Zobrazeno 1 - 10
of 28
pro vyhledávání: '"Abdelbasset Amara"'
Autor:
Ebtihag O Alenzi, Waseem Fatima, Abdelbasset Amara, Mohd Imran, Syed Sajid Hussain Shah, Amal Ahmed Elbilgahy, Manal S Fawzy, Lobna M Abu-Negm, Md Ali Mujtaba, Ingrid Jacinto-Caspillo, Awdah M Al-Hazimi
Publikováno v:
Journal of Multidisciplinary Healthcare. 16:1047-1056
Autor:
Abdelbasset Amara, Ilhem Ben Charfeddine, Houda Ghédir, Ons Mamaï, Saloua Jemni-Yacoub, Larbi Chaieb, Ali Saad, Molka Chadli-Chaieb, Moez Gribaa
Publikováno v:
Iranian Journal of Public Health, Vol 44, Iss 3 (2015)
Background: HNF4A-p.I463Vvariant, reported previously in two distinct families suspected of MODY-1, is assessed in this report to determine whether it is a mutation or a polymorphism (frequency >1%). Methods: 200 Tunisian healthy people were screene
Externí odkaz:
https://doaj.org/article/90d3fc4e8d3848d3aaf8489fcb1ed9d9
Publikováno v:
Iranian Journal of Public Health, Vol 43, Iss 7 (2014)
Externí odkaz:
https://doaj.org/article/c3d913b0bf914a5c9843e44773f801cc
Autor:
Isabelle Creveaux, Abdelbasset Amara, Leila Ben Fatma, Ali Saad, Sarah Langlais, Frédéric Libert, Moez Gribaa, Jean-Baptiste Woillard, Imen Chatti
Publikováno v:
Therapies. 71:507-513
Summary Background Genetic causes for inter-individual variability response to opioids are clinical difficulties for treatment efficiency. The aim of the present study was to investigate the possible association of opioid treatment outcome with singl
Autor:
W. Manoubi, Emna Kerkeni, S. Bouaziz, Abdelbasset Amara, Habib Besbes, N. Ghedira, M. Bizid, S. Boubaker, Sana Sfar, Moez Gribaa, Kamel Monastiri
Publikováno v:
Europe PubMed Central
Objective The present study is aimed at performing the molecular characterization of a Tunisian family with piebaldism. Methods As the proband and her mother showed a severe phenotype, we first chose to screen exons 10, 11, 12, 13, 16, 17 and 18 of t
Autor:
Najla Soyah, Abdelbasset Amara, Faïza Zbidi, Ilhem Charfeddine, Abdelkarim Ayedi, Ahlem M'sakni, Saoussen Abroug, Jihene Bouguila, Hechmi Ben Hamouda, Adnène Mlika, Khalid Hlel, Taheni Ben Lazreg, Ali Saad, N. Zouari, Anouar Chaieb, Lamia Boughamoura, Moez Gribaa
Publikováno v:
Hemoglobin. 39:251-255
The β hemoglobinopathies [β-thalassemia (β-thal) and structural hemoglobin (Hb) variants such as Hb S (HBB: c.20A T) and Hb E (HBB: c.79G A)] are among the most common inherited diseases worldwide. In Tunisia, due to the high prevalence of consang
Autor:
Kristen Zukosky, Manfred Boehm, Andrew B. Singleton, Guibin Chen, Fatoumata N'Go Yaro, Sungyoung Auh, Jonathan H. Nofziger, Mahamadou Traoré, Ke-lian Chen, Rick M. Fairhurst, Alice B. Schindler, Ali Saad, Guida Landouré, Modibo Sangare, Kenneth H. Fischbeck, Barrington G. Burnett, Katherine G. Meilleur, Brant C. Hendrickson, Hee‐Suk Lee, Katherine V. Bricceno, Evgenia Pak, Thomas Scholl, Nouhoum Bocoum, Koumba Bagayogo, Michael P. Fay, Mahamadou Diakite, Abdelbasset Amara, George G. Harmison, Youssoufa Maiga, Hammadoun Ali Sango, Fatoumata Daou, Amalia Dutra, Aldiouma Guindo, Christopher Grunseich, Yaya Ibrahim Coulibaly, Moez Gribaa
Publikováno v:
Annals of Neurology
Objective Spinal muscular atrophy (SMA) is one of the most common severe hereditary diseases of infancy and early childhood in North America, Europe, and Asia. SMA is usually caused by deletions of the survival motor neuron 1 (SMN1) gene. A closely r
Autor:
Paul-Martin Holterhus, Ilhem Charfeddine, Ali Saad, Ons Mamaï, Felix G. Riepe, Abdelbasset Amara, Moez Gribaa, Alexandra Kulle, Fathi Amri, Amira Mili, Najoua Kahloul, Labiba Adala
Publikováno v:
General and Comparative Endocrinology. 175:514-518
Steroid 11β hydroxylase deficiency (11β-OHD) (OMIM # 202010) is the second most common form of congenital adrenal hyperplasia (CAH), accounting for 5-8% of all cases. It is an autosomal recessive enzyme defect impairing the biosynthesis of cortisol
Autor:
T Ben Lazreg, Ali Saad, Abdelbasset Amara, Labiba Adala, Khalifa Limem, I. Ben Charfeddine, Ons Mamaï, Amira Mili, J. Bouguila, Moez Gribaa
Publikováno v:
Clinical Genetics. 82:534-539
Glycogen storage disease type III (GSD III) is an autosomal recessive disorder characterized by excessive accumulation of abnormal glycogen in the liver and muscles and caused by deficiency in the glycogen debranching enzyme, the amylo-1,6-glucosidas
Autor:
Narjes Ben Rayana, Ahlem M'sakni, L. Knani, Ilhem Charfeddine, Taheni Ben Lazreg, Ali Saad, Ons Mamaï, Fafani Ben Hadj Hamida, Amira Mili, Moez Gribaa, Abdelbasset Amara
Publikováno v:
Annales de biologie clinique. 73(4)
Choroideremia is a rare X-linked recessive, hereditary retinal pigment epithelial dystrophy, characterized by night blindness and progressive constriction of the visual fields leading to blindness in young adulthood. In this study, we reported three