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Nonsyndromic hearing loss: an analysis of audiograms


Nonsyndromic hearing loss: an analysis of audiograms


    Nonsyndromic Hearing Loss: An Analysis of Audiograms ...

      Abstract. We examined features of the audiograms of 136 individuals, from 28 families, affected by nonsyndromic genetic hearing loss. There were 83 (12 families) with autosomal dominant (AD) loss, 50 (15 families) with autosomal recessive (AR) loss, and 3 (1 family) with X-linked recessive loss. The main audiogram shapes found were sloping (50.3%), …

    Inherited nonsyndromic hearing loss. An audiovestibular ...


      Nonsyndromic Hearing Loss and Deafness, DFNA3 ...


        Nonsyndromic hearing loss: MedlinePlus Genetics


          COCH-related autosomal dominant nonsyndromic hearing loss ...

            The study data set comprised 983 audiograms (927 European-descent, 56 East Asian) from 317 individuals (277, 40) belonging to 55 families (38, 17) (Table S2). Each audiogram included hearing loss thresholds at up to six frequencies (250, 500, 1,000, 2,000, 4,000, and 8,000 Hz) for each ear and age at testing.

          (PDF) Splice-altering variant in COL11A1 as a cause of ...


            Confirmation of PDZD7 as a Nonsyndromic Hearing Loss …


              Inherited Nonsyndromic Hearing Loss: An Audiovestibular ...

                Objective: To study nonsyndromic progressive sensorineural hearing loss (SNHL) with significant linkage to the DFNA2 locus on chromosome 1p in a Dutch kindred. Design: A 6-generation family with 194 family members was studied. Of the presumably affected persons, 43 were examined in detail to obtain audiograms and 37 underwent vestibulo-ocular examination.

              AudioGene: refining the natural history of KCNQ4, GSDME ...

                This study’s 5-year audioprofiles were constructed from the largest reported combined data set of audiograms for non-syndromic autosomal dominant genetic deafness and provide the most precise temporal resolution (in 5-year bins) for the 4 genes studied. Each gene demonstrated a unique pattern of hearing loss.

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