Results 211 to 220 of about 109,513 (348)

Non-Mendelian Inheritance of Paralogs of 2 Cytoskeletal Genes in the Ciliate Chilodonella uncinata [PDF]

, 2008
T. Robinson, Laura A. Katz
openalex   +1 more source

A historical perspective on Lionel Penrose: Scientist, geneticist and dedicated opponent of eugenics

Annals of Human Genetics, EarlyView.
Abstract The paper explores Lionel Penrose's scientific work. Penrose investigated the causes of mental disorders from clinical and genetic points of view. His investigations on phenylketonuria and Down syndrome helped to demonstrate the heterogenous character of mental disorders, whose causes can range from genetic with high penetrance, to largely ...
Maria Kiladi
wiley   +1 more source

Incorporating familial risk, lifestyle factors, and pharmacogenomic insights into personalized noncommunicable disease (NCD) reports for healthcare funder beneficiaries participating in the Open Genome Project

Annals of Human Genetics, EarlyView.
Abstract Introduction An ethics‐guided decision‐making framework was developed for applying pathology‐supported genetic testing, a multifaceted pharmacodiagnostic approach that translates population risk stratification into clinical utility. We introduce this service, supported by the Open Genome Project, which aligns with the beneficence principle in ...
Manie De Klerk, Nicole Van Der Merwe, Johny Erasmus, Lindiwe Whati, Kelebogile E. Moremi, Daniel W. Olivier, Maritha J. Kotze   +6 more
wiley   +1 more source

Genetic Determinants of the Familial Hypercholesterolaemia Phenotype

Annals of Human Genetics, EarlyView.
ABSTRACT Individuals with familial hypercholesterolaemia (FH) have severely elevated plasma concentrations of low‐density lipoprotein cholesterol (LDL‐C) from birth and as a consequence have an elevated morbidity and mortality due to the development of coronary heart disease (CHD).
Steve Eric Humphries, Marta Futema
wiley   +1 more source

How exome sequencing improves the diagnostics and management of men with non‐syndromic infertility

Andrology, EarlyView.
Abstract Male infertility affects approximately 17% of all men and represents a complex disorder in which not only semen parameters such as sperm motility, morphology, and number of sperm are highly variable, but also testicular phenotypes range from normal spermatogenesis to complete absence of germ cells.
Birgit Stallmeyer, Ann‐Kristin Dicke, Frank Tüttelmann   +2 more
wiley   +1 more source

Pan‐genome and multi‐parental framework for high‐resolution trait dissection in melon (Cucumis melo)

The Plant Journal, Volume 112, Issue 6, Page 1525-1542, December 2022., 2022
SUMMARY Linking genotype with phenotype is a fundamental goal in biology and requires robust data for both. Recent advances in plant‐genome sequencing have expedited comparisons among multiple‐related individuals. The abundance of structural genomic within‐species variation that has been discovered indicates that a single reference genome cannot ...
Elad Oren, Asaf Dafna, Galil Tzuri, Ilan Halperin, Tal Isaacson, Meital Elkabetz, Ayala Meir, Uzi Saar, Shachar Ohali, Thuy La, Cinta Romay, Yaakov Tadmor, Arthur A. Schaffer, Edward S. Buckler, Roni Cohen, Joseph Burger, Amit Gur   +16 more
wiley   +1 more source

Sugarcane genetics: Underlying theory and practical application

Crop Journal
Sugarcane is recognized as the fifth largest crop globally, supplying 80% of sugar and 40% of bioenergy production. However, sugarcane genetic research has significantly lagged behind other crops due to its complex genetic background, high ploidy (8–13×),
Hengbo Wang, Yong-Bao Pan, Mingxing Wu, Junhong Liu, Shiwei Yang, Qibin Wu, Youxiong Que   +6 more
doaj  

Innovative all‐in‐one exome sequencing strategy for diagnostic genetic testing in male infertility: Validation and 10‐month experience

Andrology, EarlyView.
Abstract Background Current guidelines indicate that patients with extreme oligozoospermia or azoospermia should be tested for chromosomal imbalances, azoospermia factor (AZF) deletions and/or CFTR variants. For other sperm abnormalities, no genetic diagnostics are recommended.
Manon S. Oud, Nicole de Leeuw, Dominique F. C. M. Smeets, Liliana Ramos, Godfried W. van der Heijden, Raoul G. J. Timmermans, Maartje van de Vorst, Tom Hofste, Marlies J. E. Kempers, Marijn F. Stokman, Kathleen W. M. D'Hauwers, Brigitte H. W. Faas, Dineke Westra   +12 more
wiley   +1 more source

Haplotype mining panel for genetic dissection and breeding in Eucalyptus

The Plant Journal, Volume 113, Issue 1, Page 174-185, January 2023., 2023
SUMMARY To improve our understanding of genetic mechanisms underlying complex traits in plants, a comprehensive analysis of gene variants is required. Eucalyptus is an important forest plantation genus that is highly outbred. Trait dissection and molecular breeding in eucalypts currently relies on biallelic single‐nucleotide polymorphism (SNP) markers.
Julia Candotti, Nanette Christie, Raphael Ployet, Marja M. Mostert‐O'Neill, S. Melissa Reynolds, Leandro Gomide Neves, Sanushka Naidoo, Eshchar Mizrachi, Tuan A. Duong, Alexander A. Myburg   +9 more
wiley   +1 more source

Applications and efficiencies of the first cat 63K DNA array [PDF]

, 2018
Warren, Wesley C.
core   +2 more sources