(Q33587141)

28 July 2017

title

Partial monosomy and partial trisomy 18 in two offspring of carrier of pericentric inversion of chromosome 18 (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1003448

13 August 2022

main subject

human chromosomes 16-18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1003448

13 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%3A1003448

13 August 2022

trisomy

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1003448

13 August 2022

chromosomal inversion

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1003448

13 August 2022

author name string

Vianna-Morgante AM

1

1 reference

28 July 2017

A. M. Vianna-Morgante

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1003448

13 August 2022

M. J. Nozaki

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1003448

13 August 2022

C. C. Ortega

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1003448

13 August 2022

V. Coates

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1003448

13 August 2022

Y. Yamamura

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1003448

13 August 2022

language of work or name

English

0 references

publication date

1 October 1976

1 reference

full work available at URL

28 July 2017

http://jmg.bmjjournals.com/cgi/content/abstract/13/5/366

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%3A1003448

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/1003448/pdf/?tool=EBI

13 August 2022

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%3A1003448

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/1003448/?tool=EBI

13 August 2022

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1003448

https://europepmc.org/articles/PMC1013442

13 August 2022

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1003448

https://europepmc.org/articles/PMC1013442?pdf=render

13 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%3A1003448

Journal of Medical Genetics

13 August 2022

published in

1 reference

28 July 2017

volume

13

1 reference

28 July 2017

issue

5

1 reference

28 July 2017

page(s)

366-370

1 reference

Inherited pericentric inversion of chromosome no. 4.

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=1013442

Inherited pericentric inversion of a group D (13-15) chromosome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013442

Karyotype with chromosomal abnormality with various inherited defects in the offspring (Recombination aneusomy)

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013442

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013442

A cytogenetic survey of 11,680 newborn infants

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013442

Down's syndrome with an atypical G-G translocation derived from familial pericentric inversion in one chromosome of the G group

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013442

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013442

Inherited pericentric inversion of chromosome 5: a family with history of neonatal death and a case of the "cri du chat" syndrome

21 June 2018

1 reference

12 December 2020

Pericentric inversion of "fluorescent" segment in chromosome no. 3

1 reference

12 December 2020

The 24 fluorescence patterns of the human metaphase chromosomes - distinguishing characters and variability

1 reference

12 December 2020

Pericentric inversions of chromosome 9 in two families

1 reference

12 December 2020

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

1 reference

12 December 2020

Inherited pericentric inversion of chromosome number two: a linkage study

1 reference

12 December 2020

Pericentric inversion of a group C autosome: a study of three families

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.13.5.366

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=1003448

13 August 2022

1 reference

28 July 2017

1 reference