Literature DB >> 7943024

DNA diagnosis of the fragile X syndrome in a series of 236 mentally retarded subjects and evidence for a reversal of mutation in the FMR-1 gene.

A M van den Ouweland1, B B de Vries, P L Bakker, W H Deelen, E de Graaff, J O van Hemel, B A Oostra, M F Niermeijer, D J Halley.   

Abstract

The cloning of the FMR-1 gene and the identification of an expanded CGG repeat in DNA of fragile X patients has made reliable DNA diagnosis feasible. Southern blotting and PCR assays of the CGG repeat in an unselected series of 236 mentally retarded subjects resulted in the identification of 10 new fragile X families. Reevaluation of previously assessed fragile X families resulted in the first observation of the presence of a reversal of mutation in the FMR-1 gene.

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Year:  1994        PMID： 7943024     DOI： 10.1002/ajmg.1320510437

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  14 in total

1.  Screening and diagnosis for the fragile X syndrome among the mentally retarded: an epidemiological and psychological survey. Collaborative Fragile X Study Group.

Authors:  B B de Vries; A M van den Ouweland; S Mohkamsing; H J Duivenvoorden; E Mol; K Gelsema; M van Rijn; D J Halley; L A Sandkuijl; B A Oostra; A Tibben; M F Niermeijer
Journal:  Am J Hum Genet       Date:  1997-09       Impact factor: 11.025

2.  Molecular evidence that fragile X syndrome occurs in the South African black population.

Authors:  A Goldman; T Jenkins; A Krause
Journal:  J Med Genet       Date:  1998-10       Impact factor: 6.318

Review 3.  Fragile X syndrome: the FMR1 CGG repeat distribution among world populations.

Authors:  Emmanuel Peprah
Journal:  Ann Hum Genet       Date:  2011-12-21       Impact factor: 1.670

4.  Fragile X mosaic male full mutation/normal allele detected by PCR/MS-MLPA.

Authors:  Tihomir Todorov; Albena Todorova; Andrey Kirov; Boyan Dimitrov; Ralph Carvalho; Anders O H Nygren; Iliana Boneva; Vanyo Mitev
Journal:  BMJ Case Rep       Date:  2009-05-18

5.  A PCR-based test suitable for screening for fragile X syndrome among mentally retarded males.

Authors:  L A Haddad; R C Mingroni-Netto; A M Vianna-Morgante; S D Pena
Journal:  Hum Genet       Date:  1996-06       Impact factor: 4.132

6.  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

Review 7.  Mosaic FMR1 deletion causes fragile X syndrome and can lead to molecular misdiagnosis: a case report and review of the literature.

Authors:  Bradford Coffee; Morna Ikeda; Dejan B Budimirovic; Lawrence N Hjelm; Walter E Kaufmann; Stephen T Warren
Journal:  Am J Med Genet A       Date:  2008-05-15       Impact factor: 2.802

8.  Instability of the CGG repeat and expression of the FMR1 protein in a male fragile X patient with a lung tumor.

Authors:  E de Graaff; R Willemsen; N Zhong; C E de Die-Smulders; W T Brown; G Freling; B Oostra
Journal:  Am J Hum Genet       Date:  1995-09       Impact factor: 11.025

9.  Mosaicism for the fragile X syndrome full mutation and deletions within the CGG repeat of the FMR1 gene.

Authors:  M Milà; S Castellví-Bel; A Sánchez; C Lázaro; M Villa; X Estivill
Journal:  J Med Genet       Date:  1996-04       Impact factor: 6.318

Review 10.  The fragile X syndrome.

Authors:  B B de Vries; D J Halley; B A Oostra; M F Niermeijer
Journal:  J Med Genet       Date:  1998-07       Impact factor: 6.318
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