Results 1 to 10 of about 156,253 (302)

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, Xiangdong Zhang, Qiang Lei, Penglong Chen, Hui Hu, Shuangshuang Shen, Jiao Liu, Shixuanbao Ye   +7 more
doaj   +1 more source

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 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, Zepeng Ping, Jianguo Wang, Xiaodan Liu, Yuxia Jin, Suping Li, Chiyan Zhou, Pinghua Huang, Yi Jin, Ling Ai, Jie Chen   +10 more
doaj   +1 more source

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, Fengchun Gao, Xiaohan Zhao, Yan Cai, Hua Jin   +4 more
doaj   +2 more sources

Maternal Circulating Exosomal miRNAs as Non-invasive Biomarkers for the Prediction of Fetal Ventricular Septal Defect

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, Ling Ai, Xiaojun Chai, Ping Tang, Weihua Zhang, Li Yang, Yue Hu, Ying Xu, Suping Li   +8 more
doaj   +1 more source

Prenatal diagnosis of mosaic chromosomal aneuploidy and uniparental disomy and clinical outcomes evaluation of four fetuses

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, Xueyan Wang, Jin Wang, Na Xi, Mengjia Yan, Yuxia He, Mengling Ye, Zhuo Zhang, Yan Yin   +8 more
doaj   +1 more source

The Impact of Prenatal Care on the Prevention of Neonatal Outcomes: A Systematic Review and Meta-Analysis of Global Health Interventions [PDF]

Healthcare (Basel)
Mohammed Albarqi
openalex   +2 more sources

Delineation of an inverted tandem Xq23-26.3 duplication in a female featuring extremely short stature and mild mental deficiency

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, Jiuzhi Zeng, Jin Wang, Mengling Ye, Qin Deng, Xueyan Wang, Zhuo Zhang, Dangying Yi, Yang Wu, Jesse Li-Ling   +9 more
doaj   +1 more source

Maternal and Fetal Outcomes in Women with Diabetes in Pregnancy Treated before and after the Introduction of a Standardized Multidisciplinary Management Protocol

Journal of Diabetes Research, 2021
Background. Diabetes in pregnancy is associated with an increased risk to the woman and to the developing fetus. Currently, there is no consensus on the optimal management strategies for the follow-up and the timing of delivery of pregnancies affected by
Maddalena Morlando, Fabiana Savoia, Anna Conte, Antonio Schiattarella, Marco La Verde, Michela Petrizzo, Mauro Carpentieri, Carlo Capristo, Katherine Esposito, Nicola Colacurci   +9 more
doaj   +1 more source

Beyond Intentionality: A Latent Class Analysis of Barriers to Prenatal Care in an Explanatory Mixed Methods Study [PDF]

Healthcare (Basel)
John Kwame Duah
openalex   +3 more sources