(Q33597898)

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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

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Europe PubMed Central

PubMed publication ID

28 July 2017

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 (English)

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

fragile X syndrome

1 reference

based on heuristic

inferred from title

author name string

Rousseau F

1

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Heitz D

2

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Oberlé I

3

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Mandel JL

4

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

language of work or name

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publication date

1 December 1991

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Journal of Medical Genetics

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Europe PubMed Central

PubMed publication ID

28 July 2017

28

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

12

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

830-836

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Heterozygous expression of X-linked mental retardation and X-chromosome marker fra(X)(q27).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017159

21 June 2018

Deleted X chromosomes in patients with 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=1017159

21 June 2018

A premutation that generates a defect at crossing over explains the inheritance of 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=1017159

21 June 2018

Fragile X syndrome: a hypothesis regarding the molecular mechanism of the phenotype

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017159

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017159

21 June 2018

Mechanisms of X-chromosome regulation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017159

21 June 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=1017159

21 June 2018

Physical mapping across the fragile X: hypermethylation and clinical 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=1017159

21 June 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=1017159

21 June 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=1017159

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017159

21 June 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=1017159

30 October 2018

Isolation of sequences that span the fragile X and identification of a fragile X-related CpG island

1 reference

https://pubmed.ncbi.nlm.nih.gov/1757958

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/JMG.28.12.830

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

release_mxzafzovvvgwzgf7i3nuyyi66u

1 reference

https://api.fatcat.wiki/v0/release/mxzafzovvvgwzgf7i3nuyyi66u

24 November 2022

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mapped directly with Wikidata item

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

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