Results 51 to 60 of about 5,647,381 (313)

Optimizing genetics online resources for diverse readers. [PDF]

, 2020
PurposeClear and accurate genetic information should be available to health-care consumers at an individualized level of comprehension. The objective of this study is to evaluate the complexity of common online resources and to simplify text content ...
Chang, Jiyoo, Penon-Portmann, Monica, Shieh, Joseph T   +2 more
core  

The European Society of Human Genetics: beginnings, early history and development over its first 25 years [PDF]

, 2017
The European Society of Human Genetics (ESHG) was founded on 15 March 1967, after preliminary discussions at the International Human Genetics Congress in Chicago the previous year and in Copenhagen in early 1967.
Harper, Peter
core   +1 more source

Lifestyle Behaviors and Cardiotoxic Treatment Risks in Adult Childhood Cancer Survivors

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Higher doses of anthracyclines and heart‐relevant radiotherapy increase cardiovascular disease (CVD) risk. This study assessed CVD and CVD risk factors among adult childhood cancer survivors (CCSs) across cardiotoxic treatment risk groups and examined associations between lifestyle behaviors and treatment risks.
Ruijie Li, Raquel Revuelta Iniesta, Alan R. Barker, Dimitris Vlachopoulos, Tomáš Sláma, Christina Schindera, Fabiën N. Belle   +6 more
wiley   +1 more source

Classification of Big Data with Application to Imaging Genetics

, 2016
Big data applications, such as medical imaging and genetics, typically generate datasets that consist of few observations n on many more variables p, a scenario that we denote as p>>n.
Palsson, Frosti, Sigurdsson, Jakob, Sveinsson, Johannes R., Ulfarsson, Magnus O.   +3 more
core   +1 more source

A prospective cohort study assessing clinical referral management & workforce allocation within a UK regional medical genetics service [PDF]

, 2015
Ensuring patient access to genomic information in the face of increasing demand requires clinicians to develop innovative ways of working. This paper presents the first empirical prospective observational cohort study of UK multi-disciplinary genetic ...
A Norris, A Trepanier, Astrid Weber, ATM Dierick-van Daele, B Zellerino, C Barnes, C Cordier, Caroline Benjamin, Catherine Houghton, Chris Edgar, CL Bennett, Claire Foo, D Evans, DH Peters, E McCann, G Martin, G Richardson, Gail Mannion, H Burton, H Skirton, H Skirton, Heather Skirton, Ian Ellis, Jan Birch, JGR Kromberg, JGR Kromberg, L Goldsmith, M Kirk, M McAllister, M McAllister, MD Schwartz, P Craig, R Iredale, RN Battista, S Cohen, SA Cohen, T Rigter, Türem Delikurt, V Hannig   +38 more
core   +1 more source

Cerebrospinal Fluid Liquid Biopsy Enables Targeted Therapy Without Tissue Diagnosis in Pediatric Low‐Grade Gliomas With BRAF V600E Mutation

Pediatric Blood &Cancer, EarlyView.
ABSTRACT We present two pediatric cases of pediatric low‐grade gliomas (PLGG) with BRAF V600E mutations diagnosed and monitored using cerebrospinal fluid (CSF) liquid biopsy analyzed via digital droplet PCR (ddPCR), without tissue biopsy. Both patients were treated with dabrafenib and trametinib and monitored through clinical assessments, magnetic ...
Hannah Sultan, Damien Faury, Alexander G. Weil, Harrison J. Westwick, Nada Jabado, Sébastien Perreault   +5 more
wiley   +1 more source

Human brain harbors single nucleotide somatic variations in functionally relevant genes possibly mediated by oxidative stress [version 3; referees: 2 approved]

F1000Research, 2017
Somatic variation in DNA can cause cells to deviate from the preordained genomic path in both disease and healthy conditions. Here, using exome sequencing of paired tissue samples, we show that the normal human brain harbors somatic single base ...
Anchal Sharma, Asgar Hussain Ansari, Renu Kumari, Rajesh Pandey, Rakhshinda Rehman, Bharati Mehani, Binuja Varma, Bapu K. Desiraju, Ulaganathan Mabalirajan, Anurag Agrawal, Arijit Mukhopadhyay   +10 more
doaj   +1 more source

Frequency of Participation in External Quality Assessment Programs Focused on Rare Diseases: Belgian Guidelines for Human Genetics Centers

JMIR Medical Informatics, 2021
BackgroundParticipation in quality controls, also called external quality assessment (EQA) schemes, is required for the ISO15189 accreditation of the Medical Centers of Human Genetics.
Joséphine Lantoine, Anne Brysse, Vinciane Dideberg, Kathleen Claes, Sofie Symoens, Wim Coucke, Valérie Benoit, Sonia Rombout, Martine De Rycke, Sara Seneca, Lut Van Laer, Wim Wuyts, Anniek Corveleyn, Kris Van Den Bogaert, Catherine Rydlewski, Françoise Wilkin, Marie Ravoet, Elodie Fastré, Arnaud Capron, Nathalie Monique Vandevelde   +19 more
doaj   +1 more source

COUNSELING IN MEDICAL GENETICS

The Journal of Nervous and Mental Disease, 1955
Mode of access: Internet.
openaire   +2 more sources

The interface between assisted reproductive technologies and genetics: technical, social, ethical and legal issues [PDF]

, 2006
The interface between assisted reproductive technologies (ART) and genetics comprises several sensitive and important issues that affect infertile couples, families with severe genetic diseases, potential children, professionals in ART and genetics ...
ANASTASIADOU V, AYMÉ S, BRAGA S, CORNEL M, COVIELLO, DOMENICO, ESHG, ESHRE, EVERS KIEBOOMS G, GERAEDTS J, GIANAROLI L, HARPER J, IBARRETA D, KÄÄRIÄINEN H, KOSZTOLANYI G, LUNDIN K, RODRIGUES CEREZO E, SEQUEIROS J, SERMON K, SOINI S, TRANEBJAERG L   +18 more
core   +1 more source