Four sibs with dislocated elbows, bowed tibiae, scoliosis, deafness, cataract, microcephaly, and mental retardation: a new MCA/MR syndrome.

por Mégarbané, A, Kharrat, K, Kreichati, G
Publicado 1998

Microcephaly, microphthalmia, congenital cataract, optic atrophy, short stature, hypotonia, severe psychomotor retardation, and cerebral malformations: a second family with micro s...

por Megarbane, A, Choueiri, R, Bleik, J, Mezzina, M, Caillaud, C
Publicado 1999

Mild Campomelic Dysplasia: Report on a Case and Review

por Corbani, S., Chouery, E., Eid, B., Jalkh, N., Abou Ghoch, J., Mégarbané, A.
Publicado 2011

Report on a Patient with a 12q24.31 Microdeletion Inherited from an Insulin-Dependent Diabetes Mellitus Father

por Chouery, E., Choucair, N., Abou Ghoch, J., El Sabbagh, S., Corbani, S., Mégarbané, A.
Publicado 2013

Interstitial duplication of the short arm of chromosome 2: report of a new case and review.

por Mégarbané, A, Souraty, N, Prieur, M, Theophile, D, Chédid, P, Augé, J, Vekemans, M
Publicado 1997

Molecular Study of Three Lebanese and Syrian Patients with Waardenburg Syndrome and Report of Novel Mutations in the EDNRB and MITF Genes

por Haddad, N.M., Ente, D., Chouery, E., Jalkh, N., Mehawej, C., Khoueir, Z., Pingault, V., Mégarbané, A.
Publicado 2011

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

por Mustapha, M., Salem, N., Delague, V., Chouery, E., Ghassibeh, M., Rai, M., Loiselet, J., Petit, C., Megarbane, A.
Publicado 2001

Phenotypic and genetic exploration of severe demyelinating and secondary axonal neuropathies resulting from GDAP1 nonsense and splicing mutations

por De Sandre-Giovann..., A, Chaouch, M, Boccaccio, I, Bernard, R, Delague, V, Grid, D, Vallat, J, Levy, N, Megarbane, A
Publicado 2003

Exclusion of chromosome 9 helps to identify mild variants of acromesomelic dysplasia Maroteaux type

por Faivre, L., Le Merrer, M., Megarbane, A., Gilbert, B., Mortier, G., Cusin, V., Munnich, A., Maroteaux, P., Cormier-Daire, V.
Publicado 2000

Mutation screening in Börjeson‐Forssman‐Lehmann syndrome: identification of a novel de novo PHF6 mutation in a female patient

por Crawford, J, Lower, K M, Hennekam, R C M, Van Esch, H, Mégarbané, A, Lynch, S A, Turner, G, Gécz, J
Publicado 2006

PW01-023 – Ex vivo PBMC cytokine profile in FMF patients

por Ibrahim, JN, Jounblat, R, Delwail, A, Abou-Ghoch, J, Salem, N, Chouery, E, Megarbane, A, Lecron, J-C, Medlej-Hashim, M
Publicado 2013

Pure partial 7p trisomy including the TWIST, HOXA, and GLI3 genes

por MEGARBANE, A, LE LORC'H, M, ELGHEZAL, H, JOLY, G, GOSSET, P, SOURATY, N, SAMARAS, L, PRIEUR, M, VEKEMANS, M, TURLEAU, C, ROMANA, S
Publicado 2001

Homozygosity mapping of autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy (CMT4H) to a novel locus on chromosome 12p11.21-q13.11

por Sandre-Giovannoli, A, Delague, V, Hamadouche, T, Chaouch, M, Krahn, M, Boccaccio, I, Maisonobe, T, Chouery, E, Jabbour, R, Atweh, S, Grid, D, Megarbane, A, Levy, N
Publicado 2005

Homozygosity mapping of a Dyggve-Melchior-Clausen syndrome gene to chromosome 18q21.1

por Thauvin-Robinet, C, El Ghouzzi, V, Chemaitilly, W, Dagoneau, N, Boute, O, Viot, G, Megarbane, A, Sefiani, A, Munnich, A, Le Merrer, M, Cormier-Daire, V
Publicado 2002

Revisiting the craniosynostosis‐radial ray hypoplasia association: Baller‐Gerold syndrome caused by mutations in the RECQL4 gene

por 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
Publicado 2006

Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy

por Van Maldergem, L, Magre, J, Khallouf, T, Gedde-Dahl, T, Delepine, M, Trygstad, O, Seemanova, E, Stephenson, T, Albott, C, Bonnici, F, Panz, V, Medina, J, Bogalho, P, Huet, F, Savasta, S, Verloes, A, Robert, J, Loret, H, de Kerdanet, M, Tubiana-Rufi, N, Megarbane, A, Maassen, J, Polak, M, Lacombe, D, Kahn, C, Silveira, E, D'Abronzo, F, Grigorescu, F, Lathrop, M, Capeau, J, O'Rahilly, S
Publicado 2002

Identification of 28 novel mutations in the Bardet–Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease

por Muller, Jean, Stoetzel, C., Vincent, M. C., Leitch, C. C., Laurier, V., Danse, J. M., Hellé, S., Marion, V., Bennouna-Greene, V., Vicaire, S., Megarbane, A., Kaplan, J., Drouin-Garraud, V., Hamdani, M., Sigaudy, S., Francannet, C., Roume, J., Bitoun, P., Goldenberg, A., Philip, N., Odent, S., Green, J., Cossée, M., Davis, E. E., Katsanis, N., Bonneau, D., Verloes, A., Poch, O., Mandel, J. L., Dollfus, H.
Publicado 2010