(Q33669201)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7334508%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

title

Partial proximal trisomy of the long arm of chromosome 5 (q13 leads to q22) resulting from maternal insertion der ins (10;5) (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7334508%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7334508

10 May 2024

author name string

S. Gilgenkrantz

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7334508

10 May 2024

P. Dulucq

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7334508

10 May 2024

J. L. Bresson

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7334508

10 May 2024

A. Gouget

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7334508

10 May 2024

C. Pernot

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7334508

10 May 2024

M. J. Gregoire

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7334508

10 May 2024

language of work or name

English

0 references

publication date

1 December 1981

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7334508%20AND%20SRC:MED&resulttype=core&format=json

full work available at URL

16 October 2019

https://jmg.bmj.com/content/jmedgenet/18/6/465.full.pdf

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%3A7334508

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/7334508/?tool=EBI

10 May 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7334508

http://jmg.bmjjournals.com/cgi/content/abstract/18/6/465

10 May 2024

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%3A7334508

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/7334508/pdf/?tool=EBI

10 May 2024

file format

Portable Document Format

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7334508

https://europepmc.org/articles/PMC1048797

10 May 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7334508

https://europepmc.org/articles/PMC1048797?pdf=render

10 May 2024

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%3A7334508

https://syndication.highwire.org/content/doi/10.1136/jmg.18.6.465

10 May 2024

1 reference

https://api.crossref.org/works/10.1136/JMG.18.6.465

Journal of Medical Genetics

10 May 2024

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7334508%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

volume

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7334508%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7334508%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

page(s)

465-469

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7334508%20AND%20SRC:MED&resulttype=core&format=json

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

16 October 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048797

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048797

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048797

Inherited chromosomal translocation in two families (t(4q-;13q+) and t(5q-; 13q+)).

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048797

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048797

Partial duplication of the long arm of chromosome 5: A case due to balanced paternal translocation and review of the literature

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048797

Partial trisomy for the distal long arm of chromosome 5 (region q34 leads to qter). A new clinically recognizable syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048797

Partial duplication 5q syndrome: phenotypic similarity in two sisters with identical karyotype (partial duplication 5q33 leads to 5qter and partial deficiency 8p23 leads to pter)

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048797

Tandem duplication (5q13→22) in a mentally deficient girl

21 June 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/7334508

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Partial trisomy 5q: three different phenotypes depending on different duplication segments

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/7334508

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMG.18.6.465

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7334508%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7334508%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

1 reference