Zobrazeno 1 - 10
of 339
pro vyhledávání: '"exome sequence"'
Autor:
Abdulrahman Al-Hussaini, Sami Alrashidi, Deema H. Hafez, Yasir S. Alkhalifah, Bashaer Otayn, Majid Alrasheed, Sumayah Al Mufarreh, Sultan AlKasim
Publikováno v:
Frontiers in Pediatrics, Vol 12 (2024)
BackgroundMost of the literature on infantile cholestasis (IC) originated from Caucasian and Asian populations. The differential diagnosis of IC is very broad, and identification of etiology is challenging to clinicians because the list includes many
Externí odkaz:
https://doaj.org/article/eafece4d43994c9083de31781e7267db
Autor:
Angie C. Jelin, Nikolai Sopko, Nara Sobreira, Simeon A. Boyadjiev, Elizabeth Wohler, Christian Morrill, P. Dane Witmer, Jason Michaud, David Valle, John Gearhart, Heather Dicarlo
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
Introduction/backgroundBladder exstrophy epispadias complex (BEEC) is a rare congenital anomaly of unknown etiology, although, genetic and environmental factors have been associated with its development. Variants in several genes expressed in the uro
Externí odkaz:
https://doaj.org/article/127230c166d3429aae887665395af002
Autor:
Farzane Vafaeie, Zahra Miri Karam, Abolfazl Yari, Hossein Safarpour, Tooba Kazemi, Shokoofeh Etesam, Mojtaba Mohammadpour, Ebrahim Miri‐Moghaddam
Publikováno v:
Health Science Reports, Vol 6, Iss 10, Pp n/a-n/a (2023)
Abstract Background and Aims Marfan syndrome (MFS) is an autosomal dominant genetic disorder caused by pathogenic variants of the fibrillin‐1‐encoding FBN1 gene that commonly affects the cardiovascular, skeletal, and ocular systems. This study ai
Externí odkaz:
https://doaj.org/article/96a888b148644dbbae8b6863192e6fac
Autor:
Yu Hu, Miao Li, Yanmei Shen, Tianyun Wang, Qiwei Liu, Zhonghua Lu, Hong Wang, Xuerong Luo, Lixin Yang
Publikováno v:
Frontiers in Psychiatry, Vol 14 (2023)
Serine/threonine protein kinases are involved in axon formation and neuronal polarization and have recently been implicated in autism spectrum disorder (ASD) and neurodevelopmental disorders (NDD). Here, we focus on BRSK2, which encodes brain-specifi
Externí odkaz:
https://doaj.org/article/921fe69dc1644907841c8de450fa703f
Autor:
Noor Ahmad Shaik, Najla Al-Shehri, Mohammad Athar, Ahmed Awan, Mariam Khalili, Hadiah Bassam Al Mahadi, Gehan Hejazy, Omar I. Saadah, Sameer Eida Al-Harthi, Ramu Elango, Babajan Banaganapalli, Eman Alefishat, Zuhier Awan
Publikováno v:
Frontiers in Physiology, Vol 14 (2023)
Familial hypercholesterolemia (FH) is a globally underdiagnosed genetic condition associated with premature cardiovascular death. The genetic etiology data on Arab FH patients is scarce. Therefore, this study aimed to identify the genetic basis of FH
Externí odkaz:
https://doaj.org/article/e5c12319f28648118c8996fe07116d20
Autor:
You Wang, Fang Fu, Tingying Lei, Li Zhen, Qiong Deng, Hang Zhou, Chunling Ma, Ken Cheng, Ruibin Huang, Ru Li, Qiuxia Yu, Lushan Li, Jin Han, Xin Yang, Dongzhi Li, Can Liao
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Background: Microcephaly is common in patients with neuropsychiatric problems, and it is usually closely related to genetic causes. However, studies on chromosomal abnormalities and single-gene disorders associated with fetal microcephaly are limited
Externí odkaz:
https://doaj.org/article/176be2082abf419ab2633c2dba6e85ee
Autor:
Rostislav Skitchenko, Yulia Dinikina, Sergey Smirnov, Mikhail Krapivin, Anna Smirnova, Daria Morgacheva, Mykyta Artomov
Publikováno v:
Frontiers in Oncology, Vol 12 (2023)
Medulloblastoma (MB) is the most common pediatric brain tumor which accounts for about 20% of all pediatric brain tumors and 63% of intracranial embryonal tumors. MB is considered to arise from precursor cell populations present during an early brain
Externí odkaz:
https://doaj.org/article/f9c9462376b140498df088ed230390c8
Publikováno v:
BMC Medical Genomics, Vol 14, Iss 1, Pp 1-6 (2021)
Abstract Background Joubert syndrome (JS) is a group of rare congenital disorders characterized by cerebellar vermis dysplasia, developmental delay, and retina dysfunctions. Herein, we reported a Chinese patient carrying a new variant in the AHI1 gen
Externí odkaz:
https://doaj.org/article/8d1baab24f834121b33bf3eff839b330
Autor:
Shoko Onodera, Nana Morita, Yuriko Nakamura, Shinichi Takahashi, Kazuhiko Hashimoto, Takeshi Nomura, Akira Katakura, Kenjiro Kosaki, Toshifumi Azuma
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-7 (2021)
Abstract Background Basal cell carcinoma (BCC) is the most commonly occurring neoplasm in patients with Gorlin syndrome. It is widely accepted that multiple basal cell carcinomas simultaneously develop in middle-aged patients with this syndrome. Howe
Externí odkaz:
https://doaj.org/article/9758cb90a51442a99ae702029e19ebd8
Publikováno v:
Genetics and Molecular Biology, Vol 45, Iss 3 (2022)
Abstract Precision Medicine emerges from the genomic paradigm of health and disease. For precise molecular diagnoses of genetic diseases, we must analyze the Whole Exome (WES) or the Whole Genome (WGS). By not needing exon capture, WGS is more powerf
Externí odkaz:
https://doaj.org/article/28a9f60c2ff64b99a2367742a82421b1