Zobrazeno 1 - 10
of 41
pro vyhledávání: '"Nabiha Salem"'
Autor:
Melissa Daou, Mirna Souaid, Tony Yammine, Issam Khneisser, Hicham Mansour, Nabiha Salem, Antony Nemr, Johnny Awwad, Adib Moukarzel, Chantal Farra
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 11, Iss 2, Pp n/a-n/a (2023)
Abstract Background Citrullinemia type 1 (CTLN1) is a rare autosomal recessive disease caused by argininosuccinate synthetase (ASS) deficiency. Manifestations vary from the acute neonatal or “classic” form to a milder, late‐onset, or “unconve
Externí odkaz:
https://doaj.org/article/f88d23c7c2c04489b339ace80cf136a8
Autor:
Nadine Jalkh, Sandra Corbani, Zahraa Haidar, Nadine Hamdan, Elias Farah, Joelle Abou Ghoch, Rouba Ghosn, Nabiha Salem, Ali Fawaz, Claudia Djambas Khayat, Mariam Rajab, Chebl Mourani, Adib Moukarzel, Simon Rassi, Bernard Gerbaka, Hicham Mansour, Malek Baassiri, Rawane Dagher, David Breich, André Mégarbané, Jean Pierre Desvignes, Valérie Delague, Cybel Mehawej, Eliane Chouery
Publikováno v:
BMC Medical Genomics, Vol 12, Iss 1, Pp 1-7 (2019)
Abstract Background The past few decades have witnessed a tremendous development in the field of genetics. The implementation of next generation sequencing (NGS) technologies revolutionized the field of molecular biology and made the genetic informat
Externí odkaz:
https://doaj.org/article/05a422e6778046b28f3efa5646c21d80
Publikováno v:
Molecular Biology Reports.
Background Congenital insensitivity to pain (CIP) is a rare autosomal recessive syndrome characterized by lack of pain perception with a wide spectrum of clinical signs such as anosmia and hyposmia. SCN9A gene variants were found to be associated wit
Publikováno v:
Ophthalmic Genetics. 42:744-746
Cataract is a major condition characterized by ocular lens opacification, resulting from alteration in the lens architecture, lens proteins or both. It is responsible for about one-third of infants...
Publikováno v:
Archives of Medical Sciences. Atherosclerotic Diseases
IntroductionThe biological actions of vitamin D are mediated through vitamin D receptor (VDR). Numerous single-nucleotide polymorphisms (SNPs) in the VDR gene have been identified, and some have been associated with cardiovascular disease (CVD) risk
Autor:
Cybel Mehawej, David Breich, Nabiha Salem, Chebl Mourani, Sandra Corbani, André Mégarbané, Hicham Mansour, Elias Farah, Claudia Djambas Khayat, Mariam Rajab, Eliane Chouery, Valérie Delague, Bernard Gerbaka, Nadine Jalkh, Adib A. Moukarzel, Nadine Hamdan, Joelle Abou Ghoch, Jean-Pierre Desvignes, Malek Baassiri, Rawane Dagher, Rouba Ghosn, Zahraa Haidar, Ali Fawaz, Simon Rassi
Publikováno v:
BMC Medical Genomics
BMC Medical Genomics, BioMed Central, 2019, 12 (1), ⟨10.1186/s12920-019-0474-y⟩
BMC Medical Genomics, Vol 12, Iss 1, Pp 1-7 (2019)
BMC Medical Genomics, BioMed Central, 2019, 12 (1), ⟨10.1186/s12920-019-0474-y⟩
BMC Medical Genomics, Vol 12, Iss 1, Pp 1-7 (2019)
International audience; Background:The past few decades have witnessed a tremendous development in the field of genetics. Theimplementation of next generation sequencing (NGS) technologies revolutionized the field of molecular biologyand made the gen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bc530d86972c8c4cfa6ab21ef92db894
https://hal-amu.archives-ouvertes.fr/hal-02048914
https://hal-amu.archives-ouvertes.fr/hal-02048914
Autor:
Hermine Aydénian, Jean-Pierre Rabès, Marie-Hélène Gannagé-Yared, Ghada Beaino, Antoine Sarkis, Mathilde Varret, Georges Halaby, Sandra Corbani, Marianne Abifadel, Selim Jambart, Catherine Boileau, Claudine Junien, Arnold Munnich, Nabiha Salem
Publikováno v:
Human Mutation. 30:E682-E691
Autosomal dominant hypercholesterolemia (ADH), a major risk for coronary heart disease, is associated with mutations in the genes encoding the low-density lipoproteins receptor (LDLR), its ligand apolipoprotein B (APOB) or PCSK9 (Proprotein Convertas
Autor:
Nabiha Salem, Isabelle Moix, C. Djambas Khayat, Michael A. Morris, André Mégarbané, Sandra Corbani, Eliane Chouery, P. De Moerloose, E. Nicolas
Publikováno v:
Haemophilia, Vol. 14, No 4 (2008) pp. 709-16
Haemophilia A (HA) is an X-linked recessive hereditary bleeding disorder affecting one in 5000 men, resulting from mutations in the F8 gene. Our objective was to identify the spectrum of mutations of the F8 gene in Lebanese patients, and to perform g
Autor:
Ali Fawaz, Cécile Mignon-Ravix, Tony Ibrahim, Sandra Corbani, Eliane Chouery, Nancy Choucair, Laurent Villard, André Mégarbané, Nadine Jalkh, Pierre Cacciagli, Sandra Sabbagh, Nabiha Salem, Joelle Abou Ghoch
Publikováno v:
Molecular Cytogenetics
Molecular Cytogenetics, BioMed Central, 2015, 8 (26), ⟨10.1186/s13039-015-0130-y⟩
Molecular Cytogenetics, 2015, 8 (26), ⟨10.1186/s13039-015-0130-y⟩
Molecular Cytogenetics, BioMed Central, 2015, 8 (26), ⟨10.1186/s13039-015-0130-y⟩
Molecular Cytogenetics, 2015, 8 (26), ⟨10.1186/s13039-015-0130-y⟩
Background Chromosomal microarray analysis (CMA) is currently the most widely adopted clinical test for patients with unexplained intellectual disability (ID), developmental delay (DD), and congenital anomalies. Its use has revealed the capacity to d
Autor:
Jean-Louis Serre, Valérie Delague, Gérard Lefranc, Jacques Loiselet, Sandra Corbani, André Mégarbané, Odile Saab, Nabiha Salem, Myrna Medlej-Hashim, Eliane Chouery, Nadine Jalkh
Publikováno v:
European Journal of Medical Genetics. 48:412-420
Familial Mediterranean fever (FMF) is an autosomal recessive disease mostly frequent in Mediterranean populations. Over 50 mutations have been identified in the gene responsible for the disease, MEFV. The present study reports the frequencies of MEFV