[go: up one dir, main page]
More Web Proxy on the site http://driver.im/

Abu-Amero et al., 2011 - Google Patents

Analysis of the VSX1 gene in keratoconus patients from Saudi Arabia

Abu-Amero et al., 2011

View HTML
Document ID
10601133720597724214
Author
Abu-Amero K
Kalantan H
Al-Muammar A
Publication year
Publication venue
Molecular vision

External Links

Snippet

Methods We sequenced the entire coding region, exon-intron boundaries in clinically confirmed keratoconus patients (n= 55) and 50 ethnically matched healthy controls. All cases and controls were unrelated. Results Sequencing VSX1 revealed the presence of five …
Continue reading at www.ncbi.nlm.nih.gov (HTML) (other versions)

Classifications

    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING OR TESTING PROCESSES INVOLVING ENZYMES OR MICRO-ORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00Measuring or testing processes involving enzymes, nucleic acids or micro-organisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68Measuring or testing processes involving enzymes, nucleic acids or micro-organisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6876Hybridisation probes
    • C12Q1/6883Hybridisation probes for diseases caused by alterations of genetic material
    • C12Q1/6886Hybridisation probes for diseases caused by alterations of genetic material for cancer
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING OR TESTING PROCESSES INVOLVING ENZYMES OR MICRO-ORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q2600/00Oligonucleotides characterized by their use
    • C12Q2600/156Polymorphic or mutational markers
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING OR TESTING PROCESSES INVOLVING ENZYMES OR MICRO-ORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00Measuring or testing processes involving enzymes, nucleic acids or micro-organisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68Measuring or testing processes involving enzymes, nucleic acids or micro-organisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6876Hybridisation probes
    • C12Q1/6888Hybridisation probes for detection or identification of organisms
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING OR TESTING PROCESSES INVOLVING ENZYMES OR MICRO-ORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q2600/00Oligonucleotides characterized by their use
    • C12Q2600/158Expression markers
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING OR TESTING PROCESSES INVOLVING ENZYMES OR MICRO-ORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q2600/00Oligonucleotides characterized by their use
    • C12Q2600/172Haplotypes
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING OR TESTING PROCESSES INVOLVING ENZYMES OR MICRO-ORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q2600/00Oligonucleotides characterized by their use
    • C12Q2600/106Pharmacogenomics, i.e. genetic variability in individual responses to drugs and drug metabolism

Similar Documents

Publication Publication Date Title
Abu-Amero et al. Analysis of the VSX1 gene in keratoconus patients from Saudi Arabia
Hansen et al. Genetic heterogeneity in microcornea-cataract: five novel mutations in CRYAA, CRYGD, and GJA8
Tang et al. Genomewide linkage scan in a multigeneration Caucasian pedigree identifies a novel locus for keratoconus on chromosome 5q14. 3-q21. 1
Saee-Rad et al. Mutation analysis of VSX1 and SOD1 in Iranian patients with keratoconus
Ayala-Lugo et al. Variation in optineurin (OPTN) allele frequencies between and within populations
Moschos et al. Polymorphism analysis of VSX1 and SOD1 genes in Greek patients with keratoconus
Tang et al. Three VSX1 gene mutations, L159M, R166W, and H244R, are not associated with keratoconus
Tsuchihashi et al. Complement factor H and high-temperature requirement A-1 genotypes and treatment response of age-related macular degeneration
Jaimes et al. Prevalence of high-risk alleles in the LOXL1 gene and its association with pseudoexfoliation syndrome and exfoliation glaucoma in a Latin American population
Puomila et al. Dominant optic atrophy: correlation between clinical and molecular genetic studies
Liskova et al. Molecular analysis of the VSX1 gene in familial keratoconus
Xu et al. Novel PRPF31 mutations associated with Chinese autosomal dominant retinitis pigmentosa patients
Souzeau et al. PAX6 molecular analysis and genotype–phenotype correlations in families with aniridia from Australasia and Southeast Asia
Prasov et al. Novel TMEM98, MFRP, PRSS56 variants in a large United States high hyperopia and nanophthalmos cohort
Paliwal et al. A novel VSX1 mutation identified in an individual with keratoconus in India
Vincent et al. Screening the visual system homeobox 1 gene in keratoconus and posterior polymorphous dystrophy cohorts identifies a novel variant
Firasat et al. Primary congenital glaucoma localizes to chromosome 14q24. 2-24.3 in two consanguineous Pakistani families
Mabuchi et al. Analysis of myocilin gene mutations in Japanese patients with normal tension glaucoma and primary open‐angle glaucoma
Skorodumova et al. CTG18. 1 expansion is the best classifier of late-onset Fuchs' corneal dystrophy among 10 biomarkers in a cohort from the European part of Russia
Summers et al. Anterior segment mesenchymal dysgenesis in a large Australian family is associated with the recurrent 17 bp duplication in PITX3
Milanowski et al. Associations between OPA1, MFN1, and MFN2 polymorphisms and primary open angle glaucoma in Polish participants of European ancestry
Sanchez Tocino et al. Phenotypic high myopia in X-linked retinitis pigmentosa secondary to a novel mutation in the RPGR gene
Paliwal et al. Familial segregation of a VSX1 mutation adds a new dimension to its role in the causation of keratoconus
Cheng et al. A 556 kb deletion in the downstream region of the PAX6 gene causes familial aniridia and other eye anomalies in a Chinese family
Gaier et al. Diagnostic genetic testing for patients with bilateral optic neuropathy and comparison of clinical features according to OPA1 mutation status