Results 31 to 40 of about 3,055,534 (337)

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

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

A review and definition of ‘usual care’ in genetic counseling trials to standardize use in research

Journal of Genetic Counseling, 2020
The descriptor ‘usual care’ refers to standard or routine care. Yet, no formal definition exists. The need to define what constitutes usual care arises in clinical research.
B. Biesecker, Sarah E Lillie, L. Amendola, Katherine E. Donohue, K. East, A. K. Foreman, Marian J. Gilmore, V. Greve, Billie Liangolou, Julianne M. O’Daniel, Jacqueline A. Odgis, Shannon Rego, Brad Rolf, S. Scollon, Sabrina A. Suckiel, Jamilyn M Zepp, Galen Joseph   +16 more
semanticscholar   +1 more source

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

B cell mechanobiology in health and disease: emerging techniques and insights into therapeutic responses

FEBS Letters, EarlyView.
B cells sense external mechanical forces and convert them into biochemical signals through mechanotransduction. Understanding how malignant B cells respond to physical stimuli represents a groundbreaking area of research. This review examines the key mechano‐related molecules and pathways in B lymphocytes, highlights the most relevant techniques to ...
Marta Sampietro, Marco Cellani, Cristina Scielzo   +2 more
wiley   +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

Evolutionary interplay between viruses and R‐loops

FEBS Letters, EarlyView.
Viruses interact with specialized nucleic acid structures called R‐loops to influence host transcription, epigenetic states, latency, and immune evasion. This Perspective examines the roles of R‐loops in viral replication, integration, and silencing, and how viruses co‐opt or avoid these structures.
Zsolt Karányi, Zita Képes, Zoltán Szabó, Eszter Csoma, Lóránt Székvölgyi   +4 more
wiley   +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

Circulating histones as clinical biomarkers in critically ill conditions

FEBS Letters, EarlyView.
Circulating histones are emerging as promising biomarkers in critical illness due to their diagnostic, prognostic, and therapeutic potential. Detection methods such as ELISA and mass spectrometry provide reliable approaches for quantifying histone levels in plasma samples.
José Luis García‐Gimenez, Juan Carlos Ruiz‐Rodríguez, Ricard Ferrer, Raquel Durá, Antonio Artigas, Iván Bajaña, David Bolado López de Andujar, Irene Cánovas‐Cervera, Adrián Ceccato, Luis Chiscano‐Camón, Elena Climent‐Martinez, Georgia García Fernández, Gemma Goma, Verónica Monforte, Beatriz Quevedo‐Sánchez, Adolf Ruiz‐Sanmartín, Antonio Sierra‐Rivera, Nieves Carbonell Monleón   +17 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