Results 21 to 30 of about 3,229,696 (385)

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

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

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

Genetic issues in the diagnosis of dystonias [PDF]

, 2013
Dystonias are heterogeneous hyperkinetic movement disorders characterized by involuntary muscle contractions which result in twisting and repetitive movements and abnormal postures.
Petrucci S., Valente E. M.
core   +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

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

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

The new (liberal) eugenics [PDF]

, 2013
Despite the Nazi horrors, in 1953 the new eugenics was founded, when Watson and Crick postulated the double helix of DNA as the basis of chemical heredity.
Sfetcu, Nicolae
core   +2 more sources

A review and definition of ‘usual care’ in genetic counseling trials to standardize use in research

Journal of Genetic Counseling, 2020
The descriptor ‘usual care’ refers to standard or routine care. Yet, no formal definition exists. The need to define what constitutes usual care arises in clinical research.
B. Biesecker, Sarah E Lillie, L. Amendola, Katherine E. Donohue, K. East, A. K. Foreman, Marian J Gilmore, V. Greve, Billie Liangolou, Julianne M. O’Daniel, Jacqueline A. Odgis, Shannon Rego, Brad Rolf, S. Scollon, Sabrina A. Suckiel, Jamilyn M Zepp, Galen Joseph   +16 more
semanticscholar   +1 more source