26-8.
2005: Myrna Medlej-Hashim; Jean-Louis Serre; Sandra Corbani; Odile Saab; Nadine Jalkh; Valérie Delague; Eliane Chouery; Nabiha Salem; Jacques Loiselet; Gérard Lefranc; André Mégarbané
Familial Mediterranean fever (FMF) in Lebanon and Jordan: a population genetics study and report of three novel mutations.
European journal of medical genetics 2005;48(4):412-20.
2004: Myrna Medlej-Hashim; Jacques Loiselet; Gérard Lefranc; André Mégarbané
[Familial Mediterranean Fever (FMF): from diagnosis to treatment].
Santé (Montrouge, France) 2004;14(4):261-6.
2004: Anthi Drousiotou; Elias H Touma; Nicoletta Andreou; Jacques Loiselet; Michael Angastiniotis; Brian C Verrelli; Sarah A Tishkoff
Molecular characterization of G6PD deficiency in Cyprus.
Blood cells, molecules & diseases 2004;33(1):25-30.
2004: R Medlej; J Wasson; P Baz; Sami T Azar; Ibrahim Salti; Jacques Loiselet; A Permutt; Georges Halaby
Diabetes mellitus and optic atrophy: a study of Wolfram syndrome in the Lebanese population.
The Journal of clinical endocrinology and metabolism 2004;89(4):1656-61.
2004: Myrna Medlej-Hashim; Valérie Delague; Eliane Chouery; Nabiha Salem; Mohammed Rawashdeh; Gérard Lefranc; Jacques Loiselet; André Mégarbané
Amyloidosis in familial Mediterranean fever patients: correlation with MEFV genotype and SAA1 and MICA polymorphisms effects.
BMC medical genetics 2004;5():4.
2003: André Mégarbané; Simon Rassi; Eliane Chouery; Valérie Delague; Gustavo Perez de Nanclares Leal; Murielle Tabet; Luis Castaño; Jacques Loiselet
A new dominant branchiogenic-deafness syndrome with internal auditory canal hypoplasia and abnormal extremities.
American journal of medical genetics. Part A 2003;120A(2):276-82.
2002: Brian C Verrelli; John H McDonald; George Argyropoulos; Giovanni Destro-Bisol; Alain Froment; Anthi Drousiotou; Gérard Lefranc; Ahmed N Helal; Jacques Loiselet; Sarah A Tishkoff
Evidence for balancing selection from nucleotide sequence analyses of human G6PD.
American journal of human genetics 2002;71(5):1112-28.
2002: Myrna Medlej-Hashim; Mirna Mustapha; Eliane Chouery; Dominique Weil; Joel Parronaud; Nabiha Salem; Valérie Delague; Jacques Loiselet; Mark Lathrop; Christine Petit; André Mégarbané
Non-syndromic recessive deafness in Jordan: mapping of a new locus to chromosome 9q34.3 and prevalence of DFNB1 mutations.
European journal of human genetics : EJHG 2002;10(6):391-4.
2002: Ingrid Zwaenepoel; Mirna Mustapha; Michel Leibovici; Elisabeth Verpy; Richard J Goodyear; Xue Zhong Liu; Sylvie Nouaille; Walter E Nance; Moien Kanaan; Karen B Avraham; Fredj Tekaia; Jacques Loiselet; Mark Lathrop; Guy Richardson; Christine Petit
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.
Proceedings of the National Academy of Sciences of the United States of America 2002;99(9):6240-5.
2002: Mirna Mustapha; Eliane Chouery; Delphine Torchard-Pagnez; Sylvie Nouaille; Awni Khrais; Fouad N Sayegh; André Mégarbané; Jacques Loiselet; Mark Lathrop; Christine Petit; Dominique Weil
A novel locus for Usher syndrome type I, USH1G, maps to chromosome 17q24-25.
Human genetics 2002;110(4):348-50.
2002: Valérie Delague; Corinne Bareil; Patrice Bouvagnet; Nabiha Salem; Eliane Chouery; Jacques Loiselet; André Mégarbané; Mireille Claustres
A new autosomal recessive non-progressive congenital cerebellar ataxia associated with mental retardation, optic atrophy, and skin abnormalities (CAMOS) maps to chromosome 15q24-q26 in a large consanguineous Lebanese Druze Family.
Neurogenetics 2002;4(1):23-7.
