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11 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. Sex chromatin and gene action in the mammalian X-chromosome.

Authors: M F LYON
Journal: Am J Hum Genet Date: 1962-06 Impact factor: 11.025

3. Biochemical diagnosis of an X-linked disease in utero.

Authors: W Y Fujimoto; J E Seegmiller; B W Uhlendorf; C B Jacobson
Journal: Lancet Date: 1968-08-31 Impact factor: 79.321

Review 4. Hypoxanthine-guanine phosphoribosyltransferase deficiency in gout.

Authors: W N Kelley; M L Greene; F M Rosenbloom; J F Henderson; J E Seegmiller
Journal: Ann Intern Med Date: 1969-01 Impact factor: 25.391

5. Absence of mosaicism in the lymphocyte in X-linked congenital hyperuricosuria.

Authors: J Dancis; P H Berman; V Jansen; M E Balis
Journal: Life Sci Date: 1968-06-15 Impact factor: 5.037

6. Exchange between hamster cells in culture.

Authors: R R Bürk; J D Pitts; J H Subak-Sharpe
Journal: Exp Cell Res Date: 1968-10 Impact factor: 3.905

7. Single-allele expression at an X-linked hyperuricemia locus in heterozygous human cells.

Authors: J Salzmann; R DeMars; P Benke
Journal: Proc Natl Acad Sci U S A Date: 1968-06 Impact factor: 11.205

8. X-linked hypoxanthine-guanine phosphoribosyl transferase deficiency: heterozygote has two clonal populations.

Authors: B R Migeon; V M Der Kaloustian; W L Nyhan; W J Yough; B Childs
Journal: Science Date: 1968-04-26 Impact factor: 47.728

9. 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

10. Gene action in the X-chromosome of the mouse (Mus musculus L.).

Authors: M F LYON
Journal: Nature Date: 1961-04-22 Impact factor: 49.962

17 in total

1. 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

2. Rapid prenatal diagnosis of HG-PRT deficiency using ultra-microchemical methods.

Authors: P Hösli; C H de Bruyn; F J Oerlemans; M Verjaal; R E Nobrega
Journal: Hum Genet Date: 1977-06-30 Impact factor: 4.132

Review 3. Review and hypotheses: somatic mosaicism: observations related to clinical genetics.

Authors: J G Hall
Journal: Am J Hum Genet Date: 1988-10 Impact factor: 11.025

4. Lesch-Nyhan syndrome: absence of the mutant enzyme in erythrocytes of a heterozygote for both normal and mutant hypoxanthine-guanine phosphoribosyl transferase.

Authors: J A McDonald; W N Kelley
Journal: Biochem Genet Date: 1972-02 Impact factor: 1.890

5. 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

9. Disparate enzyme activity in erythocytes and leukocytes. A variant of hypoxanthine phosphoribosyl-transferase deficiency with an unstable enzyme.

Authors: J Dancis; L C Yip; R P Cox; S Piomelli; M E Balis
Journal: J Clin Invest Date: 1973-08 Impact factor: 14.808

10. Fragile X syndrome: search for phenotypic manifestations at loci for hypoxanthine phosphoribosyltransferase and glucose-6-phosphate dehydrogenase.

Authors: C Mareni; B R Migeon
Journal: Am J Hum Genet Date: 1981-09 Impact factor: 11.025

X-linked hypoxanthine-guanine phosphoribosyl transferase deficiency: detection of heterozygotes by selective medium.