Results 1 to 10 of about 2,355,082 (334)

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

Assessing the knowledge and awareness of the Taif community about genetic diseases

Journal of Biochemical and Clinical Genetics, 2022
Background: Diseases have a genetic basis, wherein changes in the human deoxyribonucleic acid and variances in its activities, which the environment may influence, contribute to disease processes.
Ghaliah Alnefaie, Atheer Alfuhayd, Majed Bahader, Razan Alhumyani, Abdulhameed Sarriyah, Atheer Alshanbari, Kholood Althobaiti   +6 more
doaj   +1 more source

Genetics of Alzheimer's Disease [PDF]

Neurotherapeutics, 2014
The analyses of genetic factors contributing to Alzheimer's disease (AD) and other dementias have evolved at the same pace as genetic and genomic technologies are developed and improved. The identification of the first genes involved in AD arose from family-based studies, but risk factors have mainly been identified by studies comparing groups of ...
Guerreiro, R, Hardy, J
openaire   +5 more sources

Presymptomatic risk assessment for chronic non-communicable diseases [PDF]

, 2010
The prevalence of common chronic non-communicable diseases (CNCDs) far overshadows the prevalence of both monogenic and infectious diseases combined. All CNCDs, also called complex genetic diseases, have a heritable genetic component that can be used for
AC Morrison, AJ MacGregor, AS Daar, Badri Padhukasahasram, C Kyogoku, C Tysk, CG Loftus, D Bentley, Daryl J. Thomas, DE Reich, Dietrich A. Stephan, E Zeggini, EF Remmers, Elana Silver, Eran Halperin, Heather Trumbower, JC Barrett, Jennifer Wessel, JK Pritchard, JM Chan, JT Salonen, KM Narayan, KM Small, LB Lusted, LJ Scott, MF Doran, Michele Cargill, MS Sandhu, NR Wray, O Kempthorne, Q Lu, Q Yang, R King, S Kathiresan, Thorkild I. A. Sorensen   +34 more
core   +9 more sources

Consanguinity, awareness, and genetic disorders among female university students in Riyadh, Saudi Arabia

Journal of Biochemical and Clinical Genetics, 2021
Background: There is a high rate of consanguinity and related genetic diseases in the general population of Saudi Arabia. Studies have been conducted to address the level of awareness about consanguineous marriages (CM); however, targeted young female ...
Hadil Alahdal, Huda Alshanbari, Hana Saud Almazroa, Sarah Majed Alayesh, Alaa Mohammad Alrhaili, Nora Alqubi, Fai Fahad Alzamil, Reem Albassam   +7 more
doaj   +1 more source

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

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
doaj   +1 more source

Protein Mutations and Stability, a Link with Disease: The Case Study of Frataxin

Biomedicines, 2022
Protein mutations may lead to pathologies by causing protein misfunction or propensity to degradation. For this reason, several studies have been performed over the years to determine the capability of proteins to retain their native conformation under ...
Rita Puglisi
doaj   +1 more source

Clinical and genetic characteristics of adult cerebral adrenoleukodystrophy

Shanghai Jiaotong Daxue xuebao. Yixue ban, 2023
Objective·To summarize and analyze the clinical and genetic characteristics of adult cerebral adrenoleukodystrophy(ACALD ).Methods·The data of eight patients with ACALD who attended the Shanghai Sixth People′s Hospital, Shanghai Jiao Tong University ...
LIU Taotao, LIU Xiaoli, WU Jingying, NI Ruilong, ZHANG Mengyuan, JI Duxin, ZHANG Mei, CAO Li   +7 more
doaj   +1 more source