(Q35882271)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8940270%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

title

Familial transmission of the FMR1 CGG repeat (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8940270%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8940270%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

author name string

S L Nolin

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8940270%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

F A Lewis

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8940270%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

L L Ye

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8940270%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

G E Houck

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8940270%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

A E Glicksman

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8940270%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

S Y Li

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8940270%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

N Zhong

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8940270%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

A E Ashley

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8940270%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

E Feingold

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8940270%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

S L Sherman

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8940270%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

W T Brown

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8940270%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

language of work or name

English

0 references

publication date

1 December 1996

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8940270%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

21 October 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8940270%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

volume

59

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8940270%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8940270%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

page(s)

1252-1261

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8940270%20AND%20SRC:MED&resulttype=core&format=json

Haplotype and interspersion analysis of the FMR1 CGG repeat identifies two different mutational pathways for the origin of the fragile X syndrome.

21 October 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914886

Population dynamics of a meiotic/mitotic expansion model for the fragile X syndrome

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914886

Expansion of the CGG repeat in fragile X in the FMR1 gene depends on the sex of the offspring

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914886

A point mutation in the FMR-1 gene associated with fragile X mental retardation

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914886

A deletion of 1.6 kb proximal to the CGG repeat of the FMR1 gene causes the clinical phenotype of the fragile X syndrome

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914886

Frequency and stability of the fragile X premutation.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914886

Length of uninterrupted CGG repeats determines instability in the FMR1 gene

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914886

Analysis of a CGG sequence at the FMR-1 locus in fragile X families and in the general population

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914886

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914886

Two new cases of FMR1 deletion associated with mental impairment.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914886

Unusual (CGG)n expansion and recombination in a family with fragile X and DiGeorge syndrome

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914886

The fragile X premutation in carriers and its effect on mutation size in offspring

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914886

FMR1 protein: conserved RNP family domains and selective RNA binding

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914886

Intragenic loss of function mutations demonstrate the primary role of FMR1 in fragile X syndrome

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914886

Fragile X gene instability: anchoring AGGs and linked microsatellites

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914886

Further segregation analysis of the fragile X syndrome with special reference to transmitting males

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914886

Genetic risks for children of women with myotonic dystrophy

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914886

Absence of expression of the FMR-1 gene in fragile X syndrome

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914886

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914886

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914886

A microdeletion of less than 250 kb, including the proximal part of the FMR-I gene and the fragile-X site, in a male with the clinical phenotype of fragile-X syndrome

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914886

Fragile-X syndrome: unique genetics of the heritable unstable element

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914886

Inheritance of the fragile X syndrome: size of the fragile X premutation is a major determinant of the transition to full mutation

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914886

Correlation between CTG trinucleotide repeat length and frequency of severe congenital myotonic dystrophy

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914886

Fragile X syndrome without CCG amplification has an FMR1 deletion

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914886

Reverse mutations in the fragile X syndrome.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914886

Prenatal diagnosis and carrier screening for fragile X by PCR.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914886

Rapid fragile X carrier screening and prenatal diagnosis using a nonradioactive PCR test.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914886

The full mutation in the FMR-1 gene of male fragile X patients is absent in their sperm.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914886

Molecular analysis of juvenile Huntington disease: the major influence on (CAG)n repeat length is the sex of the affected parent.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914886

Cryptic and polar variation of the fragile X repeat could result in predisposing normal alleles.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914886

The marker (X) syndrome: a cytogenetic and genetic analysis.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914886

Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914886

Heritable unstable DNA sequences

24 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/8940270

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Precursor arrays for triplet repeat expansion at the fragile X locus

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/8940270

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Diagnosis of fragile X syndrome by direct mutation analysis

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/8940270

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8940270%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

1 reference