Literature DB >> 511174

Expression of esterase D and other gene markers in trisomy 13.

R S Sparkes, M C Sparkes, M Crist.   

Abstract

A gene dosage effect was observed for esterase D in a patient with trisomy 13. Isoelectric focusing of hemoglobin from the same patient showed three unidentified bands. A gene dosage effect for several other enzymes was not observed in two other patients with trisomy 13.

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Year:  1979        PMID： 511174     DOI： 10.1007/bf00271571

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


  14 in total

1.  FOETAL HAEMOGLOBIN AND NEUTROPHIL ANOMALY IN THE D1-TRISOMY SYNDROME.

Authors:  D POWARS; R ROHDE; D GRAVES
Journal:  Lancet       Date:  1964-06-20       Impact factor: 79.321

2.  DEVELOPMENTAL HEMOGLOBIN ANOMALIES IN A CHROMOSOMAL TRIPLICATION: D1 TRISOMY SYNDROME.

Authors:  E R HUEHNS; F HECHT; J V KEIL; A G MOTULSKY
Journal:  Proc Natl Acad Sci U S A       Date:  1964-01       Impact factor: 11.205

3.  Genetic markers in trisomies 13 and 18.

Authors:  G B Coté; J H Edwards
Journal:  Ann Hum Genet       Date:  1976-01       Impact factor: 1.670

4.  Chromosome assignment of some human enzyme loci: mitochondrial malate dehydrogenase to 7, mannosephosphate isomerase and pyruvate kinase to 15 and probably, esterase D to 13.

Authors:  V van Heyningen; M Bobrow; W F Bodmer; S E Gardiner; S Povey; D A Hopkinson
Journal:  Ann Hum Genet       Date:  1975-01       Impact factor: 1.670

5.  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

6.  Enzyme activity in D trisomies.

Authors:  B Hall; A Dahlqvist
Journal:  Lancet       Date:  1971-10-23       Impact factor: 79.321

7.  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

8.  Hemoglobin variations in D-trisomy syndrome.

Authors:  M G Wilson; W A Schroeder; D A Graves; V D Kach
Journal:  N Engl J Med       Date:  1967-11-02       Impact factor: 91.245

9.  Hemoglobin chain synthesis in two children with trisomy 13. Evidence for temporary imbalance during switch from gamma to beta chain synthesis.

Authors:  M Jensen; J D Murken
Journal:  Eur J Pediatr       Date:  1976-05-04       Impact factor: 3.183

10.  Isoelectrofocusing: a method of multiple applications for hemoglobin studies.

Authors:  R Krishnamoorthy; H Wajcman; D Labie
Journal:  Clin Chim Acta       Date:  1976-06-01       Impact factor: 3.786
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  2 in total

1.  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 2.  The RB1 Story: Characterization and Cloning of the First Tumor Suppressor Gene.

Authors:  Jesse L Berry; Ashley Polski; Webster K Cavenee; Thaddeus P Dryja; A Linn Murphree; Brenda L Gallie
Journal:  Genes (Basel)       Date:  2019-11-01       Impact factor: 4.096
  2 in total

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