(Q33587262)

28 July 2017

title

Severe mental retardation in a boy with partial trisomy 10q and partial monosomy 2q (English)

1 reference

Severe mental retardation

28 July 2017

main subject

1 reference

inferred from title

human chromosomes 1-3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1018309

human chromosomes 6-12 and X

14 August 2022

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1018309

14 August 2022

chromosome abnormality

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1018309

14 August 2022

trisomy

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1018309

chromosomal deletion syndrome

14 August 2022

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1018309

14 August 2022

author name string

J. A. Sills

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1018309

14 August 2022

K. E. Buckton

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1018309

14 August 2022

J. A. Raeburn

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1018309

14 August 2022

language of work or name

English

0 references

publication date

1 December 1976

1 reference

full work available at URL

28 July 2017

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/1018309/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%3A1018309

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/1018309/?tool=EBI

14 August 2022

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1018309

http://jmg.bmjjournals.com/cgi/content/abstract/13/6/507

14 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%3A1018309

https://europepmc.org/articles/PMC1013478

14 August 2022

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1018309

https://europepmc.org/articles/PMC1013478?pdf=render

14 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%3A1018309

Journal of Medical Genetics

14 August 2022

published in

1 reference

28 July 2017

volume

13

1 reference

28 July 2017

issue

6

1 reference

28 July 2017

page(s)

507-510

1 reference

Familial transmission of a chromosomal translocation t(2q+;Cp-)

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=1013478

Quinacrine mustard fluorescence of human chromosomes: characterization of unusual translocations

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013478

[Partial trisomy 10q dueto familial translocation t(10q-; 22p-plus)]

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013478

Segregation of ACP1and MNSs in families with structural rearrangements involving chromosome 2

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013478

Partial trisomy 10q occurring in a family with a reciprocal translocation t(10;18)(q25;q23)

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013478

Inherited translocations in two families (t(14q+;10q-) and t(13q-;21q+)).

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013478

New technique for distinguishing between human chromosomes

31 October 2018

1 reference

12 December 2020

[Partial trisomy 10 due to hereditary translocation t(1;10)(q44;q22)]

1 reference

12 December 2020

Familial balanced translocation t(2; 13) (q32; q33) and partial trisomy 2q

1 reference

12 December 2020

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

1 reference

12 December 2020

A familial 10/13 translocation: partial trisomy C in an infant associated with familial 10/13 translocation

1 reference

12 December 2020

A new syndrome resulting from partial trisomy for the distal third of the long arm of chromosome 10

1 reference

12 December 2020

Familial translocation 2-D

1 reference

12 December 2020

Duplication deficiency syndrome in familial translocation (2q-; 5p+)

1 reference

12 December 2020

Leukocytes Cultured from Small Inocula of Whole Blood and the Preparation of Metaphase Chromosomes by Treatment with Hypotonic KCL

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.13.6.507

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=1018309

14 August 2022

1 reference

28 July 2017

1 reference