Literature DB >> 3346019

A "new" allele of esterase D in a retinoblastoma family.

F Munier1, G Pescia, A Balmer, W Bär, M Roth, N Dimo-Simonin, S Weidinger.   

Abstract

We describe a new rare allele for esterase D (EsD) occurring in a Portuguese family with retinoblastoma in two generations.

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Year:  1988        PMID： 3346019     DOI： 10.1007/bf00291680

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


  20 in total

1.  Esterase D: a new human polymorphism.

Authors:  D A Hopkinson; M A Mestriner; J Cortner; H Harris
Journal:  Ann Hum Genet       Date:  1973-10       Impact factor: 1.670

2.  Polymorphism of EsD by isoelectric focusing: description of the new allele EsD*Kofu and phenotyping in bloodstains.

Authors:  N Komatsu; M Oya; A Kido
Journal:  Z Rechtsmed       Date:  1985

3.  Population genetic studies of the Philippine Negritos. I. A pilot survey of red cell enzyme and serum protein groups.

Authors:  K Omoto; S Misawa; S Harada; J S Sumpaico; P M Medado; H Ogonuki
Journal:  Am J Hum Genet       Date:  1978-03       Impact factor: 11.025

4.  Regional assignment of genes for human esterase D and retinoblastoma to chromosome band 13q14.

Authors:  R S Sparkes; M C Sparkes; M G Wilson; J W Towner; W Benedict; A L Murphree; J J Yunis
Journal:  Science       Date:  1980-05-30       Impact factor: 47.728

5.  Location of the retinoblastoma susceptibility gene(s) and the human esterase D locus.

Authors:  P Ward; S Packman; W Loughman; M Sparkes; R Sparkes; A McMahon; T Gregory; A Ablin
Journal:  J Med Genet       Date:  1984-04       Impact factor: 6.318

6.  A null allele of esterase D is a marker for genetic events in retinoblastoma formation.

Authors:  W H Lee; R Bookstein; W Wheatley; W F Benedict; E Y Lee
Journal:  Hum Genet       Date:  1987-05       Impact factor: 4.132

7.  Esterase D phenotypes in North-eastern Japan.

Authors:  T Suzuki; S Kashimura; K Umetsu; T Kudo
Journal:  Z Rechtsmed       Date:  1978-05-29

8.  Effect of the esterase-D phenotype on its in vitro enzyme activity.

Authors:  J K Cowell; P Rutland; M Jay; J Hungerford
Journal:  Hum Genet       Date:  1986-11       Impact factor: 4.132

9.  Familial, EsD-linked, retinoblastoma with reduced penetrance and variable expressivity.

Authors:  M J Connolly; R H Payne; G Johnson; B L Gallie; P W Allderdice; W H Marshall; R D Lawton
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132

10.  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
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  1 in total

1.  Paternal selection favoring mutant alleles of the retinoblastoma susceptibility gene.

Authors:  F Munier; M A Spence; G Pescia; A Balmer; C Gailloud; F Thonney; G van Melle; H P Rutz
Journal:  Hum Genet       Date:  1992-07       Impact factor: 4.132
  1 in total

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