Zobrazeno 1 - 10
of 195
pro vyhledávání: '"genotype-phenotype analysis"'
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 19, p 10451 (2024)
Deciduous tooth agenesis is a severe craniofacial developmental defect because it affects masticatory function from infancy and may result in delayed growth and development. Here, we aimed to identify the crucial pathogenic genes and clinical feature
Externí odkaz:
https://doaj.org/article/0d4aadd88a804c499300ac58309e0658
Autor:
Xiaoshan Ji, Yanzhuang Ge, Qi Ni, Suhua Xu, Zhongmeng Xiong, Lin Yang, Liyuan Hu, Yun Cao, Yulan Lu, Qiufen Wei, Wenqing Kang, Deyi Zhuang, Wenhao Zhou, Xinran Dong
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Primary carnitine deficiency (PCD) caused by pathogenic variants in the solute carrier family 22 member 5 (SLC22A5) gene is a rare autosomal recessive disease that results in defective fatty acid oxidation. PCD can be detected through tandem mass spe
Externí odkaz:
https://doaj.org/article/5f3c68adea68453ea7eb5ba93262620c
Autor:
Ying Bai, Yue Sun, Ning Liu, Li Wang, Zhihui Jiao, Yaqin Hou, Huikun Duan, Qianqian Li, Xiaofan Zhu, Jingjing Meng, Xiangdong Kong
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-12 (2022)
Abstract Background Fetal skeletal dysplasia (SD) is a common congenital disability comprising a complex group of skeletal disorders with substantial clinical and genetic heterogeneity. Many of these defects are detected prenatally using ultrasound (
Externí odkaz:
https://doaj.org/article/1ffb5a473f8148aa87b820387570201d
Akademický článek
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Autor:
Wenjie Zhong, Huaxiang Zhao, Wenbin Huang, Mengqi Zhang, Qian Zhang, Yue Zhang, Chong Chen, Zulihumaer Nueraihemaiti, Dilifeire Tuerhong, Huizhe Huang, Gulibaha Maimaitili, Feng Chen, Jiuxiang Lin
Publikováno v:
Genes and Diseases, Vol 8, Iss 5, Pp 689-697 (2021)
The Patched 1 (PTCH1) gene encodes a membrane receptor involved in the Hedgehog (Hh) signaling pathway, an abnormal state of which may result in congenital defects or human tumors. In this study, we conducted whole-exome sequencing on a three-generat
Externí odkaz:
https://doaj.org/article/0483e18d8154472bbab1376c06be6507
Autor:
Ning Qu, Wei Li, Dong‐Ming Han, Jia‐Yu Gao, Zheng‐Tao Yang, Li Jiang, Tian‐Bin Liu, Yan‐Xian Chen, Xiao‐Sen Jiang, Liang Zhou, Ji‐Hong Wu, Xin Huang
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 10, Iss 9, Pp n/a-n/a (2022)
Abstract Purpose To expand the mutation spectrum of patients with familial exudative vitreoretinopathy (FEVR) disease. Participants 74 probands (53 families and 21 sporadic probands) with familial exudative vitreoretinopathy (FEVR) disease and their
Externí odkaz:
https://doaj.org/article/b9f921811bd747848a5bd9b88e321e66
Autor:
Lu Han, Zhen Zhang, Hui Wang, Hui Song, Qing Gao, Yuchun Yan, Ran Tao, Ping Xiao, Long Li, Qian Jiang, Qi Li
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-10 (2020)
Abstract Background Currarino syndrome (CS) is a specific complex of congenital caudal anomalies, including anorectal malformations, presacral mass and sacral anomalies. Mutations in the MNX1 gene are closely related to CS and occur in almost all fam
Externí odkaz:
https://doaj.org/article/72fa081e9cb649a6850e03b08debbb70
Autor:
Joana Rosa, Patrícia Gaspar-Silva, Paula Pacheco, Conceição Silva, Cláudia C. Branco, Barbara S. Vieira, Alexandra Carreiro, Juan Gonçalves, Luisa Mota-Vieira
Publikováno v:
BMC Pediatrics, Vol 20, Iss 1, Pp 1-7 (2020)
Abstract Background Early diagnosis and treatment are improving significantly the quality of life of patients with cystic fibrosis (CF). This recessive disease is caused by a great variability of mutations in the CF transmembrane conductance (CFTR) g
Externí odkaz:
https://doaj.org/article/c97d98bfc42d42c29e1947cf7413dfb3
Autor:
Jan Smetana, Vladimira Vallova, Marketa Wayhelova, Eva Hladilkova, Hana Filkova, Vera Horinova, Petr Broz, Aneta Mikulasova, Renata Gaillyova, Petr Kuglík
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
Alport syndrome with intellectual disability (ATS-ID, AMME complex; OMIM #300194) is an X-linked contiguous gene deletion syndrome associated with an Xq22.3 locus mainly characterized by hematuria, renal failure, hearing loss/deafness, neurodevelopme
Externí odkaz:
https://doaj.org/article/553c39dc21554bb8bf291f2161880eb2
Publikováno v:
Frontiers in Pediatrics, Vol 9 (2021)
Background: X-linked hypophosphatemia (XLH) is the most frequent form of hypophosphatemic rickets and is caused by mutations in the PHEX gene. We analyzed genotype-phenotype correlations in XLH patients with proven PHEX mutations.Methods:PHEX mutatio
Externí odkaz:
https://doaj.org/article/e5025a8ad482445f860f7bc9ab6f13cc