(Q42013533)

15 October 2017

A case of double aneuploidy, 47,XXY,14-,t(13q14q)+, also probably homozygous for the cystic fibrosis gene (English)

1 reference

31 March 2023

main subject

cystic fibrosis

0 references

human chromosomes 13-15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A5046635

31 March 2023

1 reference

31 March 2023

1 reference

R. H. Lindenbaum

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A5046635

31 March 2023

N. L. Blackwell

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A5046635

31 March 2023

D. J. De Sa'

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A5046635

31 March 2023

language of work or name

English

0 references

publication date

1 June 1972

1 reference

PMC publication ID

1469038

full work available at URL

15 October 2017

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/5046635/?tool=EBI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A5046635

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/5046635/pdf/?tool=EBI

31 March 2023

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%3A5046635

https://europepmc.org/articles/PMC1469038

31 March 2023

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A5046635

https://europepmc.org/articles/PMC1469038?pdf=render

31 March 2023

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%3A5046635

https://syndication.highwire.org/content/doi/10.1136/jmg.9.2.232

31 March 2023

1 reference

Journal of Medical Genetics

31 March 2023

published in

1 reference

15 October 2017

9

1 reference

15 October 2017

2

1 reference

15 October 2017

232-235

1 reference

Multiple congenital anomaly caused by an extra autosome

15 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1469038

A sex chromatin survey of newborn children in two London hospitals

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1469038

Incidence of fibrocystic disease in Wessex

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1469038

Autosomal trisomy syndromes: a detailed study of 27 cases of Edwards' syndrome and 27 cases of Patau's syndrome

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1469038

Inhibition of the motility of gill cilia of Dreissensia by plasma of cystic fibrosis patients and their parents

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1469038

Congenital Malformations in Autosomal Trisomy Syndromes

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1469038

The use of quinacrine fluorescence in the identification of B and E group chromosomes involved in structural abnormalities

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1469038

Abnormal siblings in patients with trisomy 13-15 and 17-18.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1469038

Concurrent mongolism and cystic pancreatic fibrosis

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1469038

Double aneuploidy: the frequency of XXY in males with Down's syndrome

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1469038

Cystic fibrosis and Down's syndrome

5 June 2018

1 reference

12 December 2020

[Comparative pathology of trisomies D and E]

1 reference

12 December 2020

The 24 fluorescence patterns of the human metaphase chromosomes - distinguishing characters and variability

1 reference

12 December 2020

The chromosomes in a patient showing both mongolism and the Klinefelter syndrome

1 reference

12 December 2020

Double autosomal trisomy (D trisomy plus mongolism)

1 reference

12 December 2020

A FAMILY SHOWING TRANSMISSION OF A D/D RECIPROCAL TRANSLOCATION AND A CASE OF REGULAR 21-TRISOMIC DOWN'S SYNDROME

1 reference

12 December 2020

ANATOMIC AND HISTOPATHOLOGIC STUDY OF TWO CASES OF D1 (13-15) TRISOMY

1 reference

12 December 2020

Chromosome aberrations and human diseases. XXY Klinefelter's syndrome from 46 chromosomes caused by T-T centromeric fusion

1 reference

12 December 2020

A female with the 48,XXXX karyotype

2

1 reference

An XXXX sex chromosome complement in a female with mild mental retardation

31 March 2023

4

1 reference

Dermatoglyphics of two cases of X tetrasomy

31 March 2023

8

1 reference

American Journal of Human Genetics

31 March 2023

10

22

326

females

1 reference

31 March 2023

Identifiers

0 references

1 reference

PMC publication ID

1469038

15 October 2017

1 reference

PMC publication ID

1469038