Results 61 to 70 of about 11,828,008 (230)
Health Psychology and Behavioral Medicine, 2022 Objective Sickle cell disease (SCD) is the most frequent monogenic disease worldwide. Psychological and behavioural factors are often reported as playing a significant role in predicting SCD health outcomes.
Damien Oudin Doglioni +3 more
doaj +1 more source
Application of muscle MRI in diagnosis of hereditary myopathies
Chinese Journal of Contemporary Neurology and Neurosurgery, 2021 MRI is the most clear and accurate imaging technique for detecting muscle involvement. In recent years, MRI has been widely used in diagnosis and follow⁃up of muscle disorders.
SONG Jia +4 more
doaj +1 more source
Ciência & Saúde Coletiva, 2019 Rare genetic diseases are an important public health problem, but they are still little studied in Collective Health. This article aims to analyze the ‘therapeutic itineraries’ of patients in search of a diagnosis and treatment for rare genetic diseases ...
J. Iriart +5 more
semanticscholar +1 more source
Genomic copy number variation association study in Caucasian patients with nonsyndromic cryptorchidism [PDF]
, 2016 Copy number variation (CNV) is a potential contributing factor to many genetic diseases. Here we investigated the potential association of CNV with nonsyndromic cryptorchidism, the most common male congenital genitourinary defect, in a Caucasian ...
Abrams, Debra J. +17 more
core +1 more source
Drugs in R&D, 2023 Background and Objective Fabry disease (FD) is a rare lysosomal storage disorder caused by a deficiency of the enzyme α-galactosidase A (aGal A). Since 2001, two different enzyme replacement therapies have been authorized, with agalsidase beta being used
André B. P. van Kuilenburg +11 more
doaj +1 more source
Emphasized the diagnosis and therapy of curative neurogenetic diseases
Chinese Journal of Contemporary Neurology and Neurosurgery, 2021 In recent years, great progress has been made in the treatment of neurogenetic diseases. Specific drugs have been used to treat diseases that were uncurable in the past, and there are noteworthy curative effects.
ZHANG Cheng
doaj +1 more source
Frontiers in Genetics, 2018 Chromosome 17p13.3 is a region of genomic instability that is linked to different rare neurodevelopmental genetic diseases, depending on whether a deletion or duplication of the region has occurred.
Sara M. Blazejewski +3 more
semanticscholar +1 more source
Genetics update: monogenetics, polygene disorders and the quest for modifying genes [PDF]
, 2018 The genetic channelopathies are a broad collection of diseases. Many ion channel genes demonstrate wide phenotypic pleiotropy, but nonetheless concerted efforts have been made to characterise genotype-phenotype relationships.
Symonds, Joseph D., Zuberi, Sameer M.
core +1 more source
Pathway-based classification of genetic diseases
Molecular Cytogenetics, 2019 In medical genetics, diseases are classified according to the nature (hypothetical nature) of the underlying genetic defect. The classification is “gene-centric” and “factor-centric”; a disease may be, thereby, designated as monogenic, oligogenic or ...
I. Iourov, S. Vorsanova, Y. Yurov
semanticscholar +1 more source
Familial vasculitides: granulomatosis with polyangitis and microscopic polyangitis in two brothers with differing anti-neutrophil cytoplasm antibody specificity [PDF]
, 2016 Anti-neutrophil cytoplasm antibody (ANCA)-associated vasculitis (AAV) is a group of rare autoimmune diseases. Although the aetiology of AAV is uncertain, it is likely that genetic and environmental factors contribute.
Cairns, T, Prendecki, M, Pusey, CD
core +1 more source