Literature DB >> 1463022

A simple and nonradioactive method for detecting the Rb1.20 DNA polymorphism in the retinoblastoma gene.

B Brandt, V Greger, D Yandell, E Passarge, B Horsthemke.   

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Year:  1992        PMID： 1463022      PMCID： PMC1682928     

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


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  2 in total

1.  Detection of small RB1 gene deletions in retinoblastoma by multiplex PCR and high-resolution gel electrophoresis.

Authors:  D Lohmann; B Horsthemke; G Gillessen-Kaesbach; F H Stefani; H Höfler
Journal:  Hum Genet       Date:  1992-04       Impact factor: 4.132

2.  Detection of DNA sequence polymorphisms by enzymatic amplification and direct genomic sequencing.

Authors:  D W Yandell; T P Dryja
Journal:  Am J Hum Genet       Date:  1989-10       Impact factor: 11.025
  2 in total
  6 in total

1.  Constitutional RB1-gene mutations in patients with isolated unilateral retinoblastoma.

Authors:  D R Lohmann; M Gerick; B Brandt; U Oelschläger; B Lorenz; E Passarge; B Horsthemke
Journal:  Am J Hum Genet       Date:  1997-08       Impact factor: 11.025

2.  Marked geographic aggregation of acute intermittent porphyria families carrying mutation Q180X in Venezuelan populations, with description of further mutations.

Authors:  Irene Paradisi; Sergio Arias
Journal:  J Inherit Metab Dis       Date:  2010-10-27       Impact factor: 4.982

3.  Huntington disease mutation in Venezuela: age of onset, haplotype analyses and geographic aggregation.

Authors:  Irene Paradisi; Alba Hernández; Sergio Arias
Journal:  J Hum Genet       Date:  2007-12-22       Impact factor: 3.172

4.  RB1 germ-line deletions in Argentine retinoblastoma patients.

Authors:  Cecilia Fernández; Karina Repetto; Viviana Dalamon; Fenanda Bergonzi; Veronica Ferreiro; Irene Szijan
Journal:  Mol Diagn Ther       Date:  2007       Impact factor: 4.074

5.  Distinct RB1 gene mutations with low penetrance in hereditary retinoblastoma.

Authors:  D R Lohmann; B Brandt; W Höpping; E Passarge; B Horsthemke
Journal:  Hum Genet       Date:  1994-10       Impact factor: 4.132

6.  Identification of RB1 germline mutations in Argentinian families with sporadic bilateral retinoblastoma.

Authors:  I Szijan; D R Lohmann; D L Parma; B Brandt; B Horsthemke
Journal:  J Med Genet       Date:  1995-06       Impact factor: 6.318
  6 in total

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