Results 31 to 40 of about 3,229,696 (385)

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

Medical Genetic Counseling Of Women With Congenital Heart Diseases Of Fetus [PDF]

, 2019
Aim of the work. Determine the effectiveness of prenatal diagnosis of congenital heart defects in the fetus and the informativeness of different markers used in the medical-genetic counseling of pregnant women..Materials and methods.
Helner, N. (Nadiya), Makukh, H. (Halyna), Prokopchuk, N. (Natalia), Sharhorodska, Y. (Yevheniya)   +3 more
core   +3 more sources

Genetic Counseling for Neurofibromatosis 1, Neurofibromatosis 2, and Schwannomatosis—Practice Resource of the National Society of Genetic Counselors

Journal of Genetic Counseling, 2020
The goal of this practice resource is to provide genetic counselors and other healthcare professionals with a resource to reference when providing genetic counseling services to individuals and families undergoing evaluation for neurofibromatosis (NF) or
Heather B. Radtke, A. Bergner, Allison L Goetsch, Caroline McGowan, K. Panzer, Ashley Cannon   +5 more
semanticscholar   +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

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

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

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

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

Genetic counseling following direct‐to consumer genetic testing: Consumer perspectives

Journal of Genetic Counseling, 2020
As the use and scope of direct‐to‐consumer genetic testing (DTC GT), also becoming known as consumer‐driven genetic testing, increases, consumers may seek genetic counseling to understand their results and determine healthcare implications. In this study,
Tessa B. Marzulla, J. Roberts, R. DeVries, D. Koeller, R. Green, W. Uhlmann   +5 more
semanticscholar   +1 more source

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