Actionable Exomic Secondary Findings in 280 Lebanese Participants

door Jalkh, Nadine, Mehawej, Cybel, Chouery, Eliane
Gepubliceerd in Front Genet (2020)

1Novel MEFV transcripts in Familial Mediterranean fever patients and controls

door Medlej-Hashim, Myrna, Nehme, Nancy, Chouery, Eliane, Jalkh, Nadine, Megarbane, André
Gepubliceerd in 2010

Chitosan/hyaluronic acid multilayer films are biocompatible substrate for Wharton’s jelly derived stem cells

door Dennaoui, Hana, Chouery, Eliane, Rammal, Hassan, Abdel-Razzak, Ziad, Harmouch, Chaza
Gepubliceerd in Stem Cell Investig (2018)

FokI vitamin D receptor gene polymorphism and serum 25-hydroxyvitamin D in patients with cardiovascular risk

door Nakhl, Sahar, Sleilaty, Ghassan, Chouery, Eliane, Salem, Nabiha, Chahine, Ramez, Farès, Nassim
Gepubliceerd in Arch Med Sci Atheroscler Dis (2019)

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

door Chebly, Alain, Corbani, Sandra, Abou Ghoch, Joelle, Mehawej, Cybel, Megarbane, André, Chouery, Eliane
Gepubliceerd in BMC Med Genet (2018)

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

door Nicolas, Elsa, Poitelon, Yannick, Chouery, Eliane, Salem, Nabiha, Levy, Nicolas, Mégarbané, André, Delague, Valérie
Gepubliceerd in 2010

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

door El Karak, Fadi, El Rassy, Elie, Tabchi, Samer, Chouery, Eliane, Megarbane, Andre, Kattan, Joseph
Gepubliceerd in Leuk Res Rep (2015)

Genome-wide inbreeding estimation within Lebanese communities using SNP arrays

door Jalkh, Nadine, Sahbatou, Mourad, Chouery, Eliane, Megarbane, André, Leutenegger, Anne-Louise, Serre, Jean-Louis
Gepubliceerd in Eur J Hum Genet (2015)

Genome-wide inbreeding estimation within Lebanese communities using SNP arrays

door Jalkh, Nadine, Sahbatou, Mourad, Chouery, Eliane, Megarbane, André, Leutenegger, Anne-Louise, Serre, Jean-Louis
Gepubliceerd in Eur J Hum Genet (2015)

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

door Haddad, Nour Maya N., Waked, Naji, Bejjani, Riad, Khoueir, Ziad, Chouery, Eliane, Corbani, Sandra, Mégarbané, André
Gepubliceerd in 2012

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

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

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

door Belguith, Hanen, Masmoudi, Saber, Medlej-Hashim, Myrna, Chouery, Eliane, Weil, Dominique, Ayadi, Hammadi, Petit, Christine, Mégarbané, André
Gepubliceerd in 2009

The Lebanese Allele in the PET100 Gene: Report on Two New Families with Cytochrome c Oxidase Deficiency

door Mansour, Hicham, Sabbagh, Sandra, Bizzari, Sami, El-Hayek, Stephany, Chouery, Eliane, Gambarini, Alicia, Gencik, Martin, Mégarbané, André
Gepubliceerd in J Pediatr Genet (2019)

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

door Choucair, Nancy, Mignon-Ravix, Cecile, Cacciagli, Pierre, Abou Ghoch, Joelle, Fawaz, Ali, Mégarbané, André, Villard, Laurent, Chouery, Eliane
Gepubliceerd in Mol Cytogenet (2015)

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

door Adaimy, Lynn , Chouery, Eliane , Mégarbané, Hala , Mroueh, Salman , Delague, Valérie , Nicolas, Elsa , Belguith, Hanen , de Mazancourt, Philippe , Mégarbané, André 
Gepubliceerd in 2007

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...

door Delague, Valérie, Bareil, Corinne, Tuffery, Sylvie, Bouvagnet, Patrice, Chouery, Eliane, Koussa, Salam, Maisonobe, Thierry, Loiselet, Jacques, Mégarbané, André, Claustres, Mireille
Gepubliceerd in 2000

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

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

Molecular profiling of basal cell carcinomas in young patients

door Abi Karam, Marc, Kourie, Hampig Raphael, Jalkh, Nadine, Mehawej, Cybel, Kesrouani, Carole, Haddad, Fady Gh, Feghaly, Iman, Chouery, Eliane, Tomb, Roland
Gepubliceerd in BMC Med Genomics (2021)

Untreated chronic lymphocytic leukemia in Lebanese patients: an observational study using standard karyotyping and FISH

door Rassy, Elie El, Chebly, Alain, Korban, Rima, Semaan, Warde, Bakouny, Ziad, Assi, Tarek, Kourie, Hampig Raphael, Karak, Fadi El, Chouery, Eliane, Kattan, Joseph
Gepubliceerd in Int J Hematol Oncol (2017)

Genome sequencing unveils mutational landscape of the familial Mediterranean fever: Potential implications of IL33/ST2 signalling

door Umar, Meenakshi, Megarbane, Andre, Shan, Jingxuan, Syed, Najeeb, Chouery, Eliane, Aliyev, Elbay, Jithesh, Puthen, Temanni, Ramzi, Mansour, Issam, Chouchane, Lotfi, Ismail Chouchane, Aouatef
Gepubliceerd in J Cell Mol Med (2020)