Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome

Tekijä Mégarbané, Hala, Mégarbané, André
Julkaistu 2011

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

Tekijä Sabbagh, Sandra, Antoun, Stephanie, Mégarbané, André
Julkaisussa Case Rep Med (2020)

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

Tekijä Hasan, Somar M., Azmeh, Arwa, Mostafa, Osama, Megarbane, Andre
Julkaisussa BMC Res Notes (2016)

1Novel MEFV transcripts in Familial Mediterranean fever patients and controls

Tekijä Medlej-Hashim, Myrna, Nehme, Nancy, Chouery, Eliane, Jalkh, Nadine, Megarbane, André
Julkaistu 2010

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

Tekijä Romani, Marta, Mehawej, Cybel, Mazza, Tommaso, Mégarbané, Andre, Valente, Enza Maria
Julkaisussa Neurol Genet (2016)

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

Tekijä Mégarbané, André, Slim, Rima, Nürnberg, Gudrun, Ebermann, Inga, Nürnberg, Peter, Bolz, Hanno Jörn
Julkaistu 2009

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

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

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

Tekijä Hana, Sayeeda, karthik, Deepak, Shan, Jingxuan, El Hayek, Stephany, Chouchane, Lotfi, Megarbane, André
Julkaisussa Case Rep Med (2020)

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

Tekijä Nicolas, Elsa, Poitelon, Yannick, Chouery, Eliane, Salem, Nabiha, Levy, Nicolas, Mégarbané, André, Delague, Valérie
Julkaistu 2010

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

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

Genome-wide inbreeding estimation within Lebanese communities using SNP arrays

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

Genome-wide inbreeding estimation within Lebanese communities using SNP arrays

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

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

Tekijä Lana, Erica, Mégarbané, André, Tourrière, Hélène, Sarda, Pierre, Lefranc, Gérard, Claustres, Mireille, De Sario, Albertina
Julkaistu 2012

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

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

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

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

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

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

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

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

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

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

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

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

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

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