(Q51973841)

19 April 2018

title

Fragile X males with unmethylated, full mutation trinucleotide repeat expansions have elevated levels of FMR1 messenger RNA. (English)

1 reference

19 April 2018

author name string

Tassone F

1

1 reference

19 April 2018

Hagerman RJ

2

1 reference

19 April 2018

Loesch DZ

3

1 reference

19 April 2018

Lachiewicz A

4

1 reference

19 April 2018

Taylor AK

5

1 reference

19 April 2018

Hagerman PJ

6

1 reference

19 April 2018

publication date

1 September 2000

1 reference

19 April 2018

American Journal of Medical Genetics Part A

published in

1 reference

19 April 2018

volume

94

1 reference

19 April 2018

issue

3

1 reference

19 April 2018

page(s)

232-236

1 reference

19 April 2018

Rapid fragile X carrier screening and prenatal diagnosis using a nonradioactive PCR test.

cites work

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000918%2994%3A3%3C232%3A%3AAID-AJMG9%3E3.0.CO%3B2-H

Hypomethylation of an expanded FMR1 allele is not associated with a global DNA methylation defect

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000918%2994%3A3%3C232%3A%3AAID-AJMG9%3E3.0.CO%3B2-H

Variable FMR1 gene methylation of large expansions leads to variable phenotype in three males from one fragile X family

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000918%2994%3A3%3C232%3A%3AAID-AJMG9%3E3.0.CO%3B2-H

The FMR-1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000918%2994%3A3%3C232%3A%3AAID-AJMG9%3E3.0.CO%3B2-H

Behavioral and psychiatric disorders in adult male carriers of fragile X.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000918%2994%3A3%3C232%3A%3AAID-AJMG9%3E3.0.CO%3B2-H

Quantitative comparison of FMR1 gene expression in normal and premutation alleles

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000918%2994%3A3%3C232%3A%3AAID-AJMG9%3E3.0.CO%3B2-H

Translational suppression by trinucleotide repeat expansion at FMR1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000918%2994%3A3%3C232%3A%3AAID-AJMG9%3E3.0.CO%3B2-H

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000918%2994%3A3%3C232%3A%3AAID-AJMG9%3E3.0.CO%3B2-H

High functioning fragile X males: demonstration of an unmethylated fully expanded FMR-1 mutation associated with protein expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000918%2994%3A3%3C232%3A%3AAID-AJMG9%3E3.0.CO%3B2-H

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000918%2994%3A3%3C232%3A%3AAID-AJMG9%3E3.0.CO%3B2-H

A fragile X male with a broad smear on Southern blot analysis representing 100-500 CGG repeats and no methylation at the EagI site of the FMR-1 gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000918%2994%3A3%3C232%3A%3AAID-AJMG9%3E3.0.CO%3B2-H

Transmitting males and carrier females in fragile X--revisited.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000918%2994%3A3%3C232%3A%3AAID-AJMG9%3E3.0.CO%3B2-H

Fragile X syndrome in a normal IQ male with learning and emotional problems.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000918%2994%3A3%3C232%3A%3AAID-AJMG9%3E3.0.CO%3B2-H

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000918%2994%3A3%3C232%3A%3AAID-AJMG9%3E3.0.CO%3B2-H

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000918%2994%3A3%3C232%3A%3AAID-AJMG9%3E3.0.CO%3B2-H

No mental retardation in a man with 40% abnormal methylation at the FMR-1 locus and transmission of sperm cell mutations as premutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000918%2994%3A3%3C232%3A%3AAID-AJMG9%3E3.0.CO%3B2-H

Normal phenotype in two brothers with a full FMR1 mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000918%2994%3A3%3C232%3A%3AAID-AJMG9%3E3.0.CO%3B2-H

Prediction of mental status in carriers of the fragile X mutation using CGG repeat length.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000918%2994%3A3%3C232%3A%3AAID-AJMG9%3E3.0.CO%3B2-H

Clinical involvement and protein expression in individuals with the FMR1 premutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000918%2994%3A3%3C232%3A%3AAID-AJMG9%3E3.0.CO%3B2-H

Elevated levels of FMR1 mRNA in carrier males: a new mechanism of involvement in the fragile-X syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000918%2994%3A3%3C232%3A%3AAID-AJMG9%3E3.0.CO%3B2-H

FMR1 fully expanded mutation with minimal methylation in a high functioning fragile X male

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000918%2994%3A3%3C232%3A%3AAID-AJMG9%3E3.0.CO%3B2-H

Unusual mutations in high functioning fragile X males: apparent instability of expanded unmethylated CGG repeats

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000918%2994%3A3%3C232%3A%3AAID-AJMG9%3E3.0.CO%3B2-H

10.1002/1096-8628(20000918)94:3<232::AID-AJMG9>3.0.CO;2-H

21 January 2018

Identifiers

DOI

1 reference

19 April 2018

1 reference

19 April 2018