(Q40358023)

19 September 2017

Partial trisomy 12q: report of a case and review (English)

1 reference

19 September 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7334509

10 May 2024

author name string

S. H. Roberts

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7334509

10 May 2024

T. Mattina

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7334509

10 May 2024

K. M. Laurence

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7334509

10 May 2024

G. Sorge

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7334509

10 May 2024

L. Pavone

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7334509

10 May 2024

language of work or name

English

0 references

publication date

1 December 1981

1 reference

PMC publication ID

1048798

full work available at URL

19 September 2017

https://jmg.bmj.com/content/jmedgenet/18/6/470.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%3A7334509

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/7334509/?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%3A7334509

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/7334509/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%3A7334509

http://jmg.bmjjournals.com/cgi/content/abstract/18/6/470

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%3A7334509

https://europepmc.org/articles/PMC1048798

10 May 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7334509

https://europepmc.org/articles/PMC1048798?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%3A7334509

https://syndication.highwire.org/content/doi/10.1136/jmg.18.6.470

10 May 2024

1 reference

https://api.crossref.org/works/10.1136/JMG.18.6.470

Journal of Medical Genetics

10 May 2024

published in

1 reference

19 September 2017

18

1 reference

19 September 2017

6

1 reference

19 September 2017

470-473

1 reference

Chromosome preparations of leukocytes cultured from human peripheral blood

19 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048798

Anatomic and chromosomal anomalies in 639 spontaneous abortuses

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048798

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048798

Partial trisomy 12 in a mentally retarded boy and translocation (12;21) in his mother

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048798

Frequency of deletion of short arm satellites in acrocentric chromosomes

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048798

Chromosome anomalies of infants dying during the perinatal period and premature newborn

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048798

Trisomy 12p syndrome: de novo occurrence of mosaic trisomy 12p in a mentally retarded boy

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048798

Chromosome constitution of 500 infants dying during the perinatal period. With an appendix concerning other genetic disorders among these infants

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048798

Precise identification of various chromosomal abnormalities.

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048798

Balanced translocations involving chromosome 12: report of a case and possible evidence for position effect

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048798

Identification by Q and G bands of chromosome anomalies in spontaneous abortion

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048798

A rapid banding technique for human chromosomes

17 June 2018

1 reference

12 December 2020

Partial trisomy 11 in a child resulting from a complex maternal rearrangement of chromosomes 11, 12 and 13

1 reference

12 December 2020

Trisomy 12 mosaicism in an infertile man

1 reference

12 December 2020

Partial trisomy 12q associated with a familial translocation

1 reference

12 December 2020

Duplication 12q mosaicism in two unrelated patients with a similar syndrome

1 reference

12 December 2020

Partial distal 12q trisomy

1 reference

12 December 2020

Identifiers

0 references

1 reference

PMC publication ID

1048798

19 September 2017

1 reference

PMC publication ID

1048798