Zobrazeno 1 - 10
of 4 326
pro vyhledávání: '"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
Autor:
Yimo Zeng, Hongke Ding, Xingwang Wang, Yanlin Huang, Ling Liu, Li Du, Jian Lu, Jing Wu, Yukun Zeng, Mingqin Mai, Juan Zhu, Lihua Yu, Wei He, Fangfang Guo, Haishan Peng, Cuize Yao, Yiming Qi, Yuan Liu, Fake Li, Jiexia Yang, Rong Hu, Jie Liang, Jicheng Wang, Wei Wang, Yan Zhang, Aihua Yin
Publikováno v:
Journal of Translational Medicine, Vol 22, Iss 1, Pp 1-9 (2024)
Abstract Background Genetic disorders often manifest as abnormal fetal or childhood development. Copy number variations (CNVs) represent a significant genetic mechanism underlying such disorders. Despite their importance, the effectiveness of clinica
Externí odkaz:
https://doaj.org/article/433d3f2043ea4df4a876a0f806b3fcd1
Autor:
Hiago Azevedo Cintra, Danielle Nascimento Rocha, Ana Carolina Carioca da Costa, Latife Salomão Tyszler, Silvia Freitas, Leonardo Abreu de Araujo, Lisanne Incoutto Crozoe, Luísa Ribeiro de Paula, Patricia Santana Correia, Leonardo Henrique Ferreira Gomes, Letícia da Cunha Guida
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-12 (2024)
Abstract Background Prader-Willi syndrome (PWS) is a genetic disorder characterized by abnormalities in the 15q11-q13 region. Understanding the correlation between genotype and phenotype in PWS is crucial for improved genetic counseling and prognosis
Externí odkaz:
https://doaj.org/article/c32942ccee0a44c2b040003739d3ee24
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
Autor:
Margit Pál, Éva Vetró, Nikoletta Nagy, Dóra Nagy, Emese Horváth, Barbara Anna Bokor, Anita Varga, László Seres, Judit Oláh, József Piffkó, Márta Széll
Publikováno v:
Current Issues in Molecular Biology, Vol 45, Iss 7, Pp 5293-5304 (2023)
Basal cell nevus syndrome (BCNS, OMIM 109400) is a familial cancer syndrome characterized by the development of numerous basal cell cancers and various other developmental abnormalities, including epidermal cysts of the skin, calcified dural folds, k
Externí odkaz:
https://doaj.org/article/f0a534224e3742919de313dd11bcbc53
Autor:
Ja Hye Kim, Yunha Choi, Soojin Hwang, Ji-Hee Yoon, Jieun Lee, Min Jae Kang, Gu-Hwan Kim, Han-Wook Yoo, Jin-Ho Choi
Publikováno v:
Endocrine Connections, Vol 12, Iss 5, Pp 1-11 (2023)
Objective: This study was performed to investigate the molecular characteristics and frequency of copy number variations (CNVs) of ANOS1 in patients with Kallmann syndrome (KS) or normosmic isolated hypogonadotropic hypogonadism (nIHH) using multiple
Externí odkaz:
https://doaj.org/article/368140b25ade47a79889160fc12b6735
Publikováno v:
Shipin Kexue, Vol 44, Iss 4, Pp 300-305 (2023)
A multiplex ligation-dependent probe amplification (MLPA) technique was developed for simultaneous detection of six food allergens: soy, sesame, peanut, almond, hazelnut and walnut. Six pairs of species-specific MLPA probes targeting the internal tra
Externí odkaz:
https://doaj.org/article/1fe1308913f6444bb5bd27b5230d8e98
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