Zobrazeno 1 - 10
of 319
pro vyhledávání: '"targeted exome sequencing"'
Autor:
Yangui Lin, Dan Li, Hongliang Hui, Haoran Miao, Min Luo, Bhaskar Roy, Binbin Chen, Wei Zhang, Di Shao, Di Ma, Yanbing Jie, Fan Qiu, Huaming Li, Bo Jiang
Publikováno v:
Frontiers in Oncology, Vol 14 (2024)
IntroductionAdenocarcinoma in situ (AIS) and minimally invasive adenocarcinoma (MIA) are considered pre-invasive forms of lung adenocarcinoma (LUAD) with a 5-year recurrence-free survival of 100%. We investigated genomic profiles in early tumorigenes
Externí odkaz:
https://doaj.org/article/4fd3c8f9f356424d92f5b6cbffcc4220
Autor:
Ji Yoon Han, Joonhong Park
Publikováno v:
Heliyon, Vol 10, Iss 7, Pp e28684- (2024)
Background: SCN4A mutations account for a diverse array of clinical manifestations, encompassing periodic paralysis, myotonia, and newly recognized symptoms like classical congenital myopathy or congenital myasthenic syndromes. We describe the initia
Externí odkaz:
https://doaj.org/article/7f056933b5ac4511ba85d376e6a4fe75
Autor:
Omar Zgheib, Lina Quteineh, Paloma Parvex, Caterina Marconi, Valerie Schwitzgebel, Massimiliano Bertacchi
Publikováno v:
Pediatric Discovery, Vol 2, Iss 1, Pp n/a-n/a (2024)
Abstract Nephrocalcinosis is a complex disease with a multitude of triggering factors. An association with congenital hypothyroidism has been described in the literature, but the mechanisms leading to its development remain unclear. A 7‐month‐old
Externí odkaz:
https://doaj.org/article/2283c18b07c14cb9ae4f402a2577c6bc
Autor:
Michelle Bloyd, Ninet Sinaii, Fabio Rueda Faucz, James Iben, Steven L. Coon, Sonia Caprio, Nicola Santoro, Constantine A. Stratakis, Edra London
Publikováno v:
Frontiers in Endocrinology, Vol 14 (2023)
IntroductionPediatric obesity has steadily increased in recent decades. Large-scale genome-wide association studies (GWAS) conducted primarily in Eurocentric adult populations have identified approximately 100 loci that predispose to obesity and type
Externí odkaz:
https://doaj.org/article/3c73aefed5704116b3d0233a2c31eb5f
Autor:
Yoon-Myung Kim, Yena Lee, Yunha Choi, In Hee Choi, Sun Hee Heo, Jung Min Choi, Hyo-Sang Do, Ja-Hyun Jang, Mi-Sun Yum, Han-Wook Yoo, Beom Hee Lee
Publikováno v:
BMC Medical Genomics, Vol 15, Iss 1, Pp 1-11 (2022)
Abstract Background The genetic features and treatment strategies of lateralized overgrowth have been elusive. We performed this study to analyze the genetic characteristics and treatment results of propranolol- or alpelisib-treated patients with lat
Externí odkaz:
https://doaj.org/article/c089b3d5ca8a4853bb48a1e9a785b7df
Autor:
Dongjun Xing, Rongguo Yu, Linni Wang, Liying Hu, Yang Yang, Chang Li, Zhiqing Li, Xiaorong Li
Publikováno v:
BMC Ophthalmology, Vol 22, Iss 1, Pp 1-8 (2022)
Abstract Background Usher syndrome (USH) is a leading disorder of deaf–blindness. The phenotypic and genetic heterogeneity of USH makes the diagnosis of this disorder difficult. However, diagnosis can be facilitated by employing molecular approache
Externí odkaz:
https://doaj.org/article/e0f46e3bda0b45aea8153ffe19c9b879
Publikováno v:
Frontiers in Pediatrics, Vol 11 (2023)
BackgroundAtaxia-telangiectasia (A-T) is an autosomal recessive disorder with high clinical heterogeneity. A-T may present in complicated variable forms, including classic A-T and milder form of AT. Contrary to the classic A-T, the milder form does n
Externí odkaz:
https://doaj.org/article/594cd5f871b849bdba4c9b9a4ab4d2d0
Akademický článek
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Akademický článek
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Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-19 (2021)
Abstract Background Large-scale genomic analyses have provided insight into the genetic complexity of short stature (SS); however, only a portion of genetic causes have been identified. In this study, we identified disease-causing mutations in a coho
Externí odkaz:
https://doaj.org/article/5e01a665786b47638a7fcc09fc02b5f4