(Q52032549)

20 April 2018

title

Molecular analysis of mutations in the gene FMR-1 segregating in fragile X families. (English)

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20 April 2018

author name string

P Steinbach

1

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20 April 2018

D Wöhrle

2

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20 April 2018

G Tariverdian

3

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20 April 2018

I Kennerknecht

4

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20 April 2018

G Barbi

5

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20 April 2018

H Edlinger

6

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20 April 2018

H Enders

7

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20 April 2018

M Götz-Sothmann

8

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20 April 2018

H Heilbronner

9

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20 April 2018

D Hosenfeld

10

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20 April 2018

publication date

1 November 1993

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20 April 2018

published in

Human Genetics

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20 April 2018

volume

92

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20 April 2018

issue

5

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20 April 2018

page(s)

491-498

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20 April 2018

https://scigraph.springernature.com/pub.10.1007/bf00216457

exact match

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cites work

Genotype prediction in the fragile X syndrome

1 reference

12 December 2020

Mental status and fragile X expression in relation to FMR-1 gene mutation.

1 reference

12 December 2020

Fragile X syndrome: a unique mutation in man.

1 reference

12 December 2020

Heritable unstable DNA sequences and hypermethylation associated with fragile X syndrome in Japanese families.

1 reference

12 December 2020

Two progenitor cells for human oogonia inferred from pedigree data and the X-inactivation imprinting model of the fragile-X syndrome

1 reference

12 December 2020

Fragile-X mutation proposed to block complete reactivation in females of an inactive X chromosome

1 reference

12 December 2020

Segregation of the fragile X mutation from an affected male to his normal daughter

1 reference

12 December 2020

Fragile sites on human chromosomes: demonstration of their dependence on the type of tissue culture medium

1 reference

12 December 2020

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

1 reference

12 December 2020

Possible erasure of the imprint on a fragile X chromosome when transmitted by a male

1 reference

12 December 2020

Recombination and amplification of pyrimidine-rich sequences may be responsible for initiation and progression of the Xq27 fragile site: an hypothesis

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

Physical mapping across the fragile X: hypermethylation and clinical expression of the fragile X syndrome

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12 December 2020

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

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12 December 2020

Prenatal diagnosis of fragile X syndrome by direct detection of the unstable DNA sequence

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12 December 2020

A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity

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12 December 2020

Further segregation analysis of the fragile X syndrome with special reference to transmitting males

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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

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

1 reference

12 December 2020

Estimating the stability of the proposed imprinted state of the fragile-X mutation when transmitted by females.

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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

Experience with direct molecular diagnosis of fragile X

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12 December 2020

Analysis of linkage relationships between genetic markers around the fragile X locus with special reference to the daughters of normal transmitting males

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12 December 2020

Fragile X expression and X inactivation. I. The expression of the fragile site at Xq27.3 is not suppressed on inactive X chromosomes separated from the active homologue

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12 December 2020

DNA methylation represses FMR-1 transcription in fragile X syndrome

1 reference

12 December 2020

A microdeletion of less than 250 kb, including the proximal part of the FMR-I gene and the fragile-X site, in a male with the clinical phenotype of fragile-X syndrome

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12 December 2020

Fragile X syndrome without CCG amplification has an FMR1 deletion

1 reference

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.

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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

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12 December 2020

Fragile X expression and X inactivation. II. The fragile site at Xq27.3 has a basic function in the pathogenesis of fragile X-linked mental retardation.

1 reference

12 December 2020

Detection of full fragile X mutation.

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12 December 2020

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

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12 December 2020

Guidelines for the preparation and analysis of the fragile X chromosome in lymphocytes.

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12 December 2020

A marker X chromosome

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12 December 2020

Genotype mosaicism in fragile X fetal tissues

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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

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12 December 2020

Molecular heterogeneity of the fragile X syndrome

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12 December 2020

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

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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/BF00216457

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20 April 2018

PubMed ID

7902319

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20 April 2018