Homozygous mutation in ELMO2 may cause Ramon syndrome
Mehawej, C., Hoischen, A., Farah, R.A., Marey, I., David, M., Stora, S., Lachlan, K., Brunner, H.G., Mégarbané, A.
Published in Clinical genetics (01.03.2018)
Published in Clinical genetics (01.03.2018)
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Journal Article
Efficacy and safety of methylphenidate on attention deficit hyperactivity disorder in children with Down syndrome
Roche, M., Mircher, C., Toulas, J., Prioux, E., Conte, M., Ravel, A., Falquero, S., Labidi, A., Stora, S., Durand, S., Mégarbané, A., Cieuta‐Walti, C.
Published in Journal of intellectual disability research (01.08.2021)
Published in Journal of intellectual disability research (01.08.2021)
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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
Published in Clinical genetics (01.11.2012)
Published in Clinical genetics (01.11.2012)
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Journal Article
Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene
Van Maldergem, L, Siitonen, H A, Jalkh, N, Chouery, E, De Roy, M, Delague, V, Muenke, M, Jabs, E W, Cai, J, Wang, L L, Plon, S E, Fourneau, C, Kestilä, M, Gillerot, Y, Mégarbané, A, Verloes, A
Published in Journal of medical genetics (01.02.2006)
Published in Journal of medical genetics (01.02.2006)
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Journal Article
Stüve-Wiedemann syndrome: long-term follow-up and genetic heterogeneity
Jung, C, Dagoneau, N, Baujat, G, Le Merrer, M, David, A, Di Rocco, M, Hamel, B, Mégarbané, A, Superti-Furga, A, Unger, S, Munnich, A, Cormier-Daire, V
Published in Clinical genetics (01.03.2010)
Published in Clinical genetics (01.03.2010)
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Journal Article
DNMT3B mutations and DNA methylation defect define two types of ICF syndrome
Jiang, Y.L., Rigolet, M., Bourc'his, D., Nigon, F., Bokesoy, I., Fryns, J.P., Hultén, M., Jonveaux, P., Maraschio, P., Mégarbané, A., Moncla, A., Viegas-Péquignot, E.
Published in Human mutation (01.01.2005)
Published in Human mutation (01.01.2005)
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Journal Article
A novel locus for autosomal recessive primary torsion dystonia (DYT17) maps to 20p11.22–q13.12
Chouery, E., Kfoury, J., Delague, V., Jalkh, N., Bejjani, P., Serre, J. L., Mégarbané, A.
Published in Neurogenetics (01.10.2008)
Published in Neurogenetics (01.10.2008)
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Journal Article
Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes
Piard, J., Aral, B., Vabres, P., Holder-Espinasse, M., Mégarbané, A., Gauthier, S., Capra, V., Pierquin, G., Callier, P., Baumann, C., Pasquier, L., Baujat, G., Martorell, L., Rodriguez, A., Brady, A. F., Boralevi, F., González-Enseñat, M. A., Rio, M., Bodemer, C., Philip, N., Cordier, M.-P., Goldenberg, A., Demeer, B., Wright, M., Blair, E., Puzenat, E., Parent, P., Sznajer, Y., Francannet, C., DiDonato, N., Boute, O., Barlogis, V., Moldovan, O., Bessis, D., Coubes, C., Tardieu, M., Cormier-Daire, V., Sousa, A. B., Franques, J., Toutain, A., Tajir, M., Elalaoui, S. C., Geneviève, D., Thevenon, J., Courcet, J.-B., Rivière, J.-B., Collet, C., Gigot, N., Faivre, L., Thauvin-Robinet, C.
