Literature DB >> 8554061

Reverse mutation in fragile X syndrome.

G Antiñolo, S Borrego, J C Cabeza, R Sánchez, J Sánchez, B Sánchez.   

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Year:  1996        PMID： 8554061      PMCID： PMC1914937     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  16 in total

1.  Fragile-X syndrome: unique genetics of the heritable unstable element.

Authors:  S Yu; J Mulley; D Loesch; G Turner; A Donnelly; A Gedeon; D Hillen; E Kremer; M Lynch; M Pritchard
Journal:  Am J Hum Genet       Date:  1992-05       Impact factor: 11.025

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

Authors:  G R Sutherland
Journal:  Science       Date:  1977-07-15       Impact factor: 47.728

3.  Isolation of sequences that span the fragile X and identification of a fragile X-related CpG island.

Authors:  D Heitz; F Rousseau; D Devys; S Saccone; H Abderrahim; D Le Paslier; D Cohen; A Vincent; D Toniolo; G Della Valle
Journal:  Science       Date:  1991-03-08       Impact factor: 47.728

4.  Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome.

Authors:  A J Verkerk; M Pieretti; J S Sutcliffe; Y H Fu; D P Kuhl; A Pizzuti; O Reiner; S Richards; M F Victoria; F P Zhang
Journal:  Cell       Date:  1991-05-31       Impact factor: 41.582

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

Authors:  A Vincent; D Heitz; C Petit; C Kretz; I Oberlé; J L Mandel
Journal:  Nature       Date:  1991-02-14       Impact factor: 49.962

6.  Analysis of full fragile X mutations in fetal tissues and monozygotic twins indicate that abnormal methylation and somatic heterogeneity are established early in development.

Authors:  D Devys; V Biancalana; F Rousseau; J Boué; J L Mandel; I Oberlé
Journal:  Am J Med Genet       Date:  1992 Apr 15-May 1

7.  On some technical aspects of direct DNA diagnosis of the fragile X syndrome.

Authors:  F Rousseau; D Heitz; V Biancalana; I Oberlé; J L Mandel
Journal:  Am J Med Genet       Date:  1992 Apr 15-May 1

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

Authors:  Y H Fu; D P Kuhl; A Pizzuti; M Pieretti; J S Sutcliffe; S Richards; A J Verkerk; J J Holden; R G Fenwick; S T Warren
Journal:  Cell       Date:  1991-12-20       Impact factor: 41.582

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

Authors:  F Rousseau; D Heitz; V Biancalana; S Blumenfeld; C Kretz; J Boué; N Tommerup; C Van Der Hagen; C DeLozier-Blanchet; M F Croquette
Journal:  N Engl J Med       Date:  1991-12-12       Impact factor: 91.245

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

Authors:  M V Bell; M C Hirst; Y Nakahori; R N MacKinnon; A Roche; T J Flint; P A Jacobs; N Tommerup; L Tranebjaerg; U Froster-Iskenius
Journal:  Cell       Date:  1991-02-22       Impact factor: 41.582
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  2 in total

1.  Prenatal diagnosis of the fragile X syndrome: loss of mutation owing to a double recombinant or gene conversion event at the FMR1 locus.

Authors:  M Losekoot; E Hoogendoorn; R Olmer; C C Jansen; J C Oosterwijk; A M van den Ouweland; D J Halley; S T Warren; R Willemsen; B A Oostra; E Bakker
Journal:  J Med Genet       Date:  1997-11       Impact factor: 6.318

2.  The effect of parental gender on the GAA dynamic mutation in the FRDA gene.

Authors:  L Pianese; F Cavalcanti; G De Michele; A Filla; G Campanella; O Calabrese; I Castaldo; A Monticelli; S Cocozza
Journal:  Am J Hum Genet       Date:  1997-02       Impact factor: 11.025
  2 in total

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