Literature DB >> 3014211

Family studies of the Lesch-Nyhan syndrome: the use of a restriction fragment length polymorphism (RFLP) closely linked to the disease gene for carrier state and prenatal diagnosis.

D A Gibbs, C M Headhouse-Benson, R W Watts.   

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Year:  1986        PMID： 3014211     DOI： 10.1007/bf01813902

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  11 in total

1.  Detection of specific sequences among DNA fragments separated by gel electrophoresis.

Authors:  E M Southern
Journal:  J Mol Biol       Date:  1975-11-05       Impact factor: 5.469

2.  Studies on human erythrocyte IMP: pyrophosphate phosphoribosyltransferase.

Authors:  J A Craft; B M Dean; R W Watts; W J Westwick
Journal:  Eur J Biochem       Date:  1970-08

3.  First-trimester diagnosis of Lesch-Nyhan syndrome.

Authors:  D A Gibbs; I R McFadyen; M D Crawfurd; E E De Muinck Keizer; C M Headhouse-Benson; T M Wilson; P H Farrant
Journal:  Lancet       Date:  1984-11-24       Impact factor: 79.321

4.  The diagnosis of the carrier state for the Lesch--Nyhan syndrome.

Authors:  R O McKeran; T M Andrews; A Howell; D A Gibbs; S Chinn; W E Watts
Journal:  Q J Med       Date:  1975-04

5.  Molecular evidence for new mutation at the hprt locus in Lesch-Nyhan patients.

Authors:  T P Yang; P I Patel; A C Chinault; J T Stout; L G Jackson; B M Hildebrand; C T Caskey
Journal:  Nature       Date:  1984 Aug 2-8       Impact factor: 49.962

6.  Hypoxanthine-guanine phosphoribosyltransferase variants: correlation of clinical phenotype with enzyme activity.

Authors:  T Page; B Bakay; E Nissinen; W L Nyhan
Journal:  J Inherit Metab Dis       Date:  1981       Impact factor: 4.982

7.  Localization of loci for hypoxanthine phosphoribosyltransferase and glucose-6-phosphate dehydrogenase and biochemical evidence of nonrandom X chromosome expression from studies of a human X-autosome translocation.

Authors:  G S Pai; J A Sprenkle; T T Do; C E Mareni; B R Migeon
Journal:  Proc Natl Acad Sci U S A       Date:  1980-05       Impact factor: 11.205

8.  A three-allele restriction-fragment-length polymorphism at the hypoxanthine phosphoribosyltransferase locus in man.

Authors:  R L Nussbaum; W E Crowder; W L Nyhan; C T Caskey
Journal:  Proc Natl Acad Sci U S A       Date:  1983-07       Impact factor: 11.205

9.  Isolation and characterization of a full-length expressible cDNA for human hypoxanthine phosphoribosyl transferase.

Authors:  D J Jolly; H Okayama; P Berg; A C Esty; D Filpula; P Bohlen; G G Johnson; J E Shively; T Hunkapillar; T Friedmann
Journal:  Proc Natl Acad Sci U S A       Date:  1983-01       Impact factor: 11.205

10.  Rapid prenatal diagnosis of the Lesch-Nyhan syndrome.

Authors:  D Halley; M J Heukels-Dully
Journal:  J Med Genet       Date:  1977-04       Impact factor: 6.318
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  7 in total

1.  Real-time PCR and linkage studies to identify carriers presenting HPRT deleted gene.

Authors:  Cristina Lapucci; Diego Pomarè Montin; Massimo Pandolfo; Matteo Bertelli
Journal:  Mol Med       Date:  2006 Sep-Oct       Impact factor: 6.354

2.  Lesch-Nyhan syndrome: molecular investigation of three French Canadian families using a hypoxanthine-guanine phosphoribosyltransferase cDNA probe.

Authors:  D Sinnett; L Lavergne; S B Melançon; L Dallaire; M Potier; D Labuda
Journal:  Hum Genet       Date:  1988-12       Impact factor: 4.132

Review 3.  Advances in the study of inherited metabolic disease.

Authors:  D A Gibbs
Journal:  J Inherit Metab Dis       Date:  1989       Impact factor: 4.982

Review 4.  Identification of 17 independent mutations responsible for human hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency.

Authors:  B L Davidson; S A Tarlé; M Van Antwerp; D A Gibbs; R W Watts; W N Kelley; T D Palella
Journal:  Am J Hum Genet       Date:  1991-05       Impact factor: 11.025

5.  Hypoxanthine-guanine phosphoribosyltransferase deficiency in three brothers with gout: characterization of a variant, HPRTEdinburgh, having altered isoelectric point, increased thermal lability and normal levels of messenger RNA.

Authors:  F F Snyder; J E Joyce; T Carter-Edwards; R Joshi; H L Rylance; R C Wallace; G Nuki
Journal:  J Inherit Metab Dis       Date:  1989       Impact factor: 4.982

Review 6.  Diagnosis of genetic disease using recombinant DNA. Supplement.

Authors:  D N Cooper; J Schmidtke
Journal:  Hum Genet       Date:  1987-09       Impact factor: 4.132

Review 7.  A review of the molecular basis of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency.

Authors:  D G Sculley; P A Dawson; B T Emmerson; R B Gordon
Journal:  Hum Genet       Date:  1992-11       Impact factor: 4.132
  7 in total

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