(Q33585673)

28 July 2017

title

Trisomy 9 mosaicism with multiple congenital anomalies (English)

1 reference

https://api.crossref.org/works/10.1136/JMG.10.2.180

28 July 2017

Trisomy 9 Mosaicism with Multiple Congenital Anomalies (English)

1 reference

human chromosomes 6-12 and X

23 February 2023

main subject

congenital disorder

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A4714587

23 February 2023

trisomy

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A4714587

23 February 2023

1 reference

https://api.crossref.org/works/10.1136/JMG.10.2.180

23 February 2023

author name string

R. H. Haslam

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A4714587

23 February 2023

S. P. Broske

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A4714587

23 February 2023

C. M. Moore

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A4714587

23 February 2023

G. H. Thomas

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A4714587

23 February 2023

C. A. Neill

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A4714587

23 February 2023

language of work or name

English

0 references

publication date

1 June 1973

1 reference

full work available at URL

28 July 2017

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/4714587/pdf/?tool=EBI

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%3A4714587

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/4714587/?tool=EBI

23 February 2023

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A4714587

https://europepmc.org/articles/PMC1013013

23 February 2023

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A4714587

https://europepmc.org/articles/PMC1013013?pdf=render

23 February 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%3A4714587

https://syndication.highwire.org/content/doi/10.1136/jmg.10.2.180

23 February 2023

1 reference

https://api.crossref.org/works/10.1136/JMG.10.2.180

Journal of Medical Genetics

23 February 2023

published in

1 reference

28 July 2017

volume

10

1 reference

28 July 2017

issue

2

1 reference

28 July 2017

page(s)

180-184

1 reference

Chromosome preparations of leukocytes cultured from human peripheral blood

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=1013013

Absent patellae, mild mental retardation, skeletal and genitourinary anomalies, and C group autosomal mosaicism.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013013

Two cases of trisomy C6-12 mosaicism with multiple congenital malformations.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013013

Four patients with trisomy 8 identified by the fluorescence and Giemsa banding techniques

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013013

Study by fluorescence of a trisomy C mosaic, probably 8: 46,XY-47,XY,?8+

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013013

[Chromosome mosaicism C-trisomy/normal]

31 October 2018

1 reference

12 December 2020

A further case of presumed 6-12 trisomy

1 reference

12 December 2020

Mosaic Trisomy of an Autosome in the 6–12 Group in a Patient With Multiple Congenital Anomalies

1 reference

12 December 2020

Trisomy C in an infant with polycystic kidneys and other malformations

1 reference

12 December 2020

Identification of human chromosomes by DNA-binding fluorescent agents

1 reference

12 December 2020

Apparent C trisomy in bone marrow cells. Report of two cases

1 reference

12 December 2020

Cytogenetic investigation of spontaneous abortions

1 reference

12 December 2020

Cytogenetic studies in primary amenorrhoea

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.10.2.180

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=4714587

23 February 2023

1 reference

28 July 2017

1 reference