Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome

by Mégarbané, Hala, Mégarbané, André
Published 2011

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

by Hasan, Somar M., Azmeh, Arwa, Mostafa, Osama, Megarbane, Andre
Published 2016

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

by Haddad, Nour Maya N., Waked, Naji, Bejjani, Riad, Khoueir, Ziad, Chouery, Eliane, Corbani, Sandra, Mégarbané, André
Published 2012

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

by El Karak, Fadi, El Rassy, Elie, Tabchi, Samer, Chouery, Eliane, Megarbane, Andre, Kattan, Joseph
Published 2015

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

by Reddy, Ramesh, Fahiminiya, Somayyeh, El Zir, Elie, Mansour, Ahmad, Megarbane, Andre, Majewski, Jacek, Slim, Rima
Published 2014

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

by Romani, Marta, Mehawej, Cybel, Mazza, Tommaso, Mégarbané, Andre, Valente, Enza Maria
Published 2016

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

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

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

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

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

by Choucair, Nancy, Mignon-Ravix, Cecile, Cacciagli, Pierre, Abou Ghoch, Joelle, Fawaz, Ali, Mégarbané, André, Villard, Laurent, Chouery, Eliane
Published 2015

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

by Farhat, Raëd, Puissesseau, Géraldine, El-Seedy, Ayman, Pasquet, Marie-Claude, Adolphe, Catherine, Corbani, Sandra, Megarbané, André, Kitzis, Alain, Ladeveze, Véronique
Published 2015

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

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

Prevalance of BRCA1 and BRCA2 mutations in familial breast cancer patients in Lebanon

by Jalkh, Nadine, Nassar-Slaba, Jinane, Chouery, Eliane, Salem, Nabiha, Uhrchammer, Nancy, Golmard, Lisa, Stoppa-Lyonnet, Domique, Bignon, Yves-Jean, Mégarbané, André
Published 2012

Germline genes hypomethylation and expression define a molecular signature in peripheral blood of ICF patients: implications for diagnosis and etiology

by Velasco, Guillaume, Walton, Emma L, Sterlin, Delphine, Hédouin, Sabrine, Nitta, Hirohisa, Ito, Yuya, Fouyssac, Fanny, Mégarbané, André, Sasaki, Hiroyuki, Picard, Capucine, Francastel, Claire
Published 2014

A Novel Alpha Cardiac Actin (ACTC1) Mutation Mapping to a Domain in Close Contact with Myosin Heavy Chain Leads to a Variety of Congenital Heart Defects, Arrhythmia and Possibly Mi...

by Augière, Céline, Mégy, Simon, El Malti, Rajae, Boland, Anne, El Zein, Loubna, Verrier, Bernard, Mégarbané, André, Deleuze, Jean-François, Bouvagnet, Patrice
Published 2015

Molecular Signatures of Cardiac Defects in Down Syndrome Lymphoblastoid Cell Lines Suggest Altered Ciliome and Hedgehog Pathways

by Ripoll, Clémentine, Rivals, Isabelle, Ait Yahya-Graison, Emilie, Dauphinot, Luce, Paly, Evelyne, Mircher, Clothilde, Ravel, Aimé, Grattau, Yann, Bléhaut, Henri, Mégarbane, André, Dembour, Guy, de Fréminville, Bénédicte, Touraine, Renaud, Créau, Nicole, Potier, Marie Claude, Delabar, Jean Maurice
Published 2012

The Impairment of MAGMAS Function in Human Is Responsible for a Severe Skeletal Dysplasia

by Mehawej, Cybel, Delahodde, Agnès, Legeai-Mallet, Laurence, Delague, Valérie, Kaci, Nabil, Desvignes, Jean-Pierre, Kibar, Zoha, Capo-Chichi, José-Mario, Chouery, Eliane, Munnich, Arnold, Cormier-Daire, Valérie, Mégarbané, André
Published 2014

Contribution of copy number variants (CNVs) to congenital, unexplained intellectual and developmental disabilities in Lebanese patients

by Choucair, Nancy, Ghoch, Joelle Abou, Corbani, Sandra, Cacciagli, Pierre, Mignon-Ravix, Cecile, Salem, Nabiha, Jalkh, Nadine, El Sabbagh, Sandra, Fawaz, Ali, Ibrahim, Tony, Villard, Laurent, Mégarbané, André, Chouery, Eliane
Published 2015

Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations

by Voigt, Claudia, Mégarbané, André, Neveling, Kornelia, Czeschik, Johanna Christina, Albrecht, Beate, Callewaert, Bert, von Deimling, Florian, Hehr, Andreas, Falkenberg Smeland, Marie, König, Rainer, Kuechler, Alma, Marcelis, Carlo, Puiu, Maria, Reardon, Willie, Riise Stensland, Hilde Monica Frostad, Schweiger, Bernd, Steehouwer, Marloes, Teller, Christopher, Martin, Marcel, Rahmann, Sven, Hehr, Ute, Brunner, Han G, Lüdecke, Hermann-Josef, Wieczorek, Dagmar
Published 2013

Temple-Baraitser Syndrome and Zimmermann-Laband Syndrome: one clinical entity?

by Mégarbané, André, Al-Ali, Rashid, Choucair, Nancy, Lek, Monko, Wang, Ena, Ladjimi, Moncef, Rose, Catherine M., Hobeika, Remy, Macary, Yvette, Temanni, Ramzi, Jithesh, Puthen V., Chouchane, Aouatef, Sastry, Konduru S, Thomas, Remy, Tomei, Sara, Liu, Wei, Marincola, Francesco M., MacArthur, Daniel, Chouchane, Lotfi
Published 2016

Natural disease history and characterisation of SUMF1 molecular defects in ten unrelated patients with multiple sulfatase deficiency

by Sabourdy, Frédérique, Mourey, Lionel, Le Trionnaire, Emmanuelle, Bednarek, Nathalie, Caillaud, Catherine, Chaix, Yves, Delrue, Marie-Ange, Dusser, Anne, Froissart, Roseline, Garnotel, Roselyne, Guffon, Nathalie, Megarbane, André, Ogier de Baulny, Hélène, Pédespan, Jean-Michel, Pichard, Samia, Valayannopoulos, Vassili, Verloes, Alain, Levade, Thierry
Published 2015