2002: Mirna Mustapha; Eliane Chouery; Sébastien Chardenoux; Mohamed Naboulsi; Joël Paronnaud; Arnaud Lemainque; André Mégarbané; Jacques Loiselet; Dominique Weil; Mark Lathrop; Christine Petit
DFNB31, a recessive form of sensorineural hearing loss, maps to chromosome 9q32-34.
European journal of human genetics : EJHG 2002;10(3):210-2.
2002: Myrna Medlej-Hashim; Nabiha Salem; Eliane Chouery; Mohammed Rawashdeh; Valérie Delague; M Haffar; Issam Mansour; Roger Naman; Gérard Lefranc; Jacques Loiselet; André Mégarbané
Familial Mediterranean fever: the potential for misdiagnosis of E148V using the E148Q usual RFLP detection method.
Clinical genetics 2002;61(1):71-3.
2001: Myrna Medlej-Hashim; Isabelle Petit; Salim M Adib; Eliane Chouery; Nabiha Salem; Valérie Delague; Mohammed Rawashdeh; Issam Mansour; Gérard Lefranc; Roger Naman; Jacques Loiselet; Jean-Claude Lecron; Jean-Louis Serre; André Mégarbané
Familial Mediterranean Fever: association of elevated IgD plasma levels with specific MEFV mutations.
European journal of human genetics : EJHG 2001;9(11):849-54.
2001: Mirna Mustapha; Nabiha Salem; Valérie Delague; Eliane Chouery; M Ghassibeh; MYRIAM RAI; Jacques Loiselet; Christine Petit; André Mégarbané
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.
Journal of medical genetics 2001;38(10):E36.
2001: Valérie Delague; Corinne Bareil; Patrice Bouvagnet; Nabiha Salem; Eliane Chouery; Jacques Loiselet; André Mégarbané; Mireille Claustres
Nonprogressive autosomal recessive ataxia maps to chromosome 9q34-9qter in a large consanguineous Lebanese family.
Annals of neurology 2001;50(2):250-3.
2001: Sarah A Tishkoff; R Varkonyi; N Cahinhinan; S Abbes; George Argyropoulos; Giovanni Destro-Bisol; Anthi Drousiotou; B Dangerfield; Gérard Lefranc; Jacques Loiselet; Anna Piro; M Stoneking; Antonio Tagarelli; Giuseppe Tagarelli; Elias H Touma; scott williams; andrew clark
Haplotype diversity and linkage disequilibrium at human G6PD: recent origin of alleles that confer malarial resistance.
Science (New York, N.Y.) 2001;293(5529):455-62.
2001: Issam Mansour; Valérie Delague; Cécile Cazeneuve; Catherine Dodé; Eliane Chouery; Christophe Pêcheux; Myrna Medlej-Hashim; Nabiha Salem; L El Zein; I Levan-Petit; Gérard Lefranc; M Goossens; Marc Delpech; Serge Amselem; Jacques Loiselet; Gilles Grateau; A Mégarbane; Roger Naman
Familial Mediterranean fever in Lebanon: mutation spectrum, evidence for cases in Maronites, Greek orthodoxes, Greek catholics, Syriacs and Chiites and for an association between amyloidosis and M694V and M694I mutations.
European journal of human genetics : EJHG 2001;9(1):51-5.
2000: André Mégarbané; Mirna Mustapha; J Bleik; Naji Waked; Valérie Delague; Jacques Loiselet
Exclusion of chromosome 15q21.1 in autosomal-recessive Weill-Marchesani syndrome in an inbred Lebanese family.
Clinical genetics 2000;58(6):473-8.
2000: André Mégarbané; Philippe Gosset; Noëlle Souraty; Jean-Michel Lapierre; Catherine Turleau; Michel Vekemans; Jacques Loiselet; Marguerite Prieur
Chromosome 7q22-q31 duplication: report of a new case and review.
American journal of medical genetics 2000;95(2):164-8.
2000: André Mégarbané; I Melki; Noëlle Souraty; J Gerbaka; Vincent El Ghouzzi; Jacky Bonaventure; A Mornand; Jacques Loiselet
Overlap between Baller-Gerold and Rothmund-Thomson syndrome.
Clinical dysmorphology 2000;9(4):303-5.
2000: André Mégarbané; Nabiha Salem; E Stephan; Ramzi Ashoush; Didier Lenoir; Valérie Delague; Roland Kassab; Jacques Loiselet; Patrice Bouvagnet
X-linked transposition of the great arteries and incomplete penetrance among males with a nonsense mutation in ZIC3.
European journal of human genetics : EJHG 2000;8(9):704-8.
