Phenotypic Characterization of Hereditary Hearing Impairment Linked to DFNA25
نویسندگان
چکیده
منابع مشابه
Phenotypic characterization of hereditary hearing impairment linked to DFNA25.
OBJECTIVES To clinically characterize a family with nonsyndromic sensorineural hearing loss linked to the DFNA25 gene and to assess whether mitochondrial mutations influence the penetrance of the phenotype. DESIGN Longitudinal clinical and basic science molecular genetic study. SETTING Academic medical center and molecular genetic research laboratory. PARTICIPANTS Members of a family with...
متن کاملPhenotypic characterization of DFNA24: prelingual progressive sensorineural hearing impairment.
This article describes the hearing impairment (HI) phenotype which segregates in a large multi-generation Swiss-German family with autosomal dominant nonsyndromic HI. The locus segregating within this pedigree is located on chromosome 4q35-qter and is designated as DFNA24. For this pedigree, audiometric data on 25 hearing-impaired family members are available. It was demonstrated that within th...
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OBJECTIVE To perform chromosomal mapping and clinical analysis of hereditary otosclerosis linked to the fourth locus for otosclerosis (OTSC4) in an Israeli family. DESIGN Pedigree study. SETTING A genetics of hearing loss research laboratory, a clinical genetics laboratory, a center for speech and hearing, and an otolaryngology department at a university and medical centers in Israel. SUB...
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Objective: The aim of this study is to establish a method by single nucleotide polymorphism detection from a single cell using the whole genomic amplification and restriction fragment length polymorphism-PCR (RFLPPCR). Methods: Genomic DNA was first prepared and wholly amplified from 80 biopsied blastomeres using the Sure Plex DNA Amplification System. Then, PCR was carried out on a single blas...
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ژورنال
عنوان ژورنال: Archives of Otolaryngology–Head & Neck Surgery
سال: 2003
ISSN: 0886-4470
DOI: 10.1001/archotol.129.8.830