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André Mégarbané

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Lebanon

Physiology

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Klaus Dieterich; Brigitte Estournet; Julien Fauré; Pierre-Simon Jouk; Cécile Laroche; Robert Carlier; Pascale Marcorelles; Isabelle Marty; André Mégarbané; Judith Melki; Sandra Mercier; Nicole Monnier; Sylvie Odent; Susana Quijano-Roy; Norma Romero; Daniela Avila Smirnow; Damien Sternberg; Jie Zhou; Joël Lunardi
The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis.
Dorothea Bornholdt; Bakar Bouadjar; Benoit Catteau; Helen Cox; Deepthi De Silva; Judith Fischer; T Prescott Atkinson; Chalukya N Gunasekera; Smaïl Hadj-Rabia; Rudolf Happle; Muriel Holder-Espinasse; Elke Kaminski; Arne König; André Mégarbané; Hala Mégarbané; Ulrike Neidel; Frank Oeffner; Vinzenz Oji; Amy Theos; Heiko Traupe; Anders Vahlquist; Bregje W van Bon; Marie Virtanen; Karl-Heinz Grzeschik
Genotype-phenotype correlations emerging from the identification of missense mutations in MBTPS2.
Eliane Chouery; Sandra Corbani; S El Sabbagh; J Abou Ghoch; N Choucair; André Mégarbané
Report on a patient with a 12q24.31 microdeletion inherited from an insulin-dependent diabetes mellitus father.

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All Publications

2013: Klaus Dieterich; Brigitte Estournet; Julien Fauré; Pierre-Simon Jouk; Cécile Laroche; Robert Carlier; Pascale Marcorelles; Isabelle Marty; André Mégarbané; Judith Melki; Sandra Mercier; Nicole Monnier; Sylvie Odent; Susana Quijano-Roy; Norma Romero; Daniela Avila Smirnow; Damien Sternberg; Jie Zhou; Joël Lunardi
The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis.
Human molecular genetics 2013;22(8):1483-92.
2013: Dorothea Bornholdt; Bakar Bouadjar; Benoit Catteau; Helen Cox; Deepthi De Silva; Judith Fischer; T Prescott Atkinson; Chalukya N Gunasekera; Smaïl Hadj-Rabia; Rudolf Happle; Muriel Holder-Espinasse; Elke Kaminski; Arne König; André Mégarbané; Hala Mégarbané; Ulrike Neidel; Frank Oeffner; Vinzenz Oji; Amy Theos; Heiko Traupe; Anders Vahlquist; Bregje W van Bon; Marie Virtanen; Karl-Heinz Grzeschik
Genotype-phenotype correlations emerging from the identification of missense mutations in MBTPS2.
Human mutation 2013;34(4):587-94.
2013: Eliane Chouery; Sandra Corbani; S El Sabbagh; J Abou Ghoch; N Choucair; André Mégarbané
Report on a patient with a 12q24.31 microdeletion inherited from an insulin-dependent diabetes mellitus father.
Molecular syndromology 2013;4(3):136-42.
2013: André Mégarbané; Alessandra Pangrazio; Sandra Sabbagh; Eliane Chouery; Gérard Lefranc; Joseph Maarawi; Anna Villa; Cristina Sobacchi
Homozygous stop mutation in the SNX10 gene in a consanguineous Iraqi boy with osteopetrosis and corpus callosum hypoplasia.
European journal of medical genetics 2013;56(1):32-5.
2013: Marie-Hélène Gannagé-Yared; Jürgen Klammt; Hala Mégarbané; Roland Pfäffle; Joelle Abou Ghoch; Nancy Choucair; Eliane Chouery; Sandra Corbani; André Mégarbané
Homozygous mutation of the IGF1 receptor gene in a patient with severe pre- and postnatal growth failure and congenital malformations.
European journal of endocrinology / European Federation of Endocrine Societies 2013;168(1):K1-7.
2012: Janet Chou; Ghassan Dbaibo; David Fraulino; Raif S Geha; Soha Ghanem; Silvia Giliani; Rima Hanna-Wakim; Adlette Inati; Jennifer Kane; Yu-Nee Lee; Gérard Lefranc; Iman Mahfouz; André Mégarbané; Luigi D Notarangelo; Irit Tirosh; Michel J Massaad
A novel homozygous mutation in recombination activating gene 2 in 2 relatives with different clinical phenotypes: Omenn syndrome and hyper-IgM syndrome.
The Journal of allergy and clinical immunology 2012;130(6):1414-6.
2012: Erica Lana; Gérard Lefranc; André Mégarbané; Pierre Sarda; Hélène Tourrière; Mireille Claustres; Albertina De Sario
DNA replication is altered in Immunodeficiency Centromeric instability Facial anomalies (ICF) cells carrying DNMT3B mutations.
European journal of human genetics : EJHG 2012;20(10):1044-50.
