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

by Sandra Sabbagh, Stephanie Antoun, André Mégarbané
Published 2020-01-01

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

by Yosra Bejaoui, Sara Alresheq, Sophie Durand, Marie Vilaire-Meunier, Louise Maillebouis, Ayman Al Haj Zen, André Mégarbané, André Mégarbané, Nady El Hajj, Nady El Hajj
Published 2023-07-01

<i>PCDH19</i> in Males: Are Hemizygous Variants Linked to Autism?

by Eliane Chouery, Jana Makhlouf, Wassim Daoud Khatoun, Cybel Mehawej, Andre Megarbane
Published 2023-02-01

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

by Sarah Abi Raad, Vanda Yazbeck Karam, Eliane Chouery, Cybel Mehawej, Andre Megarbane
Published 2023-07-01

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

by Sayeeda Hana, Deepak karthik, Jingxuan Shan, Stephany El Hayek, Lotfi Chouchane, André Megarbane
Published 2020-01-01

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

by Alain Chebly, Sandra Corbani, Joelle Abou Ghoch, Cybel Mehawej, André Megarbane, Eliane Chouery
Published 2018-09-01

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

by Fadi El Karak, Elie El Rassy, Samer Tabchi, Eliane Chouery, Andre Megarbane, Joseph Kattan
Published 2015-01-01

Molecular genetics of the Usher syndrome in Lebanon: identification of 11 novel protein truncating mutations by whole exome sequencing.

by Ramesh Reddy, Somayyeh Fahiminiya, Elie El Zir, Ahmad Mansour, Andre Megarbane, Jacek Majewski, Rima Slim
Published 2014-01-01

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

by Sami Bizzari, Pratibha Nair, Asha Deepthi, Sayeeda Hana, Mahmoud Taleb Al-Ali, André Megarbané, Stephany El-Hayek
Published 2021-09-01

Heterochromatic genes undergo epigenetic changes and escape silencing in immunodeficiency, centromeric instability, facial anomalies (ICF) syndrome.

by Marie-Elisabeth Brun, Erica Lana, Isabelle Rivals, Gérard Lefranc, Pierre Sarda, Mireille Claustres, André Mégarbané, Albertina De Sario
Published 2011-01-01

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

by Fouad Alghamdi, Asmaa Al-Tawari, Hadil Alrohaif, Walaa Alshuaibi, Walaa Alshuaibi, Hicham Mansour, Annemieke Aartsma-Rus, André Mégarbané
Published 2021-09-01

ADGRG1-related polymicrogyria syndrome: report on a large consanguineous family with a novel variant and review

by Dalida El Khatib, Moussa Hojeij, Sandra Sabbagh, Cybel Mehawej, Eliane Chouery, Seung Woo Ryu, JiHye Kim, Andre Mégarbané
Published 2024-04-01

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

by Eliane Chouery, Rim Karam, Yves Najm Mrad, Cybel Mehawej, Nahia Dib El Jalbout, Jamal Bleik, Daniel Mahfoud, Andre Megarbane
Published 2023-02-01

Dravet Syndrome in Lebanon: First Report on Cases with SCN1A Mutations

by Saada Alame, Eliane El-Houwayek, Caroline Nava, Sandra Sabbagh, Ali Fawaz, Anne-Celine Gillart, Dana Hasbini, Christel Depienne, André Mégarbané
Published 2019-01-01

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 Céline Augière, Simon Mégy, Rajae El Malti, Anne Boland, Loubna El Zein, Bernard Verrier, André Mégarbané, Jean-François Deleuze, Patrice Bouvagnet
Published 2015-01-01

Epigenetic age acceleration in surviving versus deceased COVID-19 patients with acute respiratory distress syndrome following hospitalization

by Yosra Bejaoui, Fathima Humaira Amanullah, Mohamad Saad, Sara Taleb, Martina Bradic, Andre Megarbane, Ali Ait Hssain, Charbel Abi Khalil, Nady El Hajj
Published 2023-11-01

Altered action potential waveform and shorter axonal initial segment in hiPSC-derived motor neurons with mutations in VRK1

by Rémi Bos, Khalil Rihan, Patrice Quintana, Lara El-Bazzal, Nathalie Bernard-Marissal, Nathalie Da Silva, Rosette Jabbour, André Mégarbané, Marc Bartoli, Frédéric Brocard, Valérie Delague
Published 2022-03-01

Transcriptomic study in women with trisomy 21 identifies a possible role of the GTPases of the immunity-associated proteins (GIMAP) in the protection of breast cancer

by André Mégarbané, David Piquemal, Anne-Sophie Rebillat, Samantha Stora, Fabien Pierrat, Roman Bruno, Florian Noguier, Clotilde Mircher, Aimé Ravel, Marie Vilaire-Meunier, Sophie Durand, Gérard Lefranc
Published 2020-06-01

Progressive pseudorheumatoid dysplasia in North and West Africa: Clinical description in ten patients with mutations of WISP3

by Eliane Chouery, Sandra Corbani, Jaleleddine Dahmen, Leila Zouari, Moez Gribaa, Nadia Leban, Jemni Ben Chibani, Gérard Lefranc, Ali Saad, Amel Haj Khelil, Andoni Urtizberea, André Mégarbané
Published 2017-07-01

The impairment of MAGMAS function in human is responsible for a severe skeletal dysplasia.

by Cybel Mehawej, Agnès Delahodde, Laurence Legeai-Mallet, Valérie Delague, Nabil Kaci, Jean-Pierre Desvignes, Zoha Kibar, José-Mario Capo-Chichi, Eliane Chouery, Arnold Munnich, Valérie Cormier-Daire, André Mégarbané
Published 2014-05-01