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Prenatal care. Effectiveness and implementation. [PDF]
Archives of Disease in Childhood - Fetal and Neonatal Edition, 2000 Prenatal care. Effectiveness and implementation. Edited by Marie C McCormick and Joanna E Siegel [Pp363; £39.95] Cambridge University Press, 1999. ISBN 0-521-66196-X. After fifty years, my only real memory of the paediatrics teaching of Professor A V Neale in Bristol is the benefit to children of sunlight and the aphorism “Preconceptual and Prenatal ...
James A. McGarry
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Case report: genetic analysis of a novel frameshift mutation in FMR1 gene in a Chinese family
Frontiers in Genetics, 2023 Fragile X syndrome (FXS) [OMIM 300624] is a common X-linked inherited syndrome with an incidence only second to that of trisomy 21. More than 95% of fragile X syndrome is caused by reduced or absent fragile X intellectual disability protein 1 (FMRP ...
Chunlei Jin +7 more
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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 +8 more
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Integrated analysis of the transcriptome-wide m6A methylome in preeclampsia and healthy control placentas [PDF]
PeerJ, 2020 N6-methyladenosine (m6A) is the most prevalent modification in eukaryotic mRNA and potential regulatory functions of m6A have been shown by mapping the RNA m6A modification landscape. m6A modification in active gene regulation manifests itself as altered
Jin Wang +4 more
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A Beckwith-Wiedemann syndrome case with de novo 24 Mb duplication of chromosome 11p15.5p14.3
Molecular Cytogenetics, 2021 Background Molecular genetic testing for the 11p15-associated imprinting disorder Beckwith-Wiedemann syndrome (BWS) is challenging because of the molecular heterogeneity and complexity of the affected imprinted regions.
Huling Jiang +10 more
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Frontiers in Genetics, 2021 Objective: This study aimed to identify maternal circulating exosomal miRNAs as potential non-invasive biomarkers for the early detection of fetal ventricular septal defects (VSDs).Methods: In total, 182 pregnant women, comprising 91 VSD cases and 91 ...
Yuxia Jin +8 more
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Molecular Cytogenetics, 2023 Background Few co-occurrence cases of mosaic aneuploidy and uniparental disomy (UPD) chromosomes have been reported in prenatal periods. It is a big challenge for us to predict fetal clinical outcomes with these chromosome abnormalities because of their ...
Shengfang Qin +8 more
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Molecular Cytogenetics, 2023 Background Partial duplications involving the long arm of the X chromosome are associated with mental retardation, short stature, microcephaly, and a wide range of physical findings. Female carriers usually have no clinical phenotype.
Shengfang Qin +9 more
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Frontiers in Genetics, 2022 Spondyloepiphyseal dysplasia congenital (SEDC) is a rare chondrodysplasia caused by dominant pathogenic variants in COL2A1. Here, we detected a novel variant c.3392G > T (NM_001844.4) of COL2A1 in a Chinese family with SEDC by targeted next-generation
Lihong Fan +7 more
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