Literature DB >> 8900249

FRAXE testing.

E Holinski-Feder, S Chahrokh-Zadeh, K B Jedele, A Meindl, P Steinbach, D Wöhrle.   

Abstract

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Year:  1996        PMID： 8900249      PMCID： PMC1914838     

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


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  4 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.  The FRAXE Syndrome: is it time for routine screening?

Authors:  W T Brown
Journal:  Am J Hum Genet       Date:  1996-05       Impact factor: 11.025

Review 3.  The fragile X syndrome: isolation of the FMR-1 gene and characterization of the fragile X mutation.

Authors:  B A Oostra; A J Verkerk
Journal:  Chromosoma       Date:  1992-04       Impact factor: 4.316

4.  Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation.

Authors:  S J Knight; A V Flannery; M C Hirst; L Campbell; Z Christodoulou; S R Phelps; J Pointon; H R Middleton-Price; A Barnicoat; M E Pembrey
Journal:  Cell       Date:  1993-07-16       Impact factor: 41.582
  4 in total
  3 in total

1.  FRAXA and FRAXE: the results of a five year survey.

Authors:  S A Youings; A Murray; N Dennis; S Ennis; C Lewis; N McKechnie; M Pound; A Sharrock; P Jacobs
Journal:  J Med Genet       Date:  2000-06       Impact factor: 6.318

2.  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

3.  Development and validation in 500 female samples of a TP-PCR assay to identify AFF2 GCC expansions.

Authors:  Cecília Silva; Nuno Maia; Flávia Santos; Bárbara Rodrigues; Isabel Marques; Rosário Santos; Paula Jorge
Journal:  Sci Rep       Date:  2021-07-19       Impact factor: 4.379
  3 in total

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