2012: Paulien Terhal; Edward S Tobias; Annemarie H Van Der Hout; Paula van Dommelen; Andreas Zankl; Marleen E H Simon; Sarah F Smithson; Regina C Betz; Valérie Cormier-Daire; Paul Coucke; Linda Goodwin; Raoul C M Hennekam; Bronwyn Kerr; Esther Kinning; Martine Le Merrer; Melissa Lees; Allan M Lund; Sahar Mansour; Carlo Marcelis; André Mégarbané; Geert R Mortier
Mutation-based growth charts for SEDC and other COL2A1 related dysplasias.
American journal of medical genetics. Part C, Seminars in medical genetics 2012;160C(3):205-16.
2012: André Mégarbané; Cybel Mehawej; Eliane Chouery; Nadine Hanna; Nadine Jalkh; catherine boileau
Marfanoid habitus, inguinal hernia, advanced bone age, and distinctive facial features: a new collagenopathy?
American journal of medical genetics. Part A 2012;158A(5):1185-9.
2012: André Mégarbané
[Interest in partnerships around the Mediterranean basin for rare diseases].
Presse médicale (Paris, France : 1983) 2012;41 Suppl 1():S51-4.
2012: Cybel Mehawej; Geneviève Baujat; Eliane Chouery; Valérie Cormier-Daire; Martine Le Merrer; Diane Maalouf; André Mégarbané
Identification of a novel causative mutation in the ROR2 gene in a Lebanese family with a mild form of recessive Robinow syndrome.
European journal of medical genetics 2012;55(2):103-8.
2012: Nadine Jalkh; Yves-Jean Bignon; Eliane Chouery; Lisa Golmard; Jinane Nassar-Slaba; Nabiha Salem; Domique Stoppa-Lyonnet; Nancy Uhrchammer; André Mégarbané
Prevalance of BRCA1 and BRCA2 mutations in familial breast cancer patients in Lebanon.
Hereditary cancer in clinical practice 2012;10(1):7.
2012: Nour Maya N Haddad; Ziad Khoueir; Riad Bejjani; Eliane Chouery; Sandra Corbani; Naji Waked; André Mégarbané
Clinical and molecular findings in three Lebanese families with Bietti crystalline dystrophy: report on a novel mutation.
Molecular vision 2012;18():1182-8.
2012: Diane Maalouf; Hala Mégarbané; Joanna Nasr; Catherine Badens; Eliane Chouery; Karl-Heinz Grzeschik; Caroline Lacoste; André Mégarbané
A novel mutation in the PORCN gene underlying a case of almost unilateral focal dermal hypoplasia.
Archives of dermatology 2012;148(1):85-8.
2011: Elie Akoury; E El-Zir; Jacek Majewski; Ahmad Mansour; André Mégarbané; Rima Slim
A novel 5-bp deletion in Clarin 1 in a family with Usher syndrome.
Ophthalmic genetics 2011;32(4):245-9.
2011: André Mégarbané; Eliane Chouery; Cécile Mignon-Ravix; Sandra El Sabbagh; Sandra Corbani; Joelle Abou Ghoch; Nadine Jalkh; Cybel Mehawej; Nicolas Lévy; Laurent Villard
Ambiguous genitalia, microcephaly, seizures, bone malformations, and early death: a distinct MCA/MR syndrome.
American journal of medical genetics. Part A 2011;155A(5):1147-51.
2011: Aimé Ravel; Eliane Chouery; Samantha Stora; Nadine Jalkh; Laurent Villard; Samia Temtamy; André Mégarbané
How many entities exist for the spectrum of disorders associated with brachydactyly, syndactyly, short stature, microcephaly, and intellectual disability?
American journal of medical genetics. Part A 2011;155A(4):880-4.
2011: Nigel F Clarke; Svetlana Maugenre; Aurélie Vandebrouck; J Andoni Urtizberea; Tobias Willer; Rachel Peat; Françoise Gray; Céline Bouchet; Hiroshi Manya; Sandrine Vuillaumier-Barrot; Tamao Endo; Eliane Chouery; Kevin P Campbell; André Mégarbané; Pascale Guicheney
Congenital muscular dystrophy type 1D (MDC1D) due to a large intragenic insertion/deletion, involving intron 10 of the LARGE gene.
European journal of human genetics : EJHG 2011;19(4):452-7.
2011: Eliane Chouery; Valérie Delague; Nadine Jalkh; Nabiha Salem; Jessy Kfoury; Diana Rodriguez; Brigitte Chabrol; Odile Boespflug-Tanguy; Nicolas Lévy; Jean-Louis Serre; André Mégarbané
A whole-genome scan in a large family with leukodystrophy and oligodontia reveals linkage to 10q22.
Neurogenetics 2011;12(1):73-8.
2011: André Mégarbané
[Is good genetic counseling possible with good ethical principals?].
Le Journal médical libanais. The Lebanese medical journal 2011;59(1):23-6.
2011: Hala Mégarbané; André Mégarbané
Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome.
Orphanet journal of rare diseases 2011;6():29.
2011: Marie-Elisabeth Brun; Erica Lana; Isabelle Rivals; Gérard Lefranc; Pierre Sarda; Mireille Claustres; André Mégarbané; Albertina De Sario
Heterochromatic genes undergo epigenetic changes and escape silencing in immunodeficiency, centromeric instability, facial anomalies (ICF) syndrome.
