Results 31 to 40 of about 1,645,811 (308)

Direct-to-consumer genetic testing: where and how does genetic counseling fit? [PDF]

, 2017
Direct-to-consumer genetic testing for disease ranges from well-validated diagnostic and predictive tests to ‘research’ results conferring increased risks.
Anna Middleton, ASHG (American Society of Human Genetics Ad Hoc Committee on Genetic Counselling)., Caroline M Benjamin, Heidi Carmen Howard, Human Genetics Commission., Kalokairinou L, Marteau TM, McCarthy Veach P, Álvaro Mendes   +8 more
core   +1 more source

Protease inhibitor (Pi) locus, fertility and twinning [PDF]

, 1992
In a sample of 160 Dutch twin pairs and their parents, we found that mothers of dizygotic twins had frequencies of the S and Z alleles at the protease inhibitor (Pi) locus that were 3 times higher than a control sample.
Bank, R.A., Boomsma, D.I., Frants, R.R., Martin, N.G.   +3 more
core   +1 more source

Y chromosome damage underlies testicular abnormalities in ATR-X syndrome

iScience
Summary: ATR-X (alpha thalassemia, mental retardation, X-linked) syndrome features genital and testicular abnormalities including atypical genitalia and small testes with few seminiferous tubules. Our mouse model recapitulated the testicular defects when
Nayla Y. León, Thanh Nha Uyen Le, Andrew Garvie, Lee H. Wong, Stefan Bagheri-Fam, Vincent R. Harley   +5 more
doaj   +1 more source

Some pioneers of European human genetics [PDF]

, 2017
Some of the pioneers of human genetics across Europe are described, based on a series of 100 recorded interviews made by the author. These interviews, and the memories of earlier workers in the field recalled by interviewees, provide a vivid picture ...
A Hogben, EM Jones, EM Jones, F Mitelman, F Vogel, F Vogel, G Broberg, H Eiberg, H Winiwarter, J Mohr, J: Bell, JH Tjio, K Dronamraju, M Gautier, M Geiser, M Hulten, MT Macklin, OL Mohr, Peter S Harper, PS Harper, PS Harper, PS Harper, R Laxova, R Norio, S Gilgenkrantz, T Caspersson, Z Medvedev, Z Medvedev   +27 more
core   +1 more source

Low-density lipoprotein receptor genotypes modify the sera metabolome of patients with homozygous familial hypercholesterolemia

iScience, 2022
Summary: Homozygous familial hypercholesterolemia (HoFH) is an extremely rare metabolism disorder usually caused by low-density lipoprotein receptor (LDLR) mutations.
Zhiyong Du, Fan Li, Linyi Li, Yu Wang, Jianping Li, Ya Yang, Long Jiang, Luya Wang, Yanwen Qin   +8 more
doaj   +1 more source

Generation of Dual-Color FISH probes targeting 9p21, Xp21, and 17p13.1 loci as diagnostic markers for some genetic disorders and cancer in Egypt

Journal of Genetic Engineering and Biotechnology
Introduction: The fluorescence in situ hybridization (FISH) is a very important technique, as it can diagnose many genetic disorders and cancers. Molecular cytogenetic analysis (FISH) can diagnose numerical chromosome aberrations, sex chromosomes ...
Amal M. Mohamed, Maha Eid, Ola Eid, Shymaa H Hussein, Wael Mahmoud, Rana Mahrous, Khaled Refaat, Marwa Farid   +7 more
doaj   +1 more source

Evolution of Genetic Techniques: Past, Present, and Beyond. [PDF]

, 2015
Genetics is the study of heredity, which means the study of genes and factors related to all aspects of genes. The scientific history of genetics began with the works of Gregor Mendel in the mid-19th century.
Cogulu, O., Demkow, U., Durmaz, A.A., Karaca, E., Schoumans, J., Toruner, G.   +5 more
core   +4 more sources

Behinderung – Genetik – Vorsorge. Sterilisationspraxis und humangenetische Beratung in der Bundesrepublik

Zeithistorische Forschungen, 2013
To this day, there is no comprehensive account of the history of genetic counseling in the FRG. This is surprising, as studying the connections between counseling practice and disability as well as concepts and critique of Human Genetics allows for an ...
Britta-Marie Schenk
doaj   +1 more source

Behavioural Genetics in Criminal Cases: Past, Present and Future [PDF]

, 2006
Researchers studying human behavioral genetics have made significant scientific progress in enhancing our understanding of the relative contributions of genetics and the environment in observed variations in human behavior. Quickly outpacing the advances
Bernet, William, Farahany, Nita A.
core   +1 more source

HAGR: the Human Ageing Genomic Resources [PDF]

, 2004
The Human Ageing Genomic Resources (HAGR) is a collection of online resources for studying the biology of human ageing. HAGR features two main databases: GenAge and AnAge. GenAge is a curated database of genes related to human ageing.
Costa, Joana, de Magalhães, João Pedro, Toussaint, Olivier   +2 more
core   +2 more sources