Genetic Counseling in Usher Syndrome: Linkage and mutational analysis of 10 Colombian families

Keyphrases

• Colombian Families 100%
• Usher Syndrome 100%
• Genetic Counseling 100%
• Linkage Analysis 100%
• Mutational Analysis 100%
• USH1B 75%
• Exon 50%
• USH2A 50%
• Affected Family Members 50%
• Phenotypic Characterization 25%
• DNA Sequencing 25%
• Pathologic 25%
• Hearing Impairment 25%
• Severe Hearing Loss 25%
• Homozygote 25%
• Clinical Type 25%
• Autosomal Recessive 25%
• Retinitis pigmentosa 25%
• Genotype-phenotype 25%
• Confirmed Diagnosis 25%
• DNA Studies 25%
• Vestibular Disorders 25%
• MYO7A Gene 25%
• Retinal Phenotype 25%
• DNA Variants 25%
• Congenital Sensorineural Deafness 25%
• Heterozygous State 25%
• USH1C 25%

INIS

• genetics 100%
• mutations 100%
• losses 50%
• dna 50%
• exons 50%
• phenotype 50%
• hearings 50%
• genes 25%
• diseases 25%
• congenital diseases 25%
• genotype 25%
• asymmetry 25%
• homozygotes 25%
• dna sequencing 25%
• thermal gravimetric analysis 25%

Biochemistry, Genetics and Molecular Biology

• Genetic Counseling 100%
• Gene Linkage 100%
• Exon 40%
• USH2A 40%
• Genotyping 20%
• Linkage Analysis 20%
• Autosomal Recessive Disorder 20%
• DNA Sequence 20%
• Homozygote 20%
• Retinitis pigmentosa 20%
• MYO7A 20%