Literature DB >> 4842648

Mosaicism of peripheral blood lymphocyte populations in females heterozygous for the Lesch-Nyhan mutation.

R J Albertini, R DeMars.   

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Year:  1974        PMID: 4842648     DOI: 10.1007/bf00486413

Source DB:  PubMed          Journal:  Biochem Genet        ISSN: 0006-2928            Impact factor:   1.890


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  33 in total

1.  SEPARATION OF LYMPHOCYTES, POLYMORPHONUCLEAR LEUKOCYTES AND MONOCYTES ON GLASS COLUMNS, INCLUDING TISSUE CULTURE OBSERVATIONS.

Authors:  Y RABINOWITZ
Journal:  Blood       Date:  1964-06       Impact factor: 22.113

2.  An improved nutrient solution for diploid Chinese hamster and human cell lines.

Authors:  R G HAM
Journal:  Exp Cell Res       Date:  1963-02       Impact factor: 3.905

3.  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

4.  Somatic cell mutation. Detection and quantification of x-ray-induced mutation in cultured, diploid human fibroblasts.

Authors:  R J Albertini; R DeMars
Journal:  Mutat Res       Date:  1973-05       Impact factor: 2.433

5.  The spontaneous azaguanine-resistant mutants of diploid human fibroblasts.

Authors:  R DeMars; K R Held
Journal:  Humangenetik       Date:  1972

6.  Isoenzymes of hypoxanthine-guanine-phosphoribosyl transferase in a family with partial deficiency of the enzyme.

Authors:  B Bakay; W L Nyhan; N Fawcett; M D Kogut
Journal:  Biochem Genet       Date:  1972-08       Impact factor: 1.890

7.  An enzymatic basis for variation in response to allopurinol. Hypoxanthine-guanine phosphoribosyltransferase deficiency.

Authors:  W N Kelley; F M Rosenbloom; J Miller; J E Seegmiller
Journal:  N Engl J Med       Date:  1968-02-08       Impact factor: 91.245

8.  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

9.  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

10.  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

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  19 in total

1.  Inheritance of erythrocyte glucose 6-phosphate dehydrogenase in the red-necked wallaby, Macropus rufogriseus (Desmarest), consistent with paternal X inactivation.

Authors:  P G Johnston; J L VandeBerg; G B Sharman
Journal:  Biochem Genet       Date:  1975-04       Impact factor: 1.890

2.  Gender-specific frequency of background somatic mutations at the hypoxanthine phosphoribosyltransferase locus in cord blood T lymphocytes from preterm newborns.

Authors:  M Yoshioka; P M Vacek; T Poseno; R Silver; B A Finette
Journal:  Proc Natl Acad Sci U S A       Date:  1999-01-19       Impact factor: 11.205

3.  Variability of red cell phenotypes between and within individuals in an unbiased sample of 77 heterozygotes for G6PD deficiency in Sardinia.

Authors:  A Rinaldi; G Filippi; M Siniscalco
Journal:  Am J Hum Genet       Date:  1976-09       Impact factor: 11.025

4.  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

5.  Selection against lethal alleles in females heterozygous for incontinentia pigmenti.

Authors:  B R Migeon; J Axelman; S Jan de Beur; D Valle; G A Mitchell; K N Rosenbaum
Journal:  Am J Hum Genet       Date:  1989-01       Impact factor: 11.025

6.  Do twin Lyons have larger spots?

Authors:  W E Nance
Journal:  Am J Hum Genet       Date:  1990-04       Impact factor: 11.025

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.  Skewed X inactivation in Lesch-Nyhan disease carrier females.

Authors:  Rosa J Torres; Juan G Puig
Journal:  J Hum Genet       Date:  2017-09-14       Impact factor: 3.172

9.  Fabry's disease: heterozygote detection by hair root analysis.

Authors:  T Grimm; T F Wienker; H H Ropers
Journal:  Hum Genet       Date:  1976-06-29       Impact factor: 4.132

10.  A cell surface abnormality in Duchenne muscular dystrophy: intercellular adhesiveness of skin fibroblasts from patients and carriers.

Authors:  G E Jones; J A Witkowski
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132

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