2000: Valérie Delague; Corinne Bareil; Sylvie Tuffery; Patrice Bouvagnet; Eliane Chouery; S Koussa; T Maisonobe; Jacques Loiselet; André Mégarbané; Mireille Claustres
Mapping of a new locus for autosomal recessive demyelinating Charcot-Marie-Tooth disease to 19q13.1-13.3 in a large consanguineous Lebanese family: exclusion of MAG as a candidate gene.
American journal of human genetics 2000;67(1):236-43.
2000: E Stéphan; Ramzi Ashoush; André Mégarbané; Roland Kassab; Nabiha Salem; Jacques Loiselet; Patrice Bouvagnet
[Autosomal dominant Mendelian midline complex. Secundum atrial septal defect associated with cardiac and facial-thoracic defects. A familial case].
Archives des maladies du coeur et des vaisseaux 2000;93(5):641-7.
2000: Myrna Medlej-Hashim; Mohammed Rawashdeh; Eliane Chouery; Issam Mansour; Valérie Delague; Gérard Lefranc; Roger Naman; Jacques Loiselet; André Mégarbané
Genetic screening of fourteen mutations in Jordanian familial Mediterranean fever patients.
Human mutation 2000;15(4):384.
2000: Valérie Delague; Noëlle Souraty; E Khallouf; Veronique T V Tardy; Eliane Chouery; Georges Halaby; Jacques Loiselet; Yves Morel; André Mégarbané
Mutational analysis in Lebanese patients with congenital adrenal hyperplasia due to a deficit in 21-hydroxylase.
Hormone research 2000;53(2):77-82.
1999: André Mégarbané; G Khalil; Naji Waked; A Rötig; C Caillaud; Jacques Loiselet
Two sibs with myoclonic epilepsy, congenital deafness, macular dystrophy, and psychiatric disorders.
American journal of medical genetics 1999;87(4):289-93.
1999: A Mégarbané; Valérie Delague; N Salem; Jacques Loiselet
Autosomal recessive congenital cerebellar hypoplasia and short stature in a large inbred family.
American journal of medical genetics 1999;87(1):88-90.
1999: Stephen Baghdiguian; M Martin; Isabelle Richard; F Pons; Catherine Astier; Nathalie Bourg; Ron Thomas Hay; Raymond Chemaly; Georges Halaby; Jacques Loiselet; Louise V B Anderson; Adolfo Lopez de Munain; M Fardeau; Paul Mangeat; Jacques Beckmann; Gérard Lefranc
Calpain 3 deficiency is associated with myonuclear apoptosis and profound perturbation of the IkappaB alpha/NF-kappaB pathway in limb-girdle muscular dystrophy type 2A.
Nature medicine 1999;5(5):503-11.
1999: S Yasunaga; M'hamed Grati; Martine Cohen-Salmon; Aziz El-Amraoui; Mirna Mustapha; N Salem; E El-Zir; Jacques Loiselet; Christine Petit
A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness.
Nature genetics 1999;21(4):363-9.
1999: André Mégarbané; E Stephan; Roland Kassab; Ramzi Ashoush; Nabiha Salem; Patrice Bouvagnet; Jacques Loiselet
Autosomal dominant secundum atrial septal defect with various cardiac and noncardiac defects: a new midline disorder.
American journal of medical genetics 1999;83(3):193-200.
1999: Mirna Mustapha; Dominique Weil; Sébastien Chardenoux; S Elias; E El-Zir; Jacques Beckmann; Jacques Loiselet; Christine Petit
An alpha-tectorin gene defect causes a newly identified autosomal recessive form of sensorineural pre-lingual non-syndromic deafness, DFNB21.
Human molecular genetics 1999;8(3):409-12.
1998: E Stephan; R Chedid; Jacques Loiselet; Patrice Bouvagnet
[Clinical and molecular genetics of familial bundle branch block related to chromosome 19].
Archives des maladies du coeur et des vaisseaux 1998;91(12):1465-74.
1998: Mirna Mustapha; Nabiha Salem; Dominique Weil; E El-Zir; Jacques Loiselet; Christine Petit
Identification of a locus on chromosome 7q31, DFNB14, responsible for prelingual sensorineural non-syndromic deafness.
European journal of human genetics : EJHG 1998;6(6):548-51.
1998: Haifa Jabara; R H Buckley; J L Roberts; Gérard Lefranc; Jacques Loiselet; G Khalil; Raif S Geha
Role of JAK3 in CD40-mediated signaling.
