Literature DB >> 3279212

A combinatorial method for grouping cases with multiple malformations.

R M Winter1, R D Clark, K Ashley, G Gibbs.   

Abstract

A combinatorial method is described for grouping cases with multiple malformations for the purpose of identifying previously undescribed syndromes. This method includes ways of carrying out 'tight' or 'loose' grouping, of allowing for variability of reporting of physical features by different observers, and of minimising the number of 'spurious' groups. Evaluation using a test data set of known dysmorphic syndromes showed that the method provides a feasible and useful means of grouping undiagnosed cases.

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Year:  1988        PMID： 3279212      PMCID： PMC1015453          DOI： 10.1136/jmg.25.2.118

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  2 in total

1.  A computerised data base for the diagnosis of rare dysmorphic syndromes.

Authors:  R M Winter; M Baraitser; J M Douglas
Journal:  J Med Genet       Date:  1984-04       Impact factor: 6.318

2.  Errors of morphogenesis: concepts and terms. Recommendations of an international working group.

Authors:  J Spranger; K Benirschke; J G Hall; W Lenz; R B Lowry; J M Opitz; L Pinsky; H G Schwarzacher; D W Smith
Journal:  J Pediatr       Date:  1982-01       Impact factor: 4.406
  2 in total
  2 in total

Review 1.  Malformation syndromes: a review of mouse/human homology.

Authors:  R M Winter
Journal:  J Med Genet       Date:  1988-07       Impact factor: 6.318

2.  Clinical features and molecular analysis of the alpha thalassemia/mental retardation syndromes. I. Cases due to deletions involving chromosome band 16p13.3.

Authors:  A O Wilkie; V J Buckle; P C Harris; J Lamb; N J Barton; S T Reeders; R H Lindenbaum; R D Nicholls; M Barrow; N C Bethlenfalvay
Journal:  Am J Hum Genet       Date:  1990-06       Impact factor: 11.025
  2 in total

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