Zobrazeno 1 - 10
of 89
pro vyhledávání: '"Said El-Shamieh"'
Autor:
Said El Shamieh, Alain Chebly
Publikováno v:
Systematic Reviews, Vol 13, Iss 1, Pp 1-4 (2024)
Externí odkaz:
https://doaj.org/article/734af1491add46b480c3cf83e1b65187
Publikováno v:
Experimental Biology and Medicine, Vol 249 (2024)
Alzheimer’s disease (AD) is a prevalent neurodegenerative disorder characterized by progressive cognitive decline. Genetic factors have been implicated in disease susceptibility as its etiology remains multifactorial. The CD33 and the HLA-DRB1 gene
Externí odkaz:
https://doaj.org/article/ab8d5a4ec84a4e73b1681488b750db01
Publikováno v:
Journal of Infection and Public Health, Vol 17, Iss 10, Pp 102535- (2024)
Background: The gut microbiome is made up of a diverse range of bacteria, especially gram-negative bacteria, and is crucial for human health and illness. There is a great deal of interest in the dynamic interactions between gram-negative bacteria and
Externí odkaz:
https://doaj.org/article/0734579c47684d0c9b1ee0429f1c6131
Publikováno v:
BMC Ophthalmology, Vol 24, Iss 1, Pp 1-12 (2024)
Abstract Purpose The goal of the study was to search for novel bi-allelic CRB1 mutations, and then to analyze the CRB1 literature at the genotypic and phenotypic levels. Approach We screened various variables such as the CRB1 mutation types, domains,
Externí odkaz:
https://doaj.org/article/2f9fa42411304ac999e2c93ed33dc9eb
Publikováno v:
Heliyon, Vol 10, Iss 9, Pp e30304- (2024)
Variants in ATP-binding cassette transporter type A4 (ABCA4) have been linked to several forms of inherited retinal diseases (IRDs) besides the classically defined Stargardt disease (STGD), known collectively as ABCA4 retinopathies. ABCA4 is a sizabl
Externí odkaz:
https://doaj.org/article/9a27e0872d16436bb81fa7d7b3f09571
Autor:
Lama Jaffal, Hawraa Joumaa, Jinane Noureldine, Malak Banjak, Mariam Ibrahim, Zamzam Mrad, Ali Salami, Said El Shamieh
Publikováno v:
BMC Medical Genomics, Vol 16, Iss 1, Pp 1-9 (2023)
Abstract Inherited retinal dystrophies (IRDs) are a major cause of vision loss. Altogether are highly heterogeneous genotypically and phenotypically, exhibiting substantial differences worldwide. To shed more light on these conditions, we investigate
Externí odkaz:
https://doaj.org/article/b0843a79bd91497c91545f3f7b03c4e1
Autor:
Lama Jaffal, Zamzam Mrad, Mariam Ibrahim, Ali Salami, Isabelle Audo, Christina Zeitz, Said El Shamieh
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-12 (2022)
Abstract Non-syndromic rod-cone dystrophy (RCD) is the most common condition in inherited retinal diseases. The aim of this study was to evaluate the research output and productivity related to RCD genetics per countries as classified by the human de
Externí odkaz:
https://doaj.org/article/ef5259803b554c239ed519d52d50e673
Autor:
Said El Shamieh, Paolo Enrico Maltese
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Externí odkaz:
https://doaj.org/article/634fd6b9867749499d398c7bde7c01ab
Autor:
Paolo Enrico Maltese, Leonardo Colombo, Salvatore Martella, Luca Rossetti, Said El Shamieh, Lorenzo Sinibaldi, Chiara Passarelli, Andrea Maria Coppè, Luca Buzzonetti, Benedetto Falsini, Pietro Chiurazzi, Giorgio Placidi, Benedetta Tanzi, Matteo Bertelli, Giancarlo Iarossi
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Purpose: Describing the clinical and genetic features of an ethnically heterogeneous group of (inherited retinal diseases) IRD patients from different underrepresented countries, referring to specialized Italian Hospitals, and expanding the epidemiol
Externí odkaz:
https://doaj.org/article/64e60849a1b641d4bed9640d23cfdf90
Autor:
Lama Jaffal, Hanane Akhdar, Hawraa Joumaa, Mariam Ibrahim, Zahraa Chhouri, Alexandre Assi, Charles Helou, Hane Lee, Go Hun Seo, Wissam H. Joumaa, Said El Shamieh
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
The purpose of this study was to expand the mutation spectrum by searching the causative mutations in nine Lebanese families with Usher syndrome (USH) using whole-exome sequencing. The pathogenicity of candidate mutations was first evaluated accordin
Externí odkaz:
https://doaj.org/article/7ad1c41ee1c94d069ba33e1183875909