Results 11 to 20 of about 944,231 (329)
Effects of selection and mutation on epidemiology of X-linked genetic diseases
Mathematical Biosciences and Engineering, 2017 The epidemiology of X-linked recessive diseases, a class of genetic disorders, is modeled with a discrete-time, structured, non linear mathematical system.
Francesca Verrilli +4 more
doaj +5 more sources
Остеопороз и остеопатии, 2018 Osteogenesis imperfecta (OI) and X-linked hypophosphataemia (XLH) are rare genetic diseases, which lead to childhood-onset bone fragility, low-trauma fractures and limb deformities. OI occurs as a result of impaired type 1 collagen synthesis at different
Irina Yu. Popova +5 more
doaj +3 more sources
Genetic lessons learned from X‐linked Mendelian susceptibility to mycobacterial diseases [PDF]
Annals of the New York Academy of Sciences, 2011 Mendelian susceptibility to mycobacterial disease (MSMD) is a rare syndrome conferring predisposition to clinical disease caused by weakly virulent mycobacteria, such as Mycobacterium bovis Bacille Calmette Guérin (BCG) vaccines and nontuberculous, environmental mycobacteria (EM).
J. Bustamante +4 more
semanticscholar +3 more sources
Ethics in pre-ART genetics: a missed X-linked Menkes disease case [PDF]
Journal of Assisted Reproduction and Genetics, 2023 AbstractAssisted reproductive technology (ART) has experienced dramatic progress over the last 30 years, and gamete donation is routine in fertility clinics. Major advances in genetic diagnostics are part of this development due to the ability to analyze multiple genes or whole genomes fast and to an affordable prize.
A.-M. A. Gerdes +2 more
openaire +3 more sources
Molecular Genetics & Genomic Medicine, 2023 Background Dystrophinopathies are X‐linked recessive conditions caused by pathogenic variants in the dystrophin (DMD) gene. In a family that included two boys with Becker muscular dystrophy (BMD) due to a DMD deletion of exons 45–47, maternal carrier ...
Elizabeth A. Ulm +3 more
doaj +1 more source
Incomplete Partition Type III: Computed Tomography Features and Cochlear Implantation Complications
Oman Medical Journal, 2021 In this case report, we review a male child who presented with severe bilateral hearing loss. Preoperative high-resolution computed tomography (HRCT) evaluation facilitated the initial diagnosis of the disease, which revealed typical findings of cochlear
Raya Salim Al-Busaidi +4 more
doaj +1 more source
BMC Medical Genomics, 2022 Background Founder populations that have recently undergone important genetic bottlenecks such as French-Canadians and Ashkenazi Jews can harbor some pathogenic variants at a higher carrier rate than the general population, putting them at a higher risk ...
Philippe Pierre Robichaud +9 more
doaj +1 more source
Genetic Etiology and Clinical Consequences of Cone Disorders [PDF]
, 2011 Hereditary retinal disorders constitute a large heterogeneous group of diseases in which the photoreceptors are primarily aff ected. When cone cells are aff ected, one cannot see details or perceive color.
Thiadens, A.A.H.J. (Alberta)
core +6 more sources
Genetic Heterogeneity in Patients with X-Linked Recessive Chronic Granulomatous Disease [PDF]
Pediatric Research, 1992 Genetic heterogeneity in 12 patients from 11 different families with X-linked recessive chronic granulomatous disease was studied by Southern blot analysis using cytochrome b heavy-chain cDNA as a probe. We found the abnormal restriction length fragment patterns of the cytochrome b heavy-chain gene in three families, which were not observed in healthy ...
T, Ariga +6 more
openaire +2 more sources
ACE 2 Coding Variants: A Potential X-linked Risk Factor for COVID-19 Disease
bioRxiv, 2020 Viral genetic variants are widely known to influence disease progression among infected humans. Given the recent and rapid emergence of pandemic SARS-CoV-2 infection, the cause of COVID-19 disease, viral protein variants have attracted research interest.
W. Gibson +3 more
semanticscholar +1 more source