Results 91 to 100 of about 5,647,381 (313)

Improving medical students' knowledge of genetic disease: a review of current and emerging pedagogical practices

Advances in Medical Education and Practice, 2015
Michael J Wolyniak,1 Lynne T Bemis,2 Amy J Prunuske2 1Department of Biology, Hampden-Sydney College, Hampden-Sydney, VA, 2Department of Biomedical Sciences, University of Minnesota Medical School, Duluth, MN, USA Abstract: Genetics is an essential ...
Wolyniak MJ, Bemis LT, Prunuske AJ
doaj  

The ICR96 exon CNV validation series: a resource for orthogonal assessment of exon CNV calling in NGS data [version 1; referees: 2 approved]

Wellcome Open Research, 2017
Detection of deletions and duplications of whole exons (exon CNVs) is a key requirement of genetic testing. Accurate detection of this variant type has proved very challenging in targeted next-generation sequencing (NGS) data, particularly if only a ...
Shazia Mahamdallie, Elise Ruark, Shawn Yost, Emma Ramsay, Imran Uddin, Harriett Wylie, Anna Elliott, Ann Strydom, Anthony Renwick, Sheila Seal, Nazneen Rahman   +10 more
doaj   +1 more source

ACMG SF v3.2 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG).

Genetics in Medicine, 2023
David T. Miller, Kristy Lee, N. Abul-Husn, L. Amendola, K. Brothers, Wendy K. Chung, M. Gollob, A. Gordon, S. Harrison, R. E. Hershberger, Teri Klein, C. Richards, D. Stewart, C. Martin   +13 more
semanticscholar   +1 more source

Disorders of sex development (DSD): an overview of recent scientific advances [PDF]

, 2014
Developments in biotechnology have radically altered clinical and research themes in the small field of disorders of sex development, as in other rare medical conditions. In the age of genetics, an increasing number of DSDs have been identified. Aided by
Conway, GS
core  

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

Clinical Characteristics and Prognostic Risk Factors for Pediatric B‐Cell Lymphoblastic Lymphoma: A Multicenter Retrospective Cohort Study for China Net Childhood Lymphoma

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background B‐cell lymphoblastic lymphoma (B‐LBL) represents a rare variety of non‐Hodgkin lymphoma, with limited research on its biology, progression, and management. Methods A retrospective analysis was performed on the clinical characteristics of 256 patients aged ≤18 years who received treatment under the China Net Childhood Lymphoma (CNCL)‐
Zhijuan Liu, Jian Wang, Ling Jin, Yanlong Duan, Fu Li, Yueping Jia, Leping Zhang, Xiaojun Yuan, Wei Liu, Ying Liu, Ansheng Liu, Mincui Zheng, Yunpeng Dai, Lian Jiang, Lirong Sun, Xiaowen Zhai, Rong Liu, Chunju Zhou, Zifen Gao, Yonghong Zhang, Xiaomei Yang   +20 more
wiley   +1 more source

DELP Treatment on Vision and Retinal Microcirculation in Patients With Acute Ischemic Stroke: Report of Five Cases and Literature Review

Therapeutic Apheresis and Dialysis, EarlyView.
ABSTRACT Background The delipid extracorporeal lipoprotein filter from plasma (DELP) treatment can effectively reduce blood lipid, increase blood flow, and improve neurological deficits in patients with acute ischemic stroke (AIS). However, its effect on vision and retinal microcirculation in stroke patients has never been reported.
Ning Li, Ronghua Hong, Hua You, Feiping Xu, Qingjun Zhang, Yiwen Lin, Yuting Su, Danmei Lan, Lingjing Jin, Junhui She   +9 more
wiley   +1 more source

Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)

Genetics in Medicine, 2021
Kandamurugu Manickam, M. McClain, L. Demmer, Sawona Biswas, H. Kearney, J. Malinowski, L. Massingham, Danny Miller, T. Yu, F. Hisama   +9 more
semanticscholar   +1 more source

A Comparative Study of Cerebral Oxygenation During Exercise in Hemodialysis and Peritoneal Dialysis Patients

Therapeutic Apheresis and Dialysis, EarlyView.
ABSTRACT Introduction Cognitive impairment and exercise intolerance are common in dialysis patients. Cerebral perfusion and oxygenation play a major role in both cognitive function and exercise execution; HD session per se aggravates cerebral ischemia in this population. This study aimed to compare cerebral oxygenation and perfusion at rest and in mild
Marieta P. Theodorakopoulou, Konstantina Dipla, Danai Faitatzidou, Fotini Iatridi, Areti Georgiou, Artemios Karagiannidis, Erasmia Sampani, Chrysostomos Dimitriadis, Aggelos Koutlas, Andreas Zafeiridis, Pantelis Sarafidis   +10 more
wiley   +1 more source

The Genetic Testing Stewardship Program:: A Bridge to Precision Diagnostics for the Non-genetics Medical Provider. [PDF]

Dela J Public Health, 2021
Thomas M, MGC, Amlie-Wolf L, Baker L, MGC, Gripp KW, FACMG.   +6 more
europepmc   +1 more source