(Q33587698)

28 July 2017

'Complete 5p' trisomy: 1 case and 19 translocation carriers in 6 generations (English)

1 reference

28 July 2017

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%3A926139

7 August 2022

trisomy

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A926139

7 August 2022

author name string

F. S. Brimblecombe

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A926139

7 August 2022

F. J. Lewis

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A926139

7 August 2022

M. Vowles

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A926139

7 August 2022

language of work or name

English

0 references

publication date

1 August 1977

1 reference

full work available at URL

28 July 2017

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/926139/?tool=EBI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A926139

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/926139/pdf/?tool=EBI

7 August 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%3A926139

http://jmg.bmjjournals.com/cgi/content/abstract/14/4/271

7 August 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%3A926139

https://europepmc.org/articles/PMC1013582

7 August 2022

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A926139

https://europepmc.org/articles/PMC1013582?pdf=render

7 August 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%3A926139

Journal of Medical Genetics

7 August 2022

published in

1 reference

28 July 2017

14

1 reference

28 July 2017

271-274

1 reference

28 July 2017

4

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013582

Multiple congenital defects associated with trisomy for the short arm of chromosome 4.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013582

A family with an inherited translocation involving the no. 4/no. 21 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=1013582

Partial trisomy for the short arm of chromosome 4 with translocation 4p-,18q+ in the father

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013582

A 4-5/21-22 CHROMOSOMAL TRANSLOCATION ASSOCIATED WITH MULTIPLE CONGENITAL ANOMALIES

31 October 2018

1 reference

12 December 2020

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"

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

Identifiers

DOI

10.1136/JMG.14.4.271

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=926139

7 August 2022

1 reference

28 July 2017

1 reference