(Q35198003)

7 August 2017

Mental retardation in heterozygotes for the fragile-X mutation: evidence in favor of an X inactivation-dependent effect (English)

1 reference

7 August 2017

M Rocchi

1

1 reference

7 August 2017

N Archidiacono

2

1 reference

7 August 2017

A Rinaldi

3

1 reference

7 August 2017

G Filippi

4

1 reference

7 August 2017

G Bartolucci

5

1 reference

7 August 2017

G S Fancello

6

1 reference

7 August 2017

M Siniscalco

7

1 reference

7 August 2017

language of work or name

English

0 references

publication date

1 April 1990

1 reference

American Journal of Human Genetics

7 August 2017

1 reference

7 August 2017

46

1 reference

7 August 2017

4

1 reference

7 August 2017

738-743

1 reference

Studies of Glucose-6-Phosphate Dehydrogenase Activity of Individual Erythrocytes: The Methemoglobin-Elution Test for Identification of Females Heterozygous for G6PD Deficiency

7 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683671

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683671

Adrenoleukodystrophy: evidence for X linkage, inactivation, and selection favoring the mutant allele in heterozygous cells

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683671

Additional evidence for fragile X activity in heterozygous carriers.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683671

Brief report: linkage between G6PD and fragile-X syndrome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683671

Activity of the fragile X in heterozygous carriers

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683671

Evidence for intergenic complementation in hybrid cells derived from two human diploid strains each carrying an X-linked mutation

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683671

Developmental implications of multiple tissue studies in glucose-6-phosphate dehydrogenase-deficient heterozygotes

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683671

A premutation that generates a defect at crossing over explains the inheritance of fragile X mental retardation

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683671

Frequency and replication status of the fragile X, fra(X)(q27-28), in a pair of monozygotic twins of markedly differing intelligence

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683671

Replication status of fragile X(q27.3) in 13 female heterozygotes

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683671

Proposed mechanism of inheritance and expression of the human fragile-X syndrome of mental retardation

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683671

The myoblast defect identified in Duchenne muscular dystrophy is not a primary expression of the DMD mutation. Clonal analysis of myoblasts from five double heterozygotes for two X-linked loci: DMD and G6PD.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683671

X-linked mental retardation. I. Martin-Bell syndrome (report of 18 families).

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683671

Genetic analysis of the fragile-X mental retardation syndrome with two flanking polymorphic DNA markers

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683671

Linkage studies of X-linked mental retardation: high frequency of recombination in the telomeric region of the human X chromosome (fragile site/linkage/recombination/X chromosome).

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683671

Selection against lethal alleles in females heterozygous for incontinentia pigmenti

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683671

Variability of red cell phenotypes between and within individuals in an unbiased sample of 77 heterozygotes for G6PD deficiency in Sardinia

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683671

X-linked mental retardation: a study of 7 families.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683671

Replication status of the fragile X chromosome, fra(X)(q27), in three heterozygous females.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683671

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

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683671

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

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683671

Inactivation pattern of the fragile X in heterozygous carriers.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683671

Heterozygous female carriers of the marker-X-chromosome: IQ estimation and replication status of fra(X)(q).

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683671

Deleted X chromosomes in patients with the fragile X syndrome.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683671

A tetrazolium method for distinguishing between cultured human fibroblasts having either normal or deficient levels of glucose-6-phosphate dehydrogenase

26 September 2018

1 reference

12 December 2020

Genetic recombination and disease

1 reference

12 December 2020

DNA linkage studies in the fragile X syndrome suggest genetic heterogeneity

1 reference

12 December 2020

Replication pattern in XXY cells with fra(X)

1 reference

12 December 2020

Identifiers

PMCID

1683671

1 reference

7 August 2017

1 reference