(Q34634475)

English

Pericentric enversion of chromosome no. 13 in a large family leading to duplication deficiency causing congenital malformations in three individuals

scientific article published on December 1, 1972

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scholarly article

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:4646548%20AND%20SRC:MED&resulttype=core&format=json

1 October 2019

Pericentric enversion of chromosome no. 13 in a large family leading to duplication deficiency causing congenital malformations in three individuals (English)

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:4646548%20AND%20SRC:MED&resulttype=core&format=json

1 October 2019

congenital disorder

0 references

human chromosomes 13-15

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A4646548

16 February 2023

chromosome abnormality

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A4646548

16 February 2023

1 reference

10.1136/JMG.9.4.413

https://api.crossref.org/works/10.1136/JMG.9.4.413

16 February 2023

author name string

H. Hauksdóttir

1

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A4646548

16 February 2023

S. Halldórsson

2

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A4646548

16 February 2023

O. Jensson

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A4646548

16 February 2023

M. Mikkelsen

4

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A4646548

16 February 2023

A. McDermott

5

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A4646548

16 February 2023

publication date

1 December 1972

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:4646548%20AND%20SRC:MED&resulttype=core&format=json

1 October 2019

language of work or name

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full work available online at

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/4646548/pdf/?tool=EBI

online access status

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A4646548

16 February 2023

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/4646548/?tool=EBI

online access status

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A4646548

16 February 2023

https://europepmc.org/articles/PMC1469059

online access status

content deliverer

Europe PubMed Central

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A4646548

16 February 2023

https://europepmc.org/articles/PMC1469059?pdf=render

online access status

content deliverer

Europe PubMed Central

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A4646548

16 February 2023

https://syndication.highwire.org/content/doi/10.1136/jmg.9.4.413

1 reference

10.1136/JMG.9.4.413

https://api.crossref.org/works/10.1136/JMG.9.4.413

16 February 2023

Journal of Medical Genetics

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:4646548%20AND%20SRC:MED&resulttype=core&format=json

1 October 2019

9

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:4646548%20AND%20SRC:MED&resulttype=core&format=json

1 October 2019

4

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:4646548%20AND%20SRC:MED&resulttype=core&format=json

1 October 2019

413-421

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:4646548%20AND%20SRC:MED&resulttype=core&format=json

1 October 2019

CEREBRAL GIGANTISM IN CHILDHOOD. A SYNDROME OF EXCESSIVELY RAPID GROWTH AND ACROMEGALIC FEATURES AND A NONPROGRESSIVE NEUROLOGIC DISORDER.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1469059

7 July 2018

Identification of G group anomalies in Down's syndrome by quinacrine dihydrochloride fluorescence staining

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1469059

7 July 2018

Pericentric inversion of a number 15 chromosome in nine members of one family

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1469059

7 July 2018

Human meiosis: the occurrence of interlocked bivalents in a normal male

1 reference

https://pubmed.ncbi.nlm.nih.gov/4646548

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Pericentric inversion in a group D chromosome (13?15) associated with amenorrhea and gonadal dysgenesis

1 reference

https://pubmed.ncbi.nlm.nih.gov/4646548

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Patau's syndrome with D1 duplication‐deficiency derived from a maternal D group pericentric inversion

1 reference

https://pubmed.ncbi.nlm.nih.gov/4646548

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The D1 trisomy syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/4646548

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

AN ABERRANT AUTOSOME (13-15) IN A HUMAN FEMALE AND HER FATHER, BOTH APPARENTLY NORMAL

1 reference

https://pubmed.ncbi.nlm.nih.gov/4646548

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/JMG.9.4.413

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:4646548%20AND%20SRC:MED&resulttype=core&format=json

1 October 2019

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:4646548%20AND%20SRC:MED&resulttype=core&format=json

1 October 2019

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:4646548%20AND%20SRC:MED&resulttype=core&format=json

1 October 2019

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