(Q33584716)

https://api.crossref.org/works/10.1136/JMG.16.3.215

28 July 2017

title

Two balanced translocations in three generations of a pedigree: t(7;10) (q11;q22) and t(14;21) (14qter to cen to 21qter)1 (English)

1 reference

human chromosomes 6-12 and X

14 May 2022

main subject

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A157395

14 May 2022

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%3A157395

chromosomal translocation

14 May 2022

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A157395

14 May 2022

1 reference

https://api.crossref.org/works/10.1136/JMG.16.3.215

14 May 2022

author name string

H. N. Bass

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A157395

14 May 2022

R. S. Sparkes

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A157395

14 May 2022

language of work or name

English

0 references

publication date

1 June 1979

1 reference

full work available at URL

28 July 2017

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/157395/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%3A157395

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/157395/?tool=EBI

14 May 2022

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A157395

http://jmg.bmjjournals.com/cgi/content/abstract/16/3/215

14 May 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%3A157395

https://europepmc.org/articles/PMC1012694

14 May 2022

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A157395

https://europepmc.org/articles/PMC1012694?pdf=render

14 May 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%3A157395

https://syndication.highwire.org/content/doi/10.1136/jmg.16.3.215

14 May 2022

1 reference

https://api.crossref.org/works/10.1136/JMG.16.3.215

Journal of Medical Genetics

14 May 2022

published in

1 reference

28 July 2017

volume

16

1 reference

28 July 2017

issue

3

1 reference

28 July 2017

page(s)

215-218

1 reference

Complex translocation t(9;21)(9;22)(q12p13)(q12q11) in the family of a child with 9p trisomy syndrome

28 July 2017

cites work

1 reference

PubMed Central

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012694

Two reciprocal translocations associated with microcephaly and retardation

21 June 2018

1 reference

PubMed Central

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012694

Balanced t(8;9)(q12;q33)pat carrier with phenotypic abnormalities attributable to a de novo terminal deletion of the long arm of chromosome 7

21 June 2018

1 reference

PubMed Central

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012694

2 familial translocations occurring together in each of 2 sisters, one balanced, the other partial trisomic 10q

21 June 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/157395

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

46, XX, 1q-, 2q-, Dq+, 16q+ karyotype in a polymalformed child

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/157395

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Double translocation t(7;12),t(2;6) heterozygosity in one family. A contribution to the trisomy 12p syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/157395

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMG.16.3.215

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=157395

17 December 2022

1 reference

28 July 2017

1 reference