(Q33683014)

28 July 2017

title

Partial disomy of Xp and the presence of SRY in a phenotypic female (English)

1 reference

28 July 2017

Bajalica S

1

1 reference

28 July 2017

Blennow E

2

1 reference

28 July 2017

Tşezou A

3

1 reference

28 July 2017

Galla-Voumvouraki A

4

1 reference

28 July 2017

Alevizaki M

5

1 reference

28 July 2017

Sinaniotis C

6

1 reference

28 July 2017

Kitsiou-Tzeli S

7

1 reference

28 July 2017

language of work or name

English

0 references

publication date

1 December 1995

1 reference

Journal of Medical Genetics

28 July 2017

published in

1 reference

28 July 2017

volume

32

1 reference

28 July 2017

issue

12

1 reference

28 July 2017

page(s)

987-990

1 reference

Duplication of the short arm of the X chromosome in mother and daughter

28 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051785

Libraries for each human chromosome, constructed from sorter-enriched chromosomes by using linker-adaptor PCR.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051785

Assignment of an autosomal sex reversal locus (SRA1) and campomelic dysplasia (CMPD1) to 17q24.3-q25.1

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051785

Deletion 9p and sex reversal

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051785

Complete and partial XY sex reversal associated with terminal deletion of 10q: report of 2 cases and literature review

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051785

Small marker X chromosomes lack the X inactivation center: implications for karyotype/phenotype correlations

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051785

Molecular basis of mammalian sexual determination: activation of Müllerian inhibiting substance gene expression by SRY.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051785

A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051785

Identification, characterisation and clinical applications of cosmids from the telomeric and centromeric regions of the long arm of chromosome 22.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051785

Female phenotype and multiple abnormalities in sibs with a Y chromosome and partial X chromosome duplication: H--Y antigen and Xg blood group findings

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051785

Inherited partial X chromosome duplication in a mentally retarded male

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051785

Male development of chromosomally female mice transgenic for Sry.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051785

Partial duplication of Xp: a case report and review of previously reported cases

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051785

X-linked mental retardation and characteristic physical features in two brothers with duplication Xp22-Xpter.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051785

Sex reversal in a child with a 46,X,Yp+ karyotype: support for the existence of a gene(s), located in distal Xp, involved in testis formation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051785

Mutations in the conserved domain of SRY are uncommon in XY gonadal dysgenesis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051785

Complete characterization of a large marker chromosome by reverse and forward chromosome painting

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051785

Probable inverted tandem duplication of Xp in a 46,Xp+Y boy

21 June 2018

1 reference

12 December 2020

SRVX, a sex reversing locus in Xp21.2-->p22.11

1 reference

12 December 2020

A deletion map of the human Yq11 region: Implications for the evolution of the Y chromosome and tentative mapping of a locus involved in spermatogenesis

1 reference

12 December 2020

Duplication of an Xp segment that includes the ZFX locus causes sex inversion in man

1 reference

12 December 2020

A chromosomal survey of an institution for the mentally retarded. Study of 476 karyotypes with banding techniques and clinical assessment of patients with chromosome anomalies

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.32.12.987

1 reference

28 July 2017

1 reference

28 July 2017

1 reference