(Q35881685)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8651263%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

title

Mental status of females with an FMR1 gene full mutation (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8651263%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

author name string

B B de Vries

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8651263%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

A M Wiegers

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8651263%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

A P Smits

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8651263%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

S Mohkamsing

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8651263%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

H J Duivenvoorden

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8651263%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

J P Fryns

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8651263%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

L M Curfs

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8651263%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

D J Halley

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8651263%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

B A Oostra

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8651263%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

A M van den Ouweland

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8651263%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

M F Niermeijer

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8651263%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

language of work or name

English

0 references

publication date

1 May 1996

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8651263%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

16 October 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8651263%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

volume

58

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8651263%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

issue

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8651263%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

page(s)

1025-1032

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8651263%20AND%20SRC:MED&resulttype=core&format=json

Neurobehavioral effects of the fragile X premutation in adult women: a controlled study.

16 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=1914633

Genotype-phenotype relationships in fragile X syndrome: a family study.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914633

Guidelines for the diagnosis of fragile X syndrome. National Fragile X Foundation

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914633

Modeling methylation and IQ scores in fragile X females and mosaic males

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914633

The X inactivation centre and X chromosome imprinting.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914633

Contribution of the FMR1 gene mutation to human intellectual dysfunction

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914633

Fragile (X) X-linked mental retardation. II. Frequency and replication pattern of fragile (X)(q28) in heterozygotes

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914633

A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914633

27 July 2018

A marker X chromosome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914633

X chromosome inactivation mosaicism in the mouse

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914633

Organization of abilities and the development of intelligence

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914633

Primordial cell pool size and lineage relationships of five human cell types

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914633

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914633

The frequency of the fragile X chromosome among schoolchildren in Coventry

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914633

The nucleotide sequence of chicken smooth muscle myosin light chain two

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914633

Fra(X) frequency on the active X-chromosome and phenotype in heterozygous carriers of the fra(X) form of mental retardation

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914633

Fragile X genotype characterized by an unstable region of DNA.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914633

Heterozygous fragile X female: historical, physical, cognitive, and cytogenetic features

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914633

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914633

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914633

Selection in blood cells from female carriers of the fragile X syndrome: inverse correlation between age and proportion of active X chromosomes carrying the full mutation

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914633

Girls with fragile X syndrome: physical and neurocognitive status and outcome

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914633

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914633

Fragile sites on human chromosomes: demonstration of their dependence on the type of tissue culture medium

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914633

Mental status and fragile X expression in relation to FMR-1 gene mutation.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914633

A multicenter study on genotype-phenotype correlations in the fragile X syndrome, using direct diagnosis with probe StB12.3: the first 2,253 cases

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914633

Molecular-neurobehavioral associations in females with the fragile X full mutation.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914633

Carrier detection and X-inactivation studies in the fragile X syndrome. Cytogenetic studies in 63 obligate and potential carriers of the fragile X.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914633

Fragile (X) X-linked mental retardation I: relationship between age and intelligence and the frequency of expression of fragil (X)(q28).

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914633

Inactivation pattern of the fragile X in heterozygous carriers.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914633

Heterozygous female carriers of the marker-X-chromosome: IQ estimation and replication status of fra(X)(q).

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914633

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=1914633

X-chromosome inactivation mosaicism in the three germ layers and the germ line of the mouse embryo

24 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/8651263

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Molecular predictors of cognitive involvement in female carriers of fragile X syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/8651263

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:8651263%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

1 reference