Literature DB >> 6127950

Association of del(11)(p15.1p12), aniridia, catalase deficiency, and cardiomyopathy.

S Gilgenkrantz, C Vigneron, M J Gregoire, C Pernot, A Raspiller.   

Abstract

We report another patient with del(11p) and aniridia, catalase deficiency, and cardiomyopathy. This association is confirmed from a review of previously reported cases. Since other dysplasias are known in this syndrome, the hypertrophic cardiomyopathy in del(11p) children may also represent an abnormality of tissue development.

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Year:  1982        PMID： 6127950     DOI： 10.1002/ajmg.1320130108

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  9 in total

1.  [Terminal renal failure in aniridia-Wilms syndrome].

Authors:  H Wilms; E Back; G Kirste
Journal:  Klin Wochenschr       Date:  1986-09-01

2.  Familial isolated aniridia associated with a translocation involving chromosomes 11 and 22 [t(11;22)(p13;q12.2)].

Authors:  J W Moore; S Hyman; S E Antonarakis; E H Mules; G H Thomas
Journal:  Hum Genet       Date:  1986-04       Impact factor: 4.132

3.  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

4.  Molecular analysis of gene deletion in aniridia--Wilms tumor association.

Authors:  E E Michalopoulos; P J Bevilacqua; N Stokoe; V E Powers; H F Willard; W H Lewis
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

5.  Regional mapping of catalase and Wilms tumor--aniridia, genitourinary abnormalities, and mental retardation triad loci to the chromosome segment 11p1305----p1306.

Authors:  K Narahara; K Kikkawa; S Kimira; H Kimoto; M Ogata; R Kasai; M Hamawaki; K Matsuoka
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

6.  High-resolution studies in patients with aniridia-Wilms tumor association, Wilms tumor or related congenital abnormalities.

Authors:  Y Nakagome; T Ise; M Sakurai; T Nakajo; E Okamoto; T Takano; Y Nakahori; Y Tsuchida; N Nagahara; Y Takada
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

7.  Characterization of a panel of somatic cell hybrids for subregional mapping along 11p and within band 11p13. Subdivision of the WAGR complex region.

Authors:  P Couillin; M Azoulay; I Henry; N Ravisé; M C Grisard; C Jeanpierre; F Barichard; P Metezeau; J J Candelier; W Lewis
Journal:  Hum Genet       Date:  1989-05       Impact factor: 4.132

8.  The E7-associated cell-surface antigen: a marker for the 11p13 chromosomal deletion associated with aniridia-Wilms tumor.

Authors:  C H Scoggin; J H Fisher; S A Shoemaker; H Morse; T Leigh; V M Riccardi
Journal:  Am J Hum Genet       Date:  1985-09       Impact factor: 11.025

9.  Familial aniridia and translocation t(4;11)(q22;p13) without Wilms' tumor.

Authors:  K O Simola; S Knuutila; I Kaitila; A Pirkola; P Pohja
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132
  9 in total

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