Home
Random
Nearby
Log in
Settings
Donate
About Wikidata
Disclaimers
Search
(Q80861506)
Watch
English
The novel human SHOX allelic variant database
scientific article published on 01 October 2007
In more languages
edit
Statements
instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PubMed publication ID
17726696
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17726696%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 January 2020
title
The novel human SHOX allelic variant database
(English)
1 reference
stated in
Europe PubMed Central
PubMed publication ID
17726696
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17726696%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 January 2020
author name string
Beate Niesler
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed publication ID
17726696
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17726696%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 January 2020
Ralph Röth
series ordinal
2
1 reference
stated in
Europe PubMed Central
PubMed publication ID
17726696
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17726696%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 January 2020
Steffi Wilke
series ordinal
3
1 reference
stated in
Europe PubMed Central
PubMed publication ID
17726696
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17726696%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 January 2020
Frank Fujimura
series ordinal
4
1 reference
stated in
Europe PubMed Central
PubMed publication ID
17726696
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17726696%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 January 2020
Christine Fischer
series ordinal
5
1 reference
stated in
Europe PubMed Central
PubMed publication ID
17726696
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17726696%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 January 2020
Gudrun Rappold
series ordinal
6
1 reference
stated in
Europe PubMed Central
PubMed publication ID
17726696
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17726696%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 January 2020
publication date
1 October 2007
1 reference
stated in
Europe PubMed Central
PubMed publication ID
17726696
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17726696%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 January 2020
published in
Human Mutation
1 reference
stated in
Europe PubMed Central
PubMed publication ID
17726696
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17726696%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 January 2020
volume
28
1 reference
stated in
Europe PubMed Central
PubMed publication ID
17726696
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17726696%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 January 2020
issue
10
1 reference
stated in
Europe PubMed Central
PubMed publication ID
17726696
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17726696%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 January 2020
page(s)
933-938
1 reference
stated in
Europe PubMed Central
PubMed publication ID
17726696
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17726696%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 January 2020
cites work
SHOX mutations in dyschondrosteosis (Leri-Weill syndrome)
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20542
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A novel class of Pseudoautosomal region 1 deletions downstream of SHOX is associated with Leri-Weill dyschondrosteosis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20542
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
PAR1 deletions downstream ofSHOX are the most frequent defect in a Spanish cohort of Léri-Weill dyschondrosteosis (LWD) probands
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20542
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identification of short stature caused by SHOX defects and therapeutic effect of recombinant human growth hormone
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20542
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The pseudoautosomal regions, SHOX and disease
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20542
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
MuStaR and other software for locus-specific mutation databases
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20542
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The short stature homeobox gene SHOX is involved in skeletal abnormalities in Turner syndrome.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20542
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20542
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
PHOG, a candidate gene for involvement in the short stature of Turner syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20542
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
LOVD: easy creation of a locus-specific sequence variation database using an "LSDB-in-a-box" approach
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20542
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Transactivation function of an approximately 800-bp evolutionarily conserved sequence at the SHOX 3' region: implication for the downstream enhancer.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20542
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identification and characterization of different SHOX gene deletions in patients with Leri-Weill dyschondrosteosys by MLPA assay
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20542
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
High incidence of SHOX anomalies in individuals with short stature.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20542
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The short stature homeodomain protein SHOX induces cellular growth arrest and apoptosis and is expressed in human growth plate chondrocytes
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20542
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Deletion of the SHOX gene in patients with short stature of unknown cause
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20542
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Expression of SHOX in human fetal and childhood growth plate
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20542
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The human SHOX mutation database
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20542
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
FISH-deletion mapping defines a 270-kb short stature critical interval in the pseudoautosomal region PAR1 on human sex chromosomes
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20542
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20542
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The Leri-Weill and Turner syndrome homeobox gene SHOX encodes a cell-type specific transcriptional activator
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20542
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Deletions of the homeobox gene SHOX (short stature homeobox) are an important cause of growth failure in children with short stature
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20542
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Genotypes and phenotypes in children with short stature: clinical indicators of SHOX haploinsufficiency
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20542
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Long-range conserved non-coding SHOX sequences regulate expression in developing chicken limb and are associated with short stature phenotypes in human patients.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20542
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Phenotypic variation and genetic heterogeneity in Léri-Weill syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20542
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Alteration of DNA binding, dimerization, and nuclear translocation of SHOX homeodomain mutations identified in idiopathic short stature and Leri-Weill dyschondrosteosis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20542
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20542
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
SHOX mutations detected by FISH and direct sequencing in patients with short stature
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20542
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1002/HUMU.20542
1 reference
stated in
Europe PubMed Central
PubMed publication ID
17726696
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17726696%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 January 2020
PubMed publication ID
17726696
1 reference
stated in
Europe PubMed Central
PubMed publication ID
17726696
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17726696%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 January 2020
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