Results 21 to 30 of about 4,953,029 (235)

Barriers and strategies to integrate medical genetics and primary care in underserved populations: a scoping review

Journal of Community Genetics, 2021
Despite clinical and technological advances, serious gaps remain in delivering genetic services due to disparities in workforce distribution and lack of coverage for genetic testing and counseling.
Ann F. Chou, Ashten R. Duncan, G. Hallford, David M. Kelley, L. W. Dean   +4 more
semanticscholar   +1 more source

Technical standards for the interpretation and reporting of constitutional copy number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)

Genetics in Medicine, 2019
Copy-number analysis to detect disease-causing losses and gains across the genome is recommended for the evaluation of individuals with neurodevelopmental disorders and/or multiple congenital anomalies, as well as for fetuses with ultrasound ...
E. Riggs, Erica F Andersen, A. Cherry, S. Kantarci, H. Kearney, Ankita Patel, G. Raca, D. Ritter, S. South, E. Thorland, D. Pineda-Alvarez, S. Aradhya, C. Martin   +12 more
semanticscholar   +1 more source

Clinical-neurologic, cytogenetic and molecular aspects of the Prader-Willi and Angelman Syndromes Aspectos clínico-neurológicos, citogenéticos e moleculares das síndromes de Prader-Willi e Angelman

Arquivos de Neuro-Psiquiatria, 1997
The Prader-Willi syndrome (PWS) and the Angelman syndrome (AS) are human neurogenetic disorders involving the imprinting mechanism, at the 15q11-13 chromosome region.
João M. de Pina-Neto, Victor Evangelista F. Ferraz, Greice Andreotti de Molfetta, Jess Buxton, Sarah Richards, Sue Malcolm   +5 more
doaj   +1 more source

Assessing Medical Students’ Knowledge of Genetics: Basis for Improving Genetics Curriculum for Future Clinical Practice

Advances in Medical Education and Practice, 2021
Amal A Alotaibi, Mary Anne W Cordero Basic Science Department, College of Medicine, Princess Nourah Bint Abdulrahman University, Riyadh, 11671, Kingdom of Saudi ArabiaCorrespondence: Mary Anne W CorderoBasic Science Department, College of Medicine ...
Alotaibi AA, Cordero MAW
doaj  

Doctors Discussing “the Root of Koreans”: Medical Genetics and the Korean Origin, 1975-1987 [PDF]

Uisahak, 2019
Anthropological genetics emerged as a new discipline to investigate the origin of human species in the second half of the twentieth century. Using the genetic database of blood groups and other protein polymorphisms, anthropological geneticists started ...
Jaehwan HYUN
doaj   +1 more source

Medical genetics of ciliopathies

Journal of Pediatric Genetics, 2015
Neither of us had heard about the existence of cilia during biology or genetics courses in high school or university. Nonetheless, these evolutionarily conserved, antenna-shaped organelles of the cell appear to be essential for human development and proper functioning of our organs.
Mans, D.A., Arts, H.H.
openaire   +5 more sources

Revisitando o desvendamento da etiologia da síndrome de Turner Revisiting establishment of the etiology of Turner syndrome

História, Ciências, Saúde: Manguinhos, 2009
Com base em entrevista com José Carlos Cabral de Almeida, o artigo aborda a investigação que culminou no estabelecimento da etiologia genética da síndrome de Turner.
Monica de Paula Jung, Maria Helena Cabral de Almeida Cardoso, Maria Auxiliadora Monteiro Villar, Juan Clinton Llerena Jr.   +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

COUNSELING IN MEDICAL GENETICS

The Journal of Nervous and Mental Disease, 1955
Mode of access: Internet.
openaire   +5 more sources

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