Literature DB >> 6731533

Linkage of genes for human esterase D and hereditary retinoblastoma.

S Mukai, J M Rapaport, J A Shields, J J Augsburger, T P Dryja.   

Abstract

Determinations of esterase D isoenzymes in the members of a family with hereditary retinoblastoma gave results consistent with linkage between the loci for esterase D and retinoblastoma. This gene linkage allows the detection of gene carrier states in certain kindreds. We used this technique to predict that a 6-month-old boy carries the tumor-predisposing retinoblastoma gene.

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Year:  1984        PMID： 6731533     DOI： 10.1016/0002-9394(84)90497-5

Source DB:  PubMed          Journal:  Am J Ophthalmol        ISSN： 0002-9394            Impact factor:   5.258


  10 in total

1.  Genetic counselling in retinoblastoma: importance of ocular fundus examination of first degree relatives and linkage analysis.

Authors:  Z Onadim; P G Hykin; J L Hungerford; J K Cowell
Journal:  Br J Ophthalmol       Date:  1991-03       Impact factor: 4.638

2.  Application of intragenic DNA probes in prenatal screening for retinoblastoma gene carriers in the United Kingdom.

Authors:  Z O Onadim; C D Mitchell; P C Rutland; B G Buckle; M Jay; J L Hungerford; K Harper; J K Cowell
Journal:  Arch Dis Child       Date:  1990-07       Impact factor: 3.791

3.  Deletion of chromosome region 13q14 is transmissible and does not always predispose to retinoblastoma.

Authors:  J K Cowell; P Rutland; J Hungerford; M Jay
Journal:  Hum Genet       Date:  1988-09       Impact factor: 4.132

Review 4.  Putative non-Mendelian transmission of retinoblastoma in males: a phenotypic segregation analysis of 150 pedigrees.

Authors:  F L Munier; L Arabien; P Flodman; M A Spence; G Pescia; H P Rutz; A L Murphree
Journal:  Hum Genet       Date:  1994-11       Impact factor: 4.132

5.  Human esterase D gene: complete cDNA sequence, genomic structure, and application in the genetic diagnosis of human retinoblastoma.

Authors:  L J Young; E Y Lee; H A To; R Bookstein; J Y Shew; L A Donoso; T Sery; M Giblin; J A Shields; W H Lee
Journal:  Hum Genet       Date:  1988-06       Impact factor: 4.132

6.  Molecular cloning of the human esterase D gene, a genetic marker of retinoblastoma.

Authors:  E Y Lee; W H Lee
Journal:  Proc Natl Acad Sci U S A       Date:  1986-09       Impact factor: 11.205

7.  Extended polymorphism of the human esterase D isozyme system: description of a "new" allele EsD*11.

Authors:  J Henke; H Schweitzer; W Bär; S Weidinger; J Weissmann; M P Baur
Journal:  Hum Genet       Date:  1986-05       Impact factor: 4.132

8.  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

9.  An assessment of the usefulness of electrophoretic variants of esterase-D in the antenatal diagnosis of retinoblastoma in the United Kingdom.

Authors:  J K Cowell; M Jay; P Rutland; J Hungerford
Journal:  Br J Cancer       Date:  1987-06       Impact factor: 7.640

Review 10.  Retinoblastoma--clinical and genetic aspects: a review.

Authors:  J K Cowell; J Hungerford; M Jay; P Rutland
Journal:  J R Soc Med       Date:  1988-04       Impact factor: 18.000
  10 in total

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