Published in Clinical genetics (01.03.2015)
Published in Clinical genetics (01.03.2015)
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Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy
Van Maldergem, L, Magré, J, Khallouf, T E, Gedde-Dahl, T, Delépine, M, Trygstad, O, Seemanova, E, Stephenson, T, Albott, C S, Bonnici, F, Panz, V R, Medina, J-L, Bogalho, P, Huet, F, Savasta, S, Verloes, A, Robert, J-J, Loret, H, de Kerdanet, M, Tubiana-Rufi, N, Mégarbané, A, Maassen, J, Polak, M, Lacombe, D, Kahn, C R, Silveira, E L, D’Abronzo, F H, Grigorescu, F, Lathrop, M, Capeau, J, O’Rahilly, S
Published in Journal of medical genetics (01.10.2002)
Published in Journal of medical genetics (01.10.2002)
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Journal Article
Mutation screening in Börjeson-Forssman-Lehmann syndrome: identification of a novel de novo PHF6 mutation in a female patient
Crawford, J, Lower, K M, Hennekam, R C M, Van Esch, H, Mégarbané, A, Lynch, S A, Turner, G, Gécz, J
Published in Journal of medical genetics (01.03.2006)
Published in Journal of medical genetics (01.03.2006)
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Journal Article
A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease
GUILBOT, Angèle, WILLIAMS, Anna, MEGARBANE, André, CLAUSTRES, Mireille, RAVISE, Nicole, VERNY, Christophe, BRICE, Alexis, SHERMAN, Diane L, BROPHY, Peter J, LEGUERN, Eric, DELAGUE, Valérie, BAREIL, Corinne
Published in Human molecular genetics (15.02.2001)
Published in Human molecular genetics (15.02.2001)
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Journal Article
Molecular Study of Three Lebanese and Syrian Patients with Waardenburg Syndrome and Report of Novel Mutations in the EDNRB and MITF Genes
Haddad, N.M., Ente, D., Chouery, E., Jalkh, N., Mehawej, C., Khoueir, Z., Pingault, V., Mégarbané, A.
Published in Molecular syndromology (01.01.2011)
Published in Molecular syndromology (01.01.2011)
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Journal Article
Homozygosity mapping of autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy (CMT4H) to a novel locus on chromosome 12p11.21-q13.11
Sandre-Giovannoli, A De, Delague, V, Hamadouche, T, Chaouch, M, Krahn, M, Boccaccio, I, Maisonobe, T, Chouery, E, Jabbour, R, Atweh, S, Grid, D, Mégarbané, A, Lévy, N
Published in Journal of medical genetics (01.03.2005)
Published in Journal of medical genetics (01.03.2005)
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Journal Article
Mild Campomelic Dysplasia: Report on a Case and Review
Corbani, S., Chouery, E., Eid, B., Jalkh, N., Abou Ghoch, J., Mégarbané, A.
Published in Molecular syndromology (01.01.2011)
Published in Molecular syndromology (01.01.2011)
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Journal Article
Microalbuminuria versus brain natriuretic peptide in cardiac hypertrophy of hypertensive rats
Saliba, Y, Chouery, E, Mégarbané, A, Jabbour, H, Farès, N
Published in Physiological research (01.01.2010)
Published in Physiological research (01.01.2010)
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Journal Article
9 Detection of a novel complex allele c.[869+11C>T;3909C>G] in CFTR gene
Farhat, R, Puissesseau, G, Pasquet, M.-C, Adolphe, C, Mégarbané, A, Kitzis, A, Ladevèze, V
Published in Journal of cystic fibrosis (01.06.2013)
Published in Journal of cystic fibrosis (01.06.2013)
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Journal Article
Molecular analysis of F8 in Lebanese haemophilia A patients: novel mutations and phenotype-genotype correlation
DJAMBAS KHAYAT, C., SALEM, N., CHOUERY, E., CORBANI, S., MOIX, I., NICOLAS, E., MORRIS, M.A., DE MOERLOOSE, P., MÉGARBANÉ, A.
Published in Haemophilia : the official journal of the World Federation of Hemophilia (01.07.2008)
Published in Haemophilia : the official journal of the World Federation of Hemophilia (01.07.2008)
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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, Myrna, Salem, Nabiha, Delague, Valérie, Chouery, Eliane, Ghassibeh, Michella, Rai, Myriam, Loiselet, Jacques, Petit, Christine, Mégarbané, André
Published in Journal of medical genetics (01.10.2001)
Published in Journal of medical genetics (01.10.2001)
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