Zobrazeno 1 - 10
of 42
pro vyhledávání: '"Amel Haj Khelil"'
Publikováno v:
Bulletin of the National Research Centre, Vol 47, Iss 1, Pp 1-9 (2023)
Abstract Background Caffeine intake has been positively or negatively associated with the risk of chronic disease. Genome-wide association studies identified single-nucleotide polymorphisms (rs2472297 and rs2470893) in Cytochrome P450 1A2 (CYP1A2) ge
Externí odkaz:
https://doaj.org/article/8286b569ffb340d4b804484041b55cd9
Autor:
Rahma Touhami, Hajer Foddha, Eudeline Alix, Afef Jalloul, Soumaya Mougou-Zerelli, Ali Saad, Damien Sanlaville, Amel Haj Khelil
Publikováno v:
Frontiers in Genetics, Vol 13 (2023)
Background: Psychomotor delay, epilepsy and dysmorphic features are clinical signs which are described in multiple syndromes due to chromosomal imbalances or mutations involving key genes implicated in the stages of Early Embryonic Development. In th
Externí odkaz:
https://doaj.org/article/1ff57692a4c2414a9253be9a59dfae02
Autor:
Houria Daimi, Amel Haj Khelil, Ali Neji, Khaldoun Ben Hamda, Sabri Maaoui, Amelia Aranega, Jemni BE. Chibani, Diego Franco
Publikováno v:
Biomedical Journal, Vol 42, Iss 4, Pp 252-260 (2019)
Background: Brugada syndrome (BrS) is a rare inherited cardiac arrhythmia associated with a high risk of sudden cardiac death (SCD) due to ventricular fibrillation (VF). BrS is characterized by coved-type ST-segment elevation in the right precordial
Externí odkaz:
https://doaj.org/article/4f5071c79f7044a8899f9129f5109989
Autor:
Eliane Chouery, Sandra Corbani, Jaleleddine Dahmen, Leila Zouari, Moez Gribaa, Nadia Leban, Jemni Ben Chibani, Gérard Lefranc, Ali Saad, Amel Haj Khelil, Andoni Urtizberea, André Mégarbané
Publikováno v:
Egyptian Journal of Medical Human Genetics, Vol 18, Iss 3, Pp 299-303 (2017)
Progressive pseudorheumatoid dysplasia is a rare autosomal recessive spondyloepiphyseal dysplasia characterized by predominant involvement of articular cartilage with progressive joint stiffness and enlargement in the absence of inflammation. Short s
Externí odkaz:
https://doaj.org/article/3e36a88cf41d4bf480912c91ae5e0c6e
Autor:
Sabri Denden, Amel Haj Khelil, Jalel Knani, Ramzi Lakhdar, Pascale Perrin, Gérard Lefranc, Jemni Ben Chibani
Publikováno v:
Genetics and Molecular Biology, Vol 33, Iss 1, Pp 23-26 (2010)
Alpha-1-antitrypsin (AAT) plays an important role in the pathogenesis of emphysema, the pathological lesion underlying the majority of the manifestations of Chronic Obstructive Pulmonary Disease (COPD). In this study we tested the hypothesis that com
Externí odkaz:
https://doaj.org/article/03a3f800243d460986c7433b8b2deffb
Publikováno v:
Genetics and Molecular Biology, Vol 33, Iss 4, Pp 633-636 (2010)
Alpha1-antitrypsin (AAT) is a highly polymorphic protein with more than 120 variants that are classified as normal (normal protein secretion), deficient (reduced circulating AAT level caused by defective secretion) or null (no protein secretion). Alp
Externí odkaz:
https://doaj.org/article/9a388a9899394cc5884e8010fd001a65
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Autor:
Hajer, Foddha, Hana, Saoud, Saoussen, Chouchene, Abdelhak, Foddha, Nadia, Bouzidi, Ameni, Dhiflaoui, Habib, Gamra, Hassen, Ben abdennebi, Amel, Haj Khelil
Publikováno v:
Molecular Biology Reports; Dec2023, Vol. 50 Issue 12, p10169-10177, 9p
Autor:
Amel Haj Khelil
Publikováno v:
INTERNATIONAL JOURNAL OF HUMAN GENETICS. 20
Autor:
Amel Haj Khelil, Jemni Ben Chibani, Rahma Touhami, Nadia Bouzidi, Habib Gamra, Abdelhak Foddha, Hajer Foddha, Saoussen Chouchene, Salima Ferchichi, Mohamed Faouzi Maatoug, Nadia Leban
Publikováno v:
Advances in clinical and experimental medicine : official organ Wroclaw Medical University. 29(4)
BACKGROUND Coronary artery disease (CAD) and its ultimate consequence - myocardial infarction (MI) - are major causes of sudden cardiac death (SCD). Previous studies have demonstrated the role of genetic polymorphisms in the risk of SCD and ventricul