Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations
Passemard, S, Titomanlio, L, Elmaleh, M, Afenjar, A, Alessandri, J-L, Andria, G, de Villemeur, T Billette, Boespflug-Tanguy, O, Burglen, L, Del Giudice, E, Guimiot, F, Hyon, C, Isidor, B, Mégarbané, A, Moog, U, Odent, S, Hernandez, K, Pouvreau, N, Scala, I, Schaer, M, Gressens, P, Gerard, B, Verloes, Alain
Published in Neurology (22.09.2009)
Published in Neurology (22.09.2009)
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Cost-benefit analysis: newborn screening for inborn errors of metabolism in Lebanon
Khneisser, I, Adib, S, Assaad, S, Megarbane, A, Karam, P
Published in Journal of medical screening (01.12.2015)
Published in Journal of medical screening (01.12.2015)
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A gain-of-function TBX20 mutation causes congenital atrial septal defects, patent foramen ovale and cardiac valve defects
Posch, Maximilian G, Gramlich, Michael, Sunde, Margaret, Schmitt, Katharina R, Lee, Stella H Y, Richter, Silke, Kersten, Andrea, Perrot, Andreas, Panek, Anna N, Al Khatib, Iman H, Nemer, Georges, Mégarbané, André, Dietz, Rainer, Stiller, Brigitte, Berger, Felix, Harvey, Richard P, Özcelik, Cemil
Published in Journal of medical genetics (01.04.2010)
Published in Journal of medical genetics (01.04.2010)
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Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease
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
Published in Human genetics (01.05.2010)
Published in Human genetics (01.05.2010)
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Recessive osteogenesis imperfecta caused by LEPRE1 mutations: clinical documentation and identification of the splice form responsible for prolyl 3-hydroxylation
Willaert, A, Malfait, F, Symoens, S, Gevaert, K, Kayserili, H, Megarbane, A, Mortier, G, Leroy, J G, Coucke, P J, De Paepe, A
Published in Journal of medical genetics (01.04.2009)
Published in Journal of medical genetics (01.04.2009)
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PML nuclear bodies are highly organised DNA-protein structures with a function in heterochromatin remodelling at the G2 phase
Luciani, J.J, Depetris, D, Usson, Y, Metzler-Guillemain, C, Mignon-Ravix, C, Mitchell, M.J, Megarbane, A, Sarda, P, Sirma, H, Moncla, A, Feunteun, J, Mattei, M.-G
Published in Journal of cell science (15.06.2006)
Published in Journal of cell science (15.06.2006)
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Mutations in OSTM1 (Grey Lethal) Define a Particularly Severe Form of Autosomal Recessive Osteopetrosis With Neural Involvement
Pangrazio, Alessandra, Poliani, Pietro Luigi, Megarbane, André, Lefranc, Gérard, Lanino, Edoardo, Di Rocco, Maja, Rucci, Francesca, Lucchini, Franco, Ravanini, Maria, Facchetti, Fabio, Abinun, Mario, Vezzoni, Paolo, Villa, Anna, Frattini, Annalisa
Published in Journal of bone and mineral research (01.07.2006)
Published in Journal of bone and mineral research (01.07.2006)
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Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia
Allali, Slimane, Le Goff, Carine, Pressac–Diebold, Isabelle, Pfennig, Gwendoline, Mahaut, Clémentine, Dagoneau, Nathalie, Alanay, Yasemin, Brady, Angela F, Crow, Yanick J, Devriendt, Koen, Drouin-Garraud, Valérie, Flori, Elisabeth, Geneviève, David, Hennekam, Raoul C, Hurst, Jane, Krakow, Deborah, Le Merrer, Martine, Lichtenbelt, Klaske D, Lynch, Sally A, Lyonnet, Stanislas, MacDermot, Kay, Mansour, Sahar, Megarbané, André, Santos, Heloisa G, Splitt, Miranda, Superti-Furga, Andrea, Unger, Sheila, Williams, Denise, Munnich, Arnold, Cormier-Daire, Valérie
Published in Journal of medical genetics (01.06.2011)
