(Q81140946)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16133176%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

title

DNA methylation and replication: implications for the "deletion hotspot" region of FMR1 (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16133176%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

author name string

K Nichol Edamura

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16133176%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

C E Pearson

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16133176%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

publication date

15 November 2005

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16133176%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16133176%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

volume

118

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16133176%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

page(s)

301-304

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16133176%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16133176%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1007/s00439-005-0037-5

6 January 2020

exact match

0 references

cites work

The fragile X phenotype in a mosaic male with a deletion showing expression of the FMR1 protein in 28% of the cells.

1 reference

12 December 2020

Length of uninterrupted CGG repeats determines instability in the FMR1 gene

1 reference

12 December 2020

Mosaicism of a microdeletion of 486 bp involving the CGG repeat of the FMR1 gene due to misalignment of GTT tandem repeats at chi-like elements flanking both breakpoints and a full mutation.

1 reference

12 December 2020

Unusual mutations in high functioning fragile X males: apparent instability of expanded unmethylated CGG repeats

1 reference

12 December 2020

Mosaicism for an FMR1 gene deletion in a fragile X female.

1 reference

12 December 2020

Hotspot for deletions in the CGG repeat region of FMR1 in fragile X patients

1 reference

12 December 2020

Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment

1 reference

12 December 2020

Clinical and molecular studies in fragile X patients with a Prader-Willi-like phenotype

1 reference

12 December 2020

Fragile X syndrome and deletions in FMR1: new case and review of the literature

1 reference

12 December 2020

Deletion of all CGG repeats plus flanking sequences in FMR1 does not abolish gene expression

1 reference

12 December 2020

Mosaicism in a fragile X male including a de novo deletion in the FMR1 gene.

1 reference

12 December 2020

Spontaneous deletion in the FMR1 gene in a patient with fragile X syndrome and cherubism.

1 reference

12 December 2020

Mosaicism for the full mutation and a microdeletion involving the CGG repeat and flanking sequences in the FMR1 gene in eight fragile X patients.

1 reference

12 December 2020

Fragile X genotype characterized by an unstable region of DNA.

1 reference

12 December 2020

Mosaicism for the fragile X syndrome full mutation and deletions within the CGG repeat of the FMR1 gene

1 reference

12 December 2020

Deletion in the FMR1 gene in a fragile-X male

1 reference

12 December 2020

Role of replication and CpG methylation in fragile X syndrome CGG deletions in primate cells

1 reference

12 December 2020

Sequence analysis of the fragile X trinucleotide repeat: implications for the origin of the fragile X mutation

1 reference

12 December 2020