Results 231 to 240 of about 109,513 (348)

Non-Mendelian inheritance of SNP markers reveals extensive chromosomal translocations in dioecious hops (Humulus lupulus L.)

bioRxiv, 2016
Dong Zhang, N. Pitra, M. Coles, E. Buckler, P. Matthews   +4 more
semanticscholar   +1 more source

Clinical whole genome sequencing in pediatric epilepsy: Genetic and phenotypic spectrum of 733 individuals

Epilepsia, EarlyView.
Abstract Objective A large proportion of pediatric epilepsies have an underlying genetic etiology. Limited studies have explored the efficacy of whole genome sequencing (WGS) in a clinical setting. Our academic–clinical center implemented clinical whole exome sequencing (WES) in 2014, then transitioned to WGS from 2015.
Olivia J. Henry, Sofia Ygberg, Michela Barbaro, Nicole Lesko, Leif Karlsson, Lucía Peña‐Pérez, Ann Båvner, Virpi Töhönen, Anna Lindstrand, Tommy Stödberg, Anna Wedell   +10 more
wiley   +1 more source

Heredity of the race-characters univoltinism and bivoltinism in the silkworm (Bombyx mori), a case of non-mendelian inheritance [PDF]

, 1912
Isabel McCracken
openalex   +1 more source

Potassium current inactivation as a novel pathomechanism for KCNQ2 developmental and epileptic encephalopathy

Epilepsia, EarlyView.
Abstract De novo variants in KCNQ2 cause neonatal onset developmental and epileptic encephalopathy (KCNQ2‐DEE; Online Mendelian Inheritance in Man #613720), most often by loss‐of‐function in vitro effects. In this study, we describe a neonatal onset DEE proband carrying a recurrent de novo KCNQ2 variant (c.794C>T; p.A265V) affecting the pore domain of ...
Ingride Luzio Gaspar, Gaetano Terrone, Giusy Carleo, Lidia Carotenuto, Francesco Miceli, Gabriella De Vita, Maurizio Taglialatela   +6 more
wiley   +1 more source

Mendelian and Non-Mendelian Inheritance of Three Isozymes in Peanut (Arachis hypogaea L.)1 [PDF]

, 1990
Uta Grieshammer, J. C. Wynne
openalex   +1 more source

Focal epilepsy with sensory seizures associated with arginine:glycine amidinotransferase deficiency: A clinical and advanced magnetic resonance imaging study

Epilepsia, EarlyView.
Abstract We aim to determine whether epilepsy can be considered part of the arginine:glycine amidinotransferase (AGAT) deficiency syndrome phenotype and to identify its associated electroclinical signatures. We reviewed clinical data from our center, identifying individuals with AGAT deficiency. Each individual underwent a dedicated epilepsy assessment
Francesco Fortunato, Roberta De Fiores, Ilaria Sammarra, Maria Celeste Bonacci, Maria Eugenia Caligiuri, Miriam Sturniolo, Iolanda Martino, Antonio Gambardella   +7 more
wiley   +1 more source

Effects of HMG CoA reductase (HMGCR) deficiency on skeletal muscle development

The FEBS Journal, EarlyView.
Three skeletal muscle diseases are linked to HMGCR, a key enzyme in cholesterol synthesis. These diseases include a muscular dystrophy associated with pathogenic variants in the HMGCR gene, statin‐associated myopathy, and autoimmune anti‐HMGCR myopathy.
Mekala Gunasekaran, Hannah R. Littel, Natalya M. Wells, Johnnie Turner, Gloriana Campos, Sree Venigalla, Elicia A. Estrella, Partha S. Ghosh, Audrey L. Daugherty, Seth A. Stafki, Louis M. Kunkel, A. Reghan Foley, Sandra Donkervoort, Carsten G. Bönnemann, Laura Toledo‐Bravo de Laguna, Andres Nascimento, Daniel Natera‐de Benito, Isabelle Draper, Christine C. Bruels, Christina A. Pacak, Peter B. Kang   +20 more
wiley   +1 more source

On the Non-Mendelian Inheritance of Rephanus sativa

, 1919
Masao Sô, Yoshitaka Imai, Yasufusa Terasawa   +2 more
openalex   +2 more sources

The Human Genome Project: the next decade [PDF]

, 2002
Gardiner, RM
core   +2 more sources

Practical Considerations When Using Mendelian Sampling Variances for Selection Decisions in Genomic Selection Programs

Journal of Animal Breeding and Genetics, EarlyView.
ABSTRACT The purpose of this work was to test the application of selection criteria that consider the genetic variances of future generations. This has not been done previously in numerically large livestock breeding programs based on estimated rather than assumed known marker effects.
Tobias A. M. Niehoff, Jan ten Napel, Mario P. L. Calus   +2 more
wiley   +1 more source