(Q37424584)

20 August 2017

Enhancer deletions of the SHOX gene as a frequent cause of short stature: the essential role of a 250 kb downstream regulatory domain (English)

1 reference

20 August 2017

J Chen

1

1 reference

20 August 2017

G Wildhardt

2

1 reference

20 August 2017

Z Zhong

3

1 reference

20 August 2017

R Röth

4

1 reference

20 August 2017

B Weiss

5

1 reference

20 August 2017

D Steinberger

6

1 reference

20 August 2017

J Decker

7

1 reference

20 August 2017

W F Blum

8

1 reference

20 August 2017

G Rappold

9

1 reference

20 August 2017

language of work or name

English

0 references

publication date

2 July 2009

1 reference

Journal of Medical Genetics

20 August 2017

1 reference

20 August 2017

46

1 reference

20 August 2017

834-839

1 reference

20 August 2017

12

1 reference

Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence

20 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2778764

Consensus statement on the diagnosis and treatment of children with idiopathic short stature: a summary of the Growth Hormone Research Society, the Lawson Wilkins Pediatric Endocrine Society, and the European Society for Paediatric Endocrinology Wor

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2778764

Genome-wide association analysis identifies 20 loci that influence adult height

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2778764

Many sequence variants affecting diversity of adult human height

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2778764

Identification of ten loci associated with height highlights new biological pathways in human growth

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2778764

The diploid genome sequence of an individual human

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2778764

Genotypes and phenotypes in children with short stature: clinical indicators of SHOX haploinsufficiency

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2778764

The pseudoautosomal regions, SHOX and disease

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2778764

High incidence of SHOX anomalies in individuals with short stature.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2778764

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2778764

Position effects due to chromosome breakpoints that map approximately 900 Kb upstream and approximately 1.3 Mb downstream of SOX9 in two patients with campomelic dysplasia

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2778764

Long-range control of gene expression: emerging mechanisms and disruption in disease

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2778764

A global control region defines a chromosomal regulatory landscape containing the HoxD cluster

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2778764

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2778764

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2778764

SHOX mutations in dyschondrosteosis (Leri-Weill syndrome)

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2778764

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2778764

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2778764

Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2778764

Long-range conserved non-coding SHOX sequences regulate expression in developing chicken limb and are associated with short stature phenotypes in human patients.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2778764

Long-range upstream and downstream enhancers control distinct subsets of the complex spatiotemporal Sox9 expression pattern.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2778764

Transactivation function of an approximately 800-bp evolutionarily conserved sequence at the SHOX 3' region: implication for the downstream enhancer.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2778764

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

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2778764

Skeletal features and growth patterns in 14 patients with haploinsufficiency of SHOX: implications for the development of Turner syndrome

2 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19578035

12 December 2020

inferred from PubMed ID database lookup

Phenotypes Associated with SHOX Deficiency

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19578035

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1136/JMG.2009.067785

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/vqwucxycqnbijf3isbuto4vchi

30 July 2022

release_vqwucxycqnbijf3isbuto4vchi

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/vqwucxycqnbijf3isbuto4vchi

30 July 2022

https://api.fatcat.wiki/v0/release/vqwucxycqnbijf3isbuto4vchi

1 reference

30 July 2022

https://api.fatcat.wiki/v0/release/vqwucxycqnbijf3isbuto4vchi

1 reference

30 July 2022