PloS one 2011;6(4):e19464.
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.
2010: Eliane Chouery; Michael D Coble; Katharine M Strouss; Jessica L Saunier; Nadine Jalkh; Myrna Medlej-Hashim; Fouad Ayoub; André Mégarbané
Population genetic data for 17 STR markers from Lebanon.
Legal medicine (Tokyo, Japan) 2010;12(6):324-6.
2010: Romain Debret; Valérie Cenizo; Géraldine Aimond; Valérie André; Martine Devillers; Isabelle Rouvet; André Mégarbané; Odile Damour; Pascal Sommer
Epigenetic silencing of lysyl oxidase-like-1 through DNA hypermethylation in an autosomal recessive cutis laxa case.
The Journal of investigative dermatology 2010;130(11):2594-601.
2010: Elsa Nicolas; Yannick Poitelon; Eliane Chouery; Nabiha Salem; Nicolas Levy; André Mégarbané; Valérie Delague
CAMOS, a nonprogressive, autosomal recessive, congenital cerebellar ataxia, is caused by a mutant zinc-finger protein, ZNF592.
European journal of human genetics : EJHG 2010;18(10):1107-13.
2010: André Mégarbané; Nathalie Dorison; Diana Rodriguez; Jean TAMRAZ
Multiple cranial nerve neuropathies, microcephaly, neurological degeneration, and "fork and bracket sign" in the MRI: a distinct syndrome.
American journal of medical genetics. Part A 2010;152A(9):2297-300.
2010: Tayfun Ozçelik; Moien Kanaan; Karen B Avraham; Drakoulis Yannoukakos; André Mégarbané; Ghazi O Tadmouri; Lefkos Middleton; Giovanni Romeo; Mary-Claire King; Ephrat Levy-Lahad
Collaborative genomics for human health and cooperation in the Mediterranean region.
Nature genetics 2010;42(8):641-5.
2010: Hui Liu; Loubna El Zein; Martin Kruse; Romain Guinamard; Alf Beckmann; André Bozio; Andersen Jerome; André Mégarbané; Iris Ohmert; Gérard Blaysat; Elisabeth Villain; Olaf Pongs; Patrice Bouvagnet
Gain-of-function mutations in TRPM4 cause autosomal dominant isolated cardiac conduction disease.
Circulation. Cardiovascular genetics 2010;3(4):374-85.
2010: C Jung; Nathalie Dagoneau; G Baujat; Martine Le Merrer; A David; M Di Rocco; B Hamel; André Mégarbané; andrea superti-furga; S Unger; Arnold Munnich; Valérie Cormier-Daire
Stüve-Wiedemann syndrome: long-term follow-up and genetic heterogeneity.
Clinical genetics 2010;77(3):266-72.
2010: Eliane Chouery; Alessandra Pangrazio; Annalisa Frattini; Anna Villa; Liesbeth Van Wesenbeeck; Elke Piters; Wim Van Hul; Fraser Coxon; Tabitha Schouten; Miep H Helfrich; Gérard Lefranc; André Mégarbané
A new familial sclerosing bone dysplasia.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2010;25(3):676-80.
2009: André Mégarbané; Aimé Ravel; Clotilde Mircher; Franck Sturtz; Yann Grattau; Marie-Odile Rethoré; jean maurice delabar; William C. Mobley
The 50th anniversary of the discovery of trisomy 21: the past, present, and future of research and treatment of Down syndrome.
Genetics in medicine : official journal of the American College of Medical Genetics 2009;11(9):611-6.
2009: Samantha Stora; Martine Conte; Eliane Chouery; Sami Richa; Nadine Jalkh; Anne-Céline Gillart; Anne-Laure de Joannis; André Mégarbané
A 56-year-old female patient with facio-oculo-acoustico-renal syndrome (FOAR) syndrome. Report on the natural history and of a novel mutation.
European journal of medical genetics 2009;52(5):341-3.
2009: André Mégarbané; Rima Slim; Gudrun Nürnberg; Inga Ebermann; Peter Nürnberg; Hanno Jörn Bolz
A novel VPS13B mutation in two brothers with Cohen syndrome, cutis verticis gyrata and sensorineural deafness.
European journal of human genetics : EJHG 2009;17(8):1076-9.
2009: Marie-Reine Haddad; Cécile Mignon-Ravix; Pierre Cacciagli; André Mégarbané; Laurent Villard
Characterization of a de novo balanced translocation in a patient with moderate mental retardation and dysmorphic features.
European journal of medical genetics 2009;52(4):211-7.
2009: Hala Mégarbané; Jobard Florence; Jörn Oliver Sass; Susanne Schwonbeck; Mario Foglio; Rafael de Cid; Susan Cure; Safa Saker; André Mégarbané; Judith Fischer
An autosomal-recessive form of cutis laxa is due to homozygous elastin mutations, and the phenotype may be modified by a heterozygous fibulin 5 polymorphism.
The Journal of investigative dermatology 2009;129(7):1650-5.