Published in Journal of medical genetics (01.06.2011)
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Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability
Callier, P, Aral, B, Hanna, N, Lambert, S, Dindy, H, Ragon, C, Payet, M, Collod-Beroud, G, Carmignac, V, Delrue, MA, Goizet, C, Philip, N, Busa, T, Dulac, Y, Missotte, I, Sznajer, Y, Toutain, A, Francannet, C, Megarbane, A, Julia, S, Edouard, T, Sarda, P, Amiel, J, Lyonnet, S, Cormier-Daire, V, Gilbert, B, Jacquette, A, Heron, D, Collignon, P, Lacombe, D, Morice-Picard, F, Jouk, PS, Cusin, V, Willems, M, Sarrazin, E, Amarof, K, Coubes, C, Addor, MC, Journel, H, Colin, E, Khau Van Kien, P, Baumann, C, Leheup, B, Martin- Coignard, D, Doco-Fenzy, M, Goldenberg, A, Plessis, G, Thevenon, J, Pasquier, L, Odent, S, Vabres, P, Huet, F, Marle, N, Mosca- Boidron, AL, Mugneret, F, Gauthier, S, Binquet, C, Thauvin-Robinet, C, Jondeau, G, Boileau, C, Faivre, L
Published in Clinical genetics (01.12.2013)
Published in Clinical genetics (01.12.2013)
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Molecular screening of MECP2 gene in a cohort of Lebanese patients suspected with Rett syndrome: report on a mild case with a novel indel mutation
Corbani, S., Chouery, E., Fayyad, J., Fawaz, A., El Tourjuman, O., Badens, C., Lacoste, C., Delague, V., Megarbane, A.
Published in Journal of intellectual disability research (01.04.2012)
Published in Journal of intellectual disability research (01.04.2012)
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Ocular pathology in congenital heart disease
MANSOUR, A. M, BITAR, F. F, TRABOULSI, E. I, KASSAK, K. M, OBEID, M. Y, MEGARBANE, A, SALTI, H. I
Published in Eye (London) (01.01.2005)
Published in Eye (London) (01.01.2005)
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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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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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Population Structure in the Mediterranean Basin: A Y Chromosome Perspective
Capelli, C., Redhead, N., Romano, V., Calì, F., Lefranc, G., Delague, V., Megarbane, A., Felice, A. E., Pascali, V. L., Neophytou, P. I., Poulli, Z., Novelletto, A., Malaspina, P., Terrenato, L., Berebbi, A., Fellous, M., Thomas, M. G., Goldstein, D. B.
Published in Annals of human genetics (01.03.2006)
Published in Annals of human genetics (01.03.2006)
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412 Combination of Genomic Technologies and Consanguinity in Order to Identify Pathogenic Variants in Recessive Disorders
Makrythanasis, P, Nelis, M, Santoni, FA, Guipponi, M, Béna, F, Vanier, A, Duriaux-Sail, G, Gimelli, S, Stathaki, E, Falconnet, E, Temtamy, S, Megarbane, A, Aglan, M, Zaki, M, Fokstuen, S, Bottani, A, Masri, A, Psoni, S, Kitsiou, S, Frissyra, H, Kanavakis, E, All-Allawi, N, Sefiani, A, Al-Hait, S, Elalaoui, S, Jalkh, N, Al-Gazali, L, Al-Jasmi, F, Bouhamed, H Chaabouni, Hamamy, H, Antonarakis, SE
Published in Archives of disease in childhood (01.10.2012)
Published in Archives of disease in childhood (01.10.2012)
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A new familial sclerosing bone dysplasia
Chouery, Eliane, Pangrazio, Alessandra, Frattini, Annalisa, Villa, Anna, Van Wesenbeeck, Liesbeth, Piters, Elke, Van Hul, Wim, Coxon, Fraser P, Schouten, Tabitha, Helfrich, Miep, Lefranc, Gérard, Mégarbané, André
Published in Journal of bone and mineral research (01.03.2010)
Published in Journal of bone and mineral research (01.03.2010)
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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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