(Q52042510)

20 April 2018

title

Fragile X syndrome without CCG amplification has an FMR1 deletion (English)

1 reference

PubMed ID

1302032

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1302032

10 September 2022

1 reference

1 reference

PubMed ID

1302032

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1302032

10 September 2022

6

Manca A

1 reference

PubMed ID

1302032

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1302032

10 September 2022

author name string

Gedeon AK

1

1 reference

20 April 2018

Baker E

2

1 reference

20 April 2018

Robinson H

3

1 reference

20 April 2018

Partington MW

4

1 reference

20 April 2018

Gross B

5

1 reference

20 April 2018

Korn B

7

1 reference

20 April 2018

Poustka A

8

1 reference

20 April 2018

Yu S

9

1 reference

20 April 2018

Sutherland GR

10

1 reference

20 April 2018

language of work or name

English

0 references

publication date

1 August 1992

1 reference

20 April 2018

published in

Nature Genetics

1 reference

20 April 2018

volume

1

1 reference

20 April 2018

page(s)

341-344

1 reference

20 April 2018

issue

5

1 reference

20 April 2018

https://scigraph.springernature.com/pub.10.1038/ng0892-341

exact match

0 references

cites work

Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox

1 reference

https://api.crossref.org/works/10.1038%2FNG0892-341

Localization of the X inactivation centre on the human X chromosome in Xq13.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0892-341

Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0892-341

7 January 2021

Experience with direct molecular diagnosis of fragile X

1 reference

https://api.crossref.org/works/10.1038%2FNG0892-341

7 January 2021

Clinical screening score for the fragile X (Martin-Bell) syndrome

1 reference

https://api.crossref.org/works/10.1038%2FNG0892-341

7 January 2021

The common fragile site in band q27 of the human X chromosome is not coincident with the fragile X.

1 reference

https://api.crossref.org/works/10.1038%2FNG0892-341

7 January 2021

Characterisation of a new rare fragile site easily confused with the fragile X

1 reference

https://api.crossref.org/works/10.1038%2FNG0892-341

7 January 2021

Unusual X chromosome inactivation in a mentally retarded girl with an interstitial deletion Xq27: implications for the fragile X syndrome

1 reference

https://api.crossref.org/works/10.1038%2FNG0892-341

7 January 2021

Do sequences in Xq27.3 play a role in X inactivation?

1 reference

https://api.crossref.org/works/10.1038%2FNG0892-341

7 January 2021

Clinical and cytogenetic aspects of X-chromosome deletions

1 reference

https://api.crossref.org/works/10.1038%2FNG0892-341

7 January 2021

Nomenclature guidelines for X-linked mental retardation

1 reference

https://api.crossref.org/works/10.1038%2FNG0892-341

7 January 2021

Fragile X syndrome: genetic localisation by linkage mapping of two microsatellite repeats FRAXAC1 and FRAXAC2 which immediately flank the fragile site

1 reference

https://api.crossref.org/works/10.1038%2FNG0892-341

7 January 2021

Genomic Organization of Human Centromeric Alpha Satellite DNA: Characterization of a Chromosome 17 Alpha Satellite Sequence

1 reference

https://api.crossref.org/works/10.1038%2FNG0892-341

7 January 2021

Molecular cloning and analysis of the fragile X region in man

1 reference

https://api.crossref.org/works/10.1038%2FNG0892-341

7 January 2021

Yeast artificial chromosome-based genome mapping: some lessons from Xq24-q28.

1 reference

https://api.crossref.org/works/10.1038%2FNG0892-341

7 January 2021

Genetic mapping of new RFLPs at Xq27–q28

1 reference

https://api.crossref.org/works/10.1038%2FNG0892-341

7 January 2021

Identifiers

DOI

10.1038/NG0892-341

1 reference

20 April 2018

Dimensions Publication ID

0 references

1 reference

20 April 2018