Results 31 to 40 of about 3,117,325 (331)

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, I. S. Kleimenova, T. V. Fedotova, D. S. Stepanov, E. A. Proskurina, E. Yu. Zakharova   +5 more
doaj   +1 more source

Characteristics of breast cancer in BRCA1/BRCA2 mutation carriers and non-carriersfrom a genetic counseling unit in Croatia

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, Gabriela Alfier, Iva Kirac, Ivan Milas, Tomislav Orešić   +4 more
doaj   +1 more source

Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer: US Preventive Services Task Force Recommendation Statement.

Journal of the American Medical Association (JAMA), 2019
Importance Potentially harmful mutations of the breast cancer susceptibility 1 and 2 genes (BRCA1/2) are associated with increased risk for breast, ovarian, fallopian tube, and peritoneal cancer.
D. Owens, K. Davidson, A. Krist, M. Barry, M. Cabana, A. Caughey, Chyke A Doubeni, J. Epling, Martha Y. Kubik, C. Landefeld, C. Mangione, L. Pbert, Michael Silverstein, M. Simon, Chien-Wen Tseng, J. Wong   +15 more
semanticscholar   +1 more source

Improving comprehension of genetic counseling for hereditary breast and ovarian cancer clients with a visual tool. [PDF]

PLoS ONE, 2018
OBJECTIVE:Genetic counseling and testing can be offered to individuals who are at high risk of carrying a breast cancer (BRCA) gene mutation. However, the content of genetic counseling could be difficult to understand due to complex medical information ...
Muy-Kheng M Tea, Yen Y Tan, Christine Staudigl, Birgit Eibl, Romana Renz, Ella Asseryanis, Andreas Berger, Georg Pfeiler, Christian F Singer   +8 more
doaj   +1 more source

Identification of a novel deletion within ALDH3A2 gene in an Iranian Family with Sjögren–Larsson Syndrome

Clinical Case Reports, 2018
Key Clinical Message Sjögren–Larsson syndrome (SLS) is a rare type of congenital ichthyosis with neurological problems and intellectual disability. Homozygous mutations in ALDH3A2 gene are known to be responsible for this syndrome.
Maryam Taghdiri, Atie Kashef, Majid Fardaei, Mohammad Miryounesi   +3 more
doaj   +1 more source

Genetic counseling

Jornal de Pediatria, 2008
The objective of this review of genetic counseling (GC) is to describe the current concepts and philosophical and ethical principles accepted by the great majority of countries and recommended by the World Health Organization, the stages of the process, its results and the psychological impact that a genetic disease has on a family.The concepts ...
openaire   +3 more sources

Mainstream consent programs for genetic counseling in cancer patients: A systematic review

Asia-Pacific Journal of Clinical Oncology, 2020
As demand for germline genetic testing for cancer patients increases, novel methods of genetic counseling are required. One such method is the mainstream consent pathway, whereby a member of the oncology team (rather than a genetic specialist) is ...
T. Scheinberg, A. Young, H. Woo, A. Goodwin, K. Mahon, L. Horvath   +5 more
semanticscholar   +1 more source

Gender Differences in Caring for Children with Genetic or Rare Diseases: A Mixed-Methods Study

Children, 2022
As a factor in parenting stress, gender differences in caring for children with genetic or rare diseases warrant research attention; therefore, this study explored gender differences in parenting stress, health outcomes, and illness perceptions among ...
Shao-Yin Chu, Chin-Chen Wen, Chun-Ying Weng   +2 more
doaj   +1 more source

Predictive Genetic Counseling for Neurodegenerative Diseases: Past, Present, and Future.

Cold Spring Harbor Perspectives in Medicine, 2020
Predictive genetic counseling for neurodegenerative diseases commenced with Huntington's disease (HD). Because the psychological issues and outcomes have been best studied in HD, the HD genetic counseling and testing protocol is still accepted as the ...
J. Goldman
semanticscholar   +1 more source

A familial case of segregation of motor sensory neuropathy type 1B with multiple exostoses in monozygous twins

Нервно-мышечные болезни, 2015
Hereditary motor-sensory neuropathy (MIM 118200) is a rare genetic variant of myelinopathy with autosomal-dominant type of inheritance. Multiple exostosis bones are signs of multiple exostoses chondrodysplasia, genetically heterogeneous form of systemic ...
V. P. Fedotov, S. A. Kurbatov, S. S. Nikitin, T. B. Milovidova, N. M. Galeeva, A. V. Polyakov   +5 more
doaj   +1 more source