Results 181 to 190 of about 96,085 (345)

SCN9A variant in a family of mixed breed dogs with congenital insensitivity to pain

Journal of Veterinary Internal Medicine, Volume 37, Issue 1, Page 230-235, January/February 2023., 2023
Abstract Background Congenital insensitivity to pain (CIP) and hereditary sensory and autonomic neuropathies (HSANs) are a rare group of genetic disorders causing inability to feel pain. Three different associated variants have been identified in dogs: 1 in Border Collies, 1 in mixed breed dogs, and 1 in Spaniels and Pointers.
Rodrigo Gutierrez‐Quintana, Matthias Christen, Kiterie M. E. Faller, Julien Guevar, Vidhya Jagannathan, Tosso Leeb   +5 more
wiley   +1 more source

Parentage Verification and Segregation Distortion Patterns of Microsatellite Markers in Olive Flounder (Paralichthys olivaceus) Full-Sib Families

Animals
Microsatellite markers are widely used in aquaculture for genetic analysis and breeding programs, but challenges such as segregation distortion and allelic instability can impact their effectiveness in parentage verification and inheritance studies. This
Songhyun Gwon, Eunjeong Kim, Wonse Lee, Jisung Han, Yoonkwon Nam   +4 more
doaj   +1 more source

Structural variants identified using non-Mendelian inheritance patterns advance the mechanistic understanding of autism spectrum disorder. [PDF]

HGG Adv, 2023
Kainer D, Templeton AR, Prates ET, Jacboson D, Allan ERO, Climer S, Garvin MR.   +6 more
europepmc   +1 more source

Simple Mendelian inheritance at a locus coding for α-glycerophosphate dehydrogenase in brown trout (Salmo trutta) [PDF]

, 2008
Gunnar Ståhl, Nils Ryman
openalex   +1 more source

Rare GNAO1 Variant Presenting with Deep Brain Stimulation‐Responsive Jaw‐Opening Dystonia

Movement Disorders Clinical Practice, EarlyView.
Fabian Maass, Saskia Biskup, Vesna Malinova, Christiane Weinrich, Christoph van Riesen   +4 more
wiley   +1 more source

Maternal Anaemia and Congenital Heart Disease in Offspring: A Case–Control Study Using Linked Electronic Health Records in the United Kingdom

BJOG: An International Journal of Obstetrics &Gynaecology, EarlyView.
ABSTRACT Objective Assessment of whether maternal anaemia in early pregnancy is associated with offspring congenital heart disease (CHD). Design Matched case–control study. Setting January 1998–October 2020, United Kingdom. Population Women with a haemoglobin measurement in the first 100 days of pregnancy and a CHD‐diagnosed child.
Manisha Nair, Cynthia W. Drakesmith, Margaret Smith, Clare R. Bankhead, Duncan B. Sparrow   +4 more
wiley   +1 more source

Different molecular changes underlie the same phenotypic transition: Origins and consequences of independent shifts to homostyly within species

Molecular Ecology, Volume 32, Issue 1, Page 61-78, January 2023., 2023
Abstract The repeated transition from outcrossing to selfing is a key topic in evolutionary biology. However, the molecular basis of such shifts has been rarely examined due to lack of knowledge of the genes controlling these transitions. A classic example of mating system transition is the repeated shift from heterostyly to homostyly.
Emiliano Mora‐Carrera, Rebecca L. Stubbs, Barbara Keller, Étienne Léveillé‐Bourret, Jurriaan M. de Vos, Peter Szövényi, Elena Conti   +6 more
wiley   +1 more source

High-Throughput Phenotyping of Clinical Text Using Large Language Models [PDF]

arXiv
High-throughput phenotyping automates the mapping of patient signs to standardized ontology concepts and is essential for precision medicine. This study evaluates the automation of phenotyping of clinical summaries from the Online Mendelian Inheritance in Man (OMIM) database using large language models. Due to their rich phenotype data, these summaries
arxiv  

Number of Mendelian Factors in Quantitative Inheritance

Nature, 1933
IN a note in the current Eugenics Review entitled “Evolution by Selection”, “Student” has directed attention to some statistical consequences of the inheritance of quantitative characters, in relation to the theory that these are due to the cumulative effect of a number of ordinary Mendelian factors.
openaire   +2 more sources

Deep Brain Stimulation Improves Symptoms in an Individual with Alpha‐Synuclein‐Gene‐Associated Parkinson's Disease

Movement Disorders Clinical Practice, EarlyView.
Abigail Braun, Dion Basson, Shahida Moosa, Jonathan Carr, Soraya Bardien, Riaan van Coller   +5 more
wiley   +1 more source