(Q33586720)

28 July 2017

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1219125

2 September 2022

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%3A1219125

2 September 2022

trisomy

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1219125

2 September 2022

1 reference

https://api.crossref.org/works/10.1136/JMG.12.4.418

1 November 2023

author name string

P. Jalbert

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1219125

2 September 2022

H. Jalbert

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1219125

2 September 2022

B. Sele

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1219125

2 September 2022

C. Mouriquand

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1219125

2 September 2022

J. Malka

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1219125

2 September 2022

J. Boucharlat

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1219125

2 September 2022

H. Pison

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1219125

2 September 2022

language of work or name

English

0 references

publication date

1 December 1975

1 reference

full work available at URL

28 July 2017

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/1219125/?tool=EBI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1219125

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/1219125/pdf/?tool=EBI

2 September 2022

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%3A1219125

http://jmg.bmjjournals.com/cgi/content/abstract/12/4/418

2 September 2022

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1219125

https://europepmc.org/articles/PMC1013326

2 September 2022

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1219125

https://europepmc.org/articles/PMC1013326?pdf=render

2 September 2022

file format

Portable Document Format

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1219125

https://jmg.bmj.com/content/jmedgenet/12/4/418.full.pdf

2 September 2022

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%3A1219125

https://syndication.highwire.org/content/doi/10.1136/jmg.12.4.418

1 November 2023

1 reference

https://api.crossref.org/works/10.1136/JMG.12.4.418

Journal of Medical Genetics

1 November 2023

published in

1 reference

28 July 2017

volume

12

1 reference

28 July 2017

issue

4

1 reference

28 July 2017

page(s)

418-423

1 reference

Aneusomie de recombinaison: three further examples

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=1013326

Presumptive direct insertion within chromosome 2 in man

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=1013326

Three families with abnormal, inherited chromosomes: 2q+mat, t(Cp+; 13q-)mat and t(3?-;5q+)pat.

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=1013326

An interstitial translocation: chromosome no. 1p to 4q

21 June 2018

1 reference

12 December 2020

Familial insertional translocation

1 reference

12 December 2020

Trisomy for the distal part of the short arm of the number 3 chromosome in 3 siblings. First example of chromosomal insertion: INS(7;3)(q 31;p 21 p 26)

1 reference

12 December 2020

[Crying cat disease associated with complex chromosome rearrangement in a dizygotic twin]

1 reference

12 December 2020

Duplication/deficiency product of a pericentric inversion in man: A cause of D1 trisomy syndrome

1 reference

12 December 2020

Pericentric inversion, inv(10), in a mother and aneusomy by recombination, inv(10),rec(10), in her son

1 reference

12 December 2020

The use of proteolytic enzymes for the mapping of structural rearrangements in the chromosomes of man

1 reference

12 December 2020

On two familial cases of complex translocations

1 reference

12 December 2020

Chromatid interchange resulting in duplication of the short arm of chromosome number 7 in man

1 reference

12 December 2020

A new technic of analysis of the human karyotype

1 reference

12 December 2020

Value in prenatal diagnosis of new technics for chromosome identification in translocations and a recombination aneusomia

1 reference

12 December 2020

Deletion of the long arm of chromosome 5: karyotype 46, XY-46,XY, 5 q

1 reference

12 December 2020

5-21-22 translocation and the crying cat syndrome

1 reference

12 December 2020

Aneusomie de recombinaison: rearrangement between paternal chromosomes 4 and 18 yielding offspring with features of the 18q- syndrome

1 reference

12 December 2020

Identifiers

0 references

1 reference

28 July 2017

1 reference