Genomic rearrangements of EYA1 account for a large fraction of families with BOR syndrome (Q28211555)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12404110%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

title

Genomic rearrangements of EYA1 account for a large fraction of families with BOR syndrome (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12404110%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12404110%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

author name string

Virginie S Vervoort

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12404110%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

Jane O'Brien

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12404110%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

Richard Schroer

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12404110%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

Albert Abbott

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12404110%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

Roger E Stevenson

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12404110%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

Charles E Schwartz

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12404110%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

language of work or name

English

0 references

publication date

1 November 2002

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12404110%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Human Genetics

14 December 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12404110%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

volume

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12404110%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

issue

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12404110%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

page(s)

757-766

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12404110%20AND%20SRC:MED&resulttype=core&format=json

Genetic aspects of the BOR syndrome—branchial fistulas, ear pits, hearing loss, and renal anomalies

14 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200877

Frequency of the branchio-oto-renal (BOR) syndrome in children with profound hearing loss.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200877

The earpits-deafness syndrome. Clinical and genetic aspects.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200877

Phenotypic manifestations of branchio-oto-renal syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200877

Autosomal dominant branchio-oto-renal syndrome--localization of a disease gene to chromosome 8q by linkage in a Dutch family

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200877

Localization of the gene for branchiootorenal syndrome to chromosome 8q.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200877

A proposed new contiguous gene syndrome on 8q consists of Branchio-Oto-Renal (BOR) syndrome, Duane syndrome, a dominant form of hydrocephalus and trapeze aplasia; implications for the mapping of the BOR gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200877

Refined localization of the branchiootorenal syndrome gene by linkage and haplotype analysis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200877

Narrowing the genetic interval and yeast artificial chromosome map in the branchio-oto-renal region on chromosome 8q.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200877

Characterization of a Translocation-Associated Deletion Defines the Candidate Region for the Gene Responsible for Branchio-Oto-Renal Syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200877

Detection of a megabase deletion in a patient with branchio-oto-renal syndrome (BOR) and tricho-rhino-phalangeal syndrome (TRPS): implications for mapping and cloning the BOR gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200877

Genomewide search and genetic localization of a second gene associated with autosomal dominant branchio-oto-renal syndrome: clinical and genetic implications

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200877

A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200877

Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200877

Branchio-oto-renal syndrome: identification of novel mutations, molecular characterization, mutation distribution, and prospects for genetic testing

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200877

Importance of clinical evaluation and molecular testing in the branchio-oto-renal (BOR) syndrome and overlapping phenotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200877

Mutations of a human homologue of the Drosophila eyes absent gene (EYA1) detected in patients with congenital cataracts and ocular anterior segment anomalies

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200877

Human NDUFB9 gene: genomic organization and a possible candidate gene associated with deafness disorder mapped to chromosome 8q13.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200877

Monoallelic mutation analysis (MAMA) for identifying germline mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200877

Tricho-rhino-phalangeal and branchio-oto syndromes in a family with an inherited rearrangement of chromosome 8q.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200877

Branchio-oto-renal syndrome: reduced penetrance and variable expressivity in four generations of a large kindred

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200877

Branchio-oto-renal syndrome: further delineation of an underdiagnosed syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200877

Localization of branchio-oto-renal (BOR) syndrome to a 3 Mb region of chromosome 8q

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200877

inferred from DOI database lookup

7 January 2021

based on heuristic

EYA1 nonsense mutation in a Japanese branchio-oto-renal syndrome family

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200877

inferred from DOI database lookup

7 January 2021

based on heuristic

Conversion of diploidy to haploidy

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200877

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/SJ.EJHG.5200877

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12404110%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12404110%20AND%20SRC:MED&resulttype=core&format=json