Literature DB >> 3502693

De novo t(2;13)(p24.3;q14.2) and retinoblastoma. Mapping of two 13q14 probes by in situ hybridization.

V Blanquet, C Turleau, N Créau-Goldberg, C Cochet, J de Grouchy.   

Abstract

The two probes H3-8 and H2-42, known to be located in 13q14, were mapped by in situ hybridization to either side of the 13 breakpoint of an apparently balanced de novo t(2;13)(p24.3;q14.2) detected in a patient with retinoblastoma as the only phenotypic manifestation.

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Year:  1987        PMID: 3502693     DOI: 10.1007/BF00283059

Source DB:  PubMed          Journal:  Hum Genet        ISSN: 0340-6717            Impact factor:   4.132


  10 in total

1.  Familial isolated aniridia associated with a translocation involving chromosomes 11 and 22 [t(11;22)(p13;q12.2)].

Authors:  J W Moore; S Hyman; S E Antonarakis; E H Mules; G H Thomas
Journal:  Hum Genet       Date:  1986-04       Impact factor: 4.132

2.  DNA probe localization at 18p113 band by in situ hybridization and identification of a small supernumerary chromosome.

Authors:  M G Mattei; N Philip; E Passage; J P Moisan; J L Mandel; J F Mattei
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

3.  Cytogenetic forms of retinoblastoma: their incidence in a survey of 66 patients.

Authors:  C Turleau; J de Grouchy; F Chavin-Colin; C Junien; J Séger; P Schlienger; A Leblanc; C Haye
Journal:  Cancer Genet Cytogenet       Date:  1985-04-15

4.  "A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity". Addendum.

Authors:  A P Feinberg; B Vogelstein
Journal:  Anal Biochem       Date:  1984-02       Impact factor: 3.365

5.  A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity.

Authors:  A P Feinberg; B Vogelstein
Journal:  Anal Biochem       Date:  1983-07-01       Impact factor: 3.365

6.  Familial aniridia and translocation t(4;11)(q22;p13) without Wilms' tumor.

Authors:  K O Simola; S Knuutila; I Kaitila; A Pirkola; P Pohja
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132

7.  Molecular detection and differentiation of deletions in band 13q14 in human retinoblastoma.

Authors:  M Lalande; T Donlon; R A Petersen; R Liberfarb; S Manter; S A Latt
Journal:  Cancer Genet Cytogenet       Date:  1986-10

8.  Isolation of human chromosome 13-specific DNA sequences cloned from flow sorted chromosomes and potentially linked to the retinoblastoma locus.

Authors:  M Lalande; T P Dryja; R R Schreck; J Shipley; A Flint; S A Latt
Journal:  Cancer Genet Cytogenet       Date:  1984-12

9.  A human DNA segment with properties of the gene that predisposes to retinoblastoma and osteosarcoma.

Authors:  S H Friend; R Bernards; S Rogelj; R A Weinberg; J M Rapaport; D M Albert; T P Dryja
Journal:  Nature       Date:  1986 Oct 16-22       Impact factor: 49.962

10.  Molecular detection of deletions involving band q14 of chromosome 13 in retinoblastomas.

Authors:  T P Dryja; J M Rapaport; J M Joyce; R A Petersen
Journal:  Proc Natl Acad Sci U S A       Date:  1986-10       Impact factor: 11.205

  10 in total
  5 in total

1.  Involvement of the region 13q14 in a patient with adamantinoma of the long bones.

Authors:  G Sozzi; M Miozzo; S Di Palma; A Minelli; C Calderone; C Danesino; U Pastorino; M A Pierotti; G Della Porta
Journal:  Hum Genet       Date:  1990-10       Impact factor: 4.132

2.  Physical localisation of the chromosomal marker D13S31 places the Wilson disease locus at the junction of bands q14.3 and q21.1 of chromosome 13.

Authors:  R F Kooy; A Y Van der Veen; E Verlind; R H Houwen; H Scheffer; C H Buys
Journal:  Hum Genet       Date:  1993-06       Impact factor: 4.132

3.  Disruption of chromodomain helicase DNA binding protein 2 (CHD2) causes scoliosis.

Authors:  Shashikant Kulkarni; Prabakaran Nagarajan; Jonathan Wall; Diana J Donovan; Robert L Donell; Azra H Ligon; Sundaresan Venkatachalam; Bradley J Quade
Journal:  Am J Med Genet A       Date:  2008-05-01       Impact factor: 2.802

4.  Molecular detection of chromosomal translocations that disrupt the putative retinoblastoma susceptibility locus.

Authors:  M J Higgins; M F Hansen; W K Cavenee; M Lalande
Journal:  Mol Cell Biol       Date:  1989-01       Impact factor: 4.272

5.  Increased SOD1 enzymatic activity and gene modifications in orangutans: evolutionary implications.

Authors:  J de Grouchy; A Nicole; C Cochet; P M Sinet; N Créau-Goldberg
Journal:  Hum Genet       Date:  1991-09       Impact factor: 4.132

  5 in total

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