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Literature DB >> 6500578

Separation of retinoblastoma and esterase D loci in a patient with sporadic retinoblastoma and del(13)(q14.1q22.3).

R S Sparkes, M C Sparkes, R E Kalina, R A Pagon, D J Salk, C M Disteche.

Abstract

A chromosome 13 deletion in a patient with sporadic retinoblastoma appears to have separated the loci for retinoblastoma and esterase D. This study indicates that: (1) the retinoblastoma locus is distinct from the esterase D locus; and (2) the linear order of these genes is centromere-esterase D-retinoblastoma.

Entities: Disease Gene Species

Mesh：

Substances：

Year: 1984 PMID： 6500578 DOI： 10.1007/bf00418397

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

8 in total

1. Retinoblastoma and chromosome 13.

Authors: U Francke
Journal: Cytogenet Cell Genet Date: 1976

2. Evidence for a null allele at the esterase D (EC 3.1.1.1) locus.

Authors: R S Sparkes; S Targum; E Gershon; G F Sensabaugh; M C Sparkes; M Crist
Journal: Hum Genet Date: 1979-02-15 Impact factor: 4.132

3. Exclusion of chromosomal mosaicism: tables of 90%, 95% and 99% confidence limits and comments on use.

Authors: E B Hook
Journal: Am J Hum Genet Date: 1977-01 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. Retinoblastoma and subband deletion of chromosome 13.

Authors: J J Yunis; N Ramsay
Journal: Am J Dis Child Date: 1978-02

6. Gene for hereditary retinoblastoma assigned to human chromosome 13 by linkage to esterase D.

Authors: R S Sparkes; A L Murphree; R W Lingua; M C Sparkes; L L Field; S J Funderburk; W F Benedict
Journal: Science Date: 1983-02-25 Impact factor: 47.728

7. Low incidence of deletion of the esterase D locus in retinoblastoma patients.

Authors: T P Dryja; G A Bruns; B Gallie; R Petersen; W Green; J M Rapaport; D M Albert; P S Gerald
Journal: Hum Genet Date: 1983 Impact factor: 4.132

Review 8. Genetics of retinoblastoma.

Authors: F Vogel
Journal: Hum Genet Date: 1979-11-01 Impact factor: 4.132

8 in total

20 in total

Review 1. Hirschsprung disease, associated syndromes, and genetics: a review.

Authors: J Amiel; S Lyonnet
Journal: J Med Genet Date: 2001-11 Impact factor: 6.318

2. A case of Hirschsprung disease with a chromosome 13 microdeletion, del(13)(q32.3q33.2): potential mapping of one disease locus.

Authors: A Bottani; Y G Xie; F Binkert; A Schinzel
Journal: Hum Genet Date: 1991-10 Impact factor: 4.132

7. Molecular evidence that the esterase-D gene lies proximal to the retinoblastoma susceptibility locus in chromosome region 13q14.

Authors: C D Mitchell; J K Cowell
Journal: Hum Genet Date: 1988-12 Impact factor: 4.132

8. The genetics of retinoblastoma, revisited.

Authors: A Naumova; C Sapienza
Journal: Am J Hum Genet Date: 1994-02 Impact factor: 11.025

Review 9. Chromosomal and related Mendelian syndromes associated with Hirschsprung's disease.

Authors: S W Moore
Journal: Pediatr Surg Int Date: 2012-09-23 Impact factor: 1.827

10. The need to screen all retinoblastoma patients for esterase D activity: detection of submicroscopic chromosome deletions.

Authors: J K Cowell; E Thompson; P Rutland
Journal: Arch Dis Child Date: 1987-01 Impact factor: 3.791