Results 1 to 10 of about 3,117,325 (331)

Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer in Women: Updated Evidence Report and Systematic Review for the US Preventive Services Task Force.

Journal of the American Medical Association (JAMA), 2019
Importance Pathogenic mutations in breast cancer susceptibility genes BRCA1 and BRCA2 increase risks for breast, ovarian, fallopian tube, and peritoneal cancer in women; interventions reduce risk in mutation carriers.
H. Nelson, M. Pappas, A. Cantor, E. Haney, R. Holmes   +4 more
semanticscholar   +1 more source

Juvenile Huntington’s disease

Анналы клинической и экспериментальной неврологии, 2017
Juvenile Huntingtons disease (JHD) manifests in 1st2nddecades of life and accounts for 29% of all cases ofHuntingtons disease; its pathogenic mechanisms are related togenetic anticipation and imprinting.
G. E. Rudenskaya, D. A. Savvin, V. P. Fedotov, S. A. Kurbatov, A. V. Polyakov, N. M. Galeeva   +5 more
doaj   +1 more source

A systematic review of international guidelines and recommendations for the genetic screening, diagnosis, genetic counseling, and treatment of BRCA-mutated breast cancer

Cancer Management and Research, 2019
Purpose To conduct a systematic review of international guidelines on screening and management of patients with BRCA-mutated breast cancer (BC). Methods Major electronic databases (MEDLINE and Embase; N=8) and gray literature sources were searched ...
C. Forbes, D. Fayter, S. de Kock, R. Quek   +3 more
semanticscholar   +1 more source

Clinical and electromyographic criteria for the diagnosis of hereditary myotonic syndromes

Нервно-мышечные болезни, 2015
Hereditary myotonic syndromes (HMS) are a group of genetically heterogeneous diseases of the chlorine and sodium ion channels (channelopathies) with evident clinical polymorphism and high prevalence in the population.
V. P. Fedotov, S. A. Kurbatov, E. A. Ivanova, N. M. Galeeva, A. V. Polyakov   +4 more
doaj   +1 more source

Barriers to the implementation of epilepsy genetic testing and counseling guidelines

Epilepsia Open
Objective In 2022, the National Society of Genetic Counselors (NSGC) published a practice guideline for genetic testing and counseling for unexplained epilepsy.
Sophie Melly, Amanda L. Bergner, Tristan Sands, Natalie Lippa, Maureen Mulhern   +4 more
doaj   +1 more source

The Global State of the Genetic Counseling Profession

European Journal of Human Genetics, 2018
The profession of genetic counseling (also called genetic counselling in many countries) began nearly 50 years ago in the United States, and has grown internationally in the past 30 years.
M. Abacan, Lamia Alsubaie, K. Barlow-Stewart, Beppy Caanen, C. Cordier, Eliza Courtney, Emeline L Davoine, J. Edwards, N. Elackatt, K. Gardiner, Yue Guan, Lian-Hua Huang, Charlotta Ingvoldstad Malmgren, Sahil Kejriwal, Hyon J. Kim, D. Lambert, Paulina Araceli Lantigua-Cruz, J. M. Lee, M. Lodahl, Åshild Lunde, S. Macaulay, I. Macciocca, Sonia Margarit, A. Middleton, R. Moldovan, J. Ngeow, A. Obregon-Tito, K. Ormond, M. Paneque, Karen Powell, Kunal Sanghavi, Diana Scotcher, Jenna Scott, Clara Serra Juhé, S. Shkedi-Rafid, Tina-Marié Wessels, S. Yoon, C. Wicklund   +37 more
semanticscholar   +1 more source

Aconselhamento genético Genetic counseling

Jornal de Pediatria, 2008
OBJETIVO: Esta revisão sobre aconselhamento genético (AG) teve o objetivo de mostrar os conceitos atuais e os princípios filosóficos e éticos aceitos na grande maioria dos países e recomendados pela Organização Mundial da Saúde, as fases do processo ...
João Monteiro de Pina-Neto
doaj   +1 more source

Cancer genetic counselling

Annals of Oncology, 2005
No abstract ...
MANDICH P, CAVALLI P, PASINI, Barbara
openaire   +4 more sources

Evidence-Based Genetic Counseling for Psychiatric Disorders: A Road Map.

Cold Spring Harbor Perspectives in Medicine, 2019
Psychiatric disorders, such as schizophrenia, depression, anxiety, and bipolar disorder, are common conditions that arise as a result of complex and heterogeneous combinations of genetic and environmental factors.
J. Austin
semanticscholar   +1 more source

A qualitative study of barriers to genetic counseling and potential for mobile technology education among women with ovarian cancer

Hereditary Cancer in Clinical Practice, 2018
Background National guidelines recommend genetic counseling for all ovarian cancer patients because up to 20% of ovarian cancers are thought to be due to hereditary cancer syndromes and effective cancer screening and prevention options exist for at-risk ...
Rachel Isaksson Vogel, Kristin Niendorf, Heewon Lee, Sue Petzel, Hee Yun Lee, Melissa A. Geller   +5 more
doaj   +1 more source