Zobrazeno 1 - 10
of 28
pro vyhledávání: '"Afif, Ben-Mahmoud"'
Autor:
Mohammad-Reza Ghasemi, Hossein Sadeghi, Farzad Hashemi-Gorji, Reza Mirfakhraie, Vijay Gupta, Afif Ben-Mahmoud, Saman Bagheri, Katayoon Razjouyan, Shadab Salehpour, Seyed Hassan Tonekaboni, Mehdi Dianatpour, Davood Omrani, Mi-Hyeon Jang, Lawrence C. Layman, Mohammad Miryounesi, Hyung-Goo Kim
Publikováno v:
BMC Medical Genomics, Vol 17, Iss 1, Pp 1-15 (2024)
Abstract Background and objective Autosomal recessive genetic disorders pose significant health challenges in regions where consanguineous marriages are prevalent. The utilization of exome sequencing as a frequently employed methodology has enabled a
Externí odkaz:
https://doaj.org/article/aeb9e5f8744b4746b6c6e83c686a2bff
Autor:
Afif Ben-Mahmoud, Shotaro Kishikawa, Vijay Gupta, Natalia T. Leach, Yiping Shen, Oana Moldovan, Himanshu Goel, Bruce Hopper, Kara Ranguin, Nicolas Gruchy, Saskia M Maas, Yves Lacassie, Soo-Hyun Kim, Woo-Yang Kim, Bradley J. Quade, Cynthia C. Morton, Cheol-Hee Kim, Lawrence C. Layman, Hyung-Goo Kim
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-23 (2023)
Abstract In a patient diagnosed with both Kallmann syndrome (KS) and intellectual disability (ID), who carried an apparently balanced translocation t(7;12)(q22;q24)dn, array comparative genomic hybridization (aCGH) disclosed a cryptic heterozygous 4.
Externí odkaz:
https://doaj.org/article/bf1deb454d1b4cdc861f88bc21658a2b
Autor:
Vijay Gupta, Afif Ben-Mahmoud, Bonsu Ku, Dinesh Velayutham, Zainab Jan, Abdi Yousef Aden, Ahmad Kubbar, Fouad Alshaban, Lawrence W. Stanton, Puthen Veettil Jithesh, Lawrence C. Layman, Hyung-Goo Kim
Publikováno v:
Frontiers in Psychiatry, Vol 14 (2023)
This study investigated the genetic underpinnings of autism spectrum disorder (ASD) in a Middle Eastern cohort in Qatar using exome sequencing. The study identified six candidate autism genes in independent simplex families, including both four known
Externí odkaz:
https://doaj.org/article/c16ac00a1bcd4c16a7757d6b44f8f09c
Publikováno v:
Microorganisms, Vol 11, Iss 9, p 2215 (2023)
Bacillus amyloliquefaciens, a Gram-positive bacterium, has emerged as a versatile microorganism with significant applications in various fields, including industry, medicine, and agriculture. This comprehensive review aims to provide an in-depth unde
Externí odkaz:
https://doaj.org/article/8658e93f47e2481a9ab7cd2e4580d594
Autor:
Afif Ben-Mahmoud, Kyung Ran Jun, Vijay Gupta, Pinang Shastri, Alberto de la Fuente, Yongsoo Park, Kyung Chul Shin, Chong Ae Kim, Aparecido Divino da Cruz, Irene Plaza Pinto, Lysa Bernardes Minasi, Alex Silva da Cruz, Laurence Faivre, Patrick Callier, Caroline Racine, Lawrence C. Layman, Il-Keun Kong, Cheol-Hee Kim, Woo-Yang Kim, Hyung-Goo Kim
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 15 (2022)
Genome-wide chromosomal microarray is extensively used to detect copy number variations (CNVs), which can diagnose microdeletion and microduplication syndromes. These small unbalanced chromosomal structural rearrangements ranging from 1 kb to 10 Mb c
Externí odkaz:
https://doaj.org/article/e23428a0e26c458789147c0c1b635ebe
Autor:
Afif, Ben-Mahmoud, Kyung Ran, Jun, Vijay, Gupta, Pinang, Shastri, Alberto, de la Fuente, Yongsoo, Park, Kyung Chul, Shin, Chong Ae, Kim, Aparecido Divino, da Cruz, Irene Plaza, Pinto, Lysa Bernardes, Minasi, Alex, Silva da Cruz, Laurence, Faivre, Patrick, Callier, Caroline, Racine, Lawrence C, Layman, Il-Keun, Kong, Cheol-Hee, Kim, Woo-Yang, Kim, Hyung-Goo, Kim
Publikováno v:
Frontiers in molecular neuroscience. 15
Genome-wide chromosomal microarray is extensively used to detect copy number variations (CNVs), which can diagnose microdeletion and microduplication syndromes. These small unbalanced chromosomal structural rearrangements ranging from 1 kb to 10 Mb c
Autor:
Mohammad-Reza Ghasemi, Hossein Sadeghi, Farzad Hashemi-Gorji, Reza Mirfakhraie, Vijay Gupta, Afif Ben-Mahmoud, Katayoon Razjouyan, Shadab Salehpour, Seyed Hassan Tonekaboni, Mehdi Dianatpour, Davood Omrani, Lawrence C. Layman, Hyung-Goo Kim, Mohammad Miryounesi
Background Autosomal recessive genetic disorders are leading health concerns in countries with consanguineous marriage. However, previously there was no strong association of consanguinity with autosomal dominant or X-linked inheritance patterns. Whe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5c7057bedfe4199b038603c56cbf3952
https://doi.org/10.21203/rs.3.rs-1411351/v1
https://doi.org/10.21203/rs.3.rs-1411351/v1
Publikováno v:
Journal of Molecular Neuroscience. 70:320-327
Intellectual disability (ID) is one of the most common developmental disorders characterized by a congenital limitation in intellectual functioning and adaptive behavior. More than 800 genes have been implicated so far in the pathogenesis of syndromi
Autor:
Cheol-Hee Kim, Seung-Tae Lee, Joon Soo Lee, Juneyong Eum, Hoon Chul Kang, Se Hee Kim, Bonsu Ku, Kang-Han Lee, Joshua L. Bonkowsky, Yun Kee, Tae-Ik Choi, Sangkyu Lee, Hyung-Goo Kim, Afif Ben-Mahmoud, Yu-Ri Lee, Oc-Hee Kim, Jihoon Cha, Heung Dong Kim, Dongju Won, Jong Rak Choi
Publikováno v:
Human molecular genetics. 30(5)
Leukodystrophy with vanishing white matter (VWM), also called Childhood Ataxia with Central Nervous System Hypomyelination, is caused by mutations in the subunits of the eukaryotic translation initiation factor, EIF2B1, EIF2B2, EIF2B3, EIF2B4 or EIF2
Publikováno v:
Clinical Genetics. 93:1148-1158
Al-Gazali syndrome encompasses several clinical features including prenatal growth retardation, large joints contractures with camptodactyly, bilateral talipes equinovarus, small mouth, anterior segment anomalies of the eyes, and early lethality. Rec