Home
Random
Nearby
Log in
Settings
Donate
About Wikidata
Disclaimers
Search
(Q56592224)
Watch
English
A family affected by branchio-oto syndrome with EYA1 mutations
No description defined
In more languages
default for all languages
No label defined
No description defined
edit
Statements
instance of
scholarly article
0 references
title
A family affected by branchio-oto syndrome with EYA1 mutations
(English)
0 references
author name string
Satoshi Fukuda
series ordinal
1
0 references
Tsutomu Kuroda
series ordinal
2
0 references
Eiji Chida
series ordinal
3
0 references
Rie Shimizu
series ordinal
4
0 references
Shin-ichi Usami
series ordinal
5
0 references
Eiko Koda
series ordinal
6
0 references
Satoko Abe
series ordinal
7
0 references
Atsushi Namba
series ordinal
8
0 references
Ken Kitamura
series ordinal
9
0 references
Yukio Inuyama
series ordinal
10
0 references
publication date
May 2001
0 references
published in
Auris Nasus Larynx
0 references
volume
28
0 references
page(s)
S7-S11
0 references
cites work
Autosomal dominant duplication of the renal collecting system, hearing loss, and external ear anomalies: a new syndrome?
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0385-8146%2801%2900082-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Branchio-oto-renal syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0385-8146%2801%2900082-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Tricho-rhino-phalangeal and branchio-oto syndromes in a family with an inherited rearrangement of chromosome 8q.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0385-8146%2801%2900082-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Refined localization of the branchiootorenal syndrome gene by linkage and haplotype analysis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0385-8146%2801%2900082-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Localization of branchio-oto-renal (BOR) syndrome to a 3 Mb region of chromosome 8q
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0385-8146%2801%2900082-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0385-8146%2801%2900082-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Branchio-oto-renal dysplasia and branchio-oto dysplasia: two distinct autosomal dominant disorders.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0385-8146%2801%2900082-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
EYA1 nonsense mutation in a Japanese branchio-oto-renal syndrome family
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0385-8146%2801%2900082-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0385-8146%2801%2900082-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Branchio-oto-renal syndrome: identification of novel mutations, molecular characterization, mutation distribution, and prospects for genetic testing
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0385-8146%2801%2900082-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
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
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0385-8146%2801%2900082-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Eya1 expression in the developing ear and kidney: towards the understanding of the pathogenesis of Branchio-Oto-Renal (BOR) syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0385-8146%2801%2900082-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Eya1-deficient mice lack ears and kidneys and show abnormal apoptosis of organ primordia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0385-8146%2801%2900082-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Importance of clinical evaluation and molecular testing in the branchio-oto-renal (BOR) syndrome and overlapping phenotypes
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0385-8146%2801%2900082-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Exclusion of the branchio-oto-renal syndrome locus (EYA1) from patients with branchio-oculo-facial syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0385-8146%2801%2900082-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Genomewide search and genetic localization of a second gene associated with autosomal dominant branchio-oto-renal syndrome: clinical and genetic implications
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0385-8146%2801%2900082-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1016/S0385-8146(01)00082-7
0 references
Sitelinks
Wikipedia
(0 entries)
edit
Wikibooks
(0 entries)
edit
Wikinews
(0 entries)
edit
Wikiquote
(0 entries)
edit
Wikisource
(0 entries)
edit
Wikiversity
(0 entries)
edit
Wikivoyage
(0 entries)
edit
Wiktionary
(0 entries)
edit
Multilingual sites
(0 entries)
edit