Literature DB >> 7942993

Molecular genetic screening in cytogenetically normal mentally retarded males with manifestations of fragile X syndrome.

M G Butler, R Pratesi, C L Vnencak-Jones.   

Abstract

Entities:  

Mesh：

Year:  1994        PMID： 7942993      PMCID： PMC5453795          DOI： 10.1002/ajmg.1320510406

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


× No keyword cloud information.
  9 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.  A microdeletion of less than 250 kb, including the proximal part of the FMR-I gene and the fragile-X site, in a male with the clinical phenotype of fragile-X syndrome.

Authors:  D Wöhrle; D Kotzot; M C Hirst; A Manca; B Korn; A Schmidt; G Barbi; H D Rott; A Poustka; K E Davies
Journal:  Am J Hum Genet       Date:  1992-08       Impact factor: 11.025

3.  Fragile X checklist.

Authors:  R J Hagerman; K Amiri; A Cronister
Journal:  Am J Med Genet       Date:  1991 Feb-Mar

4.  Anthropometric comparison of mentally retarded males with and without the fragile X syndrome.

Authors:  M G Butler; G A Allen; J L Haynes; D N Singh; M S Watson; W R Breg
Journal:  Am J Med Genet       Date:  1991 Feb-Mar

5.  A point mutation in the FMR-1 gene associated with fragile X mental retardation.

Authors:  K De Boulle; A J Verkerk; E Reyniers; L Vits; J Hendrickx; B Van Roy; F Van den Bos; E de Graaff; B A Oostra; P J Willems
Journal:  Nat Genet       Date:  1993-01       Impact factor: 38.330

6.  FMR1 protein: conserved RNP family domains and selective RNA binding.

Authors:  C T Ashley; K D Wilkinson; D Reines; S T Warren
Journal:  Science       Date:  1993-10-22       Impact factor: 47.728

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

8.  A 15-item checklist for screening mentally retarded males for the fragile X syndrome.

Authors:  M G Butler; T Mangrum; R Gupta; D N Singh
Journal:  Clin Genet       Date:  1991-05       Impact factor: 4.438

9.  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
  9 in total
  1 in total

1.  FREQUENCY AND DISTRIBUTION OF CHROMOSOME FRAGILE SITES OR LESIONS IN MALES WITH MENTAL RETARDATION: A DESCRIPTIVE STUDY.

Authors:  Merlin G Butler
Journal:  J Tenn Acad Sci       Date:  1998 Jul-Oct
  1 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.