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Search Results to Regie Lyn P. Santos-Cortez

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One or more keywords matched the following items that are connected to Santos-Cortez, Regie Lyn

Item TypeName
Concept Genes, Duplicate
Concept Gene Expression Profiling
Concept Gene Regulatory Networks
Concept Gene Expression
Concept Polymorphism, Single Nucleotide
Concept Gene Rearrangement
Concept Genes, Dominant
Concept Sequence Homology
Concept Genome, Human
Concept Amino Acid Sequence
Concept Sequence Homology, Amino Acid
Concept Genetic Loci
Concept Gene Frequency
Concept Gene Duplication
Concept Base Sequence
Concept Alleles
Concept Genes, Recessive
Concept Molecular Sequence Data
Concept Gene Expression Regulation, Developmental
Concept Conserved Sequence
Concept Gene Expression Regulation
Concept RNA Splice Sites
Academic Article Middle ear microbiome differences in indigenous Filipinos with chronic otitis media due to a duplication in the A2ML1 gene.
Academic Article Autosomal-Recessive Hearing Impairment Due to Rare Missense Variants within S1PR2.
Academic Article Rare A2ML1 variants confer susceptibility to otitis media.
Academic Article Novel CLDN14 mutations in Pakistani families with autosomal recessive non-syndromic hearing loss.
Academic Article Novel autosomal recessive nonsyndromic hearing impairment locus DFNB90 maps to 7p22.1-p15.3.
Academic Article Novel sequence variants in the TMIE gene in families with autosomal recessive nonsyndromic hearing impairment.
Academic Article Phenotypic characterization of DFNA24: prelingual progressive sensorineural hearing impairment.
Academic Article A novel autosomal recessive nonsyndromic hearing impairment locus (DFNB42) maps to chromosome 3q13.31-q22.3.
Academic Article Novel mutations in the genes TGM1 and ALOXE3 underlying autosomal recessive congenital ichthyosis.
Academic Article Challenges and solutions for gene identification in the presence of familial locus heterogeneity.
Academic Article Novel OTOA mutations cause autosomal recessive non-syndromic hearing impairment in Pakistani families.
Academic Article DFNB68, a novel autosomal recessive non-syndromic hearing impairment locus at chromosomal region 19p13.2.
Academic Article The mapping of DFNB62, a new locus for autosomal recessive non-syndromic hearing impairment, to chromosome 12p13.2-p11.23.
Academic Article Localization of a novel autosomal recessive non-syndromic hearing impairment locus DFNB55 to chromosome 4q12-q13.2.
Academic Article FOXE3 mutations predispose to thoracic aortic aneurysms and dissections.
Academic Article A novel missense variant in the PNPLA1 gene underlies congenital ichthyosis in three consanguineous families.
Academic Article Rare-variant extensions of the transmission disequilibrium test: application to autism exome sequence data.
Academic Article A new autosomal recessive nonsyndromic hearing impairment locus DFNB96 on chromosome 1p36.31-p36.13.
Academic Article Novel TMPRSS3 variants in Pakistani families with autosomal recessive non-syndromic hearing impairment.
Academic Article Autosomal Recessive Nonsyndromic Hearing Impairment due to a Novel Deletion in the RDX Gene.
Academic Article DFNB89, a novel autosomal recessive nonsyndromic hearing impairment locus on chromosome 16q21-q23.2.
Academic Article Mutational Spectrum of MYO15A and the Molecular Mechanisms of DFNB3 Human Deafness.
Academic Article Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86.
Academic Article Exome sequencing identifies SMAD3 mutations as a cause of familial thoracic aortic aneurysm and dissection with intracranial and other arterial aneurysms.
Academic Article A novel autosomal recessive non-syndromic hearing impairment locus (DFNB47) maps to chromosome 2p25.1-p24.3.
Academic Article Novel sequence variants in the TMC1 gene in Pakistani families with autosomal recessive hearing impairment.
Academic Article Low prevalence of Connexin 26 (GJB2) variants in Pakistani families with autosomal recessive non-syndromic hearing impairment.
Academic Article Sequence variants in nine different genes underlying rare skin disorders in 10 consanguineous families.
Grant Otitis Media Susceptibility and Middle Ear Microbial Shifts due to Gene Variants
Academic Article A disease-causing novel missense mutation in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family.
Academic Article Identification of ASAH1 as a susceptibility gene for familial keloids.
Academic Article A homozygous missense mutation in SLC25A16 associated with autosomal recessive isolated fingernail dysplasia in a Pakistani family.
Concept Transcriptome
Concept Exome
Academic Article A2ML1 and otitis media: novel variants, differential expression, and relevant pathways.
Academic Article Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss.
Academic Article Confirmation of the Role of DHX38 in the Etiology of Early-Onset Retinitis Pigmentosa.
Academic Article Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability.
Academic Article The SLC26A4 c.706C>G (p.Leu236Val) Variant is a Frequent Cause of Hearing Impairment in Filipino Cochlear Implantees.
Academic Article Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly.
Academic Article Novel missense and 3'-UTR splice site variants in LHFPL5 cause autosomal recessive nonsyndromic hearing impairment.
Academic Article Molecular outcomes, clinical consequences, and genetic diagnosis of Oculocutaneous Albinism in Pakistani population.
Academic Article De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay.
Academic Article Disparities in discovery of pathogenic variants for autosomal recessive non-syndromic hearing impairment by ancestry.
Academic Article Identification of Novel Genes and Biological Pathways That Overlap in Infectious and Nonallergic Diseases of the Upper and Lower Airways Using Network Analyses.
Academic Article Novel Variants in Hearing Loss Genes and Associations With Audiometric Thresholds in a Multi-ethnic Cohort of US Patients With Cochlear Implants.
Academic Article Identification of Novel Candidate Genes and Variants for Hearing Loss and Temporal Bone Anomalies.
Academic Article Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency.
Academic Article ADAMTS1, MPDZ, MVD, and SEZ6: candidate genes for autosomal recessive nonsyndromic hearing impairment.
Academic Article The FUT2 Variant c.461G>A (p.Trp154*) Is Associated With Differentially Expressed Genes and Nasopharyngeal Microbiota Shifts in Patients With Otitis Media.

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