(Q40793010)

23 September 2017

Transcription of the FMR1 gene in individuals with fragile X syndrome (English)

1 reference

23 September 2017

1 reference

Tassone F

1

1 reference

23 September 2017

Hagerman RJ

series ordinal

2

1 reference

23 September 2017

Chamberlain WD

series ordinal

3

1 reference

23 September 2017

Hagerman PJ

series ordinal

4

1 reference

23 September 2017

language of work or name

1 reference

1 January 2000

1 reference

American Journal of Medical Genetics Part A

23 September 2017

1 reference

23 September 2017

97

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23 September 2017

3

1 reference

23 September 2017

195-203

1 reference

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

23 September 2017

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200023%2997%3A3%3C195%3A%3AAID-AJMG1037%3E3.0.CO%3B2-R

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200023%2997%3A3%3C195%3A%3AAID-AJMG1037%3E3.0.CO%3B2-R

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%28200023%2997%3A3%3C195%3A%3AAID-AJMG1037%3E3.0.CO%3B2-R

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%28200023%2997%3A3%3C195%3A%3AAID-AJMG1037%3E3.0.CO%3B2-R

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%28200023%2997%3A3%3C195%3A%3AAID-AJMG1037%3E3.0.CO%3B2-R

Translational suppression by trinucleotide repeat expansion at FMR1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200023%2997%3A3%3C195%3A%3AAID-AJMG1037%3E3.0.CO%3B2-R

Genotype-phenotype relationship in female carriers of the premutation and full mutation of FMR-1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200023%2997%3A3%3C195%3A%3AAID-AJMG1037%3E3.0.CO%3B2-R

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%28200023%2997%3A3%3C195%3A%3AAID-AJMG1037%3E3.0.CO%3B2-R

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%28200023%2997%3A3%3C195%3A%3AAID-AJMG1037%3E3.0.CO%3B2-R

Allelic discrimination by nick-translation PCR with fluorogenic probes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200023%2997%3A3%3C195%3A%3AAID-AJMG1037%3E3.0.CO%3B2-R

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200023%2997%3A3%3C195%3A%3AAID-AJMG1037%3E3.0.CO%3B2-R

Phenotypic variation in male-transmitted fragile X: genetic inferences.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200023%2997%3A3%3C195%3A%3AAID-AJMG1037%3E3.0.CO%3B2-R

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%28200023%2997%3A3%3C195%3A%3AAID-AJMG1037%3E3.0.CO%3B2-R

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%28200023%2997%3A3%3C195%3A%3AAID-AJMG1037%3E3.0.CO%3B2-R

Examination of factors that influence the expansion of the fragile X mutation in a sample of conceptuses from known carrier females.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200023%2997%3A3%3C195%3A%3AAID-AJMG1037%3E3.0.CO%3B2-R

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%28200023%2997%3A3%3C195%3A%3AAID-AJMG1037%3E3.0.CO%3B2-R

DNA methylation represses FMR-1 transcription in fragile X syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200023%2997%3A3%3C195%3A%3AAID-AJMG1037%3E3.0.CO%3B2-R

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200023%2997%3A3%3C195%3A%3AAID-AJMG1037%3E3.0.CO%3B2-R

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%28200023%2997%3A3%3C195%3A%3AAID-AJMG1037%3E3.0.CO%3B2-R

Characterization and localization of the FMR-1 gene product associated with fragile X syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200023%2997%3A3%3C195%3A%3AAID-AJMG1037%3E3.0.CO%3B2-R

Rapid antibody test for fragile X syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200023%2997%3A3%3C195%3A%3AAID-AJMG1037%3E3.0.CO%3B2-R

Rapid antibody test for diagnosing fragile X syndrome: a validation of the technique.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200023%2997%3A3%3C195%3A%3AAID-AJMG1037%3E3.0.CO%3B2-R

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%28200023%2997%3A3%3C195%3A%3AAID-AJMG1037%3E3.0.CO%3B2-R

Characteristics of the transmission of the FMR1 gene from carrier females in a prospective sample of conceptuses

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200023%2997%3A3%3C195%3A%3AAID-AJMG1037%3E3.0.CO%3B2-R

10.1002/1096-8628(200023)97:3<195::AID-AJMG1037>3.0.CO;2-R

21 January 2018

Identifiers

DOI

1 reference

23 September 2017

1 reference