Blood 1998;92(7):2435-40.
1998: F Bozzi; Gérard Lefranc; Anna Villa; Raffaele Badolato; R Fabian Schumacher; G Khalil; Jacques Loiselet; S Bresciani; John O'Shea; Paolo Vezzoni; Luigi D Notarangelo; Fabio Candotti
Molecular and biochemical characterization of JAK3 deficiency in a patient with severe combined immunodeficiency over 20 years after bone marrow transplantation: implications for treatment.
British journal of haematology 1998;102(5):1363-6.
1998: M Saouda; A Mansour; Y Bou Moglabey; E El-Zir; Mirna Mustapha; Hassan Chaib; A Nehmé; André Mégarbané; Jacques Loiselet; Christine Petit; Rima Slim
The Usher syndrome in the Lebanese population and further refinement of the USH2A candidate region.
Human genetics 1998;103(2):193-8.
1998: Mirna Mustapha; Sébastien Chardenoux; A Nieder; Nabiha Salem; J Weissenbach; E El-Zir; Jacques Loiselet; Christine Petit
A sensorineural progressive autosomal recessive form of isolated deafness, DFNB13, maps to chromosome 7q34-q36.
European journal of human genetics : EJHG 1998;6(3):245-50.
1998: Marie-Hélène Gannagé-Yared; Issam Khneisser; N Salem; Alain Gouyette; Jacques Loiselet; Georges Halaby; L Massade
[Blood and leukocyte glutathione and glutathione S-transferase: relationship to cholesterolemia in healthy volunteers].
Annales de biologie clinique 1998;56(3):321-7.
1998: Mirna Mustapha; Sami T Azar; YB Moglabey; M Saouda; G Zeitoun; Jacques Loiselet; Rima Slim
Further refinement of Pendred syndrome locus by homozygosity analysis to a 0.8 cM interval flanked by D7S496 and D7S2425.
Journal of medical genetics 1998;35(3):202-4.
1997: Françoise Denoyelle; Dominique Weil; Marion A Maw; SA Wilcox; NJ Lench; DR Allen-Powell; AH Osborn; Hans-Henrik M Dahl; A Middleton; MJ Houseman; Catherine Dodé; Sandrine Marlin; A Boulila-ElGaïed; M'hamed Grati; Hammadi Ayadi; S BenArab; Pierre Bitoun; Geneviève Lina-Granade; Jacqueline Godet; Mirna Mustapha; Jacques Loiselet; E El-Zir; A Aubois; Alain Joannard; E N Garabédian; R J Gardner; J Levilliers; R F Mueller; Christine Petit
Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene.
Human molecular genetics 1997;6(12):2173-7.
1997: Isabelle Richard; L Brenguier; Pervin Dinçer; Carinne Roudaut; B Bady; Jean-Marc Burgunder; Raymond Chemaly; C A Garcia; Georges Halaby; CE Jackson; D M Kurnit; Gérard Lefranc; C Legum; Jacques Loiselet; Luciano Merlini; A Nivelon-Chevallier; E Ollagnon-Roman; G Restagno; Haluk Topaloglu; Jacques Beckmann
Multiple independent molecular etiology for limb-girdle muscular dystrophy type 2A patients from various geographical origins.
American journal of human genetics 1997;60(5):1128-38.
1997: André Mégarbané; Jacques Loiselet
Clinical manifestation of a severe neonatal progeroid syndrome.
Clinical genetics 1997;51(3):200-4.
1996: Hassan Chaib; C Place; Nabiha Salem; Catherine Dodé; Sébastien Chardenoux; Jean Weissenbach; E El-Zir; Jacques Loiselet; Christine Petit
Mapping of DFNB12, a gene for a non-syndromal autosomal recessive deafness, to chromosome 10q21-22.
Human molecular genetics 1996;5(7):1061-4.
1996: H Chaïb; C Place; Nabiha Salem; Sébastien Chardenoux; C Vincent; Jean Weissenbach; E El-Zir; Jacques Loiselet; Christine Petit
A gene responsible for a sensorineural nonsyndromic recessive deafness maps to chromosome 2p22-23.
Human molecular genetics 1996;5(1):155-8.
1995: A de Meeus; E Stephan; S Debrus; M K Jean; Jacques Loiselet; Jean Weissenbach; Jacques Demaille; Patrice Bouvagnet
An isolated cardiac conduction disease maps to chromosome 19q.
Circulation research 1995;77(4):735-40.