Literature DB >> 4349227

Detection of heterozygous carriers of the Lesch-Nyhan syndrome by electrophoresis of hair root lysates.

U Francke, B Bakay, W L Nyhan.   

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Year:  1973        PMID: 4349227     DOI: 10.1016/s0022-3476(73)80123-4

Source DB:  PubMed          Journal:  J Pediatr        ISSN: 0022-3476            Impact factor:   4.406


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  20 in total

1.  Half chromatid mutations: transmission in humans?

Authors:  S M Gartler; U Francke
Journal:  Am J Hum Genet       Date:  1975-03       Impact factor: 11.025

2.  Hypoxanthine-guanine phosphoribosyltransferase: mosaicism in the peripheral erythrocytes of heterozygote for a normal and a mutant enzyme.

Authors:  I H Fox; P J Marchant; S LaCroix
Journal:  Biochem Genet       Date:  1976-08       Impact factor: 1.890

3.  2012 William Allan Award: Adventures in cytogenetics.

Authors:  Uta Francke
Journal:  Am J Hum Genet       Date:  2013-03-07       Impact factor: 11.025

4.  Linkage relationships of X-linked enzymes glucose-6-phosphate dehydrogenase and hypoxanthine guanine phosphoribosyltransferase: recombination in female offspring of compound heterozygotes.

Authors:  U Francke; B Bakay; J D Connor; J G Coldwell; W L Nyhan
Journal:  Am J Hum Genet       Date:  1974-07       Impact factor: 11.025

Review 5.  Human hair follicle cells in culture: the development of a new culture system and its potential applications.

Authors:  A J Vermorken; H Bloemendal
Journal:  Mol Biol Rep       Date:  1986       Impact factor: 2.316

6.  Effects of L-5-hydroxytryptophan on monoamine and amino acids turnover in the Lesch-Nyhan syndrome.

Authors:  S Castells; C Chakrabarti; B G Winsberg; M Hurwic; J M Perel; W L Nyhan
Journal:  J Autism Dev Disord       Date:  1979-03

7.  Molecular analyses of a Lesch-Nyhan syndrome mutation (hprtMontreal) by use of T-lymphocyte cultures.

Authors:  T R Skopek; L Recio; D Simpson; L Dallaire; S B Melancon; H Ogier; J P O'Neill; M T Falta; J A Nicklas; R J Albertini
Journal:  Hum Genet       Date:  1990-06       Impact factor: 4.132

8.  Purine metabolism in normal and thioguanine-resistant neuroblastoma.

Authors:  A W Wood; M A Becker; J D Minna; J E Seegmiller
Journal:  Proc Natl Acad Sci U S A       Date:  1973-12       Impact factor: 11.205

Review 9.  Hypoxanthine-guanine phosphoribosyl transferase deficiency.

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

10.  Selection against blood cells deficient in hypoxanthine phosphoribosyltransferase (HPRT) in Lesch-Nyhan heterozygotes occurs at the level of multipotent stem cells.

Authors:  M Hakoda; Y Hirai; M Akiyama; H Yamanaka; C Terai; N Kamatani; S Kashiwazaki
Journal:  Hum Genet       Date:  1995-12       Impact factor: 4.132

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