(Q71578938)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8826478%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

title

Fragile X founder chromosomes in Italy: a few initial events and possible explanation for their heterogeneity (English)

1 reference

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19 October 2019

1 reference

1 reference

2

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19 October 2019

Cecilia Bussani

5

1 reference

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19 October 2019

author name string

Chiurazzi P

1

1 reference

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19 October 2019

Kozak L

3

1 reference

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19 October 2019

Giovannucci-Uzielli ML

4

1 reference

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19 October 2019

Dagna-Bricarelli F

6

1 reference

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19 October 2019

Grasso M

7

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19 October 2019

Perroni L

8

1 reference

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19 October 2019

Sebastio G

9

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19 October 2019

Sperandeo MP

10

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19 October 2019

Oostra BA

11

1 reference

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19 October 2019

Neri G

12

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19 October 2019

publication date

1 July 1996

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American Journal of Medical Genetics Part A

19 October 2019

published in

1 reference

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19 October 2019

volume

64

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19 October 2019

issue

1

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19 October 2019

page(s)

209-215

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Founder effect in a Belgian-Dutch fragile X population

19 October 2019

cites work

1 reference

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Fragile X founder effect?

21 January 2018

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The evolutionary dynamics of repetitive DNA in eukaryotes

21 January 2018

1 reference

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Extended gene diversity at the FMR1 locus and neighbouring CA repeats in a sub-Saharan population

21 January 2018

1 reference

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Conservation of CGG region in FMR1 gene in mammals

21 January 2018

1 reference

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Mutational processes of simple-sequence repeat loci in human populations.

21 January 2018

1 reference

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Length of uninterrupted CGG repeats determines instability in the FMR1 gene

21 January 2018

1 reference

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The fragile X syndrome d(CGG)n nucleotide repeats form a stable tetrahelical structure

21 January 2018

1 reference

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

21 January 2018

1 reference

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Trinucleotide repeats that expand in human disease form hairpin structures in vitro

21 January 2018

1 reference

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The 1993-94 Généthon human genetic linkage map

21 January 2018

1 reference

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A study of the origin of 'shadow bands' seen when typing dinucleotide repeat polymorphisms by the PCR

21 January 2018

1 reference

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Origins of the fragile X syndrome mutation

21 January 2018

1 reference

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Precursor arrays for triplet repeat expansion at the fragile X locus

21 January 2018

1 reference

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Population studies of the fragile X: a molecular approach

21 January 2018

1 reference

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Expansion and deletion of CTG repeats from human disease genes are determined by the direction of replication in E. coli.

21 January 2018

1 reference

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Population genetics of fragile X: a multiple allele model with variable risk of CGG repeat expansion.

21 January 2018

1 reference

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Trinucleotide repeats and genome variation

21 January 2018

1 reference

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Slippery DNA and diseases

21 January 2018

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

21 January 2018

1 reference

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Insert size and flanking haplotype in fragile X and normal populations: possible multiple origins for the fragile X mutation

21 January 2018

1 reference

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

21 January 2018

1 reference

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A polymorphic X-linked tetranucleotide repeat locus displaying a high rate of new mutation: implications for mechanisms of mutation at short tandem repeat loci.

21 January 2018

1 reference

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Trinucleotide diseases on the rise

21 January 2018

1 reference

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21 January 2018

1 reference

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Evolutionary dynamics of the FMR1 locus.

21 January 2018

1 reference

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Population genetics of the fragile-X syndrome: multiallelic model for the FMR1 locus

21 January 2018

1 reference

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Simple repeat DNA is not replicated simply

21 January 2018

1 reference

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Fragile X syndrome: genetic localisation by linkage mapping of two microsatellite repeats FRAXAC1 and FRAXAC2 which immediately flank the fragile site

21 January 2018

1 reference

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Evidence of founder chromosomes in fragile X syndrome

21 January 2018

1 reference

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Haplotype analysis at the FRAXA locus in the Japanese population

21 January 2018

1 reference

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21 January 2018

1 reference

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Characterization of a highly polymorphic dinucleotide repeat 150 KB proximal to the fragile X site

21 January 2018

1 reference

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Microsatellite evolution--evidence for directionality and variation in rate between species

21 January 2018

1 reference

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Slippage synthesis of simple sequence DNA

21 January 2018

1 reference

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

21 January 2018

1 reference

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The fragile X syndrome: no evidence for any recent mutations

21 January 2018

1 reference

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

21 January 2018

1 reference

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Simple sequences are ubiquitous repetitive components of eukaryotic genomes.

21 January 2018

1 reference

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Cryptic simplicity in DNA is a major source of genetic variation.

21 January 2018

1 reference

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

21 January 2018

1 reference

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Population genetics of trinucleotide repeat polymorphisms

21 January 2018

1 reference

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Informativeness of human (dC-dA)n.(dG-dT)n polymorphisms

21 January 2018

1 reference

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Mutation of human short tandem repeats

21 January 2018

1 reference

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A second-generation linkage map of the human genome

21 January 2018

1 reference

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Dynamic mutations hit double figures

21 January 2018

1 reference

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A complex mutable polymorphism located within the fragile X gene.

21 January 2018

1 reference

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Fragile X founder chromosome effects: linkage disequilibrium or microsatellite heterogeneity?

21 January 2018

1 reference

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Distribution of FMR-1 and associated microsatellite alleles in a normal Chinese population.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960712%2964%3A1%3C209%3A%3AAID-AJMG38%3E3.0.CO%3B2-P

10.1002/(SICI)1096-8628(19960712)64:1<209::AID-AJMG38>3.0.CO;2-P

21 January 2018

Identifiers

DOI

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1 reference