(Q34021087)

30 July 2017

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

1 reference

30 July 2017

Katja U Schneider

1

1 reference

30 July 2017

Nitin Sabherwal

2

1 reference

30 July 2017

Karin Jantz

3

1 reference

30 July 2017

Ralph Röth

4

1 reference

30 July 2017

Nadja Muncke

5

1 reference

30 July 2017

Werner F Blum

6

1 reference

30 July 2017

Gordon B Cutler

7

1 reference

30 July 2017

Gudrun Rappold

8

1 reference

30 July 2017

language of work or name

English

0 references

publication date

1 June 2005

1 reference

American Journal of Human Genetics

30 July 2017

1 reference

30 July 2017

77

1 reference

30 July 2017

89-96

1 reference

30 July 2017

1

1 reference

The DNA sequence of the human X chromosome

30 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226197

Therapeutics for Duchenne muscular dystrophy: current approaches and future directions.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226197

Dystrophin and mutations: one gene, several proteins, multiple phenotypes

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226197

Mfold web server for nucleic acid folding and hybridization prediction

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226197

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226197

SHOX point mutations and deletions in Leri-Weill dyschondrosteosis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226197

Allelic and nonallelic heterogeneity in dyschondrosteosis (Leri-Weill syndrome)

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226197

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226197

SHOX point mutations in dyschondrosteosis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226197

Disease-causing mutations in the human genome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226197

Mutations in short stature homeobox containing gene (SHOX) in dyschondrosteosis but not in hypochondroplasia

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226197

SHOX: growth, Léri-Weill and Turner syndromes

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226197

X-linked ichthyosis: an update

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226197

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226197

SHOX mutations in dyschondrosteosis (Leri-Weill syndrome)

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226197

The human gene mutation database

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226197

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226197

FISH-deletion mapping defines a 270-kb short stature critical interval in the pseudoautosomal region PAR1 on human sex chromosomes

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226197

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226197

Molecular studies of deletions at the human steroid sulfatase locus

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226197

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226197

High resolution deletion breakpoint mapping in the DMD gene by whole cosmid hybridization.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226197

Frequent deletions of the human X chromosome distal short arm result from recombination between low copy repetitive elements

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226197

Characterization of a low copy repetitive element S232 involved in the generation of frequent deletions of the distal short arm of the human X chromosome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226197

Physical mapping of 14 new DNA markers isolated from the human distal Xp region

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226197

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226197

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

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226197

Léri-Weill syndrome as part of a contiguous gene syndrome at Xp22.3.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226197

AK1 detects a VNTR locus in the pseudoautosomal region

29 October 2018

1 reference

12 December 2020

Double crossover in the human Xp/Yp pseudoautosomal region and its bearing on interference

1 reference

12 December 2020

Double-strand breaks on YACs during yeast meiosis may reflect meiotic recombination in the human genome

1 reference

12 December 2020

SHOX gene mutations and deletions in dyschondrosteosis or Leri-Weill syndrome

1 reference

12 December 2020

Phenotypic variation and genetic heterogeneity in Léri-Weill syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

Phenotypes Associated with SHOX Deficiency

1 reference

12 December 2020

Deletion of the SHOX gene in patients with short stature of unknown cause

1 reference

12 December 2020

Identifiers

DOI

10.1086/431655

1 reference

30 July 2017

1 reference

30 July 2017

1 reference