Results 11 to 20 of about 3,055,534 (337)
Journal of Genetic Counseling, 2021 There are no evidence‐based guidelines to inform genetic counseling for consanguineous couples and their offspring. This focused revision builds on the expert opinions from the original publication of "Genetic Counseling and Screening of Consanguineous ...
R. Bennett +4 more
semanticscholar +1 more source
Scaling Genetic Counseling in the Genomics Era.
Annual review of genomics and human genetics (Print), 2021 The development of massively parallel sequencing-based genomic sequencing tests has increased genetic test availability and access. The field and practice of genetic counseling have adapted in response to this paradigm-shifting technology and the ...
L. Amendola +2 more
semanticscholar +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
Journal of Genetic Counseling, 2022 Epilepsy, defined by the occurrence of two or more unprovoked seizures or one unprovoked seizure with a propensity for others, affects 0.64% of the population and can lead to significant morbidity and mortality.
Lacey Smith +6 more
semanticscholar +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
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
Libri Oncologici, 2020 Breast cancer (BC) represents 25% of all malignancies in Croatian women, and in 18.8% of cases, it is diagnosed before the age of 50. Croatia launched BRCA testing of people at increased family risk.
Snježana Ramić +4 more
doaj +1 more source
Impact of genetic counseling and Connexin-26 and Connexin-30 testing on deaf identity and comprehension of genetic test results in a sample of deaf adults: a prospective, longitudinal study. [PDF]
PLoS ONE, 2014 Using a prospective, longitudinal study design, this paper addresses the impact of genetic counseling and testing for deafness on deaf adults and the Deaf community.
Christina G S Palmer +3 more
doaj +1 more source
Infantile-onset Pompe disease (the first case diagnosed in Voronezh)
Нервно-мышечные болезни, 2015 Pompe disease (PD), or glycogen storage disease type II, is a rare autosomal recessive lysosomal disease caused by glycogen storage in the myocardium, skeletal muscles, and liver.
V. P. Fedotov +5 more
doaj +1 more source
Genetic counseling in melanoma [PDF]
Dermatologic Therapy, 2012 Genetic counseling may be offered to families with melanoma and to individuals with multiple melanomas to better understand the genetic susceptibility of the disease, the influence of environmental factors, the inheritance of the risk, and behavior that decreases the risk of dying from melanoma, including specific dermatological follow-up such as total
Badenas Orquin, Celia +5 more
openaire +4 more sources