Literature DB >> 5049065

[Lesch-Nyhan syndrome. Heterozygote detection by biochemical selection of the mutant cells and autoradiography].

A M Hagemeijer, P Dodinval, J M Andrien.   

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Year:  1972        PMID： 5049065     DOI： 10.1007/bf00295739

Source DB:  PubMed          Journal:  Humangenetik        ISSN： 0018-7348


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  29 in total

1.  DEMONSTRATION OF TWO POPULATIONS OF CELLS IN THE HUMAN FEMALE HETEROZYGOUS FOR GLUCOSE-6-PHOSPHATE DEHYDROGENASE VARIANTS.

Authors:  R G DAVIDSON; H M NITOWSKY; B CHILDS
Journal:  Proc Natl Acad Sci U S A       Date:  1963-09       Impact factor: 11.205

2.  Studies of skin fibroblasts from 10 families with HGPRT deficiency, with reference in X-chromosomal inactivation.

Authors:  B R Migeon
Journal:  Am J Hum Genet       Date:  1971-03       Impact factor: 11.025

3.  Inosinate pyrophosphorylase activity in immature blood cells in X-linked congenital hyperuricosuria.

Authors:  J Dancis; V Jansen; P H Berman; M E Balis
Journal:  Biochem Genet       Date:  1969-08       Impact factor: 1.890

4.  Lesch-Nyhan syndrome: preventive control by prenatal diagnosis.

Authors:  J A Boyle; K O Raivio; K H Astrin; J D Schulman; M L Graf; J E Seegmiller; C B Jacobsen
Journal:  Science       Date:  1970-08-14       Impact factor: 47.728

5.  Inheritance of purine phosphoribosyltransferases in man.

Authors:  J F Henderson; W N Kelley; F M Rosenbloom; J E Seegmiller
Journal:  Am J Hum Genet       Date:  1969-01       Impact factor: 11.025

6.  A method for the prenatal diagnosis of congenital hyperuricemia.

Authors:  P H Berman; M E Balis; J Dancis
Journal:  J Pediatr       Date:  1969-09       Impact factor: 4.406

7.  X-linked recessive inheritance of a syndrome of mental retardation with hyperuricemia.

Authors:  S L Shapiro; G L Sheppard; F E Dreifuss; D S Newcombe
Journal:  Proc Soc Exp Biol Med       Date:  1966-06

8.  Lesch-Nyhan mutation: prenatal detection with amniotic fluid cells.

Authors:  R DeMars; G Sarto; J S Felix; P Benke
Journal:  Science       Date:  1969-06-13       Impact factor: 47.728

9.  Hypoxanthine-guanine phosphoribosyltransferase deficiency: activity in normal, mutant, and heterozygote-cultured human skin fibroblasts.

Authors:  W Y Fujimoto; J E Seegmiller
Journal:  Proc Natl Acad Sci U S A       Date:  1970-03       Impact factor: 11.205

10.  Hurler's syndrome: a genetic study of clones in cell culture with particular reference to the Lyon hypothesis.

Authors:  B S Danes; A G Bearn
Journal:  J Exp Med       Date:  1967-09-01       Impact factor: 14.307
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  2 in total

1.  The occurrence of new mutants in the X-linked recessive Lesch-Nyhan disease.

Authors:  U Francke; J Felsenstein; S M Gartler; B R Migeon; J Dancis; J E Seegmiller; F Bakay; W L Nyhan
Journal:  Am J Hum Genet       Date:  1976-03       Impact factor: 11.025

Review 2.  Hypoxanthine-guanine phosphoribosyl transferase deficiency.

Authors:  C H de Bruyn
Journal:  Hum Genet       Date:  1976-02-29       Impact factor: 4.132
  2 in total

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