(Q33588040)

28 July 2017

title

Partial trisomy for short and long arm of chromosome no. 5: Two cases of two possible syndromes (English)

1 reference

28 July 2017

main subject

human chromosomes 4-5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A641949

17 July 2022

trisomy

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A641949

17 July 2022

1 reference

https://api.crossref.org/works/10.1136/JMG.15.2.143

30 August 2023

author name string

B. Zabel

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A641949

17 July 2022

W. Baumann

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A641949

17 July 2022

J. Gehler

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A641949

17 July 2022

G. Conrad

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A641949

17 July 2022

language of work or name

English

0 references

publication date

1 April 1978

1 reference

full work available at URL

28 July 2017

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/641949/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%3A641949

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/641949/?tool=EBI

17 July 2022

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A641949

http://jmg.bmjjournals.com/cgi/content/abstract/15/2/143

17 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%3A641949

https://europepmc.org/articles/PMC1013664

17 July 2022

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A641949

https://europepmc.org/articles/PMC1013664?pdf=render

17 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%3A641949

https://syndication.highwire.org/content/doi/10.1136/jmg.15.2.143

17 July 2022

1 reference

https://api.crossref.org/works/10.1136/JMG.15.2.143

Journal of Medical Genetics

30 August 2023

published in

1 reference

28 July 2017

volume

15

1 reference

28 July 2017

issue

2

1 reference

28 July 2017

page(s)

143-147

1 reference

Translocation heterozygosis: a cause of five cases of the cri du chat syndrome and two cases with a duplication of chromosome number five in three families

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=1013664

Karyotype with chromosomal abnormality with various inherited defects in the offspring (Recombination aneusomy)

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013664

Assignment by Deletion of Human Red Cell Acid Phosphatase Gene Locus to the Short Arm of Chromosome 2

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013664

Partial trisomy for the long arms of chromosome no. 5 due to insertion and further 'aneusomie de recombinaison'

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013664

A partial trisomy 5p syndrome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013664

Familial translocation, t(2;5) (p23; g31)

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013664

FAMILIAL SEGREGATION OF A 5-13 TRANSLOCATION DETERMINING PARTIAL MONOSOMY AND A TRISOMY OF THE SHORT ARM OF THE 5 CHROMOSOME: "CAT CRY" DISEASE AND ITS "RECEPROCAL"

28 July 2018

1 reference

12 December 2020

Banding in human chromosomes treated with trypsin

1 reference

12 December 2020

Segregation of a balanced translocation t(5p-;Gp+)

1 reference

12 December 2020

Genetic and clinical study of a family of 7 children in which 3 persons have "crying cat syndrome"

1 reference

12 December 2020

Partial trisomy 5 with a carrier parent t(5p‐;9p+)

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.15.2.143

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=641949

17 July 2022

1 reference

28 July 2017

1 reference