Results 41 to 50 of about 3,120,324 (401)

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

Personalized Genetic Risk Counseling to Motivate Diabetes Prevention: A randomized trial [PDF]

, 2014
OBJECTIVE To examine whether diabetes genetic risk testing and counseling can improve diabetes prevention behaviors. RESEARCH DESIGN AND METHODS We conducted a randomized trial of diabetes genetic risk counseling among overweight patients at increased ...
Bissett, Laurie G., Delahanty, Linda M., Florez, Jose C., Grant, Richard W., Green, Robert C., Guiducci, Candace, Meigs, James B., O’Brien, Kelsey E., Park, Elyse R., Stember, Katherine G., Vassy, Jason L., Waxler, Jessica L.   +11 more
core   +1 more source

Evidence‐based consensus guidelines for ALS genetic testing and counseling

Annals of Clinical and Translational Neurology, 2023
Objective Advances in amyotrophic lateral sclerosis (ALS) gene discovery, ongoing gene therapy trials, and patient demand have driven increased use of ALS genetic testing. Despite this progress, the offer of genetic testing to persons with ALS is not yet
Jennifer Roggenbuck, Breda H. F. Eubank, Joshua Wright, Matthew B. Harms, Stephen J. Kolb, the ALS Genetic Testing and Counseling Guidelines Expert Panel   +5 more
doaj   +1 more source

Parental Attitudes toward Genetic Testing for Pediatric Deafness [PDF]

, 2000
Recent molecular genetic advances have resulted in genetic testing becoming an option for deaf individuals and their families. However, there is little information about the interest in such testing. To investigate this issue, parents with normal hearing
Brunger, Jeanne Weir, Matthews, Anne L., Murray, Gail S., O’Riordan, Maryann, Robin, Nathaniel H., Smith, Richard J.H.   +5 more
core   +7 more sources

FoxO1 signaling in B cell malignancies and its therapeutic targeting

FEBS Letters, EarlyView.
FoxO1 has context‐specific tumor suppressor or oncogenic character in myeloid and B cell malignancies. This includes tumor‐promoting properties such as stemness maintenance and DNA damage tolerance in acute leukemias, or regulation of cell proliferation and survival, or migration in mature B cell malignancies.
Krystof Hlavac, Petra Pavelkova, Laura Ondrisova, Marek Mraz   +3 more
wiley   +1 more source

Genetic counseling for pre-implantation genetic testing of monogenic disorders (PGT-M)

Frontiers in Reproductive Health, 2023
Pre-implantation genetic testing (PGT) is a vital tool in preventing chromosomal aneuploidies and other genetic disorders including those that are monogenic in origin. It is performed on embryos created by intracytoplasmic sperm injection (ICSI). Genetic
Firuza Parikh, Arundhati Athalye, Prochi Madon, Meenal Khandeparkar, Dattatray Naik, Rupesh Sanap, Anuradha Udumudi   +6 more
doaj   +1 more source

Refining the NaV1.7 pharmacophore of a class of venom‐derived peptide inhibitors via a combination of in silico screening and rational engineering

FEBS Letters, EarlyView.
Venom peptides have shown promise in treating pain. Our study uses computer screening to identify a peptide that targets a sodium channel (NaV1.7) linked to chronic pain. We produced the peptide in the laboratory and refined its design, advancing the search for innovative pain therapies.
Gagan Sharma, Jennifer R. Deuis, Xinying Jia, Theo Crawford, Sassan Rahnama, Eivind A. B. Undheim, Irina Vetter, Yanni K. ‐Y. Chin, Mehdi Mobli   +8 more
wiley   +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

Knowledge assessment and psychological impact of genetic counseling in people at risk for familial FTD

Alzheimer’s & Dementia: Diagnosis, Assessment & Disease Monitoring, 2021
Introduction The decision to undergo genetic testing for familial frontotemporal dementia (fFTD) is challenging and complex. When counseling individuals, clinicians need to know what individuals understand about the type of fFTD for which they may be at ...
Bonnie Wong, Diane Lucente, Samantha Krivensky, Erin Krahn, Jason Karlawish, Bradford C. Dickerson   +5 more
doaj   +1 more source

COUNSELING IN MEDICAL GENETICS

The Journal of Nervous and Mental Disease, 1955
Mode of access: Internet.
openaire   +5 more sources