Literature DB >> 3276177

Gene conversions, deletions, and polymorphisms in congenital adrenal hyperplasia.

W L Miller1.   

Abstract

Entities:  

Mesh：

Year:  1988        PMID： 3276177      PMCID： PMC1715342     

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


× No keyword cloud information.
  27 in total

Review 1.  Genetic recombination: strand transfer and mismatch repair.

Authors:  C M Radding
Journal:  Annu Rev Biochem       Date:  1978       Impact factor: 23.643

2.  Evidence for frequent gene conversion in the steroid 21-hydroxylase P-450(C21) gene: implications for steroid 21-hydroxylase deficiency.

Authors:  Y Higashi; A Tanae; H Inoue; Y Fujii-Kuriyama
Journal:  Am J Hum Genet       Date:  1988-01       Impact factor: 11.025

3.  Gene organization of haplotypes expressing two different C4A allotypes.

Authors:  A Palsdottir; A Arnason; R Fossdal; O Jensson
Journal:  Hum Genet       Date:  1987-07       Impact factor: 4.132

Review 4.  Congenital adrenal hyperplasia (2).

Authors:  P C White; M I New; B Dupont
Journal:  N Engl J Med       Date:  1987-06-18       Impact factor: 91.245

Review 5.  Molecular and clinical advances in congenital adrenal hyperplasia.

Authors:  W L Miller; L S Levine
Journal:  J Pediatr       Date:  1987-07       Impact factor: 4.406

6.  The P450 gene superfamily: recommended nomenclature.

Authors:  D W Nebert; M Adesnik; M J Coon; R W Estabrook; F J Gonzalez; F P Guengerich; I C Gunsalus; E F Johnson; B Kemper; W Levin
Journal:  DNA       Date:  1987-02

Review 7.  The molecular genetics of human hemoglobins.

Authors:  T Maniatis; E F Fritsch; J Lauer; R M Lawn
Journal:  Annu Rev Genet       Date:  1980       Impact factor: 16.830

8.  Intergenic conversion and reiterated genes.

Authors:  R Egel
Journal:  Nature       Date:  1981-03-19       Impact factor: 49.962

9.  Coordinate tropic hormone regulation of mRNAs for insulin-like growth factor II and the cholesterol side-chain-cleavage enzyme, P450scc [corrected], in human steroidogenic tissues.

Authors:  R Voutilainen; W L Miller
Journal:  Proc Natl Acad Sci U S A       Date:  1987-03       Impact factor: 11.205

10.  Human fetal G gamma- and A gamma-globin genes: complete nucleotide sequences suggest that DNA can be exchanged between these duplicated genes.

Authors:  J L Slightom; A E Blechl; O Smithies
Journal:  Cell       Date:  1980-10       Impact factor: 41.582
View more
  12 in total

Review 1.  The chimeric CYP21P/CYP21 gene and 21-hydroxylase deficiency.

Authors:  Hsien-Hsiung Lee
Journal:  J Hum Genet       Date:  2004-01-17       Impact factor: 3.172

2.  A recombination hot spot in the Rh genes revealed by analysis of unrelated donors with the rare D-- phenotype.

Authors:  T J Kemp; M Poulter; B Carritt
Journal:  Am J Hum Genet       Date:  1996-11       Impact factor: 11.025

3.  Rearrangements and point mutations of P450c21 genes are distinguished by five restriction endonuclease haplotypes identified by a new probing strategy in 57 families with congenital adrenal hyperplasia.

Authors:  Y Morel; J André; B Uring-Lambert; G Hauptmann; H Bétuel; M Tossi; M G Forest; M David; J Bertrand; W L Miller
Journal:  J Clin Invest       Date:  1989-02       Impact factor: 14.808

4.  The human debrisoquine 4-hydroxylase (CYP2D) locus: sequence and identification of the polymorphic CYP2D6 gene, a related gene, and a pseudogene.

Authors:  S Kimura; M Umeno; R C Skoda; U A Meyer; F J Gonzalez
Journal:  Am J Hum Genet       Date:  1989-12       Impact factor: 11.025

5.  Genesis by meiotic unequal crossover of a de novo deletion that contributes to steroid 21-hydroxylase deficiency.

Authors:  P Sinnott; S Collier; C Costigan; P A Dyer; R Harris; T Strachan
Journal:  Proc Natl Acad Sci U S A       Date:  1990-03       Impact factor: 11.205

6.  The -104G nucleotide of the human CYP21 gene is important for CYP21 transcription activity and protein interaction.

Authors:  K K Chin; S F Chang
Journal:  Nucleic Acids Res       Date:  1998-04-15       Impact factor: 16.971

7.  Molecular detection of genetic defects in congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a study of 27 families.

Authors:  D Strumberg; B P Hauffa; B Horsthemke; H Grosse-Wilde
Journal:  Eur J Pediatr       Date:  1992-11       Impact factor: 3.183

8.  Defective, deleted or converted CYP21B gene and negative association with a rare restriction fragment length polymorphism allele of the factor B gene in congenital adrenal hyperplasia.

Authors:  N Ghanem; J M Lobaccaro; C Buresi; M Abbal; G Halaby; C Sultan; G Lefranc
Journal:  Hum Genet       Date:  1990-12       Impact factor: 4.132

9.  Gene conversion in steroid 21-hydroxylase genes.

Authors:  K Urabe; A Kimura; F Harada; T Iwanaga; T Sasazuki
Journal:  Am J Hum Genet       Date:  1990-06       Impact factor: 11.025

10.  Direct molecular diagnosis of CYP21 mutations in congenital adrenal hyperplasia.

Authors:  H H Lee; H T Chao; H T Ng; K B Choo
Journal:  J Med Genet       Date:  1996-05       Impact factor: 6.318
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.