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[Clinical characteristics and pathogenic variant analysis in a pedigree with syndromic hearing loss caused by likely pathogenic variants in the gene].
Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi
December 2024
Department of Otorhinolaryngology, the Affiliated Children Hospital of Zhengzhou University, Zhengzhou450052, China.
To investigate the pathogenic variants and function of a pedigree with syndromic hearing loss using high-throughput sequencing. Detailed medical history and pedigree history were inquired, and a pedigree chart was drawn. Hearing examinations were performed on this pedigree, and whole-exome sequencing and bioinformatics analysis were performed to screen for suspected pathogenic variants.
View Article and Find Full Text PDF[Genetic analysis of children with nonsyndromic sensorineural hearing loss due to novel mutations/deletions of bialleles].
Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi
December 2024
Medical Genetics Center, Gansu Provincial Maternity and Child-care Hospital, Gansu Provincial Central Hospital, Lanzhou730050, China Gansu Provincial Clinical Research Center for Birth Defects and Rare Diseases, Lanzhou730050, China.
To investigate the clinical and genetic characteristics of nonsyndromic sensorineural hearing loss caused by biallelic variation. A child with hearing impairment who was diagnosed at Gansu Provincial Maternal and Child Health Hospital on May 2022 and was selected as the research object. Peripheral blood of the child and her parents was collected, genomic DNA was extracted.
View Article and Find Full Text PDFMutation Spectrum Analysis of BRCA1/2 Genes for Hereditary Breast and Ovarian Cancer in the Indian Population.
Asian Pac J Cancer Prev
December 2024
Department of Surgical Pathology and Molecular Biology, Global Reference Laboratory, Metropolis Healthcare Limited, Vidyavihar, Mumbai, Maharashtra, India.
Objective: The objective of this study was to determine the prevalence and spectrum of genetic mutations linked to inherited breast and ovary cancer (HBOC) in the Indian population, and to evaluate the correlation of BRCA mutation types, frequency, and incidence with age, gender, and personal and family history.
Methods: A retrospective cohort of 500 Indian HBOC patients, meeting NCCN criteria who underwent BRCA1/2 testing from 2017 to 2023 were shortlisted for this study. The anonymized data was retrieved from medical records.
Leber congenital amaurosis: A clinical and genetic study from a tertiary eye care center.
Indian J Ophthalmol
December 2024
Srimati Kanuri Santhamma Center for Vitreoretinal Diseases, Anant Bajaj Retina Institute, Kallam Anji Reddy Campus, L V Prasad Eye Institute, Hyderabad, Telangana, India.
Purpose: To assess the clinical phenotypes and genetic mutations in patients with Leber congenital amaurosis (LCA) from a tertiary eye care center in India.
Design: Retrospective observational study.
Methods: The study includes patients with a clinical diagnosis of LCA who underwent genetic testing from January 2016 to December 2021.
Uncertain significance and molecular insights of CPLANE1 variants in prenatal diagnosis of Joubert syndrome: a case report.
BMC Pregnancy Childbirth
December 2024
Department of Obstetrics, School of Medicine, Chengdu Women's and Children's Central Hospital, University of Electronic Science and Technology of China, Chengdu, China.
Background: Prenatal whole exome sequencing (WES) is becoming an increasingly used diagnostic tool for fetuses with structural anomalies. However, the identification of variants of uncertain significance (VUS) in clinically relevant genes can significantly complicate prenatal diagnosis and genetic counseling.
Case Presentation: A fetus conceived through in vitro fertilization at the third attempt presented with polydactyly and molar tooth sign at 24 + 6 weeks of gestation.
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