(Q33593938)

28 July 2017

A complex chromosome rearrangement with 10 breakpoints: tentative assignment of the locus for Williams syndrome to 4q33----q35.1 (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1583646

11 October 2022

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1583646

11 October 2022

chromosome abnormality

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1583646

11 October 2022

1

R. Tupler

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1583646

11 October 2022

author name string

P. Maraschio

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1583646

11 October 2022

A. Gerardo

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1583646

11 October 2022

R. Mainieri

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1583646

11 October 2022

G. Lanzi

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1583646

11 October 2022

L. Tiepolo

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1583646

11 October 2022

language of work or name

English

0 references

publication date

1 April 1992

1 reference

full work available at URL

28 July 2017

https://europepmc.org/articles/PMC1015926

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1583646

https://europepmc.org/articles/PMC1015926?pdf=render

11 October 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%3A1583646

Journal of Medical Genetics

11 October 2022

published in

1 reference

28 July 2017

29

1 reference

28 July 2017

4

1 reference

28 July 2017

253-255

1 reference

A terminal deletion of the long arm of chromosome 4 [46,XX,del(4)(q33)] in an infant with phenotypic features of Williams syndrome.

28 July 2017

1 reference

PubMed Central

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015926

Complex chromosome rearrangements and congenital anomalies

21 June 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/1583646

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

High resolution R- and G-banding on the same preparation

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/1583646

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

The Williams syndrome: objective definition and diagnosis

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/1583646

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMG.29.4.253

1 reference

28 July 2017

1 reference

28 July 2017

1 reference