(Q34387221)

1 August 2017

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title

Single-cell analysis of unstable genes (English)

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1 August 2017

Daniels R

1

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1 August 2017

Holding C

series ordinal

2

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1 August 2017

Kontogianni E

series ordinal

3

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1 August 2017

Monk M

series ordinal

4

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1 August 2017

publication date

1 February 1996

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Journal of Assisted Reproduction and Genetics

1 August 2017

published in

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1 August 2017

volume

13

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1 August 2017

issue

2

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1 August 2017

page(s)

163-169

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

1 August 2017

cites work

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12 December 2020

Rapid amplification of complementary DNA ends for generation of full-length complementary DNAs: thermal RACE.

1 reference

12 December 2020

Advances in molecular analysis of fragile X syndrome

1 reference

12 December 2020

Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member.

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Myotonic dystrophy: size- and sex-dependent dynamics of CTG meiotic instability, and somatic mosaicism.

1 reference

12 December 2020

Robust amplification and ethidium-visible detection of the fragile X syndrome CGG repeat using Pfu polymerase

1 reference

12 December 2020

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

1 reference

12 December 2020

Myotonic dystrophy mutation: an unstable CTG repeat in the 3' untranslated region of the gene

1 reference

12 December 2020

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

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12 December 2020

Expression of the myotonin protein kinase gene in preimplantation human embryos.

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12 December 2020

Segregation of delta F508 and normal CFTR alleles in human sperm

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12 December 2020

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

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12 December 2020

Fragile X genotype characterized by an unstable region of DNA.

1 reference

12 December 2020

An unstable triplet repeat in a gene related to myotonic muscular dystrophy

1 reference

12 December 2020

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

12 December 2020

Detection of full fragile X mutation.

1 reference

12 December 2020

Gonosomal mosaicism in myotonic dystrophy patients: involvement of mitotic events in (CTG)n repeat variation and selection against extreme expansion in sperm.

1 reference

12 December 2020

Studying human mutations by sperm typing: instability of CAG trinucleotide repeats in the human androgen receptor gene.

1 reference

12 December 2020

Enhanced Fmr-1 expression in testis.

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12 December 2020

Presymptomatic diagnosis of myotonic dystrophy

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12 December 2020

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

1 reference

12 December 2020

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

12 December 2020

Trinucleotide repeat expansions and human genetic disease

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12 December 2020

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

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12 December 2020

Identifiers

DOI

10.1007/BF02072539

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Dimensions Publication ID

1 August 2017

1000123645

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