Literature DB >> 8445629

Identification of the FRAXE fragile site in two families ascertained for X linked mental retardation.

G A Flynn1, M C Hirst, S J Knight, J N Macpherson, J C Barber, A V Flannery, K E Davies, V J Buckle.   

Abstract

Chromosome fragility in two families not exhibiting amplification of the CGG trinucleotide associated with the fragile X site has been examined. Fluorescence in situ hybridisation with cosmid DNA from loci immediately flanking FRAXA and other distal loci have confirmed that cytogenetic fragility in these subjects is the result of expression of a new folate sensitive fragile X site, FRAXE.

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Year:  1993        PMID： 8445629      PMCID： PMC1016261          DOI： 10.1136/jmg.30.2.97

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  26 in total

1.  A YAC contig across the fragile X site defines the region of fragility.

Authors:  M C Hirst; K Rack; Y Nakahori; A Roche; M V Bell; G Flynn; Z Christadoulou; R N MacKinnon; M Francis; A J Littler
Journal:  Nucleic Acids Res       Date:  1991-06-25       Impact factor: 16.971

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

Authors:  E J Kremer; M Pritchard; M Lynch; S Yu; K Holman; E Baker; S T Warren; D Schlessinger; G R Sutherland; R I Richards
Journal:  Science       Date:  1991-06-21       Impact factor: 47.728

3.  Localisation of the MRX3 gene for non-specific X linked mental retardation.

Authors:  A Gedeon; B Kerr; J Mulley; G Turner
Journal:  J Med Genet       Date:  1991-06       Impact factor: 6.318

4.  Dissociation between mental retardation and fragile site expression in a family with fragile X-linked mental retardation.

Authors:  M A Voelckel; M G Mattei; C N'Guyen; N Philip; F Birg; J F Mattei
Journal:  Hum Genet       Date:  1988-12       Impact factor: 4.132

5.  Study of a family with a fragile site of the X chromosome at Xq27-28 without mental retardation.

Authors:  M A Voelckel; N Philip; C Piquet; M C Pellissier; I Oberlé; F Birg; M G Mattei; J F Mattei
Journal:  Hum Genet       Date:  1989-03       Impact factor: 4.132

6.  Genetic mapping of new DNA probes at Xq27 defines a strategy for DNA studies in the fragile X syndrome.

Authors:  G K Suthers; J C Mulley; M A Voelckel; N Dahl; M L Väisänen; P Steinbach; I A Glass; C E Schwartz; B A van Oost; S N Thibodeau
Journal:  Am J Hum Genet       Date:  1991-03       Impact factor: 11.025

7.  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

8.  Molecular heterogeneity of the fragile X syndrome.

Authors:  Y Nakahori; S J Knight; J Holland; C Schwartz; A Roche; J Tarleton; S Wong; T J Flint; U Froster-Iskenius; D Bentley
Journal:  Nucleic Acids Res       Date:  1991-08-25       Impact factor: 16.971

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

Authors:  M Pieretti; F P Zhang; Y H Fu; S T Warren; B A Oostra; C T Caskey; D L Nelson
Journal:  Cell       Date:  1991-08-23       Impact factor: 41.582

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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  19 in total

1.  A study of FRAXE in mentally retarded individuals referred for fragile X syndrome (FRAXA) testing in the United Kingdom.

Authors:  S J Knight; R J Ritchie; L Chakrabarti; G Cross; G R Taylor; R F Mueller; J Hurst; J Paterson; J R Yates; D J Dow; K E Davies
Journal:  Am J Hum Genet       Date:  1996-05       Impact factor: 11.025

2.  FRAXE expansion is not a common etiological factor among developmentally delayed males.

Authors:  D J Allingham-Hawkins; P N Ray
Journal:  Am J Hum Genet       Date:  1995-07       Impact factor: 11.025

3.  Fragile X syndrome is less common than previously estimated.

Authors:  J E Morton; S Bundey; T P Webb; F MacDonald; P M Rindl; S Bullock
Journal:  J Med Genet       Date:  1997-01       Impact factor: 6.318

4.  Clinical, cytogenetic, and molecular analysis of three families with FRAXE.

Authors:  A J Barnicoat; Q Wang; J Turk; E Green; C G Mathew; G Flynn; V Buckle; M Hirst; K Davies; M Bobrow
Journal:  J Med Genet       Date:  1997-01       Impact factor: 6.318

5.  Fragile X syndrome.

Authors:  J Turk
Journal:  Arch Dis Child       Date:  1995-01       Impact factor: 3.791

6.  FRAXF in a patient with chromosome 8 duplication.

Authors:  A M Vianna-Morgante; R C Mingroni-Netto; A C Barbosa; P A Otto; C Rosenberg
Journal:  J Med Genet       Date:  1996-07       Impact factor: 6.318

7.  A rapid screening and diagnosis on fragile X syndrome by PCR.

Authors:  J Chen; A Yang; H Fei; R Jin; M He; B Wang
Journal:  J Tongji Med Univ       Date:  1999

8.  Prevalence and phenotype consequence of FRAXA and FRAXE alleles in a large, ethnically diverse, special education-needs population.

Authors:  D C Crawford; K L Meadows; J L Newman; L F Taft; D L Pettay; L B Gold; S J Hersey; E F Hinkle; M L Stanfield; P Holmgreen; M Yeargin-Allsopp; C Boyle; S L Sherman
Journal:  Am J Hum Genet       Date:  1999-02       Impact factor: 11.025

9.  DNA testing for fragile X syndrome in schools for learning difficulties.

Authors:  S F Slaney; A O Wilkie; M C Hirst; R Charlton; M McKinley; J Pointon; Z Christodoulou; S M Huson; K E Davies
Journal:  Arch Dis Child       Date:  1995-01       Impact factor: 3.791

10.  Autism spectrum disorder: FRAXE mutation, a rare etiology.

Authors:  F Correia; C Café; J Almeida; S Mouga; G Oliveira
Journal:  J Autism Dev Disord       Date:  2015-03
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