Results 21 to 30 of about 207,733 (353)

Non-syndromic Sensorineural Prelingual Deafness: The Importance of Genetic Counseling in Demystifying Parents’ Beliefs About the Cause of Their Children’s Deafness [PDF]

, 2013
Recent advances in molecular genetics have allowed the determination of the genetic cause of some childhood non-syndromic deafness. In Portugal only a small proportion of families are referred to a clinical genetics service in order to clarify the ...
A Middleton, AG Steinberg, C James, CGS Palmer, Cláudia Reis, E Cabrera, Fidjy Rodrigues, G Kaimal, J Weil, J Weil, Jorge Saraiva, Jorge Sequeiros, JW Brunger, K Kelly, KA Withrow, M Somer, Margarida Venâncio, Milena Paneque, MJ Seidenfeld, O Dagan, S Abe, S Kessler, S Michie, W Lenhard, Y Li   +24 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

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

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

Patient responses to genetic information: Studies of patients with hereditary cancer syndromes identify issues for use of genetic testing in nephrology practice [PDF]

, 2010
Advances in the genetic basis of kidney disease may mean that genetic testing is increasingly important in reducing disease morbidity and mortality among patients.
Kaphingst, Kimberly A, McBride, Colleen M   +1 more
core   +2 more sources

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

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

The carboxylate “gripper” of the substrate is critical for C‐4 stereo‐inversion by UDP‐glucuronic acid 4‐epimerase

FEBS Letters, EarlyView.
UDP‐glucuronic acid 4‐epimerase (UGAepi) catalyzes NAD+‐dependent interconversion of UDP‐glucuronic acid (UDP‐GlcA) and UDP‐galacturonic acid (UDP‐GalA) via C4‐oxidation, 4‐keto‐intermediate rotation, and C4‐reduction. Here, Borg et al. examined the role of the substrate's carboxylate group in the enzymic mechanism by analyzing NADH‐dependent reduction
Annika J. E. Borg, Laura De Cnop, Bernd Nidetzky   +2 more
wiley   +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