(Q35889635)

English

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

scientific article published in August 1994

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

10 August 2017

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

1 reference

Europe PubMed Central

PMC publication ID

10 August 2017

multicenter clinical trial

0 references

fragile X syndrome

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

author name string

Rousseau F

1

1 reference

Europe PubMed Central

PMC publication ID

10 August 2017

Heitz D

2

1 reference

Europe PubMed Central

PMC publication ID

10 August 2017

Tarleton J

3

1 reference

Europe PubMed Central

PMC publication ID

10 August 2017

MacPherson J

4

1 reference

Europe PubMed Central

PMC publication ID

10 August 2017

Malmgren H

5

1 reference

Europe PubMed Central

PMC publication ID

10 August 2017

Dahl N

6

1 reference

Europe PubMed Central

PMC publication ID

10 August 2017

Barnicoat A

7

1 reference

Europe PubMed Central

PMC publication ID

10 August 2017

Mathew C

8

1 reference

Europe PubMed Central

PMC publication ID

10 August 2017

Mornet E

9

1 reference

Europe PubMed Central

PMC publication ID

10 August 2017

Tejada I

10

1 reference

Europe PubMed Central

PMC publication ID

10 August 2017

language of work or name

0 references

publication date

1 August 1994

1 reference

Europe PubMed Central

PMC publication ID

10 August 2017

American Journal of Human Genetics

1 reference

Europe PubMed Central

PMC publication ID

10 August 2017

55

1 reference

Europe PubMed Central

PMC publication ID

10 August 2017

2

1 reference

Europe PubMed Central

PMC publication ID

10 August 2017

225-237

1 reference

Europe PubMed Central

PMC publication ID

10 August 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918361

11 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918361

11 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918361

11 July 2018

Trinucleotide repeat instability: when and where?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918361

11 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918361

11 July 2018

Evidence that methylation of the FMR-I locus is responsible for variable phenotypic expression of the fragile X syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918361

11 July 2018

Linkage disequilibrium between the fragile X mutation and two closely linked CA repeats suggests that fragile X chromosomes are derived from a small number of founder chromosomes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918361

11 July 2018

Implications of fragile X expression in normal males for the nature of the mutation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918361

11 July 2018

Fragile Xq27.3 in female heterozygotes for the Martin-Bell syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918361

11 July 2018

Fragile X genotype characterized by an unstable region of DNA.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918361

11 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918361

11 July 2018

Prenatal diagnosis of fragile X syndrome by direct detection of the unstable DNA sequence

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918361

11 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918361

11 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918361

11 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918361

11 July 2018

Genotype prediction in the fragile X syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918361

11 July 2018

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

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918361

11 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918361

11 July 2018

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

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918361

11 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918361

11 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918361

11 July 2018

Genotype mosaicism in fragile X fetal tissues

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918361

11 July 2018

Fragile X syndrome without CCG amplification has an FMR1 deletion

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918361

11 July 2018

DNA methylation represses FMR-1 transcription in fragile X syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918361

11 July 2018

Methylation analysis of CGG sites in the CpG island of the human FMR1 gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918361

11 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918361

24 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918361

24 September 2018

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

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918361

24 September 2018

Inactivation pattern of the fragile X in heterozygous carriers.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918361

24 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918361

24 September 2018

Preventive screening for the fragile X syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/8037202

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Analysis of full fragile X mutations in fetal tissues and monozygotic twins indicate that abnormal methylation and somatic heterogeneity are established early in development

1 reference

https://pubmed.ncbi.nlm.nih.gov/8037202

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A reinvestigation of thirty three fragile(X) families using probe StB12.3

1 reference

https://pubmed.ncbi.nlm.nih.gov/8037202

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Evidence of founder chromosomes in fragile X syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/8037202

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

10 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

10 August 2017

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