Literature DB >> 1618021

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

B A Oostra1, A J Verkerk.   

Abstract

Fragile X syndrome, associated with the fragile X chromosome, is the most common cause of familial mental retardation. A breakthrough has been made in molecular biological research into the fragile X site. In this review we describe the molecular investigations that have led to the isolation of the FMR-1 gene. The nature of the fragile X mutation as well as the implications of the DNA test for the mutation are discussed.

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Year:  1992        PMID： 1618021     DOI： 10.1007/bf00582832

Source DB:  PubMed          Journal:  Chromosoma        ISSN： 0009-5915            Impact factor:   4.316


  45 in total

1.  Limited size of the fragile X site shown by fluorescence in situ hybridization.

Authors:  A J Verkerk; B H Eussen; J O Van Hemel; B A Oostra
Journal:  Am J Med Genet       Date:  1992 Apr 15-May 1

2.  Four chromosomal breakpoints and four new probes mark out a 10-cM region encompassing the fragile-X locus (FRAXA).

Authors:  F Rousseau; A Vincent; S Rivella; D Heitz; C Triboli; E Maestrini; S T Warren; G K Suthers; P Goodfellow; J L Mandel
Journal:  Am J Hum Genet       Date:  1991-01       Impact factor: 11.025

3.  Microdissection of the fragile X region.

Authors:  R N MacKinnon; M C Hirst; M V Bell; J E Watson; U Claussen; H J Ludecke; G Senger; B Horsthemke; K E Davies
Journal:  Am J Hum Genet       Date:  1990-08       Impact factor: 11.025

4.  New polymorphic DNA marker close to the fragile site FRAXA.

Authors:  B A Oostra; P E Hupkes; L F Perdon; C A van Bennekom; E Bakker; D J Halley; M Schmidt; D Du Sart; A Smits; B Wieringa
Journal:  Genomics       Date:  1990-01       Impact factor: 5.736

5.  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

6.  A new DNA marker tightly linked to the fragile X locus (FRAXA).

Authors:  G K Suthers; D F Callen; V J Hyland; H M Kozman; E Baker; H Eyre; P S Harper; S H Roberts; M C Hors-Cayla; K E Davies
Journal:  Science       Date:  1989-12-08       Impact factor: 47.728

7.  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

8.  Linkage analysis of families with fragile-X mental retardation, using a novel RFLP marker (DXS 304).

Authors:  N Dahl; P Goonewardena; H Malmgren; K H Gustavson; G Holmgren; E Seemanova; G Annerén; A Flood; U Pettersson
Journal:  Am J Hum Genet       Date:  1989-08       Impact factor: 11.025

9.  Carrier detection and X-inactivation studies in the fragile X syndrome. Cytogenetic studies in 63 obligate and potential carriers of the fragile X.

Authors:  K B Nielsen; N Tommerup; H Poulsen; P Jacobsen; B Beck; M Mikkelsen
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132

10.  Effects of nucleotides on expression of the folate sensitive fragile sites.

Authors:  G R Sutherland; E Baker
Journal:  Am J Med Genet       Date:  1986 Jan-Feb
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  6 in total

1.  Conservation of functional domains involved in RNA binding and protein-protein interactions in human and Saccharomyces cerevisiae pre-mRNA splicing factor SF1.

Authors:  J C Rain; Z Rafi; Z Rhani; P Legrain; A Krämer
Journal:  RNA       Date:  1998-05       Impact factor: 4.942

2.  FRAXE testing.

Authors:  E Holinski-Feder; S Chahrokh-Zadeh; K B Jedele; A Meindl; P Steinbach; D Wöhrle
Journal:  Am J Hum Genet       Date:  1996-11       Impact factor: 11.025

3.  General overgrowth in the fragile X syndrome: variability in the phenotypic expression of the FMR1 gene mutation.

Authors:  B B de Vries; H Robinson; I Stolte-Dijkstra; C V Tjon Pian Gi; P F Dijkstra; J van Doorn; D J Halley; B A Oostra; G Turner; M F Niermeijer
Journal:  J Med Genet       Date:  1995-10       Impact factor: 6.318

4.  DNA testing for fragile X syndrome: implications for parents and family.

Authors:  M A van Rijn; B B de Vries; A Tibben; A M van den Ouweland; D J Halley; M F Niermeijer
Journal:  J Med Genet       Date:  1997-11       Impact factor: 6.318

5.  Clinical and molecular studies in fragile X patients with a Prader-Willi-like phenotype.

Authors:  B B de Vries; J P Fryns; M G Butler; F Canziani; E Wesby-van Swaay; J O van Hemel; B A Oostra; D J Halley; M F Niermeijer
Journal:  J Med Genet       Date:  1993-09       Impact factor: 6.318

Review 6.  Advancing genomic technologies and clinical awareness accelerates discovery of disease-associated tandem repeat sequences.

Authors:  Terence Gall-Duncan; Nozomu Sato; Ryan K C Yuen; Christopher E Pearson
Journal:  Genome Res       Date:  2021-12-29       Impact factor: 9.438
  6 in total

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