Results 11 to 20 of about 688,262 (355)

Clinical genetics of craniosynostosis [PDF]

Current Opinion in Pediatrics, 2017
Purpose of review When providing accurate clinical diagnosis and genetic counseling in craniosynostosis, the challenge is heightened by knowledge that etiology in any individual case may be entirely genetic, entirely environmental, or anything in between.
Wilkie, A, Johnson, D, Wall, S
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Mosaicism in clinical genetics [PDF]

Molecular Case Studies, 2021
Genetic mosaicism is the state in which there are two or more different sets of cells in a single individual because of one or more postzygotic mutations, and its importance in clinical genetics has long been recognized (Hall, Am J Hum Genet43: 355 [1988]). In this Perspective, a paper in this special issue on mosaicism from Cook et al.
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Rare Genetic Diseases: Nature's Experiments on Human Development

iScience, 2020
Rare genetic diseases are the result of a continuous forward genetic screen that nature is conducting on humans. Here, we present epistemological and systems biology arguments highlighting the importance of studying these rare genetic diseases.
Chelsea E. Lee, Kaela S. Singleton, Melissa Wallin, Victor Faundez   +3 more
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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
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Decreased FMR1 mRNA levels found in men with substance use disorders

Heliyon, 2020
FMR1 gene (fragile X mental retardation 1) represents a genetic and epigenetic factor in a number of human diseases. Though the role of FMR1 gene in substance use disorders (SUDs) is not well studied, a number of investigations indicate that SUDs and ...
Maria Krasteva, Yana Koycheva, Rositsa Racheva, Teodora Taseva, Tsveta Raycheva, Stiliana Simeonova, Boryan Andreev   +6 more
doaj   +1 more source

THE ROLE OF GENETICS IN MODERN MEDICINE

Байкальский медицинский журнал, 2022
The lecture examines the role of modern genetics and its significance for medicine. The goals of genetics and its structure are determined. It is shown that modern medical genetics is divided into general genetics, clinical genetics and laboratory ...
Elena Anatolyevna Tkachuk, Igor Zhanovich Seminsky   +1 more
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Federated generalized linear mixed models for collaborative genome-wide association studies

iScience, 2023
Summary: Federated association testing is a powerful approach to conduct large-scale association studies where sites share intermediate statistics through a central server. There are, however, several standing challenges.
Wentao Li, Han Chen, Xiaoqian Jiang, Arif Harmanci   +3 more
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Genome-wide analyses identify SCN5A as a susceptibility locus for premature atrial contraction frequency

iScience, 2022
Summary: Premature atrial contractions (PACs) are frequently observed on electrocardiograms and are associated with increased risks of atrial fibrillation (AF), stroke, and mortality.
Sébastien Thériault, Medea Imboden, Mary L. Biggs, Thomas R. Austin, Stefanie Aeschbacher, Emmanuel Schaffner, Jennifer A. Brody, Traci M. Bartz, Martin Risch, Kirsten Grossmann, Henry J. Lin, Elsayed Z. Soliman, Wendy S. Post, Lorenz Risch, Jose E. Krieger, Alexandre C. Pereira, Susan R. Heckbert, Nona Sotoodehnia, Nicole M. Probst-Hensch, David Conen   +19 more
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Genetics in clinical oncology [PDF]

The Indian Journal of Pediatrics, 1982
This is the first book to provide a thorough grounding in the applications of genetics to cancer medicine, enabling the clinician to convey to patients and their families an understanding of the genetic nature of cancer, and to provide them with accurate advice.
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Genetics, Clinical Features, and Long-Term Outcome of Noncompaction Cardiomyopathy [PDF]

, 2018
BACKGROUND: The clinical outcomes of noncompaction cardiomyopathy (NCCM) range from asymptomatic to heart failure, arrhythmias, and sudden cardiac death. Genetics play an important role in NCCM. OBJECTIVES: This study investigated the correlations
van Spaendonck-Zwarts, KY, Dalinghaus, M, Hofstra, RMW, Backx, A, van Melle, JP, IJpma, Arne, Teske, AJ, Sarvaas, GJD, van den Berg, MP, Caliskan, Kadir; id_orcid, Caliskan, Kadir, Kardys, Isabella, Baas, AF, Asselbergs, FW, du Marchie Sarvaas, GJ, Breur, JMPJ, Linschoten, MPM, Breur, J, Boekholdt, SM, Dooijes, D, Waning, Jaap, Hofstra, Robert, Backx, APCM, Spaendonck-Zwarts, KY, Majoor-Krakauer, D, Caliskan, K, IJpma, AS, Jongbloed, JDH, Hoedemaekers, YM, Dalinghaus, M., Kardys, I, van Slegtenhorst, Marjon, van Slegtenhorst, MA, Deprez, RHL, Majoor - Krakauer, Danielle, Verlooij, LA, van Waning, JI   +36 more
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