Literature DB >> 6928413

Expression in fibroblast culture of the satellited-X chromosome associated with familial sex-linked mental retardation.

P B Jacky, F J Dill.   

Abstract

The satellited-X chromosome previously shown in lymphocyte culture to be associated with certain types of sex-linked mental retardation has, for the first time, been demonstrated in cultured skin fibroblasts and lymphocytes from two affected males and an obligate carrier female. These findings provide a basis for reliable diagnosis of female carriers and for the development of prenatal diagnosis.

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Year:  1980        PMID: 6928413     DOI: 10.1007/bf00273509

Source DB:  PubMed          Journal:  Hum Genet        ISSN: 0340-6717            Impact factor:   4.132


  9 in total

1.  Effect of 5-bromodeoxyuridine on mamalian chromosomes.

Authors:  T C HSU; C E SOMERS
Journal:  Proc Natl Acad Sci U S A       Date:  1961-03-15       Impact factor: 11.205

2.  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

3.  Heritable fragile sites on human chromosomes I. Factors affecting expression in lymphocyte culture.

Authors:  G R Sutherland
Journal:  Am J Hum Genet       Date:  1979-03       Impact factor: 11.025

4.  Heritable fragile sites on human chromosomes II. Distribution, phenotypic effects, and cytogenetics.

Authors:  G R Sutherland
Journal:  Am J Hum Genet       Date:  1979-03       Impact factor: 11.025

5.  Banding analysis of abnormal karyotypes in spontaneous abortion.

Authors:  T Kajii; K Oama; N Niikawa; A Ferrier; S Avirachan
Journal:  Am J Hum Genet       Date:  1973-09       Impact factor: 11.025

6.  Non-condensation of one segment of a chromosome No. 2 in a male with an otherwise normal karyotype (and severe hypospadias).

Authors:  E M Bühler; U Luchsinger; U K Bühler; K Méhes; G R Stalder
Journal:  Humangenetik       Date:  1970

7.  A marker X chromosome.

Authors:  H A Lubs
Journal:  Am J Hum Genet       Date:  1969-05       Impact factor: 11.025

8.  Marker X chromosomes, mental retardation and macro-orchidism.

Authors:  G Turner; R Till; A Daniel
Journal:  N Engl J Med       Date:  1978-12-28       Impact factor: 91.245

9.  Familial X-linked mental retardation with an X chromosome abnormality.

Authors:  J Harvey; C Judge; S Wiener
Journal:  J Med Genet       Date:  1977-02       Impact factor: 6.318

  9 in total
  22 in total

1.  A comparison of fragile X expression in lymphocyte and lymphoblastoid cultures.

Authors:  M A Abruzzo; P A Hunt; M Mayer; P A Jacobs; J C Wang; R W Erbe
Journal:  Am J Hum Genet       Date:  1986-04       Impact factor: 11.025

2.  Inducing fragile sites to express themselves.

Authors:  F Hecht; B Kaiser-McCaw
Journal:  Am J Hum Genet       Date:  1980-07       Impact factor: 11.025

Review 3.  Nonspecific X-linked mental retardation--a review.

Authors:  G Tariverdian; B Weck
Journal:  Hum Genet       Date:  1982       Impact factor: 4.132

4.  5-Fluoro-2'-deoxyuridine induction of the fragile site on Xq28 associated with X linked mental retardation.

Authors:  N Tommerup; H Poulsen; K Brøndum-Nielsen
Journal:  J Med Genet       Date:  1981-10       Impact factor: 6.318

Review 5.  The fragile X syndrome: the patients and their chromosomes.

Authors:  M A De Arce; A Kearns
Journal:  J Med Genet       Date:  1984-04       Impact factor: 6.318

6.  Cytogenetic investigations in mentally retarded and normal males from 14 families with the fragile site at Xq28. Results of folic acid treatment on fra(X) expression.

Authors:  K B Nielsen; N Tommerup
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

7.  Intracellular folate distribution in cultured fibroblasts from patients with the fragile X syndrome.

Authors:  B W Popovich; D S Rosenblatt; B A Cooper; M Vekemans
Journal:  Am J Hum Genet       Date:  1983-09       Impact factor: 11.025

8.  Fragile X chromosome: clinical and cytogenetic studies on cases from seven families.

Authors:  A McDermott; R Walters; R T Howell; A Gardner
Journal:  J Med Genet       Date:  1983-06       Impact factor: 6.318

9.  X-linked mental retardation with the fragile X. A study of 15 families.

Authors:  J F Mattei; M G Mattei; C Aumeras; M Auger; F Giraud
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

10.  Monoamine oxidase (MAO) activity as a determinant in human neurophysiology.

Authors:  J E Pintar; X O Breakefield
Journal:  Behav Genet       Date:  1982-02       Impact factor: 2.805

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