(Q34560844)

3 August 2017

title

Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42 (English)

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3 August 2017

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Michael S. Hildebrand

8

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3 August 2017

29

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3 August 2017

10

Gudrun Nürnberg

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Christian Kubisch

42

Christian Kubisch

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Kwanghyuk Lee

3

Kwanghyuk Lee

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3 August 2017

Simon von Ameln

6

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Robert J. Morell

Robert J Morell

14

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Sulman Basit

Sulman Basit

12

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Peter G. Gillespie

Peter G Gillespie

30

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Peter Nürnberg

31

Peter Nürnberg

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3 August 2017

Matthias Hammerschmidt

37

Matthias Hammerschmidt

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3 August 2017

32

Bernd Wollnik

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3 August 2017

38

Thomas B Friedman

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3 August 2017

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Wasim Ahmad

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3 August 2017

33

Saima Riazuddin

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3 August 2017

40

Suzanne M Leal

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3 August 2017

34

Richard J H Smith

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3 August 2017

39

Sheikh Riazuddin

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3 August 2017

21

Shaheen N Khan

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3 August 2017

2

Atteeq Ur Rehman

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3 August 2017

19

Rehan S Shaikh

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3 August 2017

16

A Eliot Shearer

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3 August 2017

Guntram Borck

1

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3 August 2017

Hans-Martin Pogoda

4

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3 August 2017

Naseebullah Kakar

5

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3 August 2017

Nicolas Grillet

7

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3 August 2017

Zubair M Ahmed

9

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3 August 2017

Muhammad Ansar

11

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3 August 2017

Qamar Javed

13

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3 August 2017

Nabilah Nasreen

15

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3 August 2017

Adeel Ahmad

17

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3 August 2017

Kimia Kahrizi

18

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3 August 2017

Rana A Ali

20

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3 August 2017

Ingrid Goebel

22

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3 August 2017

Nicole C Meyer

23

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3 August 2017

William J Kimberling

24

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3 August 2017

Jennifer A Webster

25

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3 August 2017

Dietrich A Stephan

26

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3 August 2017

Martin R Schiller

27

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3 August 2017

Melanie Bahlo

28

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3 August 2017

Ulrich Müller

36

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3 August 2017

Jamil Ahmad

41

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3 August 2017

language of work or name

English

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publication date

20 January 2011

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American Journal of Human Genetics

3 August 2017

published in

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3 August 2017

volume

88

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3 August 2017

issue

2

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3 August 2017

page(s)

127-137

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Hearing impairment: a panoply of genes and functions

3 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3035704

MutationTaster evaluates disease-causing potential of sequence alterations

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3035704

Targeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3035704

Mutations in TPRN cause a progressive form of autosomal-recessive nonsyndromic hearing loss

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3035704

Mechanotransduction by hair cells: models, molecules, and mechanisms

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3035704

Mutations in LOXHD1, an evolutionarily conserved stereociliary protein, disrupt hair cell function in mice and cause progressive hearing loss in humans

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3035704

Noncoding mutations of HGF are associated with nonsyndromic hearing loss, DFNB39.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3035704

Calnuc binds to LRP9 and affects its endosomal sorting

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3035704

Liver-specific loss of lipolysis-stimulated lipoprotein receptor triggers systemic hyperlipidemia in mice

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3035704

Mouse models for human hereditary deafness

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3035704

Human hereditary hearing impairment: mouse models can help to solve the puzzle

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3035704

Positional cloning of "Lisch-Like", a candidate modifier of susceptibility to type 2 diabetes in mice

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3035704

Quiet as a mouse: dissecting the molecular and genetic basis of hearing

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3035704

A forward genetics screen in mice identifies recessive deafness traits and reveals that pejvakin is essential for outer hair cell function

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3035704

Tricellulin is a tight-junction protein necessary for hearing

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3035704

Signatures from tissue-specific MPSS libraries identify transcripts preferentially expressed in the mouse inner ear.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3035704

Non-syndromic, autosomal-recessive deafness

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3035704

The genetics of hearing and balance in zebrafish

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3035704

ALOHOMORA: a tool for linkage analysis using 10K SNP array data

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3035704

Low prevalence of Connexin 26 (GJB2) variants in Pakistani families with autosomal recessive non-syndromic hearing impairment

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3035704

Characterization of a novel immunoglobulin-like domain containing receptor

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3035704

BLAST: at the core of a powerful and diverse set of sequence analysis tools

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3035704

Genetic insights into the morphogenesis of inner ear hair cells.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3035704

Mutations in the gamma-actin gene (ACTG1) are associated with dominant progressive deafness (DFNA20/26).

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3035704

Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3035704

Merlin--rapid analysis of dense genetic maps using sparse gene flow trees

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3035704

Mutations in the gene encoding tight junction claudin-14 cause autosomal recessive deafness DFNB29.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3035704

Developmental evolutionary biology of the vertebrate ear: conserving mechanoelectric transduction and developmental pathways in diverging morphologies

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3035704

Allegro, a new computer program for multipoint linkage analysis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3035704

PedCheck: a program for identification of genotype incompatibilities in linkage analysis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3035704

dino and mercedes, two genes regulating dorsal development in the zebrafish embryo.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3035704

SLC26A4 mutation spectrum associated with DFNB4 deafness and Pendred's syndrome in Pakistanis.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3035704

Lipolysis stimulated lipoprotein receptor: a novel molecular link between hyperlipidemia, weight gain, and atherosclerosis in mice

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3035704

A novel autosomal recessive nonsyndromic hearing impairment locus (DFNB42) maps to chromosome 3q13.31-q22.3.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3035704

Genetic analysis of vertebrate sensory hair cell mechanosensation: the zebrafish circler mutants

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3035704

Identification of a new locus for autosomal dominant non-syndromic hearing impairment (DFNA7) in a large Norwegian family.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3035704

GRR: graphical representation of relationship errors

27 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21255762

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2010.12.011

1 reference

3 August 2017

1 reference

3 August 2017

1 reference