Literature DB >> 5092480

Studies of skin fibroblasts from 10 families with HGPRT deficiency, with reference in X-chromosomal inactivation.

B R Migeon.   

Abstract

Entities:  

Mesh：

Substances：

Year:  1971        PMID： 5092480      PMCID： PMC1706686     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


× No keyword cloud information.
  18 in total

1.  DEMONSTRATION OF TWO POPULATIONS OF CELLS IN THE HUMAN FEMALE HETEROZYGOUS FOR GLUCOSE-6-PHOSPHATE DEHYDROGENASE VARIANTS.

Authors:  R G DAVIDSON; H M NITOWSKY; B CHILDS
Journal:  Proc Natl Acad Sci U S A       Date:  1963-09       Impact factor: 11.205

2.  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

3.  GENETIC TESTS WITH A SEX-LINKED MARKER: GLUCOSE-6-PHOSPHATE DEHYDROGENASE.

Authors:  W E NANCE
Journal:  Cold Spring Harb Symp Quant Biol       Date:  1964

4.  SELECTION IN MAMMALIAN MOSAIC CELL POPULATIONS.

Authors:  S M GARTLER; D LINDER
Journal:  Cold Spring Harb Symp Quant Biol       Date:  1964

5.  HEREDITARY CHOREOATHETOSIS, SELF-MUTILATION AND HYPERURICEMIA IN YOUNG MALES.

Authors:  D HOEFNAGEL; E D ANDREW; N G MIREAULT; W O BERNDT
Journal:  N Engl J Med       Date:  1965-07-15       Impact factor: 91.245

6.  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

7.  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

8.  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

9.  Diploid azaguanine-resistant mutants of cultured human fibroblasts.

Authors:  R J Albertini; R Demars
Journal:  Science       Date:  1970-07-31       Impact factor: 47.728

10.  Hurler's syndrome: a genetic study of clones in cell culture with particular reference to the Lyon hypothesis.

Authors:  B S Danes; A G Bearn
Journal:  J Exp Med       Date:  1967-09-01       Impact factor: 14.307
View more
  15 in total

1.  Evidence for the inactivation of an X chromosome early in the development of the human female.

Authors:  B R Migeon; J F Kennedy
Journal:  Am J Hum Genet       Date:  1975-03       Impact factor: 11.025

2.  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

Review 3.  Glycosphingolipid hydrolases: properties and molecular genetics.

Authors:  M Wan Ho; A G Norden; J A Alhadeff; J S O'Brien
Journal:  Mol Cell Biochem       Date:  1977-10-07       Impact factor: 3.396

4.  Expression of genes from the human active and inactive X chromosomes.

Authors:  C J Brown; L Carrel; H F Willard
Journal:  Am J Hum Genet       Date:  1997-06       Impact factor: 11.025

5.  Glycogen-storage disease associated with phosphorylase kinase deficiency: evidence for X inactivation.

Authors:  B R Migeon; F Huijing
Journal:  Am J Hum Genet       Date:  1974-05       Impact factor: 11.025

6.  [Lesch-Nyhan syndrome. Heterozygote detection by biochemical selection of the mutant cells and autoradiography].

Authors:  A M Hagemeijer; P Dodinval; J M Andrien
Journal:  Humangenetik       Date:  1972

7.  Expression of a mutant androgen receptor in cloned fibroblasts derived from a heterozygous carrier for the syndrome of testicular feminization.

Authors:  M K Elawady; D R Allman; J E Griffin; J D Wilson
Journal:  Am J Hum Genet       Date:  1983-05       Impact factor: 11.025

8.  Differential activation of the hprt gene on the inactive X chromosome in primary and transformed Chinese hamster cells.

Authors:  S G Grant; R G Worton
Journal:  Mol Cell Biol       Date:  1989-04       Impact factor: 4.272

9.  Mutation of E1 alpha gene in a female patient with pyruvate dehydrogenase deficiency due to rapid degradation of E1 protein.

Authors:  M Ito; A H Huq; E Naito; T Saijo; E Takeda; Y Kuroda
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

10.  Cell surface abnormality in clones of skin fibroblasts from a carrier of Duchenne muscular dystrophy.

Authors:  J Hillier; G E Jones; H E Statham; J A Witkowski; V Dubowitz
Journal:  J Med Genet       Date:  1985-04       Impact factor: 6.318
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.