2009: Bozena Polok; Pascal Escher; Aude Ambresin; Eliane Chouery; Sylvain Bolay; Isabelle Meunier; Francis Nan; Christian Hamel; Francis L Munier; Bernard Thilo; André Mégarbané; Daniel F Schorderet
Mutations in CNNM4 cause recessive cone-rod dystrophy with amelogenesis imperfecta.
American journal of human genetics 2009;84(2):259-65.
2008: André Mégarbané; L Samaras; Rima Chédid; Eliane Chouery; Dominique Chrétien; Catherine Caillaud; Joelle Abou-Ghoch; Nadine Jalkh
Developmental delay, dysmorphic features, neonatal spontaneous fractures, wrinkled skin, and hepatic failure: a new metabolic syndrome?
American journal of medical genetics. Part A 2008;146A(24):3198-201.
2008: André Mégarbané; Rawane Dagher; Imad Melki
Sib pair with previously unreported skeletal dysplasia.
American journal of medical genetics. Part A 2008;146A(22):2916-9.
2008: Hala Mégarbané; Céline Cluzeau; Christine Bodemer; Sylvie Fraïtag; Myrna Chababi-Atallah; André Mégarbané; Asma Smahi
Unusual presentation of a severe autosomal recessive anhydrotic ectodermal dysplasia with a novel mutation in the EDAR gene.
American journal of medical genetics. Part A 2008;146A(20):2657-62.
2008: Eliane Chouery; J Kfoury; Valérie Delague; Nadine Jalkh; P Bejjani; Jean-Louis Serre; André Mégarbané
A novel locus for autosomal recessive primary torsion dystonia (DYT17) maps to 20p11.22-q13.12.
Neurogenetics 2008;9(4):287-93.
2008: Eliane Chouery; Valérie Delague; Anne Bergougnoux; Salam Koussa; Jean-Louis Serre; André Mégarbané
Mutations in TREM2 lead to pure early-onset dementia without bone cysts.
Human mutation 2008;29(9):E194-204.
2008: André Mégarbané; Eliane Chouery; Ismat Ghanem
A multiplex family with possible metaphyseal Spahr-type dysplasia and exclusion of RMRP and COL10A1 as candidate genes.
American journal of medical genetics. Part A 2008;146A(14):1865-70.
2008: stephanie claus; Judith Fischer; Hala Mégarbané; André Mégarbané; Florence Jobard; Romain Debret; Simone Peyrol; Safa Saker; Martine Devillers; Pascal Sommer; Odile Damour
A p.C217R mutation in fibulin-5 from cutis laxa patients is associated with incomplete extracellular matrix formation in a skin equivalent model.
The Journal of investigative dermatology 2008;128(6):1442-50.
2008: Jörn Oliver Sass; Regina Ensenauer; Wulf Röschinger; Horst Reich; Ulrike Steuerwald; Oliver Schirrmacher; Katharina Engel; Johannes Häberle; Brage S Andresen; André Mégarbané; Willy Lehnert; Johannes Zschocke
2-Methylbutyryl-coenzyme A dehydrogenase deficiency: functional and molecular studies on a defect in isoleucine catabolism.
Molecular genetics and metabolism 2008;93(1):30-5.
2008: Nadine Jalkh; Emmanuelle Génin; Eliane Chouery; Valérie Delague; Myrna Medlej-Hashim; Charles-Antoine Idrac; André Mégarbané; Jean-Louis Serre
Familial Mediterranean Fever in Lebanon: founder effects for different MEFV mutations.
Annals of human genetics 2008;72(Pt 1):41-7.
2007: Joseph Alroy; Rolf Pfannl; Angelo A Ucci; Gérard Lefranc; Annalisa Frattini; André Mégarbané
Electron microscopic findings in skin biopsies from patients with infantile osteopetrosis and neuronal storage disease.
Ultrastructural pathology 2007;31(5):333-8.
2007: Noëlle Souraty; Damien Sanlaville; Rima Chédid; Marc Le Lorc'h; Marie-Laure Maurin; Lola Ghanem; Sabine Maalouf; Michel Vekemans; André Mégarbané
Cytogenetic investigation of a child with a mosaic isochromosome 18q and ring 18q.
European journal of medical genetics 2007;50(5):379-85.
2007: André Mégarbané
Osseous dysplasia with severe short stature, multiple dislocations, and delayed bone age: report on a second Lebanese patient.
American journal of medical genetics. Part A 2007;143A(15):1782-7.
2007: Noëlle Souraty; Peter Noun; Claudia Djambas-Khayat; Eliane Chouery; Alessandra Pangrazio; Anna Villa; Gérard Lefranc; Annalisa Frattini; André Mégarbané
Molecular study of six families originating from the Middle-East and presenting with autosomal recessive osteopetrosis.
European journal of medical genetics 2007;50(3):188-99.
2006: Hélène Dollfus; Jean Muller; Corinne Stoetzel; Virginie Laurier; Dominique Bonneau; André Mégarbané; Olivier Poch; Jean-Louis Mandel
[Bardet-Biedl syndrome: a unique family for a major gene (BBS10)].
Médecine sciences : M/S 2006;22(11):901-4.
