Zobrazeno 1 - 10
of 733
pro vyhledávání: '"mlpa (“multiplex ligation-dependent probe amplification”)"'
Publikováno v:
Human Genomics, Vol 18, Iss 1, Pp 1-11 (2024)
Abstract Spinal muscular atrophy (SMA) is the second most common fatal genetic disease in infancy. It is caused by deletion or intragenic pathogenic variants of the causative gene SMN1, which degenerates anterior horn motor neurons and leads to progr
Externí odkaz:
https://doaj.org/article/7b6d1a3ba0c44da38172ddf17cbbbd63
Publikováno v:
BMC Medical Genomics, Vol 16, Iss 1, Pp 1-8 (2023)
Abstract Objective This study is a retrospective analysis of the prenatal genetic diagnosis results of 1408 foetuses at high risk of DMD/BMD to provide information for clinical genetic counselling. Background Duchenne muscular dystrophy (DMD) is a se
Externí odkaz:
https://doaj.org/article/399ffbce177540f29bd43879b2aad1af
Autor:
Maria Mabyalwa Mudau, Bronwyn Dillon, Clarice Smal, Candice Feben, Engela Honey, Nadia Carstens, Amanda Krause
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic condition with complete age-dependent penetrance, variable expressivity and a global prevalence of ∼1/3,000. It is characteriszed by numerous café-au-lait macules, skin freckling in t
Externí odkaz:
https://doaj.org/article/829aa2fc37e1447ea60602e3bd4756b6
Autor:
Yuko Tasaki, Hiroshi Tsujimoto, Tadafumi Yokoyama, Naotoshi Sugimoto, Shinji Kitajima, Hiroshi Fujii, Yoshihiko Hidaka, Noritoshi Kato, Shoichi Maruyama, Norimitsu Inoue, Taizo Wada
Publikováno v:
Frontiers in Immunology, Vol 15 (2024)
Mutations in the complement factor H (CFH) gene are associated with complement dysregulation and the development of atypical hemolytic uremic syndrome (aHUS). Several fusion genes that result from genomic structural variation in the CFH and complemen
Externí odkaz:
https://doaj.org/article/3826fc4218354dfb852f4e030e700c1b
Publikováno v:
Frontiers in Medicine, Vol 10 (2023)
BackgroundThalassemia is a common inherited hemoglobin disorder caused by a deficiency of one or more globin subunits. Substitution variants and deletions in the HBB gene are the major causes of β-thalassemia, of which large fragment deletions are r
Externí odkaz:
https://doaj.org/article/5d066a138d3d4ab4a83a8ee6763a5bfb
Akademický článek
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Autor:
M. Schiava, C. Marchesoni, M.L. García de Rosa, N. Estrada, L.L. Cejas, A. Pardal, L. Pirra, L. Repetto, A. Torres, A. Dubrovsky, R. Reisin
Publikováno v:
Neurology Perspectives, Vol 2, Iss 3, Pp 123-133 (2022)
Introduction: The Limb Girdle Muscular Dystrophies (LGMD) are a heterogeneous group of genetically inherited myopathies characterized by progressive weakness of the limb-girdle muscles. Pompe disease (PD) is a treatable lysosomal storage disorder wit
Externí odkaz:
https://doaj.org/article/978b004dbca24d97893eab1cc79406ba
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 10 (2023)
Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited kidney disease. Although next-generation sequencing (NGS) technology can be used to sequence tens of thousands of DNA molecules simultaneously. It has poor capture effi
Externí odkaz:
https://doaj.org/article/488afc8334894b12b56242724d083551
Autor:
Ashish Kumar Singh, Maren Fridtjofsen Olsen, Liss Anne Solberg Lavik, Trine Vold, Finn Drabløs, Wenche Sjursen
Publikováno v:
BMC Medical Genomics, Vol 14, Iss 1, Pp 1-12 (2021)
Abstract Background Detection of copy number variation (CNV) in genes associated with disease is important in genetic diagnostics, and next generation sequencing (NGS) technology provides data that can be used for CNV detection. However, CNV detectio
Externí odkaz:
https://doaj.org/article/84d201fa49674f48a6b546f71115b19b
Publikováno v:
BMC Medical Genomics, Vol 14, Iss 1, Pp 1-9 (2021)
Abstract Objective DMD/BMD prenatal diagnosis for 931 foetuses. Background DMD is the most common fatal X-linked recessive muscular disease. There is no effective clinical treatment method at present. Accurate gene diagnosis and prenatal diagnosis te
Externí odkaz:
https://doaj.org/article/52f8f95e694b49498af368b961308b2c