(Q22010051)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10330347%20AND%20SRC:MED&resulttype=core&format=json

8 December 2019

title

X-linked late-onset sensorineural deafness caused by a deletion involving OA1 and a novel gene containing WD-40 repeats (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10330347%20AND%20SRC:MED&resulttype=core&format=json

Transducin beta like 1 X-linked

8 December 2019

main subject

1 reference

GOA release 2020-03-11

hearing

1 reference

GOA release 2020-03-11

1 reference

1

M T Bassi

M T

Bassi

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10330347%20AND%20SRC:MED&resulttype=core&format=json

8 December 2019

2

R S Ramesar

R S

Ramesar

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10330347%20AND%20SRC:MED&resulttype=core&format=json

8 December 2019

4

I M Winship

I M

Winship

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10330347%20AND%20SRC:MED&resulttype=core&format=json

8 December 2019

9

A Ballabio

A

Ballabio

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10330347%20AND%20SRC:MED&resulttype=core&format=json

8 December 2019

10

G Borsani

G

Borsani

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10330347%20AND%20SRC:MED&resulttype=core&format=json

8 December 2019

B Caciotti

3

B

Caciotti

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10330347%20AND%20SRC:MED&resulttype=core&format=json

8 December 2019

A De Grandi

5

A

De Grandi

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10330347%20AND%20SRC:MED&resulttype=core&format=json

8 December 2019

M Riboni

6

M

Riboni

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10330347%20AND%20SRC:MED&resulttype=core&format=json

8 December 2019

P L Townes

7

P L

Townes

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10330347%20AND%20SRC:MED&resulttype=core&format=json

8 December 2019

P Beighton

8

P

Beighton

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10330347%20AND%20SRC:MED&resulttype=core&format=json

8 December 2019

language of work or name

English

0 references

publication date

1 June 1999

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10330347%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

8 December 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10330347%20AND%20SRC:MED&resulttype=core&format=json

8 December 2019

volume

64

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10330347%20AND%20SRC:MED&resulttype=core&format=json

8 December 2019

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10330347%20AND%20SRC:MED&resulttype=core&format=json

8 December 2019

page(s)

1604-1616

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10330347%20AND%20SRC:MED&resulttype=core&format=json

OA1 Mutations and Deletions in X-Linked Ocular Albinism

8 December 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377903

Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377903

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377903

A gene from the Xp22.3 region shares homology with voltage-gated chloride channels

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377903

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377903

Cloning of a human homologue of the Xenopus laevis APX gene from the ocular albinism type 1 critical region

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377903

A cluster of sulfatase genes on Xp22.3: mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377903

Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377903

A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377903

Basic local alignment search tool

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377903

Crystal structure of a G-protein beta gamma dimer at 2.1A resolution

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377903

The genes for X-linked ocular albinism (OA1) and microphthalmia with linear skin defects (MLS): cloning and characterization of the critical regions

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377903

The ancient regulatory-protein family of WD-repeat proteins

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377903

Pfam: a comprehensive database of protein domain families based on seed alignments

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377903

'DNA Strider': a 'C' program for the fast analysis of DNA and protein sequences on the Apple Macintosh family of computers

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377903

Saccharomyces cerevisiae cdc15 mutants arrested at a late stage in anaphase are rescued by Xenopus cDNAs encoding N-ras or a protein with beta-transducin repeats

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377903

X-linked ocular albinism and sensorineural deafness: linkage to Xp22.3.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377903

A novel X gene with a widely transcribed Y-linked homologue escapes X-inactivation in mouse and human.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377903

A new nonsyndromic X-linked sensorineural hearing impairment linked to Xp21.2.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377903

Analysis of a 70 kb region on the right arm of yeast chromosome II.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377903

Repetitive segmental structure of the transducin beta subunit: homology with the CDC4 gene and identification of related mRNAs

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377903

The Prevalence of Hearing Impairment and Reported Hearing Disability among Adults in Great Britain

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377903

X chromosome inactivation of the human TIMP gene.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377903

Fishing for complements: finding genes by direct selection

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377903

Around the genomes: the Drosophila genome project

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377903

A novel locus for non-syndromic sensorineural deafness (DFN6) maps to chromosome Xp22.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377903

A high resolution deletion map of human chromosome Xp22.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377903

X-linked inheritance of ocular albinism with late-onset sensorineural deafness

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377903

X-linked ocular albinism. An oculocutaneous macromelanosomal disorder

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377903

Expression pattern of the Kallmann syndrome gene in the olfactory system suggests a role in neuronal targeting

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377903

Mapping of the murine Tbl1 gene reveals a new rearrangement between mouse and human X Chromosomes

29 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/10330347

12 December 2020

inferred from PubMed ID database lookup

A submicroscopic deletion in a patient with isolated X-linked ocular albinism (OA1)

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/10330347

12 December 2020

inferred from PubMed ID database lookup

An integrated physical and genetic map of a 35 Mb region on chromosome Xp22.3–Xp21.3

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/10330347

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1086/302408

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10330347%20AND%20SRC:MED&resulttype=core&format=json

release_prjj3odeubdsrb4ggz3yyjk3ki

8 December 2019

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/prjj3odeubdsrb4ggz3yyjk3ki

24 November 2022

mapped directly with Wikidata item

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10330347%20AND%20SRC:MED&resulttype=core&format=json

8 December 2019

PubMed publication ID

10330347

2 references