Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome

por Mégarbané, Hala, Mégarbané, André
Publicado 2011

CNTNAP1 Mutations and Their Clinical Presentations: New Case Report and Systematic Review

por Sabbagh, Sandra, Antoun, Stephanie, Mégarbané, André
Publicado 2020

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 2016

PCDH19 in Males: Are Hemizygous Variants Linked to Autism?

por Chouery, Eliane, Makhlouf, Jana, Daoud Khatoun, Wassim, Mehawej, Cybel, Megarbane, Andre
Publicado 2023

1Novel MEFV transcripts in Familial Mediterranean fever patients and controls

por Medlej-Hashim, Myrna, Nehme, Nancy, Chouery, Eliane, Jalkh, Nadine, Megarbane, André
Publicado 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 2016

CHAMP1-Related Disorder: Sharing 20 Years of thorough Clinical Follow-Up and Review of the Literature

por Abi Raad, Sarah, Yazbeck Karam, Vanda, Chouery, Eliane, Mehawej, Cybel, Megarbane, Andre
Publicado 2023

First molecular study in Lebanese patients with Cockayne syndrome and report of a novel mutation in ERCC8 gene

por Chebly, Alain, Corbani, Sandra, Abou Ghoch, Joelle, Mehawej, Cybel, Megarbane, André, Chouery, Eliane
Publicado 2018

A Report on a Family with TMTC3-Related Syndrome and Review

por Hana, Sayeeda, karthik, Deepak, Shan, Jingxuan, El Hayek, Stephany, Chouchane, Lotfi, Megarbane, André
Publicado 2020

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 2015

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 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 2012

Case Report: The Genetic Diagnosis of Duchenne Muscular Dystrophy in the Middle East

por Alghamdi, Fouad, Al-Tawari, Asmaa, Alrohaif, Hadil, Alshuaibi, Walaa, Mansour, Hicham, Aartsma-Rus, Annemieke, Mégarbané, André
Publicado 2021

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 2004

Catalogue for Transmission Genetics in Arabs (CTGA) Database: Analysing Lebanese Data on Genetic Disorders

por Bizzari, Sami, Nair, Pratibha, Deepthi, Asha, Hana, Sayeeda, Al-Ali, Mahmoud Taleb, Megarbané, André, El-Hayek, Stephany
Publicado 2021

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 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 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

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

Spondyloocular Syndrome: A Report of an Additional Family and Phenotypic Spectrum Delineation

por Chouery, Eliane, Karam, Rim, Mrad, Yves Najm, Mehawej, Cybel, Dib El Jalbout, Nahia, Bleik, Jamal, Mahfoud, Daniel, Megarbane, Andre
Publicado 2023

DNA methylation profiling in Trisomy 21 females with and without breast cancer

por Bejaoui, Yosra, Alresheq, Sara, Durand, Sophie, Vilaire-Meunier, Marie, Maillebouis, Louise, Zen, Ayman Al Haj, Mégarbané, André, Hajj, Nady El
Publicado 2023