(Q30480382)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16134132%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

title

Novel sequence variants in the TMC1 gene in Pakistani families with autosomal recessive hearing impairment (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16134132%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

1 reference

1 reference

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16134132%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

Maria H Chahrour

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16134132%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

14

Suzanne M Leal

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16134132%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

author name string

Regie Lyn P Santos

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16134132%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

Muhammad Wajid

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16134132%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

Mohammad Nasim Khan

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16134132%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

Nathan McArthur

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16134132%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

Thanh L Pham

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16134132%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

Attya Bhatti

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16134132%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

Saba Irshad

8

1 reference

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6 January 2020

Asif Mir

9

1 reference

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6 January 2020

Kai Yan

10

1 reference

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6 January 2020

Muhammad Ansar

12

1 reference

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6 January 2020

Wasim Ahmad

13

1 reference

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6 January 2020

publication date

1 October 2005

1 reference

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6 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16134132%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

volume

26

1 reference

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6 January 2020

issue

4

1 reference

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6 January 2020

page(s)

396

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16134132%20AND%20SRC:MED&resulttype=core&format=json

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

6 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909098

Novel TMC1 structural and splice variants associated with congenital nonsyndromic deafness in a Sudanese pedigree

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909098

Characterization of the transmembrane channel-like (TMC) gene family: functional clues from hearing loss and epidermodysplasia verruciformis

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909098

TMC and EVER genes belong to a larger novel family, the TMC gene family encoding transmembrane proteins

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909098

PROSITE: a documented database using patterns and profiles as motif descriptors

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909098

Human non-synonymous SNPs: server and survey

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909098

Structure and function of voltage-dependent ion channel regulatory beta subunits

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909098

Beethoven, a mouse model for dominant, progressive hearing loss DFNA36.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909098

Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909098

Evaluation of methods for the prediction of membrane spanning regions

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909098

Predicting transmembrane protein topology with a hidden Markov model: application to complete genomes

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909098

Allegro, a new computer program for multipoint linkage analysis

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909098

alpha-helical structural elements within the voltage-sensing domains of a K(+) channel

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909098

Primer3 on the WWW for general users and for biologist programmers

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909098

Comprehensive human genetic maps: individual and sex-specific variation in recombination

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909098

Gapped BLAST and PSI-BLAST: a new generation of protein database search programs

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909098

Faster sequential genetic linkage computations

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909098

CLUSTAL W: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909098

Kinetics of the receptor current in bullfrog saccular hair cells.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909098

A simple and efficient non-organic procedure for the isolation of genomic DNA from blood

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909098

The nature of inherited deafness in deafness mice

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909098

Inner ear pathology in the deafness mutant mouse

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909098

Early degeneration of sensory and ganglion cells in the inner ear of mice with uncomplicated genetic deafness (dn): preliminary observations

26 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/16134132

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1002/HUMU.9374

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16134132%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16134132%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

PubMed publication ID

16134132

1 reference