(Q33584670)

28 July 2017

title

De novo interstitial deletion del(1)(p21p32) (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A490590

chromosomal deletion syndrome

6 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%3A490590

6 July 2022

1 reference

https://api.crossref.org/works/10.1136/JMG.16.4.323

9 June 2023

author name string

M. Bene

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A490590

6 July 2022

A. Duca-Marinescu

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A490590

6 July 2022

D. Ioan

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A490590

6 July 2022

C. Maximilian

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A490590

6 July 2022

language of work or name

English

0 references

publication date

1 August 1979

1 reference

full work available at URL

28 July 2017

http://jmg.bmjjournals.com/cgi/content/abstract/16/4/323

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%3A490590

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/490590/?tool=EBI

6 July 2022

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A490590

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/490590/pdf/?tool=EBI

6 July 2022

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A490590

https://europepmc.org/articles/PMC1012682

6 July 2022

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A490590

https://europepmc.org/articles/PMC1012682?pdf=render

6 July 2022

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A490590

https://syndication.highwire.org/content/doi/10.1136/jmg.16.4.323

6 July 2022

1 reference

https://api.crossref.org/works/10.1136/JMG.16.4.323

Journal of Medical Genetics

9 June 2023

published in

1 reference

28 July 2017

volume

16

1 reference

28 July 2017

issue

4

1 reference

28 July 2017

page(s)

323-327

1 reference

Partial trisomy 1, karyotype 46,XY,12-,t(1q, 12p)+

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=1012682

Partial monosomy or trisomy resulting from crossing over within a rearranged chromosome 1

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012682

Primary hypothyroidism, growth hormone deficiency and congenital malformations in a child with the karyotype 46,XY,del(1)(q25q32).

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012682

Partial trisomy 1 due to a "shift" and probable location of the Duffy (Fy) locus

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012682

[De novo interstitial deletion Del (1) (q24 q32.1) in a malformed child]

21 June 2018

1 reference

12 December 2020

Trisomy of the long arm of human chromosome 1

1 reference

12 December 2020

[A new malformation-retardation syndrome (Wiedemann and Tolksdorf) (author's transl)]

1 reference

12 December 2020

An uncommon malformation-retardation syndrome with "sheep-like face" and associated with autosomal structural aberration (author's transl)

1 reference

12 December 2020

A partial trisomy of chromosome 1 in a family with a t(1q-;4q+) translocation

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.16.4.323

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=490590

6 July 2022

1 reference

28 July 2017

1 reference