Mutations of POLR3A Encoding a Catalytic Subunit of RNA Polymerase Pol III Cause a Recessive Hypomyelinating Leukodystrophy
Bernard, Geneviève, Chouery, Eliane, Putorti, Maria Lisa, Tétreault, Martine, Takanohashi, Asako, Carosso, Giovanni, Clément, Isabelle, Boespflug-Tanguy, Odile, Rodriguez, Diana, Delague, Valérie, Abou Ghoch, Joelle, Jalkh, Nadine, Dorboz, Imen, Fribourg, Sebastien, Teichmann, Martin, Megarbane, André, Schiffmann, Raphael, Vanderver, Adeline, Brais, Bernard
Published in American journal of human genetics (09.09.2011)
Published in American journal of human genetics (09.09.2011)
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A Homozygous Splicing Mutation in PDE2A in a Family With Atypical Rett Syndrome
Haidar, Zahraa, Jalkh, Nadine, Corbani, Sandra, Abou‐Ghoch, Joelle, Fawaz, Ali, Mehawej, Cybel, Chouery, Eliane
Published in Movement disorders (01.05.2020)
Published in Movement disorders (01.05.2020)
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A homozygous stop gain mutation in BOD1 gene in a Lebanese patient with syndromic intellectual disability
Hamdan, Nadine, Mehawej, Cybel, Sebaaly, Ghada, Jalkh, Nadine, Corbani, Sandra, Abou‐Ghoch, Joelle, De Backer, O., Chouery, Eliane
Published in Clinical genetics (01.09.2020)
Published in Clinical genetics (01.09.2020)
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Ambiguous genitalia, microcephaly, seizures, bone malformations, and early death: A distinct MCA/MR syndrome
Mégarbané, André, Chouery, Eliane, Mignon‐Ravix, Cécile, El Sabbagh, Sandra, Corbani, Sandra, Ghoch, Joelle Abou, Jalkh, Nadine, Mehawej, Cybel, Lévy, Nicolas, Villard, Laurent
Published in American journal of medical genetics. Part A (01.05.2011)
Published in American journal of medical genetics. Part A (01.05.2011)
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An Evaluation of the Stemness, Paracrine, and Tumorigenic Characteristics of Highly Expanded, Minimally Passaged Adipose-Derived Stem Cells
El Atat, Oula, Antonios, Diane, Hilal, George, Hokayem, Nabil, Abou-Ghoch, Joelle, Hashim, Hussein, Serhal, Rim, Hebbo, Clara, Moussa, Mayssam, Alaaeddine, Nada
Published in PloS one (15.09.2016)
Published in PloS one (15.09.2016)
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The added value of WES reanalysis in the field of genetic diagnosis: lessons learned from 200 exomes in the Lebanese population
Jalkh, Nadine, Corbani, Sandra, Haidar, Zahraa, Hamdan, Nadine, Farah, Elias, Abou Ghoch, Joelle, Ghosn, Rouba, Salem, Nabiha, Fawaz, Ali, Djambas Khayat, Claudia, Rajab, Mariam, Mourani, Chebl, Moukarzel, Adib, Rassi, Simon, Gerbaka, Bernard, Mansour, Hicham, Baassiri, Malek, Dagher, Rawane, Breich, David, Mégarbané, André, Desvignes, Jean Pierre, Delague, Valérie, Mehawej, Cybel, Chouery, Eliane
Published in BMC medical genomics (21.01.2019)
Published in BMC medical genomics (21.01.2019)
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Homozygous mutation of the IGF1 receptor gene in a patient with severe pre- and postnatal growth failure and congenital malformations
Gannagé-Yared, Marie-Hélène, Klammt, Jürgen, Chouery, Eliane, Corbani, Sandra, Mégarbané, Hala, Abou Ghoch, Joelle, Choucair, Nancy, Pfäffle, Roland, Mégarbané, André
Published in European journal of endocrinology (01.01.2013)
Published in European journal of endocrinology (01.01.2013)
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RAC1 expression and role in IL-1β production and oxidative stress generation in familial Mediterranean fever (FMF) patients
Ibrahim, José-Noel, Jounblat, Rania, Jalkh, Nadine, Abou Ghoch, Joelle, Al Hageh, Cynthia, Chouery, Eliane, Mégarbané, André, Lecron, Jean-Claude, Medlej-Hashim, Myrna
Published in European cytokine network (01.12.2018)
Published in European cytokine network (01.12.2018)
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Mutations of POLR3A Encoding a Catalytic Subunit of RNA Polymerase Pol III Cause a Recessive Hypomyelinating Leukodystrophy p415
Bernard, Geneviève, Chouery, Eliane, Putorti, Maria Lisa, Tétreault, Martine, Takanohashi, Asako, Carosso, Giovanni, Clément, Isabelle, Boespflug-Tanguy, Odile, Rodriguez, Diana, Delague, Valérie, Abou Ghoch, Joelle, Jalkh, Nadine, Dorboz, Imen, Fribourg, Sebastien, Teichmann, Martin, Megarbane, André, Schiffmann, Raphael, Vanderver, Adeline, Brais, Bernard
Published in American journal of human genetics (02.11.2012)
Published in American journal of human genetics (02.11.2012)
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Contribution of copy number variants (CNVs) to congenital, unexplained intellectual and developmental disabilities in Lebanese patients
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 in Molecular cytogenetics (09.04.2015)
Published in Molecular cytogenetics (09.04.2015)
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Developmental delay, dysmorphic features, neonatal spontaneous fractures, wrinkled skin, and hepatic failure: A new metabolic syndrome?
