Zobrazeno 1 - 10
of 33
pro vyhledávání: '"Mirna, Souaid"'
Autor:
Hormos Salimi Dafsari, Joshua G. Pemberton, Elizabeth A. Ferrer, Tony Yammine, Chantal Farra, Mohammad Hasan Mohammadi, Ehsan Ghayoor Karimiani, Narges Hashemi, Mirna Souaid, Sandra Sabbagh, Paria Najarzadeh Torbati, Suliman Khan, Emmanuel Roze, Andres Moreno‐De‐Luca, Aida M. Bertoli‐Avella, Henry Houlden, Tamas Balla, Reza Maroofian
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 9, Iss 9, Pp 1345-1358 (2022)
Abstract Objective Intracellular signaling networks rely on proper membrane organization to control an array of cellular processes such as metabolism, proliferation, apoptosis, and macroautophagy in eukaryotic cells and organisms. Phosphatidylinosito
Externí odkaz:
https://doaj.org/article/e661a9bb4241478abb777acab28ee5c0
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
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:
Clinical Dysmorphology.
Autor:
Chantal Farra, Johnny Awwad, Lama Hamadeh, Pierre Khoueiry, Zeina Halawi, Nadine Yazbeck, Rose Daher, Mirna Souaid, Layal Hamdar, Tony Yammine, Khalid Yunis
Publikováno v:
Annals of Human Genetics. 86:80-86
Cystic fibrosis is the most common life-limiting autosomal recessive disease in western countries with an incidence of 1:2500 in United States and 1:1000 in some European countries. Similar incidences were noted for the Middle East with variations fr
Autor:
Chantal Farra, Johnny Awwad, Abeer J. Hani, Layal Hamdar, Lina Abdouni, Leyla Akoury Dirani, Mirna Souaid
Publikováno v:
J Pediatr Genet
17p13.3 microduplication syndrome has been associated with a clinical spectrum of phenotypes, and depending on the genes involved in the microduplication, it is categorized into two classes (Class I and Class II). We herein, describe two patients dia
Publikováno v:
Hemoglobin. 45(6)
β-Thalassemia (β-thal) is highly prevalent among the Mediterranean populations. In Lebanon, the carrier rate of the disease is estimated to be around 2.0-3.0%. In this retrospective study, we determined the spectrum of β-thal mutations in a total
Publikováno v:
Molecular Biology Reports. 47:169-177
BACs-on-Beads (BoBs™) assay is a rapid aneuploidy test (RAT) that detects numerical chromosomal aneuploidies and multiple microdeletion/microduplication syndromes. This study was conducted to appraise the usefulness of the BoB™ assay as a complem
Publikováno v:
Prenatal Diagnosis. 28:828-832
Alkuraya FS, 2001, PRENATAL DIAG, V21, P448, DOI 10.1002-pd.76; Alsulaiman A, 2006, PRENATAL DIAG, V26, P1010, DOI 10.1002-pd.1544; Chamayou S, 1998, HUM REPROD, V13, P1936, DOI 10.1093-humrep-13.7.1936; Chan V, 1997, CHINESE MED J-PEKING, V110, P490
Autor:
Adlette, Inati, Hussein A, Abbas, Jad, Al-Danaf, Mirna, Souaid, Mario, Kahale, Suzan, Koussa, Therese, Abou Nasr, Lance, Davis, Hong-Yuan, Luo, David H K, Chui
Publikováno v:
Hemoglobin. 37(2)
A 7-year old boy presented with a history of recurrent respiratory infections and hypochromic microcytic anemia. Iron profiles were normal thereby prompting genetic analysis of α- and β-globin mutations. The first mutation in a BRE motif of the β-