2006: Virginie Laurier; Corinne Stoetzel; Jean Muller; Christelle Thibault; Sandra Corbani; Nadine Jalkh; Nabiha Salem; Eliane Chouery; Olivier Poch; Serge Licaire; Jean-Marc Danse; Patrizia Amati-Bonneau; Dominique Bonneau; André Mégarbané; Jean-Louis Mandel; Hélène Dollfus
Pitfalls of homozygosity mapping: an extended consanguineous Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism.
European journal of human genetics : EJHG 2006;14(11):1195-203.
2006: Hanadi Mattit; Muhidin Joma; Salwa Al-Cheikh; Mohammed El-Khateeb; Myrna Medlej-Hashim; Nabiha Salem; Valérie Delague; André Mégarbané
Familial Mediterranean fever in the Syrian population: gene mutation frequencies, carrier rates and phenotype-genotype correlation.
European journal of medical genetics 2006;49(6):481-6.
2006: André Mégarbané; Ismat Ghanem; Naji Waked; Fernand Dagher
A newly recognized autosomal recessive syndrome with short stature and oculo-skeletal involvement.
American journal of medical genetics. Part A 2006;140(14):1491-6.
2006: Ismat Ghanem; André Mégarbané
Aplasia of the pubic bone in conjunction with hip dislocation.
Journal of pediatric orthopedics. Part B 2006;15(4):309; author reply 309-10.
2006: Valérie Delague; Myrna Souaid; Eliane Chouery; Danielle Depetris; Damien Sanlaville; Marie-Geneviève Mattei; André Mégarbané
Screening for subtelomeric rearrangements using automated fluorescent genotyping of microsatellite markers: a Lebanese study.
European journal of medical genetics 2006;49(2):117-26.
2006: Caroline Lefèvre; Bakar Bouadjar; Véronique Ferrand; Gianluca Tadini; André Mégarbané; Mark Lathrop; Jean-François Prud'homme; Judith Fischer
Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3.
Human molecular genetics 2006;15(5):767-76.
2006: Lionel Van Maldergem; H Annika Siitonen; Nadine Jalkh; Eliane Chouery; M De Roy; Valérie Delague; M Muenke; Ethylin Jabs; J Cai; L L Wang; S E Plon; C Fourneau; Marjo Kestilä; Yves Gillerot; André Mégarbané; Alain Verloes
Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene.
Journal of medical genetics 2006;43(2):148-52.
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.
2006: Corinne Stoetzel; Virginie Laurier; Laurence Faivre; André Mégarbané; Fabienne Perrin-Schmitt; Alain Verloes; Dominique Bonneau; Jean-Louis Mandel; Mireille Cossee; Hélène Dollfus
BBS8 is rarely mutated in a cohort of 128 Bardet-Biedl syndrome families.
Journal of human genetics 2006;51(1):81-4.
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.
2005: Valérie Delague; Eliane Chouery; Sandra Corbani; Ismat Ghanem; Suhail Aamar; Judith Fischer; Ephrat Levy-Lahad; J Andoni Urtizberea; André Mégarbané
Molecular study of WISP3 in nine families originating from the Middle-East and presenting with progressive pseudorheumatoid dysplasia: identification of two novel mutations, and description of a founder effect.
American journal of medical genetics. Part A 2005;138A(2):118-26.
2005: Céline Huber; Dora Dias-Santagata; Anna Glaser; James O'Sullivan; Raja Brauner; Kenneth Wu; Xinsong Xu; Kerra Pearce; Rong Wang; Maria Luisa Giovannucci Uzielli; Nathalie Dagoneau; Wassim Chemaitilly; andrea superti-furga; Heloisa Dos Santos; André Mégarbané; Gilles Morin; Gabriele Gillessen-Kaesbach; Raoul Hennekam; Ineke van der Burgt; Graeme C M Black; Peter E Clayton; Andrew Read; Martine Le Merrer; Peter J Scambler; Arnold Munnich; Zhen-Qiang Pan; Robin Winter; Valérie Cormier-Daire
Identification of mutations in CUL7 in 3-M syndrome.
Nature genetics 2005;37(10):1119-24.
2005: Hanen Belguith; S Hajji; N Salem; Ilhem Charfeddine; Imed Lahmar; M B Amor; Karim Ouldim; Eliane Chouery; Nabil Driss; Mohamed Drira; André Mégarbané; Ahmed Rebai; abdelaziz sefiani; Saber Masmoudi; Hammadi Ayadi
Analysis of GJB2 mutation: evidence for a Mediterranean ancestor for the 35delG mutation.
Clinical genetics 2005;68(2):188-9.
2005: Marie-Hélène Gannagé-Yared; Catherine Dodé; Ismat Ghanem; Eliane Chouery; Nadine Jalkh; Jean-Pierre Hardelin; André Mégarbané
Coexistence of Kallmann syndrome and complete androgen insensitivity in the same patient.
European journal of endocrinology / European Federation of Endocrine Societies 2005;152(6):813-7.
2005: Salam Koussa; H Roukoz; Tony Rizk; André Mégarbané
[Megalencephalic leucoencephalopathy with subcortical cysts: a study of a Lebanese family and a review of the literature].
