(Q73807864)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10818218%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

title

Molecular diagnosis of the fragile X and FRAXE syndromes in patients with mental retardation of unknown cause in Mexico (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10818218%20AND%20SRC:MED&resulttype=core&format=json

Ariadna González-Del Angel

6 November 2019

author

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10818218%20AND%20SRC:MED&resulttype=core&format=json

Miguel Angel Macias-Islas

6 November 2019

1 reference

ORCID Public Data File 2021

author name string

S Vidal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10818218%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

Y Saldaña

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10818218%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

V del Castillo

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10818218%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

M Angel Alcántara

5

1 reference

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6 November 2019

M Macías

6

1 reference

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6 November 2019

J Pedro Luna

7

1 reference

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6 November 2019

L Orozco

8

1 reference

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6 November 2019

publication date

1 January 2000

1 reference

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6 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10818218%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

volume

43

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10818218%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

issue

1

1 reference

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6 November 2019

page(s)

29-34

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10818218%20AND%20SRC:MED&resulttype=core&format=json

Physical mapping across the fragile X: hypermethylation and clinical expression of the fragile X syndrome

6 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0003-3995%2800%2900018-6

A general method for isolation of high molecular weight DNA from eukaryotes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-3995%2800%2900018-6

DNA diagnosis of FRAXA and FRAXE in Chinese children with neurodevelopmental disorders and fragile X syndrome.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-3995%2800%2900018-6

7 January 2021

The fragile X syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0003-3995%2800%2900018-6

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-3995%2800%2900018-6

Identification of the gene FMR2, associated with FRAXE mental retardation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-3995%2800%2900018-6

Identification of FMR2, a novel gene associated with the FRAXE CCG repeat and CpG island

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-3995%2800%2900018-6

Fully mutated and gray-zone FRAXA alleles in Brazilian mentally retarded boys

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-3995%2800%2900018-6

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-3995%2800%2900018-6

The identification of a third fragile site, FRAXF, in Xq27--q28 distal to both FRAXA and FRAXE

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-3995%2800%2900018-6

Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-3995%2800%2900018-6

FRAXE and mental retardation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-3995%2800%2900018-6

Population screening at the FRAXA and FRAXE loci: molecular analyses of boys with learning difficulties and their mothers.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-3995%2800%2900018-6

Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-3995%2800%2900018-6

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-3995%2800%2900018-6

Isolation of a GCC repeat showing expansion in FRAXF, a fragile site distal to FRAXA and FRAXE

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-3995%2800%2900018-6

Molecular and cytogenetic analysis of the fragile X syndrome in a series of 453 mentally retarded subjects: a study of 87 families

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-3995%2800%2900018-6

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-3995%2800%2900018-6

Parental origin of the Fra(X) gene is a major determinant of the cytogenetic expression and the CGG repeat length in female carriers

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-3995%2800%2900018-6

The fragile X syndrome: no evidence for any recent mutations

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-3995%2800%2900018-6

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-3995%2800%2900018-6

Frequency of fragile X syndrome among Turkish patients with mental retardation of unknown etiology.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-3995%2800%2900018-6

Prevalence of fragile X syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-3995%2800%2900018-6

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-3995%2800%2900018-6

A rapid, non-radioactive screening test for fragile X mutations at the FRAXA and FRAXE loci

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-3995%2800%2900018-6

Mitotic stability of fragile X mutations in differentiated cells indicates early post-conceptional trinucleotide repeat expansion.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-3995%2800%2900018-6

Fragile X genotype characterized by an unstable region of DNA.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-3995%2800%2900018-6

Frequency of the fragile X syndrome in Chinese mentally retarded populations is similar to that in Caucasians.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-3995%2800%2900018-6

10.1016/S0003-3995(00)00018-6

7 January 2021

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10818218%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

1 reference