Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Maria Mansouri"'
Autor:
Kenza Dafir, Fatima Zahrae Bouzid, Maria Mansouri, Hassan Akallakh, Imane Ait Sab, Mohammed Bouskraoui, Nisrine Aboussair
Publikováno v:
Journal of Medical Sciences and Health, Vol 9, Iss 3, Pp 324-330 (2023)
Pycnodysostosis is a rare bone dysplasia with an incidence of 1 in 100,000 cases. It is a genetic disease (from the Greek pycnos = dense, dys = trouble and osteon = bone) also called osteochondrodysplasia, first described in 1962 by Maroteaux and Lam
Externí odkaz:
https://doaj.org/article/598981ffa4a149f59df392ca55209750
Publikováno v:
Indian Journal of Dermatology, Vol 68, Iss 1, Pp 122-122 (2023)
Background: Focal dermal hypoplasia (Goltz syndrome) is a genetic multisystem disorder characterized primarily by involvement of the skin associated to face, skeletal, and eyes anomalies. The objective of the present series is to shed light on this r
Externí odkaz:
https://doaj.org/article/776a9cc7aeb24dbcb8ff4bc8e926e297
Autor:
Fatima Zahra Bouzid, Maria Mansouri, Chaikhy Abdelaziz, Nisrine Louhab, Sablonniere Bernard, Isabelle Strubi-vuillaume, Kenza Dafir, Nisrine Aboussair
Publikováno v:
The Pan African Medical Journal, Vol 38, Iss 162 (2021)
Spinocerebellar ataxia type 7 (SCA7) is a rare autosomal dominant neurodegenerative disease. Its clinical presentation is a progressive cerebellar ataxia associated with cone and retinal dystrophy. The CAG repeat expansion in the ataxin-7 gene (ATXN7
Externí odkaz:
https://doaj.org/article/3f82a58558be4c39bf1df5c5e0ea4e35
Publikováno v:
The Pan African Medical Journal, Vol 37, Iss 349 (2020)
The 1p36 deletion syndrome results from a heterozygous deletion of the terminal chromosomal band of the short arm of chromosome 1. Monosomy 1p36 is the most common terminal deletion observed in men (1 in 5000 newborns), characterized by distinctive d
Externí odkaz:
https://doaj.org/article/62b05830545840ceafcdedcb90566cf2
Autor:
Jaber Lyahyai, Bouchra Ouled Amar Bencheikh, Siham C. Elalaoui, Maria Mansouri, Lamia Boualla, Alexandre DIonne-Laporte, Dan Spiegelman, Patrick A. Dion, Patrick Cossette, Guy A. Rouleau, Abdelaziz Sefiani
Publikováno v:
BMC Pediatrics, Vol 18, Iss 1, Pp 1-4 (2018)
Abstract Background Epilepsy regroups a common and diverse set of chronic neurological disorders that are characterized by spontaneous, unprovoked, and recurrent epileptic seizures. Epilepsies have a highly heterogeneous background with a strong gene
Externí odkaz:
https://doaj.org/article/f733086834174ca782859d8ca61c842e
Autor:
Maria Mansouri, Amal Zniber, Lamia Boualla, Ghizlane El Badaoui, Mariam Benkacem, Kaoutar Rifai, Abdelmjid Chraibi, Loubna Benamar, Abdelaziz Sefiani, Rabia Bayahia
Publikováno v:
Saudi Journal of Kidney Diseases and Transplantation, Vol 28, Iss 2, Pp 261-267 (2017)
Diabetic nephropathy (DN) is one of the severe complications of Type-2 diabetes mellitus (T2DM) and a major cause of end-stage renal disease in these patients. Results from published studies on the relationship between angiotensin-converting enzyme (
Externí odkaz:
https://doaj.org/article/26e8276b1de643e58638a50aa5d4792d
Autor:
Maria Mansouri, Hassan Akallakh, Kenza Dafir, Fatimazahrae Bouzid, Aitbenali Said, Nisrine Aboussair
Publikováno v:
Scholars Journal of Medical Case Reports. 10:811-814
Carpenter syndrome (MIM 201000) is a rare autosomal recessive disorder characterized by combination of acrocephaly, syndactyly and brachydactyly in the hands as well as syndactyly and preaxial polydactyly of the toes. Other variable features can be p
Publikováno v:
(IJRE) International Journal of Research and Ethics (ISSN 2665-7481). 5
Achondroplasia is the most common form of inherited dwarfism. It is an autosomal dominant disease with complete penetrance, although most of the cases are sporadic. This is due to a mutation in the fibroblast growth factor receptor 3 (FGFR3) encoding
Publikováno v:
Pan African Medical Journal. 37
The 1p36 deletion syndrome results from a heterozygous deletion of the terminal chromosomal band of the short arm of chromosome 1. Monosomy 1p36 is the most common terminal deletion observed in men (1 in 5000 newborns), characterized by distinctive d
Autor:
Jaber Lyahyai, Abdelaziz Sefiani, Dan Spiegelman, Bouchra Ouled Amar Bencheikh, Guy A. Rouleau, Lamia Boualla, Patrick Cossette, Patrick A. Dion, Maria Mansouri, Alexandre Dionne-Laporte, Siham Chafai Elalaoui
Publikováno v:
BMC Pediatrics
BMC Pediatrics, Vol 18, Iss 1, Pp 1-1 (2018)
BMC Pediatrics, Vol 18, Iss 1, Pp 1-1 (2018)
Background Epilepsy regroups a common and diverse set of chronic neurological disorders that are characterized by spontaneous, unprovoked, and recurrent epileptic seizures. Epilepsies have a highly heterogeneous background with a strong genetic contr