Revue neurologique 2005;161(2):183-91.
2005: André Mégarbané; Eliane Chouery; Simon Rassi; Valérie Delague
A new autosomal recessive oto-facial syndrome with midline malformations.
American journal of medical genetics. Part A 2005;132(4):398-401.
2005: Hala Mégarbané; N Boehm; Eliane Chouery; R Bernard; N Salem; E Halaby; N Levy; André Mégarbané
X-linked reticulate pigmentary layer. Report of a new patient and demonstration of a skewed X-inactivation.
Genetic counseling (Geneva, Switzerland) 2005;16(1):85-9.
2004: Nathalie Dagoneau; Catherine Benoist-Lasselin; Céline Huber; Laurence Faivre; André Mégarbané; Abdulrahman Alswaid; Hélène Dollfus; Yves Alembik; Arnold Munnich; Laurence Legeai-Mallet; Valérie Cormier-Daire
ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome.
American journal of human genetics 2004;75(5):801-6.
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: André Mégarbané; Nancy Melick; Linda Daou
A newly recognized skeletal dysplasia with rhizomelic limbs and retinitis pigmentosa.
American journal of medical genetics. Part A 2004;130A(2):176-80.
2004: André Mégarbané; Ismat Ghanem
A newly recognized chondrodysplasia with multiple dislocations.
American journal of medical genetics. Part A 2004;130A(1):107-9.
2004: Cécile Ged; Hala Mégarbané; Eliane Chouery; Magalie Lalanne; André Mégarbané; Hubert de Verneuil
Congenital erythropoietic porphyria: report of a novel mutation with absence of clinical manifestations in a homozygous mutant sibling.
The Journal of investigative dermatology 2004;123(3):589-91.
2004: Nelly Margarita Macías-Gómez; André Mégarbané; Evelia Leal-Ugarte; Lisa Ximena Rodríguez-Rojas; Patricio Barros-Núñez
Diastrophic dysplasia and atelosteogenesis type II as expression of compound heterozygosis: first report of a Mexican patient and genotype-phenotype correlation.
American journal of medical genetics. Part A 2004;129A(2):190-2.
2004: Hala Mégarbané; May Haddad; Valérie Delague; Julien Renoux; Nelly Boehm; André Mégarbané
Further delineation of the odonto-onycho-dermal dysplasia syndrome.
American journal of medical genetics. Part A 2004;129A(2):193-7.
2004: André Mégarbané; Linda Daou; Hala Mégarbané; Hélène Cave; Eliane Chouery; Alain Verloes
New autosomal recessive syndrome with short stature and facio-auriculo-thoracic malformations.
American journal of medical genetics. Part A 2004;128A(4):414-7.
2004: Elias Traboulsi; Naji Waked; Hala Mégarbané; André Mégarbané
Ocular findings in ichthyosis follicularis-alopecia-photophobia (IFAP) syndrome.
Ophthalmic genetics 2004;25(2):153-6.
2004: André Mégarbané; Pierre Maroteaux; Catherine Caillaud; Martine Le Merrer
Spondyloepimetaphyseal dysplasia of Maroteaux (pseudo-Morquio type II syndrome): report of a new patient and review of the literature.
American journal of medical genetics. Part A 2004;125A(1):61-6.
2004: André Mégarbané; Simon Rassi; Farid Estephan; Edith Kouba-Hreich
Post-natal short stature, short limbs, brachydactyly, facial abnormalities, and delayed bone age: a new syndrome?
American journal of medical genetics. Part A 2004;125A(1):57-60.
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.
2004: Hala Mégarbané; Roland Tomb; Laurence Klein-Tomb; André Mégarbané
[Congenital exfoliative erythroderma].
Annales de dermatologie et de vénéréologie 2004;131(2):211-2.
2004: Hala Mégarbané; Cynthia Zablit; Naji Waked; Gérard Lefranc; Roland Tomb; André Mégarbané
Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome: report of a new family with additional features and review.
American journal of medical genetics. Part A 2004;124A(3):323-7.
2004: Valérie Delague; Gernot Kriegshäuser; Christian Oberkanins; André Mégarbané
Reverse hybridization vs. DNA sequencing in the molecular diagnosis of Familial Mediterranean fever.
Genetic testing 2004;8(1):65-8.
2003: Laurence Faivre; Hélène Dollfus; Stanislas LYONNET; Yves Alembik; André Mégarbané; John R Samples; Robert J Gorlin; Abdulrahman Alswaid; Josué Feingold; Martine Le Merrer; Arnold Munnich; Valérie Cormier-Daire
Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome.
American journal of medical genetics. Part A 2003;123A(2):204-7.
2003: André Mégarbané; Ismat Ghanem; Martine Le Merrer
Spondyloepimetaphyseal dysplasia with multiple dislocations, leptodactylic type: report of a new patient and review of the literature.
American journal of medical genetics. Part A 2003;122A(3):252-6.
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.
2003: Salim Atrouni; Antoine Darazé; Jean TAMRAZ; Antoine Cassia; Catherine Caillaud; André Mégarbané
Leukodystrophy associated with oligodontia in a large inbred family: fortuitous association or new entity?
