Evidence for a Turner syndrome locus or loci at Xp11.2-p22.1. (Q34388232)

1 August 2017

title

Evidence for a Turner syndrome locus or loci at Xp11.2-p22.1. (English)

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ORCID Public Data File 2021

1 August 2017

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author name string

A R Zinn

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1 August 2017

V S Tonk

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1 August 2017

Z Chen

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1 August 2017

W L Flejter

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1 August 2017

H A Gardner

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1 August 2017

R Guerra

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1 August 2017

H Kushner

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1 August 2017

S Schwartz

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1 August 2017

V P Sybert

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1 August 2017

D L Van Dyke

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1 August 2017

J L Ross

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1 August 2017

language of work or name

English

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publication date

1 December 1998

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American Journal of Human Genetics

1 August 2017

published in

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1 August 2017

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1 August 2017

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1 August 2017

page(s)

1757-1766

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KARYOTYPE-PHENOTYPE CORRELATIONS IN GONADAL DYSGENESIS AND THEIR BEARING ON THE PATHOGENESIS OF MALFORMATIONS

1 August 2017

cites work

1 reference

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Gene action in the X-chromosome of the mouse (Mus musculus L.)

6 July 2018

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Functional Coherence of the Human Y Chromosome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377648

Evidence from Turner's syndrome of an imprinted X-linked locus affecting cognitive function.

6 July 2018

1 reference

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Zfx mutation results in small animal size and reduced germ cell number in male and female mice

6 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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377648

Developmental analysis of cardiovascular system of 45,X fetuses with cystic hygroma.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377648

Molecular definition of breakpoints associated with human Xq isochromosomes: implications for mechanisms of formation.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377648

Turner syndrome: the case of the missing sex chromosome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377648

A high resolution deletion map of human chromosome Xp22.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377648

The pseudoautosomal regions of the human sex chromosomes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377648

Down syndrome phenotypes: the consequences of chromosomal imbalance

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377648

The Reference Library System--sharing biological material and experimental data

6 July 2018

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Genetic dissection of complex traits

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377648

Turner syndrome and female sex chromosome aberrations: deduction of the principal factors involved in the development of clinical features

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377648

Standards for children's height at ages 2-9 years allowing for heights of parents

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377648

The sex-determining region of the human Y chromosome encodes a finger protein.

6 July 2018

1 reference

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377648

A cytogenetic and molecular reappraisal of a series of patients with Turner's syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377648

Protocols to establish genotype-phenotype correlations in Down syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377648

The parental origin of the single X chromosome in Turner syndrome: lack of correlation with parental age or clinical phenotype

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377648

Short stature in a girl with a terminal Xp deletion distal to DXYS15: localisation of a growth gene(s) in the pseudoautosomal region

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377648

Karyotype/phenotype correlation in females with short stature.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377648

Chromosomal localisation of a pseudoautosomal growth gene(s)

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377648

Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377648

Partial short arm deletions of the X chromosome and spontaneous pubertal development in girls with short stature

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377648

Physical growth: National Center for Health Statistics percentiles

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377648

Height correlations between parents and mature offspring in normal subjects and in subjects with Turner's and Klinefelter's and other syndromes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377648

Non-random X chromosome inactivation in mammalian cells.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377648

Genetic control of X inactivation and processes leading to X-inactivation skewing.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377648

27 October 2018

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12 December 2020

Deletion of the short arm of the X chromosome: a hereditary form of Turner syndrome

1 reference

12 December 2020

Women heterozygous for deficiency of the (p21 ? pter) region of the X chromosome are fertile

1 reference

12 December 2020

The various phenotypes in Xp deletion. Observations in eleven patients

1 reference

12 December 2020

Clinical and cytogenetic aspects of X-chromosome deletions

1 reference

12 December 2020

Perinatal oocyte loss in XO mice and its implications for the aetiology of gonadal dysgenesis in XO women

1 reference

12 December 2020

Oocyte development in XO foetuses of man and mouse: the possible role of heterologous X-chromosome pairing in germ cell survival

1 reference

12 December 2020

Familial premature ovarian failure due to an interstitial deletion of the long arm of the X chromosome

1 reference

12 December 2020

Significance of cardiovascular malformations in cystic hygroma: a new interpretation of the pathogenesis

1 reference

12 December 2020

Identifiers

DOI

10.1086/302152

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1 August 2017

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1 August 2017

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