Evidence map›Paper›PMID 19229252›Full record

ArticleJournal of human genetics2009

Novel autosomal recessive non-syndromic hearing impairment locus (DFNB71) maps to chromosome 8p22-21.3.

Muhammad Salman Chishti, Kwanghyuk Lee, Merry-Lynn McDonald, Muhammad Jawad Hassan, Muhammad Ansar, Wasim Ahmad, Suzanne M Leal

Abstract read
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In one paragraph

Article in Journal of human genetics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

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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

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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

2 citing papers in PubMed.

  1. Genetic Hearing Loss and Gene Therapy.Genomics & informatics · 2018
    Article
  2. Article
4 · The record

Corrections and comments

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5 · Who and what money

Authors and funding

7 authors.

Muhammad Salman ChishtiDepartment of Biochemistry, Quaid-I-Azam University, Islamabad, Pakistan.
Kwanghyuk Lee
Merry-Lynn McDonald
Muhammad Jawad Hassan
Muhammad Ansar
Wasim Ahmad
Suzanne M Leal

Funding

Identification of Nonsyndromic Hearing Impairment GenesR01DC003594 · NIDCD · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI SUZANNE M LEAL · 2004 to 2026
$7.7M
GENOTYPING FOR LOCATING HUMAN DISEASE GENESN01HG065403 · NHGRI · JOHNS HOPKINS UNIVERSITY · PI VALLE, DAVID L · 1996 to 2000
$1.7M
ISOLATION OF NON SYNDROMIC HEARING LOSS GENESR29DC003594 · NIDCD · ROCKEFELLER UNIVERSITY · PI LEAL, SUZANNE MARGARET · 1998 to 2002
$345k
NHGRI NIH HHS N01 HG065403NIDCD NIH HHS DC03594NIDCD NIH HHS R01 DC003594NIDCD NIH HHS R29 DC003594
6 · The paper itself

Abstract

A novel ARNSHI (autosomal recessive non-syndromic hearing impairment) locus, DFNB71, was localized to 8p22-21.3. To map the locus, a whole-genome scan was carried out using DNA samples from a consanguineous seven-generational Pakistani family with profound prelingual ARNSHI. A maximum multipoint LOD score of 4.2 occurred at marker D8S261. The DFNB71 region of homozygosity and 3-unit support interval is flanked by markers D8S1130 and D8S1786. This region has a genetic distance of 19.1 cM and contains 10.6 Mb of sequence.

Indexed as

Chromosome MappingGenes, RecessiveAudiometryChromosomes, Human, Pair 8FemaleGenetic LociGenetic MarkersHearing LossHumansLod ScoreMalePedigreeGenetic Markers

Identifiers

PMID19229252
PMCPMC2747327

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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.