Results 31 to 40 of about 2,588,889 (202)

Identification and verification of potential biomarkers in sertoli cell-only syndrome via bioinformatics analysis

Scientific Reports, 2023
Sertoli cell-only syndrome (SCOS), a severe testicular spermatogenic failure, is characterized by total absence of male germ cells. To better expand the understanding of the potential molecular mechanisms of SCOS, we used microarray datasets from the ...
Yuting Jiang, Xiao Yang, Linlin Li, Xin Lv, Ruixue Wang, Hongguo Zhang, Ruizhi Liu   +6 more
doaj   +1 more source

The Italian guidelines on non-invasive and invasive prenatal diagnosis: Executive summary of recommendations for practice the Italian Society for Obstetrics and Gynecology (SIGO) [PDF]

The Italian guidelines on non-invasive and invasive prenatal diagnosis: Executive summary of recommendations for practice the Italian Society for Obstetrics and Gynecology ...
Elvira Di Pasquo, Working Group on Non-invasive Prenatal Diagnosis, Chiara Formigoni, Marco De Santis, Working Group on Invasive Prenatal Diagnosis, Working Group Secretariat, Tiziana Frusca, Maurizio Guido, Tamara Stampalija, Moira Barbieri, Panel of Experts Delegated by Scientific Societies and Stakeholders, Promoting Committee, External Auditors, Tullio Ghi, Enrico M Ferrazzi, M Morlando, Chair and Methodological Group   +16 more
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Whole exome sequencing identified a novel compound heterozygous variation in COL7A1 gene causing dystrophic epidermolysis bullosa

Molecular Genetics & Genomic Medicine, 2022
Dystrophic epidermolysis bullosa (DEB) is a series of severe genetic conditions affecting skin and nails caused by mutations in the COL7A1 gene. DEB has a strong phenotypic variability.
Li‐min Cui, Jian‐ye Jiang, Ning‐ning Hu, Hong‐en Zou, Bao‐zhen Zhao, Cong‐ying Han, Kai Yang, Yi‐peng Wang, Huan‐xia Xing   +8 more
doaj   +1 more source

A rare Down syndrome foetus with de novo 21q;21q rearrangements causing false negative results in non-invasive prenatal testing: a case report

BMC Medical Genomics, 2020
Background Non-invasive prenatal testing (NIPT) has been established as a routine prenatal screening to assess the risk of common foetal aneuploidy disorder (trisomy 21, 18, and 13).
Hui-Hui Xu, Mei-Zhen Dai, Kai Wang, Yang Zhang, Fei-Yan Pan, Wei-Wu Shi   +5 more
doaj   +1 more source

Prenatal diagnosis of Aicardi syndrome based on a suggestive imaging pattern: A multicenter case‐series

, 2022
Objectives To characterize a suggestive prenatal imaging pattern of Aicardi syndrome using ultrasound and MR imaging. Methods Based on a retrospective international series of Aicardi syndrome cases from tertiary centers encountered over a 20-year ...
Yvan Vial, Klaritsch, Philipp, Prayer, Florian, Baud, D., Sebastián Gacio, Gacio, S., Bromley, Bryann, Haratz, Karina, Haratz, K., Ochoa, José, Van Mieghem, Tim, Galmiche, A., Van Mieghem, T., Karina Haratz, Huisman, TAGM, Dario Paladini, Sara Cabet, Galmiche, Aurore, Malinger, G., Cabet, S., Philipp Klaritsch, Cabet, Sara, Paladini, D., Malinger, Gustavo, Vial, Y., Gacio, Sebastián, Dubruc, E., Pomar, Léo, Dubruc, Estelle, Florian Prayer, Guibaud, L., Huisman, Thierry A. G. M., David Baud, Ochoa, J., Aurore Galmiche, Laurent Guibaud, Thierry A. G. M. Huisman, Estelle Dubruc, Gustavo Malinger, Pomar, L., Klaritsch, P., Bromley, B., José Ochoa, Bryann Bromley, Lebon, S., Paladini, Dario, Prayer, F., Guibaud, Laurent, Baud, David, Sébastien Lebon, Vial, Yvan, Tim Van Mieghem, Léo Pomar, Lebon, Sébastien   +53 more
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Prenatal diagnosis of Myhre syndrome with a heterozygous pathogenic variant in SMAD4 gene presented with thick nuchal translucency and cardiac abnormalities [PDF]

, 2023
Prenatal testing was performed in a 39-year-old Chinese pregnant woman referred for increased nuchal translucency measuring 5.7 mm. Non-invasive prenatal testing and SNP array study on amniotic fluid samples were normal.
Luk, HM, Hui, PW, Lau, EYT, Mok, YK, Au, SLK, Chung, B, Kan, ASY   +6 more
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Unveiling Hidden Genetic Architectures: Molecular Diagnostic Yield of Whole Exome Sequencing in 50 Children With Autism Spectrum Disorder Negative for Copy Number Variations

Genetics Research
Autism spectrum disorders (ASDs) are heterogeneous neurodevelopmental conditions with complex genetic etiologies. Recent advances in whole exome sequencing (WES) have enabled comprehensive detection of clinically relevant variants, particularly single ...
Zhiwei Wang, Yali Zhao, Shuting Yang, Yongan Wang, Leilei Wang   +4 more
doaj   +1 more source

Case Report: Exome Sequencing Identified a Novel Compound Heterozygous Variation in PLOD2 Causing Bruck Syndrome Type 2

Frontiers in Genetics, 2021
Bruck Syndrome (BRKS) is a rare type of recessive osteogenesis imperfecta (OI) and consists of two subtypes, BRKS1 and BRKS2, which are caused by variations in FKBP10 and PLOD2 genes, respectively.
Jing Zhang, Huaying Hu, Huaying Hu, Weihong Mu, Mei Yu, Wenqi Chen, Dongqing Mi, Kai Yang, Qing Guo   +8 more
doaj   +1 more source

Prenatal diagnosis of rearrangements in the fetal 22q11.2 region

Molecular Cytogenetics, 2020
Background 22q11.2 deletion syndrome (22q11.2DS) and 22q11.2 duplication syndrome (22q11.2DupS) are the most common copy number variations in humans. The clinical phenotypes of these two syndromes are variable, and there are no large sample data on the ...
Suping Li, Yuxia Jin, Jing Yang, Li Yang, Ping Tang, Chiyan Zhou, Liping Wu, Jinhua Dong, Jie Chen, Huaxiang Shen   +9 more
doaj   +1 more source

Congenital heart anomalies in the first trimester: From screening to diagnosis

, 2023
Congenital heart defects occur in approximately 1% of liveborn children and represent the most common form of congenital malformation. Due to the small size and complexity of the heart structures, prenatal diagnosis is most often made in the second ...
Simon Meagher, Meagher, S., Eperon, I., Wawrzyniec Rieder, Isabelle Eperon, Rieder, W.   +5 more
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