"phenotype-genotype correlation" · 3 results

Identification of DNA Methylation Episignatures for Classification and Phenotype/Genotype Correlation in Mendelian Neurodevelopmental Disorders

Reilly, JohnThe University of Western Ontario2022

… effects on the methylation profiles and ensuing phenotypes 3) determine effectiveness of episignature assessment in classifying neurodevelopmental disorders in paralogous genes, 4) assessing phenotypic overlap between distinct neurodevelopmental disorders and correlation to their methylation …

uwo Repository record for Identification of DNA Methylation Episignatures for Classification and Phenotype/Genotype Correlation in Mendelian Neurodevelopmental Disorders (opens in a new tab)

Molecular Genetics of Usher Syndrome: Mutation Screening Studies and Discovery of the Usher Syndrome Type IIC Gene, the Very Large G-Protein Coupled Receptor (VLGR1).

Weston, Michael DorseyCreighton University2004

… type VI domain. To define the spectrum of Usher phenotypes attributable to USH2A mutations, DNA from patients with a referring diagnosis of USHI, USHII, USHIII, USH-atypical and autosomal recessive retinitis pigmentosa (ARRP) were analyzed by a 2299delG ARMS™ assay. Eight hundred and forty seven …

creighton Repository record for Molecular Genetics of Usher Syndrome: Mutation Screening Studies and Discovery of the Usher Syndrome Type IIC Gene, the Very Large G-Protein Coupled Receptor (VLGR1). (opens in a new tab)

Genotypic Expression of Traits on Craniofacial Hard Tissue for Positive Identification Purposes in a Modern European-American Skeletal Collection

Afra, KamarTexas State University2019

No abstract prepared.

texas-state Repository record for Genotypic Expression of Traits on Craniofacial Hard Tissue for Positive Identification Purposes in a Modern European-American Skeletal Collection (opens in a new tab)

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Identification of DNA Methylation Episignatures for Classification and Phenotype/Genotype Correlation in Mendelian Neurodevelopmental Disorders

Molecular Genetics of Usher Syndrome: Mutation Screening Studies and Discovery of the Usher Syndrome Type IIC Gene, the Very Large G-Protein Coupled Receptor (VLGR1).

Genotypic Expression of Traits on Craniofacial Hard Tissue for Positive Identification Purposes in a Modern European-American Skeletal Collection