American journal of medical genetics. Part A 2003;118A(1):76-81.
2003: André Mégarbané
Unknown diagnosis in two male cousins with facial abnormalities, optic atrophy, abnormal EEG, and severe psychomotor retardation.
American journal of medical genetics. Part A 2003;116A(4):381-4.
2003: André Mégarbané; Joseph Haddad; Stanislas LYONNET; Jill Clayton-Smith
Child with overgrowth, pigmentary streaks, polydactyly, and intestinal lymphangiectasia: macrocephaly-cutis marmorata telangiectatica congenita syndrome or new disorder?
American journal of medical genetics. Part A 2003;116A(2):184-7.
2003: André Mégarbané; Salim M Adib
Congenital malformations and genetic diseases in comic books.
Genetic counseling (Geneva, Switzerland) 2003;14(1):3-14.
2002: André Mégarbané; Ismat Ghanem
Tibial/femoral hypoplasia with "hook" pelvis: a potentially unique dysostosis.
American journal of medical genetics 2002;112(4):394-6.
2002: Christel Thauvin-Robinet; Vincent El Ghouzzi; Wassim Chemaitilly; Nathalie Dagoneau; Odile Boute; Géraldine Viot; André Mégarbané; abdelaziz sefiani; Arnold Munnich; Martine Le Merrer; Valérie Cormier-Daire
Homozygosity mapping of a Dyggve-Melchior-Clausen syndrome gene to chromosome 18q21.1.
Journal of medical genetics 2002;39(10):714-7.
2002: André Mégarbané; Pierre VABRES; Sami Slaba; Asma Smahi; Bart Loeys; Nabil Okais
Linear and whorled nevoid hypermelanosis with bilateral giant cerebral aneurysms.
American journal of medical genetics 2002;112(1):95-8.
2002: André Mégarbané; Ismat Ghanem; Tony Rizk; Pascal Jabbour
Prenatal growth deficiency with narrowness of the cervical spine, subglottic stenosis, hip dislocation, and severe delayed bone ossification: a new skeletal dysplasia.
American journal of medical genetics 2002;112(1):70-4.
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: André Mégarbané; Joseph H Hersh; Eliane Chouery; Michel Fabre
Craniosynostosis, telecanthus, scalp hair abnormalities, and sensorineural deafness in two sibs.
American journal of medical genetics 2002;109(4):323-7.
2002: André Mégarbané; Agnès Sanders; Eliane Chouery; Valérie Delague; Myrna Medlej-Hashim; Paul-Henri Torbey
An unknown autoinflammatory syndrome associated with short stature and dysmorphic features in a young boy.
The Journal of rheumatology 2002;29(5):1084-7.
2002: Laurence Faivre; André Mégarbané; Abdulrahman Alswaid; Louise Zylberberg; Noura Aldohayan; Belinda Campos-Xavier; Delphine Bacq; Laurence Legeai-Mallet; Jacky Bonaventure; Arnold Munnich; Valérie Cormier-Daire
Homozygosity mapping of a Weill-Marchesani syndrome locus to chromosome 19p13.3-p13.2.
Human genetics 2002;110(4):366-70.
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: André Mégarbané; Bassem A Bejjani; Lisa Shaffer; Sélim Jambart; Noëlle Souraty; Catherine D Kashork; Martine Le Merrer
Craniofacial anomalies, deafness, brachydactyly, short stature, and moderate mental retardation due to a cryptic 6p;11q translocation.
American journal of medical genetics 2002;108(1):69-74.
2002: André Mégarbané; Ismat Ghanem; S Romana; P Gosset; C Caillaud
Congenital contractures, short stature, abnormal face, microcephaly, scoliosis, hip dislocation, and severe psychomotor retardation in two unrelated girls. a new MCA/MR syndrome?
Genetic counseling (Geneva, Switzerland) 2002;13(2):123-31.
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: André Mégarbané; Philippe Gosset; Noëlle Souraty; Jean-Michel Lapierre; R Korban; Laila Zahed; L Samaras; Michel Vekemans; Marguerite Prieur
Chromosome 10p11.2-p12.2 duplication: report of a patient and review of the literature.
American journal of medical genetics 2001;104(3):204-8.
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: André Mégarbané; V Cormier-Daire
Severe mental retardation, short stature, facial anomalies, joint laxity, and dislocations in two sisters: previously undescribed MCA/MR syndrome.
American journal of medical genetics 2001;102(2):153-6.
2001: André Mégarbané; Valérie Delague; M M Ruchoux; E Rizkallah; Claude-Alain Maurage; Louis Viollet; N Rouaix-Emery; Andoni Urtizberea
New autosomal recessive cerebellar ataxia disorder in a large inbred Lebanese family.
American journal of medical genetics 2001;101(2):135-41.
2001: André Mégarbané
A new familial syndrome with facial abnormalities, abnormal EEG, and mental retardation.
Clinical dysmorphology 2001;10(2):129-33.
2001: André Mégarbané; Marc Le Lorc'h; Hatem Elghezal; G Joly; Noëlle Souraty; L Samaras; Marguerite Prieur; Michel Vekemans; Catherine Turleau; Serge Romana
Pure partial 7p trisomy including the TWIST, HOXA, and GLI3 genes.
