Results 61 to 70 of about 3,229,696 (385)

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

MANAGING VARIANT DISCREPANCY IN HEREDITARY CANCER: CLINICAL PRACTICE, BARRIERS, AND DESIRED RESOURCES [PDF]

, 2017
Variants are changes in the DNA whose phenotypic effects may or may not be definitively understood. Because variant interpretation is a complex process, sources sometimes disagree on the classification of a variant, which is called a variant discrepancy.
Zirkelbach, Ellen
core   +1 more source

Familly with two different cases of post- and pre-natal L1 syndrome; When hydrocephaly become "multidisciplinary headache" [PDF]

, 2016
open11openBukvic, Nenad; Boaretto, Francesca; Loverro, Giuseppe; Susca, Francesco C.; Lovaglio, Rosaura; Patruno, Margherita; Bukvic, Dragoslav; Starcevic, Srdjan; Vazza, Giovanni; Mostaciuollo, Maria Luisa; Resta, NicolettaBukvic, Nenad; Boaretto ...
Boaretto, Francesca, Bukvic, Dragoslav, Bukvic, Nenad, Lovaglio, Rosaura, Loverro, Giuseppe, Mostaciuollo, Maria Luisa, Patruno, Margherita, Resta, Nicoletta, Starcevic, Srdjan, Susca, Francesco C., Vazza, Giovanni   +10 more
core   +1 more source

Communicating risk and the landscape of cancer prevention — an exploratory study that examines perceptions of cancer-related genetic counseling and testing among African Americans and Latinos in the Midwest [PDF]

, 2023
Crystal Y. Lumpkins, Rafaela Nelson, Zawadi Twizele, Mariana Ramírez, Kim S. Kimminau, Alisdair R. Philp, Reem A. Mustafa, Andrew K. Godwin   +7 more
openalex   +1 more source

Interplay between circadian and other transcription factors—Implications for cycling transcriptome reprogramming

FEBS Letters, EarlyView.
This perspective highlights emerging insights into how the circadian transcription factor CLOCK:BMAL1 regulates chromatin architecture, cooperates with other transcription factors, and coordinates enhancer dynamics. We propose an updated framework for how circadian transcription factors operate within dynamic and multifactorial chromatin landscapes ...
Xinyu Y. Nie, Jerome S. Menet
wiley   +1 more source

Racial disparities in cancer genetic counseling encounters: study protocol for investigating patient-genetic counselor communication in the naturalistic clinical setting using a convergent mixed methods design

BMC Cancer, 2023
Background Despite decades of effort to reduce racial cancer disparities, Black people continue to die at higher rates from cancer than any other U.S. racial group.
Nao Hagiwara, Nadia Harika, Erin P. Carmany, Yongyun Shin, Susan Eggly, Shawn C. T. Jones, John Quillin   +6 more
doaj   +1 more source

The role of the genetic counsellor: a systematic review of research evidence [PDF]

, 2014
In Europe, genetic counsellors are employed in specialist genetic centres or other specialist units. According to the European Board of Medical Genetics, the genetic counsellor must fulfil a range of roles, including provision of information and ...
B Meiser, C Bennett, C Cordier, C James, Caroline Benjamin, Charlotta Ingvoldstad, Christophe Cordier, D Roter, E Pergament, E Smets, H Skirton, Heather Skirton, J Hartley, J Hodgson, J Ingles, JGR Kromberg, JGR Kromberg, KA Hines, KP Powell, L Ellington, LM Kmet, Nicolas Taris, P McCarthy-Veach, R Resta, RG Resta, SJ Lepore, V Braun, V Hannig   +27 more
core   +1 more source

Impact of genetic counselling strategy on diagnostic yield and workload for genome sequencing-based tumour diagnostics [PDF]

, 2023
Roelof Koster, Luuk J. Schipper, Noor A. A. Giesbertz, Daphne M. van Beek, Matías Mendeville, Kris G. Samsom, Efraim H. Rosenberg, Frans B.L. Hogervorst, Paul Roepman, Mirjam C. Boelens, Linda J.W. Bosch, José G. van den Berg, Gerrit A. Meijer, Emile E. Voest, Edwin Cuppen, Mariëlle Ruijs, Tom van Wezel, Lizet van der Kolk, Kim Monkhorst   +18 more
openalex   +1 more source

Protein pyrophosphorylation by inositol pyrophosphates — detection, function, and regulation

FEBS Letters, EarlyView.
Protein pyrophosphorylation is an unusual signaling mechanism that was discovered two decades ago. It can be driven by inositol pyrophosphate messengers and influences various cellular processes. Herein, we summarize the research progress and challenges of this field, covering pathways found to be regulated by this posttranslational modification as ...
Sarah Lampe, Tanmay Kumar Mohanty, Rashna Bhandari, Dorothea Fiedler   +3 more
wiley   +1 more source

Texas Physicians\u27 Awareness and Utilization of Genetic Services [PDF]

, 2015
The number of disorders for which genetic testing is available has increased nearly 500% in the past 15 years. Access to the majority of genetic tests and services hinges on physicians’ ability to identify patients at risk for genetic disease and provide
Jenevein, Callie L
core   +1 more source