(Q36930156)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16597678%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

title

High incidence of SHOX anomalies in individuals with short stature (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16597678%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16597678%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Valérie Cormier-Daire

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16597678%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

author name string

M Rosilio

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16597678%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

A Munnich

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16597678%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

French SHOX GeNeSIS Module

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16597678%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

language of work or name

English

0 references

publication date

5 April 2006

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16597678%20AND%20SRC:MED&resulttype=core&format=json

Journal of Medical Genetics

19 January 2020

published in

1 reference

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19 January 2020

volume

43

1 reference

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19 January 2020

issue

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16597678%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

page(s)

735-739

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16597678%20AND%20SRC:MED&resulttype=core&format=json

A novel class of Pseudoautosomal region 1 deletions downstream of SHOX is associated with Leri-Weill dyschondrosteosis

19 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564573

SHOX point mutations and deletions in Leri-Weill dyschondrosteosis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564573

Deletions of the homeobox gene SHOX (short stature homeobox) are an important cause of growth failure in children with short stature

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564573

SHOX point mutations in dyschondrosteosis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564573

Evidence for heterogeneity in recombination in the human pseudoautosomal region: high resolution analysis by sperm typing and radiation-hybrid mapping

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564573

Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564573

SHOX mutations in dyschondrosteosis (Leri-Weill syndrome)

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564573

PHOG, a candidate gene for involvement in the short stature of Turner syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564573

Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564573

Auxology is a valuable instrument for the clinical diagnosis of SHOX haploinsufficiency in school-age children with unexplained short stature

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564573

Prevalence of mutations in the short stature homeobox containing gene (SHOX) in Madelung deformity of childhood

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564573

SHOXHaploinsufficiency and Leri-Weill Dyschondrosteosis: Prevalence and Growth Failure in Relation to Mutation, Sex, and Degree of Wrist Deformity

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564573

Phenotypic variation and genetic heterogeneity in Léri-Weill syndrome

4 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/16597678

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMG.2006.040998

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16597678%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16597678%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

PubMed publication ID

16597678

1 reference