Genetic evaluation of hyperphenylalaninemia patients with tetrahydrobiopterin deficiency in Iranian population: Identification of four novel disease‐causing variants
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DOI: 10.1002/mgg3.2081
Abstract: Hyperphenylalaninemia (HPA) is the most common inborn error of amino acid metabolism worldwide. At least 2% of HPA cases are caused by a deficiency in tetrahydrobiopterin (BH4) metabolism. Genes such as QDPR and PTS are… read more here.
Keywords: genetic evaluation; causing variants; hyperphenylalaninemia; disease causing ... See more keywords
Forensic characterization and genetic evaluation in the Central Indian population using 27 Y-STRs
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DOI: 10.1007/s00414-020-02486-8
Abstract: Forensic characterization and genetic evaluation study in the 539 randomly selected unrelated adult healthy individuals belonging to the Central Indian population was undertaken. The study was performed using a multiplex of 27 Y-STRs incoporated in… read more here.
Keywords: indian population; central indian; genetic evaluation; forensic characterization ... See more keywords
Impact of incomplete pedigree data and independent culling level pre-selection on the genetic evaluation of livestock: A simulation study on lamb growth
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DOI: 10.1016/j.livsci.2017.02.011
Abstract: Abstract Incomplete pedigree data due to multiple-sire mating systems is an issue for extensive sheep livestock production systems that leads to inefficiency in genetic selection programs. Although paternity testing technologies can deal with this challenge,… read more here.
Keywords: replacement; sire data; pre selection; selection ... See more keywords
Alternative count Bayesian models for genetic evaluation of litter traits in pigs
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DOI: 10.1016/j.livsci.2019.05.006
Abstract: Abstract We compared Hurdle Poisson (Hupoisson), Zero Inflated Poisson (Zipoisson), Poisson and Gaussian Bayesian mixed models for genetic evaluation of litter traits in pigs (number of piglets born alive – NBA; number of piglets weaned… read more here.
Keywords: models genetic; traits pigs; evaluation; evaluation litter ... See more keywords
Model comparisons for genetic evaluation of gait type in Mangalarga Marchador horses
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DOI: 10.1016/j.livsci.2020.104168
Abstract: Abstract Mangalarga Marchador (MM) is a very important Brazilian gaited horse breed. These animals show two gait types, differing in proportion of lateral or diagonal movements. Thus, it is possible to consider the gait type… read more here.
Keywords: type; genetic evaluation; mangalarga marchador; gait type ... See more keywords
Statistical models for genetic evaluation of some first kidding and lifetime traits of the Egyptian Zaraibi goats
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DOI: 10.1016/j.smallrumres.2018.03.010
Abstract: Abstract The aim of the present study was to define the best fitting model for genetic evaluation of the Egyptian Zaraibi goats using three statistical models. Models differed based on the inclusion or exclusion of… read more here.
Keywords: zaraibi goats; egyptian zaraibi; genetic evaluation; lifetime traits ... See more keywords
Adult acute lymphoblastic leukemia in a resource-constrained setting: outcomes after expansion of genetic evaluation
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DOI: 10.1080/16078454.2022.2052602
Abstract: ABSTRACT Acute lymphoblastic leukemia (ALL) is a challenging disease with a growing genetic landscape, even though there is substantial gap between developed and non-developed countries when it comes to availability of such new technologies. This… read more here.
Keywords: genetic evaluation; lymphoblastic leukemia; year; acute lymphoblastic ... See more keywords
Model definition for genetic evaluation of purebred and crossbred lambs including heterosis.
Sign Up to like & getrecommendations! Published in 2022 at "Journal of animal science"
DOI: 10.1093/jas/skac188
Abstract: Crossbreeding is a common practice among commercial sheep producers to improve animal performance. However, genetic evaluation of U.S. sheep is performed within breed type (terminal sire, semi-prolific, and western range). While incorporating crossbred records may… read more here.
Keywords: genetic evaluation; purebred crossbred; heterosis; model ... See more keywords
RARE-18. GENETIC EVALUATION IN PATIENTS WITH CHOROID PLEXUS TUMORS
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DOI: 10.1093/neuonc/noaa222.729
Abstract: Abstract INTRODUCTION Choroid plexus tumors (CPT) are rare intraventricular neoplasms of epithelial origin. They usually occur in the 2nd year of life, corresponding to 0.4–0.6% of intracranial tumors in this age group. They are sub… read more here.
Keywords: plexus tumors; choroid plexus; patients choroid; evaluation patients ... See more keywords
Effects of management decisions on genetic evaluation of simulated calving records using random regression.
Sign Up to like & getrecommendations! Published in 2021 at "Translational animal science"
DOI: 10.1093/tas/txab078
Abstract: The objective of this study was to evaluate the effects of various data structures on the genetic evaluation for the binary phenotype of reproductive success. The data were simulated based on an existing pedigree and… read more here.
Keywords: management decisions; random regression; reproduce; genetic evaluation ... See more keywords
Proximal Hypospadias: Isolated Genital Condition or Marker of More?
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DOI: 10.1097/ju.0000000000000810
Abstract: PURPOSE The prevalence of endocrine/genetic anomalies among boys with proximal hypospadias is unknown. This study aims to describe the endocrine/genetic evaluation for boys with proximal hypospadias to inform who may have a difference/disorder of sex… read more here.
Keywords: endocrine genetic; proximal hypospadias; genetic evaluation; boys proximal ... See more keywords