Results 31 to 40 of about 1,273,127 (279)

Clinical Genetics in Britain: Origins and development [PDF]

, 2010
Annotated and edited transcript of a Witness Seminar held on 23 September 2008. Introduction by Professor Sir John Bell, Uiversity of Oxford.First published by the Wellcome Trust Centre for the History of Medicine at UCL, 2010.©The Trustee of the ...
Harper, PS, Reynolds, LA, Tansey, EM
core  

Increasing confidence and changing behaviors in primary care providers engaged in genetic counselling. [PDF]

, 2017
BackgroundScreening and counseling for genetic conditions is an increasingly important part of primary care practice, particularly given the paucity of genetic counselors in the United States.
A Cull, A Schwartz, AO Berg, CA Bellcross, CA Bellcross, CE Franz, CS Skinner, D Kegelaers, DK Sokol, EJ Houwink, EJ Houwink, Erik Lehman, Frank C. Day, FS Collins, Haley McDermott, HJ Baer, J Mancini, JC Carroll, KF Trivers, M Paneque, M Srinivasan, MD Schwartz, Michael J. Green, Michael S. Wilkes, MJ Green, MJ Novak, ML Rinke, NA Mikat-Stevens, PO Ozuah, R Grol, RA Bell, RM Epstein, RM Hoffman, Robert A. Bell, S Appleton, T Pal, TJ Leonarczyk, Tonya L. Fancher, V Rahimzadeh, VA Moyer, W Burke, W Burke, YR Cukier   +42 more
core   +1 more source

Bone Marrow Failure as an Underrecognized Feature of KAT6A Syndrome

Pediatric Blood &Cancer, EarlyView.
ABSTRACT KAT6A syndrome (Arboleda–Tham syndrome) is a rare disorder caused by heterozygous pathogenic variants in KAT6A, a histone acetyltransferase essential for chromatin remodeling and hematopoietic stem cell function. While neurodevelopmental features are well established, hematologic manifestations are underrecognized.
Ye Jee Shim, Bruce Crooks, Hyoung Jin Kang, Kyung Taek Hong, Jung Yoon Choi, Hye Ra Jung, Chang Ahn Seol, Rinu Mathew, Yigal Dror   +8 more
wiley   +1 more source

Interview with Huda Zoghbi [PDF]

, 2016
An oral history interview with Dr. Huda Zoghbi about her career at Baylor College of Medicine in the Texas Medical Center. She worked as a professor in the Departments of Pediatrics, Molecular and Human Genetics, Neurology and Neuroscience at Baylor ...
Zoghbi, Huda, MD
core   +1 more source

Ethical, legal, and policy dimensions and contentions for reanalysis and reinterpretation of clinical genetic testing results

Frontiers in Genetics
The rapid evolution of genomic knowledge has made reanalysis and reinterpretation of clinical genetic testing results an ethical imperative to ensure optimal patient care. However, significant discrepancies persist between policies, laboratory practices,
Zachary T. Sentell, Zachary T. Sentell, Ma’n H. Zawati, Ma’n H. Zawati   +3 more
doaj   +1 more source

Racial and ethnic variation in multigene panel testing in a cohort of BRCA1/2‐negative individuals who had genetic testing in a large urban comprehensive cancer center

Cancer Medicine, 2022
Background There is sparse clinical information on the racial and ethnic distribution of results of multigene panel testing among individuals at high risk for hereditary cancer.
Sushma Tatineni, Meri Tarockoff, Nadine Abdallah, Kristen S. Purrington, Hadeel Assad, Rachel Reagle, Nancie Petrucelli, Michael S. Simon   +7 more
doaj   +1 more source

Psychosocial Outcomes in Patients With Endocrine Tumor Syndromes: A Systematic Review

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Introduction The combination of disease manifestations, the familial burden, and varying penetrance of endocrine tumor syndromes (ETSs) is unique. This review aimed to portray and summarize available data on psychosocial outcomes in patients with ETSs and explore gaps and opportunities for future research and care.
Daniël Zwerus, Floortje Strobbe, Annemarie A. Verrijn Stuart, Hanneke M. van Santen, Gerlof D. Valk, Sasja A. Schepers, Rachel S. van Leeuwaarde   +6 more
wiley   +1 more source

Cis and Trans Effects of Human Genomic Variants on Gene Expression [PDF]

, 2014
This work was funded by the Louis-Jeantet Foundation (http://www.jeantet.ch/), the European Research Council (Grant ID: 260927 http://erc.europa.eu/), the Swiss National Foundation (Grant ID: 130342 http://www.snf.ch), NCCR Frontiers In Genetics (http ...
A Boyd, AC Nica, AC Nica, AH Talukder, Alfonso Buil, AR Wood, AS Dimas, BE Stranger, BE Stranger, BU Schraml, C Wallace, Christopher David Brown, David M. Evans, DF Conrad, DJ Gaffney, DL Nicolae, DM Greenawalt, Donald F. Conrad, E Grundberg, E Klopocki, EE Schadt, Emmanouil T. Dermitzakis, George Davey Smith, GR Abecasis, H Huang, HJ Westra, J Ding, J Millstein, J Zhu, JD Storey, JE Powell, JK Pickrell, John P. Kemp, Julien Bryois, K Hildner, Karen M. Ho, LA Hindorff, M Gutierrez-Arcelus, M Scutari, Matthew Hurles, ND Miller, NL Barbosa-Morais, Panos Deloukas, RW Jones, SB Montgomery, SB Montgomery, SJ Loughran, Stephen B. Montgomery, Susan Ring, T Lappalainen, TR Insel, W Wang, Y Li, Y Li   +53 more
core   +5 more sources

Incidence and Outcome of Infants With Cancer in Canada: A Report From Cancer in Young People in Canada Database

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Purpose Infants with cancer are rare and face unique challenges. Our study aims to describe the incidence of infantile cancers in Canada and to compare treatment‐related mortality (TRM) and their outcomes with those of older children. Methods We conducted a retrospective cohort study using the Cancer in Young People in Canada database ...
Samuel Sassine, Hallie Coltin, Maria Kondyli, Monia Marzouki, Nicolas Prud'homme, Nida Usmani, Sylvia Cheng, Lesleigh Abbott, Tony Truong, Sapna Oberoi, Ketan Kulkarni, Josée Brossard, Lynette Bowes, Paul Gibson, Donna L. Johnston, Sarah McKillop, Roona Sinha, Lillian Sung, Catherine Vezina, Laura Wheaton, Alexandra P. Zorzi, Marie‐Claude Pelland‐Marcotte, Thai Hoa Tran   +22 more
wiley   +1 more source

Research in medical education [PDF]

, 2009
The year 2009 saw a number of developments in Medical Education in Malta that were initiated as a result of a commitment to revising the medical curriculum in order to meet the challenges in medical education.
Vassallo, Josanne
core