Results 1 to 10 of about 1,395,753 (295)

Comparison of the combined use of CNV-seq and karyotyping or QF-PCR in prenatal diagnosis: a retrospective study

Scientific Reports, 2023
To elevate the accuracy of diagnostic results, CNV-seq is usually performed simultaneously with karyotyping or QF-PCR. Although several studies have investigated the performance of the combined use of CNV-seq with karyotyping or QF-PCR, there have been ...
Hao Zhang, Zhihong Xu, Quan Chen, Huijuan Chen, Xiaoli Ding, Lin Liu, Yuanyuan Xiao   +6 more
doaj   +1 more source

Recommendation of premarital genetic screening in the Syrian Jewish community based on mutation carrier frequencies within Syrian Jewish cohorts

Molecular Genetics & Genomic Medicine, 2021
Background There is a paucity of information available regarding the carrier frequency for autosomal recessive pathogenic variants among Syrian Jews. This report provides data to support carrier screening for a group of autosomal recessive conditions ...
David A. Zeevi, Wendy K. Chung, Chaim Levi, Sholem Y. Scher, Rachel Bringer, Yael Kahan, Hagit Muallem, Rinat Benel, Yoel Hirsch, Tzvi Weiden, Ahron Ekstein, Josef Ekstein   +11 more
doaj   +1 more source

Human Genetic Diseases [PDF]

BioMed Research International, 2015
There is no question that the rapid advance in genetic technology is changing our viewpoint on medical practice, which is dramatically improving the diagnosis, prognosis, and therapy of human genetic disease. In particular, the next-generation sequencing (NGS) technologies, such as exome sequencing and whole-genome sequencing, and gene editing ...
Hao Deng, Peter Riederer, Han-Xiang Deng, Weidong Le, Wei Xiong, Yi Guo   +5 more
openaire   +2 more sources

Quality of life status determinants in hypertrophic cardiomyopathy as evaluated by the Kansas City Cardiomyopathy Questionnaire

Health and Quality of Life Outcomes, 2020
Purpose The present study evaluated how heart failure (HF) negatively impacts health-related quality of life (HRQoL) in hypertrophic cardiomyopathy (HCM) patients and explored the major clinical determinants associated with HRQoL impairment in this ...
Razvan Capota, Sebastian Militaru, Alin Alexandru Ionescu, Monica Rosca, Cristian Baicus, Bogdan Alexandru Popescu, Ruxandra Jurcut   +6 more
doaj   +1 more source

Topologically Associating Domains and Regulatory Landscapes in Development, Evolution and Disease

Frontiers in Cell and Developmental Biology, 2021
Animal genomes are folded in topologically associating domains (TADs) that have been linked to the regulation of the genes they contain by constraining regulatory interactions between cis-regulatory elements and promoters. Therefore, TADs are proposed as
Juan J. Tena, José M. Santos-Pereira
doaj   +1 more source

Sequential application of copy number variation sequencing and quantitative fluorescence polymerase chain reaction in genetic analysis of miscarriage and stillbirth

Molecular Genetics & Genomic Medicine, 2023
Background Copy number variation sequencing (CNV‐seq) could detect most chromosomal abnormalities except polyploidy, and quantitative fluorescence polymerase chain reaction (QF‐PCR) is a supplementary method to CNV‐seq in triploid detection.
Quan Chen, Hao Zhang, Xue Li, Junxing Li, Huijuan Chen, Lin Liu, Shijie Zhou, Zhihong Xu   +7 more
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Familial dysbetalipoproteinemia: highly atherogenic and underdiagnosed disorder

Кардиоваскулярная терапия и профилактика, 2021
Familial dysbetalipoproteinemia (FD) is a genetic, highly atherogenic disorder. The penetrance of FD depends on the patient’s lifestyle and concomitant diseases. Despite the fact that FD was described almost half a century ago, it is still insufficiently
A. V. Blokhina, A. I. Ershova, A. N. Meshkov, O. M. Drapkina   +3 more
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Case Report: Identification of Polygenic Mutations by Exome Sequencing

Frontiers in Pediatrics, 2021
The discovery of rare genetic variation through different gene sequencing methods is a very challenging subject in the field of human genetics. A case of a 1-year-old boy with metabolic acidosis and hypokalemia, a small penis, growth retardation, and G ...
Yanfeng Liu, Zhongshi Zheng, Qingling Zhu   +2 more
doaj   +1 more source

Ataxia in children: think about vitamin E deficiency ! (comment on: ataxia in children: early recognition and clinical evaluation)

Italian Journal of Pediatrics, 2017
A recent article from Pavone et al. published in the Italian Journal of Pediatrics entitled «Ataxia in children: early recognition and clinical evaluation» made an exhaustive overview of the large spectrum of pediatric ataxias.
H. Rahmoune, N. Boutrid, M. Amrane, M. C. Chekkour, B. Bioud   +4 more
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Fabry disease, do we think enough about this multisystemic disorder?: A presentation of three cases in a Serbian family [PDF]

Vojnosanitetski Pregled, 2012
Background. Fabry Disease is a rare, X-chromosomal inherited lysosomal storage disease with a consequent intracellular accumulation of neutral glycosphingolipids in various tissues.
Sakač Dejan, Koraćević Goran, Pavlica Tatjana, Sekulić Slobodan   +3 more
doaj   +1 more source