Results 201 to 210 of about 73,771 (300)

First-degree relationships and genotyping errors deciphered by a high-density SNP array in a Duroc × Iberian pig cross. [PDF]

open access: yesBMC Genom Data, 2022
Gomez-Raya L   +4 more
europepmc   +1 more source

Differential Impact of BMI‐Associated Genetic Variants on Breast Cancer Risk: Insights From Mediation Analysis

open access: yesCancer Science, EarlyView.
This mediation analysis revealed that two BMI‐associated genetic variants, BDNF rs6265 and FTO rs1421085, may influence postmenopausal breast cancer risk through changes in BMI, and that BDNF rs6265 may also exert a direct effect through pathways independent of BMI.
Yuri Ando   +11 more
wiley   +1 more source

Mixed Gonadal Dysgenesis: A Comprehensive Review of Clinical Spectrum, Diagnostic Strategies, and Management Approaches

open access: yesClinical Endocrinology, EarlyView.
ABSTRACT Background Mixed gonadal dysgenesis (MGD) is a rare form of differences in sex development (DSD) typically associated with 45,X/46,XY mosaicism. The phenotypic presentation of MGD varies from atypical genitalia to typical male or female appearances often associated with Turner stigmata.
Dinesh Giri   +6 more
wiley   +1 more source

Identifying individuals with rare disease variants by inferring shared ancestral haplotypes from SNP array data. [PDF]

open access: yesNAR Genom Bioinform
Robertson E   +9 more
europepmc   +1 more source

Genome-Wide Association Study of Kernel Traits Using a 35K SNP Array in Bread Wheat (Triticum aestivum L.). [PDF]

open access: yesFront Plant Sci, 2022
Wang P   +7 more
europepmc   +1 more source

High Concordance of Copy Number Variants Detected by Chromosomal Microarray and Exome Sequencing in Clinical Diagnostics

open access: yesClinical Genetics, EarlyView.
To assess the relevance of exome sequencing as a first‐tier diagnostic tool, three aspects were investigated: detection of copy number variants (CNVs) from exomes as compared to chromosomal microarray, clinically‐relevant CNVs across all sizes, and additional diagnostic utilities (uniparental disomy and triploidy).
Rivka Birnbaum   +13 more
wiley   +1 more source

Genetic Landscape of Robin Sequence: A Systematic Review

open access: yesClinical Genetics, EarlyView.
This systematic review summarizes the genetic landscape of Robin sequence (RS), highlighting key differences between isolated and non‐isolated forms and emphasizing the role of up‐to‐date genetic testing for diagnosis and clinical management. ABSTRACT Robin sequence (RS) is a congenital condition characterized by micrognathia, glossoptosis, and upper ...
Shirley van de Velde   +8 more
wiley   +1 more source

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