Results 21 to 30 of about 199,361 (374)
Diagnostics, 2022 Chromoanagenesis is a phenomenon of highly complex rearrangements involving the massive genomic shattering and reconstitution of chromosomes that has had a great impact on cancer biology and congenital anomalies. Complex chromosomal rearrangements (CCRs)
Jui-Hung Yen +6 more
doaj +1 more source
Hereditary Cancer in Clinical Practice, 2023 Background In Japan, genetic testing, surveillance, and risk-reducing surgery for hereditary breast and ovarian cancer (HBOC) syndrome have been covered by the Japanese national insurance system since April 2020.
Aya Tanaka +9 more
doaj +1 more source
Pleomorphic rhabdomyosarcoma in a young adult harboring a novel germline MSH2 variant
Human Genome Variation, 2022 Most cases of rhabdomyosarcoma (RMS) are sporadic and not associated with the Lynch syndrome (LS) spectrum. We report a young adult patient with RMS and a family history of colorectal cancer.
Akimasa Tomida +9 more
doaj +1 more source
Journal of Translational Medicine, 2020 Background In the context of our Regional Program of Hereditary Cancer, individuals fulfilling the criteria are tested for germline mutations to subsequently establish the clinical management.
Carolina Velázquez +9 more
doaj +1 more source
Genetic counseling and testing practices for late-onset neurodegenerative disease: a systematic review [PDF]
, 2021 ObjectiveTo understand contemporary genetic counseling and testing practices for late-onset neurodegenerative diseases (LONDs), and identify whether practices address the internationally accepted goals of genetic counseling: interpretation, counseling ...
Crook, A +4 more
core +1 more source
Genetic counseling and diagnostic genetic testing for familial amyotrophic lateral sclerosis and/or frontotemporal dementia: A qualitative study of client experiences. [PDF]
, 2023 Genetic counseling and diagnostic genetic testing is part of the multidisciplinary care of people with amyotrophic lateral sclerosis (ALS, commonly called motor neurone disease, MND) and frontotemporal dementia (FTD).
Crook, A +3 more
core +1 more source
Discrepancy of Cytogenetic Analysis in Western and Eastern Taiwan
Pediatrics and Neonatology, 2013 This study aimed at investigating the results of second-trimester amniocyte karyotyping in western and eastern Taiwan, and identifying any regional differences in the prevalence of fetal chromosomal anomalies.
Yu-Hsun Chang +6 more
doaj +1 more source
Homozygous GRN mutations: unexpected phenotypes and new insights into pathological and molecular mechanisms [PDF]
Brain - A Journal of Neurology , Oxford University Press (OUP),
2020, 143 (1), pp.303-319, 2020 Homozygous mutations in the progranulin gene (GRN) are associated with neuronal ceroid lipofuscinosis 11 (CLN11), a rare lysosomal-storage disorder characterized by cerebellar ataxia, seizures, retinitis pigmentosa, and cognitive disorders, usually beginning between 13 and 25 years of age.
arxiv +1 more source
Counseling Customers: Emerging Roles for Genetic Counselors in the Direct-to-Consumer Genetic Testing Market [PDF]
, 2012 Individuals now have access to an increasing number of internet resources offering personal genomics services. As the direct-to-consumer genetic testing (DTC GT) industry expands, critics have called for pre- and post-test genetic counseling to be ...
Harris, A., Kelly, S., Wyatt, S.
core +3 more sources
Patient Perception of Negative Noninvasive Prenatal Testing Results
American Journal of Perinatology Reports, 2016 Objective To determine patient perception of residual risk after receiving a negative non-invasive prenatal testing result. Introduction Recent technological advances have yielded a new method of prenatal screening, non-invasive prenatal ...
A. Theresa Wittman +5 more
doaj +1 more source