(Q41561875)

3 October 2017

title

Partial trisomy 18q12, due to intrachromosomal duplication, is not associated with typical 18 trisomy phenotype (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A437778

human chromosomes 6-12 and X

1 July 2022

main subject

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A437778

1 July 2022

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%3A437778

1 July 2022

trisomy

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A437778

1 July 2022

1 reference

10 May 2023

author name string

J. P. Fryns

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A437778

1 July 2022

L. Vinken

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A437778

1 July 2022

J. Marien

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A437778

1 July 2022

H. Van den Berghe

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A437778

1 July 2022

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=437778

1 July 2022

publication date

1 February 1979

1 reference

3 October 2017

15 February 1979

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=437778

full work available at URL

1 July 2022

http://link.springer.com/content/pdf/10.1007/BF00273319.pdf

file format

Portable Document Format

1 reference

http://link.springer.com/article/10.1007/BF00273319/fulltext.html

10 May 2023

1 reference

http://link.springer.com/content/pdf/10.1007/BF00273319

10 May 2023

1 reference

10 May 2023

1 reference

3 October 2017

volume

46

1 reference

3 October 2017

issue

3

1 reference

3 October 2017

page(s)

341-344

1 reference

https://scigraph.springernature.com/pub.10.1007/bf00273319

3 October 2017

exact match

0 references

cites work

Pseudohermaphroditism with clinical features of trisomy 19 in an infant trisomic for parts of chromosomes 16 and 18: 47,XY,der(18),t(16;18)(p12;q11)mat

1 reference

12 December 2020

Inclusion of satellites in an 18/21 translocation chromosome shown by ammonical-silver staining (sat-banding) in case of partial trisomy 18

1 reference

12 December 2020

Clinical experience with trisomies 18 and 13

1 reference

12 December 2020

Partial 18 trisomy (with 47 chromosomes) resulting from a familial maternal translocation

1 reference

12 December 2020

Partial trisomy 18q in a newborn with typical 18 trisomy phenotype

1 reference

12 December 2020

Trisomy 18qter and trisomy mapping of chromosome 18

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00273319

1 reference

Dimensions Publication ID

3 October 2017

1028453059

0 references

1 reference