A novel class of Pseudoautosomal region 1 deletions downstream of SHOX is associated with Leri-Weill dyschondrosteosis (Q24536310)

5 July 2017

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

1 reference

5 July 2017

Valérie Cormier-Daire

14

11

Darya Gorbenko del Blanco

Valérie Cormier-Daire

0 references

Darya Gorbenko del Blanco

4

0 references

Celine Huber

Céline Huber

3

0 references

Angel Campos-Barros

Angel Campos-Barros

10

0 references

Karen E Heath

Karen E Heath

12

0 references

Jesús Argente

Jesús Argente

9

0 references

Sara Benito-Sanz

Sara Benito-Sanz

1

0 references

author name string

N Simon Thomas

2

1 reference

5 July 2017

Miriam Aza-Carmona

5

1 reference

5 July 2017

John A Crolla

6

1 reference

5 July 2017

Vivienne Maloney

7

1 reference

5 July 2017

Gudrun Rappold

8

1 reference

5 July 2017

language of work or name

English

0 references

publication date

15 August 2005

1 reference

American Journal of Human Genetics

5 July 2017

1 reference

5 July 2017

77

1 reference

5 July 2017

533-544

1 reference

5 July 2017

4

1 reference

The DNA sequence of the human X chromosome

5 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1275603

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1275603

SHOX mutations in dyschondrosteosis (Leri-Weill syndrome)

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1275603

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1275603

Tandem repeats finder: a program to analyze DNA sequences

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1275603

Scanning Human Gene Deserts for Long-Range Enhancers

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1275603

Crossover clustering and rapid decay of linkage disequilibrium in the Xp/Yp pseudoautosomal gene SHOX

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1275603

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1275603

The Leri-Weill and Turner syndrome homeobox gene SHOX encodes a cell-type specific transcriptional activator

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1275603

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1275603

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1275603

Genome architecture, rearrangements and genomic disorders

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1275603

Cytogenetic analysis using quantitative, high-sensitivity, fluorescence hybridization

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1275603

Identification of a major recombination hotspot in patients with short stature and SHOX deficiency

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1275603

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1275603

The short stature homeodomain protein SHOX induces cellular growth arrest and apoptosis and is expressed in human growth plate chondrocytes

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1275603

Transcriptional and translational regulation of the Leri-Weill and Turner syndrome homeobox gene SHOX.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1275603

SHOX point mutations and deletions in Leri-Weill dyschondrosteosis

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1275603

The short stature homeobox gene SHOX is involved in skeletal abnormalities in Turner syndrome.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1275603

A simple, efficient method for the separate isolation of RNA and DNA from the same cells

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1275603

SHOX mutations detected by FISH and direct sequencing in patients with short stature

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1275603

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

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1275603

Identification of short stature caused by SHOX defects and therapeutic effect of recombinant human growth hormone

29 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/16175500

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Phenotypic variation and genetic heterogeneity in Léri-Weill syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/16175500

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Analysis of short stature homeobox-containing gene ( SHOX ) and auxological phenotype in dyschondrosteosis and isolated Madelung deformity

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/16175500

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1086/449313

1 reference

release_ntprbckjvzcdjb2ib7tmsbcsuq

5 July 2017

0 references

OpenCitations bibliographic resource ID

4654971

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

5 July 2017

1 reference