Results 41 to 50 of about 390,058 (293)

Ocular Manifestation of CACNA1A Pathogenic Variants

Pediatric Neurology Briefs, 2016
Investigators from The Children's Hospital at Westmead in New South Wales; The Queensland University of Technology in Brisbane; Sydney Children's Hospital in New South Wales and Laboratoire de Genetique in Paris investigated children with a proven heterozygous missense pathogenic variant in the CACNA1A gene.
Karit Reinson, Katrin Õunap
openaire   +4 more sources

Adolescent triple-negative breast cancer with germline pathogenic variants in both BRCA1 and TP53 genes: A case report

Frontiers in Oncology, 2022
Almost 5-10% of breast cancer results from inherited genetic pathogenic variants. Patients with pathogenic variants in high-penetrance genes such as TP53, BRCA1 and BRCA2 are susceptible to breast cancer.
Dongmei Chen, Chenyang Zhang, Mengqi Yuan, Ying Zhang, Qing Liu, Donggui Wan   +5 more
doaj   +1 more source

A next-generation sequencing approach to identify gene mutations in early-and late-onset hypertrophic cardiomyopathy patients of an Italian cohort [PDF]

, 2016
Sequencing of sarcomere protein genes in patients fulfilling the clinical diagnostic criteria for hypertrophic cardiomyopathy (HCM) identifies a disease-causing mutation in 35% to 60% of cases.
Autore, Camillo, Bozzao, Cristina, Chessa, Luciana, Francia, Pietro, Germani, Aldo, Musumeci, Maria Beatrice, Pagannone, Erika, Pennacchini, Ermelinda, Piane, Maria, Rubattu, Speranza, Savio, Camilla, Volpe, Massimo   +11 more
core   +1 more source

Pathogenic Variants of the PHEX Gene

Endocrines, 2022
Twenty-five years ago, a pathogenic variant of the phosphate-regulating endopeptidase homolog X-linked (PHEX) gene was identified as the cause of X-linked hypophosphatemic rickets (XLH). Subsequently, the overproduction of fibroblast growth factor 23 (FGF23) due to PHEX defects has been found to be associated with XLH pathophysiology.
Yasuhisa Ohata, Yasuki Ishihara
openaire   +2 more sources

Prognostic tumor sequencing panels frequently identify germ line variants associated with hereditary hematopoietic malignancies

Blood Advances, 2018
: Next-generation sequencing (NGS)–based targeted gene capture panels are used to profile hematopoietic malignancies to guide prognostication and treatment decisions.
Michael W. Drazer, Sabah Kadri, Madina Sukhanova, Sushant A. Patil, Allison H. West, Simone Feurstein, Dalein A. Calderon, Matthew F. Jones, Caroline M. Weipert, Christopher K. Daugherty, Adrián A. Ceballos-López, Gordana Raca, Mark W. Lingen, Zejuan Li, Jeremy P. Segal, Jane E. Churpek, Lucy A. Godley   +16 more
doaj   +1 more source

Predictive impact of rare genomic copy number variations in siblings of individuals with autism spectrum disorders. [PDF]

, 2019
Identification of genetic biomarkers associated with autism spectrum disorders (ASDs) could improve recurrence prediction for families with a child with ASD.
Brian, J, Bryson, SE, Buchanan, JA, D'Abate, L, Davies, RW, Dobkins, K, Howe, J, Landa, R, Leef, J, Messinger, D, Ozonoff, S, Scherer, SW, Smith, IM, Stone, WL, Tammimies, K, Thiruvahindrapuram, B, Walker, S, Warren, ZE, Wei, J, Young, G, Yuen, RKC, Zwaigenbaum, L   +21 more
core   +2 more sources

AmazonForest: In-silico Meta-Prediction of Pathogenic Variants

Biology, 2020
ClinVar is a web platform that stores around 774k curated entries, which allows exploring genetic variants and their associations with complex phenotypes. A partial set of ClinVar’s genetic associations were reported with conflict of interpretation or uncertain clinical impact significance, which currently challenges clinicians and ...
Helber Gonzales Almeida Palheta, Wanderson Gonçalves Gonçalves, Leonardo Miranda Brito, Arthur Ribeiro dos Santos, Marlon dos Reis Matsumoto, Ândrea Ribeiro-dos-Santos, Gilderlanio Santana de Araújo   +6 more
openaire   +4 more sources

Multi-gene panel testing for hereditary cancer predisposition in unsolved high-risk breast and ovarian cancer patients. [PDF]

, 2017
PurposeMany women with an elevated risk of hereditary breast and ovarian cancer have previously tested negative for pathogenic mutations in BRCA1 and BRCA2. Among them, a subset has hereditary susceptibility to cancer and requires further testing.
Adams, Sophie B, Chan, Salina, Crawford, Beth, Gil, Elad, Leitner, Ofri, Ryan, Lauren, Sittler, Taylor, van 't Veer, Laura, van den Akker, Jeroen   +8 more
core   +1 more source

Screening for SH3TC2, PMP2, and BSCL2 Variants in a Cohort of Chinese Patients with Charcot-Marie-Tooth

Chinese Medical Journal, 2018
Background: SH3TC2, PMP2, and BSCL2 genes are related to autosomal recessive (AR) Charcot-Marie-Tooth (CMT) disease type 1, autosomal dominant (AD)-CMT1, and AD-CMT2, respectively.
Xin Zhao, Ming-Ming Jiang, Yi-Zhou Yan, Lei Liu, Yong-Zhi Xie, Xiao-Bo Li, Zheng-Mao Hu, Xiao-Hong Zi, Kun Xia, Bei-Sha Tang, Ru-Xu Zhang   +10 more
doaj   +1 more source

Low-Pathogenicity Variant of Lymphocytic Choriomeningitis Virus [PDF]

Infection and Immunity, 1973
A noncytopathic virus has been isolated from a line of strain L mouse fibroblasts infected with lymphocytic choriomeningitis (LCM). This virus has low pathogenicity for mice and renders them immune to intracerebral challenge with virulent LCM virus.
J, Hotchin, E, Sikora
openaire   +2 more sources