Results 31 to 40 of about 3,482,680 (357)

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

Cancer genetic counseling.

Revista de la Facultad de Ciencias Médicas de Córdoba, 2018
La asesoría genética en cáncer permite reducir la morbimortalidad en pacientes con cáncer hereditario y sus familiares mediante un manejo multidisciplinario que establezca medidas preventivas, detección precoz y control de riesgos.
María del Carmen Castro Mujica, Claudia Fiorella Barletta Carrillo, Juan Carlos Gómez de la Torre Pretell   +2 more
doaj   +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

Who we are, what we do, and how we add value: The role of the genetic counseling ‘philosophy of practice’ statement in a changing time [PDF]

, 2020
As genetics and genomics are integrated into health care and non-genetic health professionals deliver aspects of genetic counseling, it is increasingly important for genetic counselors to be able to define who we are, what we do, and how we add value to ...
Alison McEwen, McEwen, A, Chris Jacobs, Jacobs, C   +3 more
core   +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 ...
Jill S. Goldman
semanticscholar   +1 more source

Health Beliefs and Behaviors of Women Who Have Received Genetic Counseling For Breast Cancer

, 2007
There are both genetic and behavioral risk factors for breast cancer, but the interaction between these factors is not clear. Little is known about the impact of receiving genetic risk information for breast cancer on behaviors such as diet and physical ...
Young, Mary-Anne, Gaff, Clara, Rees, Gwyneth, Martin, Paul R.   +3 more
core   +1 more source

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

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   +2 more sources

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