(Q57304771)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7927336%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

title

Molecular analysis of the (CGG)n expansion in the FMR-1 gene in 59 Spanish fragile X syndrome families (English)

1 reference

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28 October 2019

1 reference

1

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28 October 2019

Aurora Sanchez Diaz

4

1 reference

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28 October 2019

author name string

H Kruyer

2

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28 October 2019

G Glover

3

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28 October 2019

P Carbonell

5

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28 October 2019

S Castellví-Bell

6

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28 October 2019

V Volpini

7

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28 October 2019

J Rossell

8

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28 October 2019

J Gabarrón

9

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28 October 2019

I López

10

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28 October 2019

publication date

1 October 1994

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28 October 2019

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28 October 2019

volume

94

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28 October 2019

issue

4

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28 October 2019

page(s)

395-400

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

28 October 2019

cites work

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Frequent small amplifications in the FMR-1 gene in fra(X) families: limits to the diagnosis of 'premutations'

1 reference

12 December 2020

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

1 reference

12 December 2020

Population incidence and segregation ratios in the Martin-Bell syndrome.

1 reference

12 December 2020

An extensive de novo deletion removing FMR1 in a patient with mental retardation and the fragile X syndrome phenotype

1 reference

12 December 2020

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

1 reference

12 December 2020

A simple salting out procedure for extracting DNA from human nucleated cells

1 reference

12 December 2020

Fragile X syndrome and the (CGG)n mutation: two families with discordant MZ twins

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Abnormal pattern detected in fragile-X patients by pulsed-field gel electrophoresis

1 reference

12 December 2020

Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n

1 reference

12 December 2020

1 reference

12 December 2020

Heritable fragile sites on human chromosomes I. Factors affecting expression in lymphocyte culture

1 reference

12 December 2020

Fragile X expression and X inactivation. I. The expression of the fragile site at Xq27.3 is not suppressed on inactive X chromosomes separated from the active homologue

1 reference

12 December 2020

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

1 reference

12 December 2020

Fragile X syndrome without CCG amplification has an FMR1 deletion

1 reference

12 December 2020

Cytogenetic versus DNA diagnosis in routine referrais for fragile X syndrome

1 reference

12 December 2020

On some technical aspects of direct DNA diagnosis of the fragile X syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

A PEDIGREE OF MENTAL DEFECT SHOWING SEX-LINKAGE.

1 reference

12 December 2020

Fragile X genotype characterized by an unstable region of DNA.

1 reference

12 December 2020

Polymerase chain reaction analysis of fragile X mutations

1 reference

12 December 2020

Fragile X expression and X inactivation. II. The fragile site at Xq27.3 has a basic function in the pathogenesis of fragile X-linked mental retardation.

1 reference

12 December 2020

Prevalence of the fragile-X syndrome in mentally retarded boys in a Swedish county.

1 reference

12 December 2020

A marker X chromosome

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00201600

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7927336%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

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