Literature DB >> 2063924

Characterization of deletions at the retinoblastoma locus in patients with bilateral retinoblastoma.

K Kloss1, P Währisch, V Greger, E Messmer, H Fritze, W Höpping, E Passarge, B Horsthemke.   

Abstract

DNA samples from 92 unrelated patients with bilateral retinoblastoma were analyzed by Southern blot hybridization with cDNA and genomic clones of the retinoblastoma (RB-1) gene. Qualitative and quantitative evaluation of the Southern blot patterns showed a deletion of all or part of the RB-1 gene in 15 patients. Deletion hot spots were not detected. The study shows that 16% of germ cell mutations are detectable by Southern blot hybridization, but that densitometric analysis is required in most cases.

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Year:  1991        PMID： 2063924     DOI： 10.1002/ajmg.1320390215

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  13 in total

1.  The spectrum of RB1 germ-line mutations in hereditary retinoblastoma.

Authors:  D R Lohmann; B Brandt; W Höpping; E Passarge; B Horsthemke
Journal:  Am J Hum Genet       Date:  1996-05       Impact factor: 11.025

2.  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

3.  Detection of mutations of the RB1 gene in retinoblastoma patients by using exon-by-exon PCR-SSCP analysis.

Authors:  T Shimizu; J Toguchida; M V Kato; A Kaneko; K Ishizaki; M S Sasaki
Journal:  Am J Hum Genet       Date:  1994-05       Impact factor: 11.025

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.  Sensitive and efficient detection of RB1 gene mutations enhances care for families with retinoblastoma.

Authors:  Suzanne Richter; Kirk Vandezande; Ning Chen; Katherine Zhang; Joanne Sutherland; Julie Anderson; Liping Han; Rachel Panton; Patricia Branco; Brenda Gallie
Journal:  Am J Hum Genet       Date:  2002-12-18       Impact factor: 11.025

7.  Germ-line and somatic p53 gene mutations in multifocal osteogenic sarcoma.

Authors:  A Iavarone; K K Matthay; T M Steinkirchner; M A Israel
Journal:  Proc Natl Acad Sci U S A       Date:  1992-05-01       Impact factor: 11.205

8.  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

9.  Frequency and parental origin of hypermethylated RB1 alleles in retinoblastoma.

Authors:  V Greger; N Debus; D Lohmann; W Höpping; E Passarge; B Horsthemke
Journal:  Hum Genet       Date:  1994-11       Impact factor: 4.132

10.  Retinoblastoma and mental retardation microdeletion syndrome: clinical characterization and molecular dissection using array CGH.

Authors:  R Caselli; C Speciale; C Pescucci; V Uliana; K Sampieri; M Bruttini; I Longo; S De Francesco; T Pramparo; O Zuffardi; R Frezzotti; A Acquaviva; T Hadjistilianou; A Renieri; F Mari
Journal:  J Hum Genet       Date:  2007-05-15       Impact factor: 3.172
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