Increased number of sex chromosomes affects height in a nonlinear fashion: a study of 305 patients with sex chromosome aneuploidy. (Q55115698)

21 June 2018

title

Increased number of sex chromosomes affects height in a nonlinear fashion: a study of 305 patients with sex chromosome aneuploidy. (English)

1 reference

21 June 2018

author

Claus H. Gravholt

6

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21 June 2018

Niels Jørgensen

9

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21 June 2018

Anders Juul

14

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21 June 2018

Ewa Rajpert-De Meyts

10

object named as

Ewa Rajpert-De Meyts

1 reference

21 June 2018

7

Anders Bojesen

1 reference

21 June 2018

author name string

Anne Marie Ottesen

1

1 reference

21 June 2018

Lise Aksglaede

2

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21 June 2018

Inger Garn

3

1 reference

21 June 2018

Nicole Tartaglia

4

1 reference

21 June 2018

Flora Tassone

5

1 reference

21 June 2018

Kaspar Sørensen

8

1 reference

21 June 2018

Tommy Gerdes

11

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21 June 2018

Anne-Marie Lind

12

1 reference

21 June 2018

Susanne Kjaergaard

13

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21 June 2018

language of work or name

English

0 references

publication date

1 May 2010

1 reference

21 June 2018

American Journal of Medical Genetics

published in

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21 June 2018

volume

152A

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21 June 2018

issue

5

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21 June 2018

page(s)

1206-1212

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21 June 2018

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

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1 reference

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A new look at XXYY syndrome: medical and psychological features

22 June 2018

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Abnormal sex chromosome constitution and longitudinal growth: serum levels of insulin-like growth factor (IGF)-I, IGF binding protein-3, luteinizing hormone, and testosterone in 109 males with 47,XXY, 47,XYY, or sex-determining region of the Y chrom

22 June 2018

1 reference

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BNP is a transcriptional target of the short stature homeobox gene SHOX.

22 June 2018

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Clinical, endocrinological, and epigenetic features of the 46,XX male syndrome, compared with 47,XXY Klinefelter patients

22 June 2018

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Klinefelter syndrome and other sex chromosomal aneuploidies

22 June 2018

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The metabolic syndrome is frequent in Klinefelter's syndrome and is associated with abdominal obesity and hypogonadism.

22 June 2018

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High incidence of SHOX anomalies in individuals with short stature.

22 June 2018

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

22 June 2018

1 reference

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

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5454803

Tall stature, insulin resistance, and disturbed behavior in a girl with the triple X syndrome harboring three SHOX genes: offspring of a father with mosaic Klinefelter syndrome but with two maternal X chromosomes

22 June 2018

1 reference

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Molecular and evolutionary analysis of the growth-controlling region on the human Y chromosome

22 June 2018

1 reference

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SHOX haploinsufficiency and overdosage: impact of gonadal function status.

22 June 2018

1 reference

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Long-term outcome in children of sex chromosome abnormalities

22 June 2018

1 reference

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49,XXXXY: a distinct phenotype. Three new cases and review

22 June 2018

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

22 June 2018

1 reference

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SHOX mutations in dyschondrosteosis (Leri-Weill syndrome)

22 June 2018

1 reference

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Skeletal overgrowth in transgenic mice that overexpress brain natriuretic peptide

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5454803

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

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5454803

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

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5454803

The pseudoautosomal regions of the human sex chromosomes

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5454803

Sex chromosome tetrasomy and pentasomy

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5454803

A common deletion in the uridine diphosphate glucuronyltransferase (UGT) 2B17 gene is a strong determinant of androgen excretion in healthy pubertal boys

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5454803

A simple screening method for detection of Klinefelter syndrome and other X-chromosome aneuploidies based on copy number of the androgen receptor gene.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5454803

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

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5454803

[Heights and weights of Danish children]

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5454803

Growth and body proportions in 54 boys and men with Klinefelter's syndrome

13 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20425825

12 December 2020

inferred from PubMed ID database lookup

Microdeletion in the SHOX 3' region associated with skeletal phenotypes of Langer mesomelic dysplasia in a 45,X/46,X,r(X) infant and Leri-Weill dyschondrosteosis in her 46,XX mother: implication for the SHOX enhancer

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20425825

12 December 2020

inferred from PubMed ID database lookup

Clinical and molecular characterization of duplications encompassing the humanSHOXgene reveal a variable effect on stature

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20425825

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1002/AJMG.A.33334

1 reference

21 June 2018

release_tpt4einvrrc7hkfaeyltvqxn3y

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/tpt4einvrrc7hkfaeyltvqxn3y

24 November 2022

mapped directly with Wikidata item

PMCID

5454803

1 reference

21 June 2018

PubMed ID

20425825

1 reference

21 June 2018