SHOX haploinsufficiency and overdosage: impact of gonadal function status. (Q34116408)

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3 November 2019

review article

1 reference

title

SHOX haploinsufficiency and overdosage: impact of gonadal function status (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11134233%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

0 references

1

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3 November 2019

author name string

N Matsuo

series ordinal

2

1 reference

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3 November 2019

G Nishimura

series ordinal

3

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3 November 2019

language of work or name

English

0 references

publication date

1 January 2001

1 reference

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Journal of Medical Genetics

3 November 2019

published in

1 reference

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3 November 2019

volume

38

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3 November 2019

issue

1

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3 November 2019

page(s)

1-6

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Short stature homeobox-containing gene duplication on the der(X) chromosome in a female with 45,X/46,X, der(X), gonadal dysgenesis, and tall stature

3 November 2019

cites work

1 reference

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

5 July 2018

1 reference

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A decade of growth hormone treatment in girls with Turner syndrome in the UK. UK KIGS Executive Group

5 July 2018

1 reference

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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=1734713

SHOX mutations in dyschondrosteosis (Leri-Weill syndrome)

5 July 2018

1 reference

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Pediatric endocrinology update: an overview. The essential roles of estrogens in pubertal growth, epiphyseal fusion and bone turnover: lessons from mutations in the genes for aromatase and the estrogen receptor

5 July 2018

1 reference

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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=1734713

Sex chromosome aberrations and stature: deduction of the principal factors involved in the determination of adult height

5 July 2018

1 reference

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The pseudoautosomal regions of the human sex chromosomes

5 July 2018

1 reference

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Sex-influenced expression of Madelung's deformity in a family of dyschondrosteosis

5 July 2018

1 reference

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Isodicentric X chromosome in a moderately tall patient with gonadal dysgenesis: lack of effect of functional centromere on inactivation pattern.

5 July 2018

1 reference

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Clinical variation in dyschondrosteosis. A report on 13 individuals in 8 families.

5 July 2018

1 reference

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Localisation of male determining factors in man: a thorough review of structural anomalies of the Y 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=1734713

Growth in children with 45,XO Turner's syndrome

5 July 2018

1 reference

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Apparently isodicentric but functionally monocentric X chromosome in man.

5 July 2018

1 reference

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An interspersed repeated sequence specific for human subtelomeric regions

5 July 2018

1 reference

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Inherited chondrodysplasia punctata due to a deletion of the terminal short arm of an X chromosome.

5 July 2018

1 reference

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Deletion of the pseudoautosomal region in a male with a unique Y;13 translocation and short stature

28 October 2018

1 reference

12 December 2020

Bone maturation in girls with Turner's syndrome

1 reference

12 December 2020

Mapping of the distal boundary of the X-inactivation center in a rearranged X chromosome from a female expressing XIST

1 reference

12 December 2020

Ovarian dysgenesis due to an idic(X)(q2803)

1 reference

12 December 2020

Replication patterns of three isodicentric X chromosomes and an X isochromosome in human lymphocytes

1 reference

12 December 2020

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

1 reference

12 December 2020

Unconjugated Estrone, Estradiol and FSH and LH in Prepubertal and Pubertal Males and Females

1 reference

12 December 2020

Roentgenographic abnormalities in phenotypic females with gonadal dysgenesis. A comparison of chromatin positive patients and chromatin negative patients

1 reference

12 December 2020

Madelung's deformity. A clinical and cytogenetic study

1 reference

12 December 2020

Phenotypic variation and genetic heterogeneity in Léri-Weill syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

DYSCHONDROSTEOSIS, A HEREDITABLE BONE DYSPLASIA WITH CHARACTERISTIC ROENTGENOGRAPHIC FEATURES

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.38.1.1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11134233%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11134233%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

PubMed publication ID

11134233

1 reference