Literature DB >> 1336058

Direct analysis of the FMR-1 gene provides an explanation for an exceptional case of a fragile X negative, mentally retarded male in a fragile X family.

J Tarleton1, S Wong, C Schwartz.   

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Year:  1992        PMID： 1336058      PMCID： PMC1016214          DOI： 10.1136/jmg.29.12.919

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


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  7 in total

1.  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

2.  Selection in blood cells from female carriers of the fragile X syndrome: inverse correlation between age and proportion of active X chromosomes carrying the full mutation.

Authors:  F Rousseau; D Heitz; I Oberlé; J L Mandel
Journal:  J Med Genet       Date:  1991-12       Impact factor: 6.318

3.  The fragile X syndrome.

Authors:  P A Jacobs
Journal:  J Med Genet       Date:  1991-12       Impact factor: 6.318

4.  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

5.  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

6.  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

7.  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
  7 in total
  2 in total

1.  Molecular analysis and test of linkage between the FMR-1 gene and infantile autism in multiplex families.

Authors:  J Hallmayer; E Pintado; L Lotspeich; D Spiker; W McMahon; P B Petersen; P Nicholas; C Pingree; H C Kraemer; D L Wong
Journal:  Am J Hum Genet       Date:  1994-11       Impact factor: 11.025

2.  Clinical and molecular implications of mosaicism in FMR1 full mutations.

Authors:  Dalyir Pretto; Carolyn M Yrigollen; Hiu-Tung Tang; John Williamson; Glenda Espinal; Chris K Iwahashi; Blythe Durbin-Johnson; Randi J Hagerman; Paul J Hagerman; Flora Tassone
Journal:  Front Genet       Date:  2014-09-17       Impact factor: 4.599
  2 in total

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