Mégarbané, André, Samaras, Leila, Chédid, Rima, Chouery, Eliane, Chrétien, Dominique, Caillaud, Catherine, Abou‐Ghoch, Joelle, Jalkh, Nadine
Published in American journal of medical genetics. Part A (15.12.2008)
Published in American journal of medical genetics. Part A (15.12.2008)
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SMOC1 Is Essential for Ocular and Limb Development in Humans and Mice
Okada, Ippei, Hamanoue, Haruka, Terada, Koji, Tohma, Takaya, Megarbane, Andre, Chouery, Eliane, Abou-Ghoch, Joelle, Jalkh, Nadine, Cogulu, Ozgur, Ozkinay, Ferda, Horie, Kyoji, Takeda, Junji, Furuichi, Tatsuya, Ikegawa, Shiro, Nishiyama, Kiyomi, Miyatake, Satoko, Nishimura, Akira, Mizuguchi, Takeshi, Niikawa, Norio, Hirahara, Fumiki, Kaname, Tadashi, Yoshiura, Koh-ichiro, Tsurusaki, Yoshinori, Doi, Hiroshi, Miyake, Noriko, Furukawa, Takahisa, Matsumoto, Naomichi, Saitsu, Hirotomo
Published in American journal of human genetics (07.01.2011)
Published in American journal of human genetics (07.01.2011)
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Ex vivo PBMC cytokine profile in familial Mediterranean fever patients: Involvement of IL-1β, IL-1α and Th17-associated cytokines and decrease of Th1 and Th2 cytokines
Ibrahim, José-Noel, Jounblat, Rania, Delwail, Adriana, Abou-Ghoch, Joelle, Salem, Nabiha, Chouery, Eliane, Megarbane, André, Medlej-Hashim, Myrna, Lecron, Jean-Claude
Published in Cytokine (Philadelphia, Pa.) (01.10.2014)
Published in Cytokine (Philadelphia, Pa.) (01.10.2014)
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Evidence that homozygous PTPRD gene microdeletion causes trigonocephaly, hearing loss, and intellectual disability
Choucair, Nancy, Mignon-Ravix, Cecile, Cacciagli, Pierre, Abou Ghoch, Joelle, Fawaz, Ali, Mégarbané, André, Villard, Laurent, Chouery, Eliane
Published in Molecular cytogenetics (16.06.2015)
Published in Molecular cytogenetics (16.06.2015)
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Evidence that homozygous PTPRD gene microdeletion causes trigonocephaly, hearing loss, and intellectual disability
Choucair, Nancy, Mignon-Ravix, Cecile, Cacciagli, Pierre, Abou Ghoch, Joelle, Fawaz, Ali, Mégarbané, André, Villard, Laurent, Chouery, Eliane
Published in Molecular cytogenetics (01.01.2015)
Published in Molecular cytogenetics (01.01.2015)
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Ambiguous genitalia, microcephaly, seizures, bone malformations, and early death: A distinct MCA/MR syndrome
Mégarbané, André, Chouery, Eliane, Mignon-Ravix, Cécile, El Sabbagh, Sandra, Corbani, Sandra, Ghoch, Joelle Abou, Jalkh, Nadine, Mehawej, Cybel, Lévy, Nicolas, Villard, Laurent
Published in American Journal of Medical Genetics Part A (01.05.2011)
Published in American Journal of Medical Genetics Part A (01.05.2011)
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Developmental delay, dysmorphic features, neonatal spontaneous fractures, wrinkled skin, and hepatic failure: A new metabolic syndrome?
Mégarbané, André, Samaras, Leila, Chédid, Rima, Chouery, Eliane, Chrétien, Dominique, Caillaud, Catherine, Abou-Ghoch, Joelle, Jalkh, Nadine
Published in American Journal of Medical Genetics Part A (15.12.2008)
Published in American Journal of Medical Genetics Part A (15.12.2008)
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