Evidence map›Paper›PMID 9382104›Full record

ArticleAmerican journal of human genetics1997

A novel locus for autosomal dominant nonsyndromic hearing loss, DFNA13, maps to chromosome 6p.

M R Brown, M S Tomek, L Van Laer, S Smith, J B Kenyon, G Van Camp, R J Smith

Abstract read
In one paragraph

Article in American journal of human genetics, 1997. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

8 citing papers in PubMed.

  1. NovelJournal of pediatric genetics · 2020
    Article
  2. Genetic Hearing Loss and Gene Therapy.Genomics & informatics · 2018
    Article
  3. From Structure to Phenotype: Impact of Collagen Alterations on Human Health.International journal of molecular sciences · 2018
    Review
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

7 authors.

M R BrownMolecular Otolaryngology Research Laboratories, Department of Otolaryngology-Head and Neck Surgery, Iowa City, IA 52242, USA.
M S Tomek
L Van Laer
S Smith
J B Kenyon
G Van Camp
R J Smith

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Nonsyndromic hearing loss (NSHL) is the most common type of hearing impairment in the elderly. Environmental and hereditary factors play an etiologic role, although the relative contribution of each is unknown. To date, 39 NSHL genes have been localized. Twelve produce autosomal dominant hearing loss, most frequently postlingual in onset and progressive in nature. We have ascertained a large, multigenerational family in which a gene for autosomal dominant NSHL is segregating. Affected individuals experience progressive hearing loss beginning in the 2d-4th decades, eventually making the use of amplification mandatory. A novel locus, DFNA13, was identified on chromosome 6p; the disease gene maps to a 4-cM interval flanked by D6S1663 and D6S1691, with a maximum two-point LOD score of 6.409 at D6S299.

Indexed as

Chromosomes, Human, Pair 6AdolescentAdultAgedAge of OnsetChromosome MappingEuropeFemaleGenetic MarkersHearing Loss, SensorineuralHumansLod ScoreMalePedigreeUnited StatesGenetic Markers

Identifiers

PMID9382104
PMCPMC1715982

What OpenQuestion holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.