(Q33584596)

28 July 2017

Further dicentric X isochromosomes and deletions, and a new structure i(X)(pter to q2102 to pter) (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A490580

chromosomal deletion syndrome

6 July 2022

main subject

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A490580

6 July 2022

1 reference

https://api.crossref.org/works/10.1136/JMG.16.4.278

9 June 2023

author name string

A. Daniel

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A490580

6 July 2022

T. Saville

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A490580

6 July 2022

D. B. Southall

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A490580

6 July 2022

language of work or name

English

0 references

publication date

1 August 1979

1 reference

full work available at URL

28 July 2017

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/490580/?tool=EBI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A490580

http://jmg.bmjjournals.com/cgi/content/abstract/16/4/278

6 July 2022

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A490580

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/490580/pdf/?tool=EBI

6 July 2022

file format

Portable Document Format

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A490580

https://europepmc.org/articles/PMC1012670

6 July 2022

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A490580

https://europepmc.org/articles/PMC1012670?pdf=render

6 July 2022

file format

Portable Document Format

online access status

open access

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A490580

https://syndication.highwire.org/content/doi/10.1136/jmg.16.4.278

6 July 2022

1 reference

https://api.crossref.org/works/10.1136/JMG.16.4.278

Journal of Medical Genetics

9 June 2023

published in

1 reference

28 July 2017

16

1 reference

28 July 2017

278-284

1 reference

28 July 2017

4

1 reference

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

28 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012670

A patient with 45,X-46,XXq--46,XXq-dic karyotype

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012670

Sex-chromosome anomalies: recent developments.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012670

Familial x/x translocation: t(x;x)(p22;q13)

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012670

Apparently isodicentric but functionally monocentric X chromosome in man.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012670

Letter: Isochromosome X associated with paracentric inversion.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012670

An abnormal large human chromosome identified as an end-to-end fusion of two X's by combined results of the new banding techniques and microdensitometry.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012670

Differences in human X isochromosomes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012670

Causes and consequences of Robertsonian exchange

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012670

Dicentric Yp chromosome in a patient with the gonadal dysgenesis and gonadoblastoma

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012670

Dicentric X-isochromosome (Xqi dic) and pericentric inversion of No. 2 inv(2) (p15) q21) in a patient with 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=1012670

Dicentric X isochromosomes in man

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012670

Structure and inheritance of some heterozygous Robertsonian translocation in man

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012670

X-short arm deletion gonadal dysgenesis in two siblings due to unique translocation (Xp-;16p+)

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012670

Center for Barr body condensation. A case of Turner's syndrome with 45,X/46,X,dic(X) (Xqter leads to p22::p22 leads to qter)

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012670

Fusion of two apparently intact human X chromosomes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012670

The X isochromosome-X syndrome [46,X,i(Xq)]. Report of three cases with review of the phenotype

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012670

Cytogenetic studies in seven individuals with an i(Xq) karyotype

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012670

Four new cases of Dicentric Y chromosomes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012670

Trisomy 18 syndrome with an unusual karyotype: possible double isochromosome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012670

X chromosomes attached by their long arm: replication autonomy of the short arm adjacent to the inactive centromere

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012670

Human isodicentric X-chromosomes

21 June 2018

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

Cytological findings of 10 cases with i(Xq) and one with dic(X)(qter leads to cen leads to p22::p11 leads to qter)

1 reference

12 December 2020

Dicentric human X chromosomes

1 reference

12 December 2020

Abnormal Y chromosomes and monosomy 45,X: a concept derived from the study of three patients

1 reference

12 December 2020

Non-fluorescent and non-heterochromatic Y chromosome in 45, X 46,XY mosaicism

1 reference

12 December 2020

Isochromosome for the Short Arm of X with Primary Amenorrhoea and a Pituitary Tumour

1 reference

12 December 2020

A patient with a dicentric Y chromosome

1 reference

12 December 2020

Fusion of the short arms of one X chromosome in a patient with gonadal dysgenesis

1 reference

12 December 2020

[46, XXip karyotype in a woman with normal stature and gonadal dysgenesis without other congenital anomalies]

1 reference

12 December 2020

Structural aberrations of the Y chromosome and the corresponding phenotype. Report of a case with the karotype 45,X-46,X,i(Yp)

1 reference

12 December 2020

Isochromosome for the short arm of X, a human 46, XXpi syndrome

1 reference

12 December 2020

A second example of telomeric fusion 2 X chromosomes

1 reference

12 December 2020

Reappraisal of a 46, X, i(Xp) karyotype as 46, X, del (Xq)

1 reference

12 December 2020

Deletion mapping of the human X chromosome

1 reference

12 December 2020

Isochromosome for the short arm of X: A human mosaic 45,X/46,XXpi

1 reference

12 December 2020

Isochromosome-X in man. I

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.16.4.278

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=490580

6 July 2022

1 reference

28 July 2017

1 reference