(Q44898241)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15146463%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

title

Branchio-oto-renal syndrome: the mutation spectrum in EYA1 and its phenotypic consequences (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15146463%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15146463%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

author name string

Eugene H Chang

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15146463%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

Maithilee Menezes

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15146463%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

Nicole C Meyer

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15146463%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

Robert A Cucci

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15146463%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

Virginie S Vervoort

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15146463%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

Charles E Schwartz

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15146463%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

publication date

1 June 2004

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15146463%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15146463%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

volume

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15146463%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15146463%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

page(s)

582-589

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15146463%20AND%20SRC:MED&resulttype=core&format=json

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

28 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20048

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20048

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20048

7 January 2021

The eyes absent gene: genetic control of cell survival and differentiation in the developing Drosophila eye.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20048

7 January 2021

Phenotypic manifestations of branchio-oto-renal syndrome.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20048

7 January 2021

Rapid detection by fluorescent multiplex PCR of exon deletions and duplications in the C1 inhibitor gene of hereditary angioedema patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20048

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20048

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20048

7 January 2021

A family affected by branchio-oto syndrome with EYA1 mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20048

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20048

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20048

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20048

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20048

7 January 2021

A simplified procedure for developing multiplex PCRs

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20048

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20048

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20048

7 January 2021

Preferential PCR amplification of alleles: mechanisms and solutions

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20048

7 January 2021

A modified multiplex PCR assay for detection of large deletions in MSH2 and MLH1

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20048

7 January 2021

Accurate diagnosis of carriers of deletions and duplications in Duchenne/Becker muscular dystrophy by fluorescent dosage analysis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20048

7 January 2021

Identifiers

DOI

10.1002/HUMU.20048

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15146463%20AND%20SRC:MED&resulttype=core&format=json

release_p5d4fyrmhvd6jeya2izwpzuysu

28 December 2019

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/p5d4fyrmhvd6jeya2izwpzuysu

24 November 2022

mapped directly with Wikidata item

1 reference