Journal of medical genetics 2001;38(3):178-82.
2001: Angele Guilbot; A Williams; Nicole Ravisé; Christophe Verny; Alexis Brice; Diane L Sherman; Peter J Brophy; Eric LeGuern; Valérie Delague; Corinne Bareil; André Mégarbané; Mireille Claustres
A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease.
Human molecular genetics 2001;10(4):415-21.
2001: André Mégarbané; N Waked; Eliane Chouery; YB Moglabey; N Saliba; Etienne Mornet; Jean-Louis Serre; Rima Slim
Microcephaly, cutis verticis gyrata of the scalp, retinitis pigmentosa, cataracts, sensorineural deafness, and mental retardation in two brothers.
American journal of medical genetics 2001;98(3):244-9.
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: André Mégarbané; I Desguerres; E Rizkallah; Valérie Delague; R Nabbout; Annie Barois; Andoni Urtizberea
Brown-Vialetto-Van Laere syndrome in a large inbred Lebanese family: confirmation of autosomal recessive inheritance?
American journal of medical genetics 2000;92(2):117-21.
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: André Mégarbané; R Choueiri; J Bleik; M Mezzina; C Caillaud
Microcephaly, microphthalmia, congenital cataract, optic atrophy, short stature, hypotonia, severe psychomotor retardation, and cerebral malformations: a second family with micro syndrome or a new syndrome?
Journal of medical genetics 1999;36(8):637-40.
1999: André Mégarbané; F A Haddad; S Haddad-Zebouni; M Achram; G Eich; Martine Le Merrer; andrea superti-furga
Homozygosity for a novel DTDST mutation in a child with a 'broad bone-platyspondylic' variant of diastrophic dysplasia.
Clinical genetics 1999;56(1):71-6.
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: André Mégarbané; S Haddad-Zebouni; R Nabbout; A H Khoury; Elias Traboulsi
Microcephaly, colobomatous microphthalmia, short stature, and severe psychomotor retardation in two male cousins: a new MCA/MR syndrome?
American journal of medical genetics 1999;83(2):82-7.
1999: André Mégarbané; C B Farah; R Nabbout
Unknown syndrome in two male sibs with hypotonia, ptosis, hand malformations, 2/3 toes syndactyly, and mental retardation.
Genetic counseling (Geneva, Switzerland) 1999;10(2):183-8.
1998: André Mégarbané; Khalil Kharrat; G Kreichati
Four sibs with dislocated elbows, bowed tibiae, scoliosis, deafness, cataract, microcephaly, and mental retardation: a new MCA/MR syndrome.
Journal of medical genetics 1998;35(9):755-8.
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: André Mégarbané; S Haddad; L Berjaoui
Prenatal ultrasonography: clinical and radiological findings in a boy with fibrochondrogenesis.
American journal of perinatology 1998;15(7):403-7.
1998: André Mégarbané; N Hawat; P Chedid; J Bleik; A L Délézoïde
Branchio-oculo-facial syndrome associated with a white forelock.
Clinical dysmorphology 1998;7(3):221-3.
1998: André Mégarbané; Z Noujeim; M Fabre; V M Der Kaloustian
New form of hidrotic ectodermal dysplasia in a Lebanese family.
American journal of medical genetics 1998;75(2):196-9.
1998: André Mégarbané; Noëlle Souraty; Jean TAMRAZ
Ophthalmo-acromelic syndrome (Waardenburg) with split hand and polydactyly.
Genetic counseling (Geneva, Switzerland) 1998;9(3):195-9.
1997: André Mégarbané; Noëlle Souraty; Marguerite Prieur; D Theophile; P Chédid; J Augé; Michel Vekemans
Interstitial duplication of the short arm of chromosome 2: report of a new case and review.
Journal of medical genetics 1997;34(9):783-6.
1997: André Mégarbané; Martine Le Merrer; K el Kallab
Ptosis, down-slanting palpebral fissures, hypertelorism, seizures and mental retardation: a possible new MCA/MR syndrome.
Clinical dysmorphology 1997;6(3):239-44.
1997: André Mégarbané; Jacques Loiselet
Clinical manifestation of a severe neonatal progeroid syndrome.
Clinical genetics 1997;51(3):200-4.
1997: André Mégarbané; C Chammas
Severe mental retardation with marfanoid habitus in a young Lebanese male. A diagnostic challenge.
Genetic counseling (Geneva, Switzerland) 1997;8(3):195-200.
1997: André Mégarbané; M Abi Moussa
Brachytelephalangy with mental retardation, peculiar face and short stature in two sibs. A new MCA/MR syndrome?
Genetic counseling (Geneva, Switzerland) 1997;8(2):127-32.
1997: André Mégarbané; Noëlle Souraty; D Theophile; Michel Vekemans; L Samaras; Z Ghorayeb
Trisomy for the distal segment of the short arm of chromosome 17 in a boy with mild mental retardation and some dysmorphic features.
Annales de génétique 1997;40(1):55-9.