Results 121 to 130 of about 43,318 (306)

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

Estimatives of components of variance (Individual REML) and the components of average (Individual BLUP) for the variables resistance to late leaf spot (LLS), early leaf spot (ELS) and rust (R) and 19 genotypes, during three consecutive years.

, 2015
* g: genotypic efect, u + g: genotypic average, GG: genetic gain, Na = new average, GR: general rank, Vg: genotypic variance, Vperm: variance of the permanent enviromental effects, Ve: residual variance, Vf: phenotypic variance, h2g = plot heritability ...
Alessandra Pereira Fávero (757839), Eduardo Leonardecz (226397), Ignácio José de Godoy (757838), Marcos Doniseti Michelotto (757835), Waldomiro Barioni Jr. (757836), Marcos Deon Vilela de Resende (757837)   +5 more
core   +1 more source

High‐Resolution MRI Revealed Different Etiology‐Specific Associations With Cerebral Infarction in Adult Moyamoya Vasculopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective High‐resolution MRI enables detailed assessment of intracranial vessel wall pathology in moyamoya vasculopathy. We aimed to classify adult moyamoya vasculopathy etiologies using high‐resolution MRI and to examine subtype‐specific associations between high‐resolution MRI features and ischemic infarction.
Guangsong Han, Jiachun Pan, Yuehui Hong, Xiaoyuan Fan, Ming Yao, Lixin Zhou, Yicheng Zhu, Feng Feng, Jun Ni   +8 more
wiley   +1 more source

GENETIC VARIABILITY IN CLONAL POPULATIONS OF JAVA CITRONELLA Cymbopogon winterianus JOWITT

Annals of Tropical Research, 1983
The nature and extent of variability and heritability were estimated in clonal populations of Java citronella, Cymbopogon winterianus Jowitt. A wide range of variability was observed.
KK Singh, NK Gupta
doaj  

On the additive and dominant variance and covariance of individuals within the genomic selection scope

, 2013
International audienceGenomic evaluation models can fit additive and dominant SNP effects. Under quantitative genetics theory, additive or breeding values of individuals are generated by substitution effects, which involve both biological additive and ...
Vitezica, Zulma, Varona, Luis, Legarra, Andres   +2 more
core   +1 more source

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

Genotypic Population Structure of Ascochyta Pinodes and Phoma Pinodella in Poland

, 2009
The genotypic populations structure of Ascochyta pinodes and Phoma pinodella was de ter mined across a hierarchy of spatial and temporal scale by using vegetative in compatibility system as phenotypic genetic marker.
Węgrzycki, Michał, Furgał-Węgrzycka, Helena   +1 more
core   +2 more sources

Variance Formulae for Correlation Measures of Linkage Disequilibrium

, 2016
<b><i>Background:</i></b> Linkage disequilibrium (LD) is the non-random association between alleles at different loci and remains important for disease mapping studies in humans.
David E.C. Cole, Mary L. Roop, David C. Hamilton   +2 more
core   +1 more source

Movement Disorders in Aicardi–Goutières Syndrome and Response to Immunomodulation

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT This study characterizes movement disorders and treatment responses in seven children with Aicardi–Goutières syndrome (AGS). We retrospectively evaluated motor phenotypes, neuroimaging, and interferon signatures in patients treated with baricitinib or anifrolumab. Spasticity affected all patients, while dystonia was present in 4/7.
Enrique Gonzalez Saez‐Diez, Monica Ferrer Socorro, Kathryn Yang, Nicole Battaglia, Zainab Zaman, Mariko Bennett, Adeline Vanderver, Pui Y. Lee, Lauren A. Henderson, Milena M. Andzelm, Darius Ebrahimi‐Fakhari   +10 more
wiley   +1 more source

Variance explained over allele frequency.

, 2017
The cumulative additive and dominance genetic variance which can be explained by markers whose frequencies, q, are ≤ x. Each color represents a different value of λ: the mean effects size of a new deleterious mutation. Shown here are the gene-based (GBR),
Kevin R. Thornton (54241), Jaleal S. Sanjak (3685258), Anthony D. Long (207329)   +2 more
core   +1 more source