Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome

Por Mégarbané, Hala, Mégarbané, André
Publicado em 2011

Coat’s like vasculopathy in leber congenital amaurosis secondary to homozygous mutations in CRB1: a case report and discussion of the management options

Por Hasan, Somar M., Azmeh, Arwa, Mostafa, Osama, Megarbane, Andre
Publicado no BMC Res Notes (2016)

1Novel MEFV transcripts in Familial Mediterranean fever patients and controls

Por Medlej-Hashim, Myrna, Nehme, Nancy, Chouery, Eliane, Jalkh, Nadine, Megarbane, André
Publicado em 2010

“Fork and bracket” syndrome expands the spectrum of SBF1-related sensory motor polyneuropathies

Por Romani, Marta, Mehawej, Cybel, Mazza, Tommaso, Mégarbané, Andre, Valente, Enza Maria
Publicado no Neurol Genet (2016)

A novel VPS13B mutation in two brothers with Cohen syndrome, cutis verticis gyrata and sensorineural deafness

Por Mégarbané, André, Slim, Rima, Nürnberg, Gudrun, Ebermann, Inga, Nürnberg, Peter, Bolz, Hanno Jörn
Publicado em 2009

CAMOS, a nonprogressive, autosomal recessive, congenital cerebellar ataxia, is caused by a mutant zinc-finger protein, ZNF592

Por Nicolas, Elsa, Poitelon, Yannick, Chouery, Eliane, Salem, Nabiha, Levy, Nicolas, Mégarbané, André, Delague, Valérie
Publicado em 2010

Pseudo-Guillain–Barré syndrome masking acute myeloid leukemia relapse: Brief report and review

Por El Karak, Fadi, El Rassy, Elie, Tabchi, Samer, Chouery, Eliane, Megarbane, Andre, Kattan, Joseph
Publicado no Leuk Res Rep (2015)

Genome-wide inbreeding estimation within Lebanese communities using SNP arrays

Por Jalkh, Nadine, Sahbatou, Mourad, Chouery, Eliane, Megarbane, André, Leutenegger, Anne-Louise, Serre, Jean-Louis
Publicado no Eur J Hum Genet (2015)

Genome-wide inbreeding estimation within Lebanese communities using SNP arrays

Por Jalkh, Nadine, Sahbatou, Mourad, Chouery, Eliane, Megarbane, André, Leutenegger, Anne-Louise, Serre, Jean-Louis
Publicado no Eur J Hum Genet (2015)

DNA replication is altered in Immunodeficiency Centromeric instability Facial anomalies (ICF) cells carrying DNMT3B mutations

Por Lana, Erica, Mégarbané, André, Tourrière, Hélène, Sarda, Pierre, Lefranc, Gérard, Claustres, Mireille, De Sario, Albertina
Publicado em 2012

Molecular Genetics of the Usher Syndrome in Lebanon: Identification of 11 Novel Protein Truncating Mutations by Whole Exome Sequencing

Por Reddy, Ramesh, Fahiminiya, Somayyeh, El Zir, Elie, Mansour, Ahmad, Megarbane, Andre, Majewski, Jacek, Slim, Rima
Publicado em 2014

Clinical and molecular findings in three Lebanese families with Bietti crystalline dystrophy: Report on a novel mutation

Por Haddad, Nour Maya N., Waked, Naji, Bejjani, Riad, Khoueir, Ziad, Chouery, Eliane, Corbani, Sandra, Mégarbané, André
Publicado em 2012

Amyloidosis in familial Mediterranean fever patients: correlation with MEFV genotype and SAA1 and MICA polymorphisms effects

Por Medlej-Hashim, Myrna, Delague, Valérie, Chouery, Eliane, Salem, Nabiha, Rawashdeh, Mohammed, Lefranc, Gérard, Loiselet, Jacques, Mégarbané, André
Publicado em 2004

Re-assigning the DFNB33 locus to chromosome 10p11.23–q21.1

Por Belguith, Hanen, Masmoudi, Saber, Medlej-Hashim, Myrna, Chouery, Eliane, Weil, Dominique, Ayadi, Hammadi, Petit, Christine, Mégarbané, André
Publicado em 2009

Heterochromatic Genes Undergo Epigenetic Changes and Escape Silencing in Immunodeficiency, Centromeric Instability, Facial Anomalies (ICF) Syndrome

Por Brun, Marie-Elisabeth, Lana, Erica, Rivals, Isabelle, Lefranc, Gérard, Sarda, Pierre, Claustres, Mireille, Mégarbané, André, De Sario, Albertina
Publicado em 2011

Evidence that homozygous PTPRD gene microdeletion causes trigonocephaly, hearing loss, and intellectual disability

Por Choucair, Nancy, Mignon-Ravix, Cecile, Cacciagli, Pierre, Abou Ghoch, Joelle, Fawaz, Ali, Mégarbané, André, Villard, Laurent, Chouery, Eliane
Publicado no Mol Cytogenet (2015)

Mutation in WNT10A Is Associated with an Autosomal Recessive Ectodermal Dysplasia: The Odonto-onycho-dermal Dysplasia

Por Adaimy, Lynn , Chouery, Eliane , Mégarbané, Hala , Mroueh, Salman , Delague, Valérie , Nicolas, Elsa , Belguith, Hanen , de Mazancourt, Philippe , Mégarbané, André 
Publicado em 2007

Loss of ALDH18A1 function is associated with a cellular lipid droplet phenotype suggesting a link between autosomal recessive cutis laxa type 3A and Warburg Micro syndrome

Por Handley, Mark T, Mégarbané, André, Meynert, Alison M, Brown, Stephen, Freyer, Elisabeth, Taylor, Martin S, Jackson, Ian J, Aligianis, Irene A
Publicado em 2014

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...

Por Delague, Valérie, Bareil, Corinne, Tuffery, Sylvie, Bouvagnet, Patrice, Chouery, Eliane, Koussa, Salam, Maisonobe, Thierry, Loiselet, Jacques, Mégarbané, André, Claustres, Mireille
Publicado em 2000

N1303K (c.3909C>G) Mutation and Splicing: Implication of Its c.[744-33GATT(6); 869+11C>T] Complex Allele in CFTR Exon 7 Aberrant Splicing

Por Farhat, Raëd, Puissesseau, Géraldine, El-Seedy, Ayman, Pasquet, Marie-Claude, Adolphe, Catherine, Corbani, Sandra, Megarbané, André, Kitzis, Alain, Ladeveze, Véronique
Publicado no Biomed Res Int (2015)