Literature DB >> 20648055

Clinical utility gene card for: Lesch-Nyhan syndrome.

Rosa J Torres1, Juan G Puig, Irène Ceballos-Picot.   

Abstract

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Year:  2010        PMID： 20648055      PMCID： PMC3039492          DOI： 10.1038/ejhg.2010.109

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


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  24 in total

1.  A FAMILIAL DISORDER OF URIC ACID METABOLISM AND CENTRAL NERVOUS SYSTEM FUNCTION.

Authors:  M LESCH; W L NYHAN
Journal:  Am J Med       Date:  1964-04       Impact factor: 4.965

2.  Molecular, biochemical, and genetic characterization of a female patient with Lesch-Nyhan disease.

Authors:  Choni Rinat; Esther Zoref-Shani; Ziva Ben-Neriah; Yael Bromberg; Rachel Becker-Cohen; Sofia Feinstein; Oded Sperling; Yaacov Frishberg
Journal:  Mol Genet Metab       Date:  2005-12-15       Impact factor: 4.797

3.  Automated DNA sequencing of the human HPRT locus.

Authors:  A Edwards; H Voss; P Rice; A Civitello; J Stegemann; C Schwager; J Zimmermann; H Erfle; C T Caskey; W Ansorge
Journal:  Genomics       Date:  1990-04       Impact factor: 5.736

4.  Normal HPRT coding region in a male with gout due to HPRT deficiency.

Authors:  Paul A Dawson; Ross B Gordon; Dianne T Keough; Bryan T Emmerson
Journal:  Mol Genet Metab       Date:  2005-02-16       Impact factor: 4.797

5.  Lesch-Nyhan disease in a female with a clinically normal monozygotic twin.

Authors:  Laura De Gregorio; H A Jinnah; James C Harris; William L Nyhan; David J Schretlen; Lucy M Trombley; J Patrick O'Neill
Journal:  Mol Genet Metab       Date:  2005-02-17       Impact factor: 4.797

6.  Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in ten subjects determined by direct sequencing of amplified transcripts.

Authors:  B L Davidson; S A Tarlé; T D Palella; W N Kelley
Journal:  J Clin Invest       Date:  1989-07       Impact factor: 14.808

7.  Novel nonsense mutation in the hypoxanthine guanine phosphoribosyltransferase gene and nonrandom X-inactivation causing Lesch-Nyhan syndrome in a female patient.

Authors:  B Aral; G de Saint Basile; S Al-Garawi; P Kamoun; I Ceballos-Picot
Journal:  Hum Mutat       Date:  1996       Impact factor: 4.878

8.  Multiplex DNA deletion detection and exon sequencing of the hypoxanthine phosphoribosyltransferase gene in Lesch-Nyhan families.

Authors:  R A Gibbs; P N Nguyen; A Edwards; A B Civitello; C T Caskey
Journal:  Genomics       Date:  1990-06       Impact factor: 5.736

9.  A molecular survey of hypoxanthine-guanine phosphoribosyltransferase deficiency in man.

Authors:  J M Wilson; J T Stout; T D Palella; B L Davidson; W N Kelley; C T Caskey
Journal:  J Clin Invest       Date:  1986-01       Impact factor: 14.808

Review 10.  Delineation of the motor disorder of Lesch-Nyhan disease.

Authors:  H A Jinnah; Jasper E Visser; James C Harris; Alfonso Verdu; Laura Larovere; Irene Ceballos-Picot; Pedro Gonzalez-Alegre; Vladimir Neychev; Rosa J Torres; Olivier Dulac; Isabelle Desguerre; David J Schretlen; Kenneth L Robey; Gabor Barabas; Bastiaan R Bloem; William Nyhan; Raquel De Kremer; Gary E Eddey; Juan G Puig; Stephen G Reich
Journal:  Brain       Date:  2006-03-20       Impact factor: 13.501
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  1 in total

1.  Adenosine, dopamine and serotonin receptors imbalance in lymphocytes of Lesch-Nyhan patients.

Authors:  Marta G García; Juan G Puig; Rosa J Torres
Journal:  J Inherit Metab Dis       Date:  2012-03-09       Impact factor: 4.982
  1 in total

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