Literature DB >> 6092262

Del11p13/nephroblastoma without aniridia.

C Turleau, J de Grouchy, C Nihoul-Fékété, J L Dufier, F Chavin-Colin, C Junien.   

Abstract

A patient is reported with del11p13, low catalase level, nephroblastoma, chordee and cryptorchidism, no evident mental retardation, and with normal irides. This unique observation suggests the following order of loci in 11p13, from centromere to telomere: catalase, Wilms tumor, aniridia. The chromosomal origin of nephroblastoma may be more frequent than estimated on the basis of its association with aniridia.

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Year:  1984        PMID： 6092262     DOI： 10.1007/bf00291410

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


  8 in total

1.  ASSOCIATION OF WILMS'S TUMOR WITH ANIRIDIA, HEMIHYPERTROPHY AND OTHER CONGENITAL MALFORMATIONS.

Authors:  R W MILLER; J F FRAUMENI; M D MANNING
Journal:  N Engl J Med       Date:  1964-04-30       Impact factor: 91.245

2.  Aniridia-Wilms' tumour syndrome.

Authors:  J François; D Coucke; R Coppieters
Journal:  Ophthalmologica       Date:  1977       Impact factor: 3.250

3.  Chromosomal imbalance in the Aniridia-Wilms' tumor association: 11p interstitial deletion.

Authors:  V M Riccardi; E Sujansky; A C Smith; U Francke
Journal:  Pediatrics       Date:  1978-04       Impact factor: 7.124

4.  Del 11p/aniridia complex. Report of three patients and review of 37 observations from the literature.

Authors:  C Turleau; J de Grouchy; M F Tournade; M F Gagnadoux; C Junien
Journal:  Clin Genet       Date:  1984-10       Impact factor: 4.438

5.  Wilms's tumour and aniridia: clinical and cytogenetic features.

Authors:  R S Shannon; J R Mann; E Harper; D G Harnden; J E Morten; A Herbert
Journal:  Arch Dis Child       Date:  1982-09       Impact factor: 3.791

6.  Chromosome abnormalities involving 11p13 and low erythrocyte catalase activity.

Authors:  N Niikawa; Y Fukushima; N Taniguchi; S Iizuka; T Kajii
Journal:  Hum Genet       Date:  1982       Impact factor: 4.132

7.  Wilms tumor with aniridia/iris dysplasia and apparently normal chromosomes.

Authors:  V M Riccardi; H M Hittner; L C Strong; D J Fernbach; R Lebo; R E Ferrell
Journal:  J Pediatr       Date:  1982-04       Impact factor: 4.406

8.  Catalase determination in various etiologic forms of Wilms' tumor and gonadoblastoma.

Authors:  C Junien; C Turleau; G M Lenoir; T Philip; R Said; S Despoisse; C Laurent; M O Rethoré; J C Kaplan; J de Grouchy
Journal:  Cancer Genet Cytogenet       Date:  1983-09
  8 in total
  13 in total

1.  Somatic cell hybrid and long-range physical mapping of 11p13 microdissected genomic clones.

Authors:  L M Davis; G Senger; H J Lüdecke; U Claussen; B Horsthemke; S S Zhang; B Metzroth; K Hohenfellner; B Zabel; T B Shows
Journal:  Proc Natl Acad Sci U S A       Date:  1990-09       Impact factor: 11.205

2.  A deletion map of the WAGR region on chromosome 11.

Authors:  M Gessler; G H Thomas; P Couillin; C Junien; B C McGillivray; M Hayden; G Jaschek; G A Bruns
Journal:  Am J Hum Genet       Date:  1989-04       Impact factor: 11.025

3.  Rapid isolation of moderate and highly polymorphic DNA fragments mapping close to WT (Wilms' tumour) and AN2 (aniridia) on chromosome 11.

Authors:  P A Boyd; S Christie; N D Hastie; D J Porteous
Journal:  Hum Genet       Date:  1989-03       Impact factor: 4.132

Review 4.  Mendelian cytogenetics. Chromosome rearrangements associated with mendelian disorders.

Authors:  N Tommerup
Journal:  J Med Genet       Date:  1993-09       Impact factor: 6.318

5.  HRAS1-selected chromosome transfer generates markers that colocalize aniridia- and genitourinary dysplasia-associated translocation breakpoints and the Wilms tumor gene within band 11p13.

Authors:  D J Porteous; W Bickmore; S Christie; P A Boyd; G Cranston; J M Fletcher; J R Gosden; D Rout; A Seawright; K O Simola
Journal:  Proc Natl Acad Sci U S A       Date:  1987-08       Impact factor: 11.205

6.  Regional localization of DNA probes on the short arm of chromosome 11 using aniridia-Wilms' tumor-associated deletions.

Authors:  M Mannens; R M Slater; C Heyting; A Geurts van Kessel; E Goedde-Salz; R R Frants; G J Van Ommen; P L Pearson
Journal:  Hum Genet       Date:  1987-02       Impact factor: 4.132

7.  Molecular analysis of chromosome 11 deletions in aniridia-Wilms tumor syndrome.

Authors:  V van Heyningen; P A Boyd; A Seawright; J M Fletcher; J A Fantes; K E Buckton; G Spowart; D J Porteous; R E Hill; M S Newton
Journal:  Proc Natl Acad Sci U S A       Date:  1985-12       Impact factor: 11.205

8.  Use of catalase polymorphisms in the study of sporadic aniridia.

Authors:  P Boyd; V van Heyningen; A Seawright; G Fekete; N Hastie
Journal:  Hum Genet       Date:  1986-06       Impact factor: 4.132

9.  Expression of the 11p13 Wilms' tumor gene, WT1, correlates with histologic category of Wilms' tumor.

Authors:  W L Gerald; T S Gramling; D A Sens; A J Garvin
Journal:  Am J Pathol       Date:  1992-05       Impact factor: 4.307

10.  Role for the Wilms tumor gene in genital development?

Authors:  V van Heyningen; W A Bickmore; A Seawright; J M Fletcher; J Maule; G Fekete; M Gessler; G A Bruns; C Huerre-Jeanpierre; C Junien
Journal:  Proc Natl Acad Sci U S A       Date:  1990-07       Impact factor: 11.205
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