M. Preus
St. John's University
10 Papers
253 Citations
M. Preus is an academic researcher from St. John's University. The author has contributed to research in topics: Noonan syndrome & Genetic heterogeneity. The author has an hindex of 8, co-authored 10 publications. Previous affiliations of M. Preus include Montreal Children's Hospital.
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Papers
Noonan syndrome: the changing phenotype.
TL;DR: This study has studied serial and family photographs of NS individuals in order to assess the likelihood of gene carriers' being missed in genetic sutdies and confirmed wide clinical variability within families, and suggests that the change of phenotype with age may have been falsely perceived as clinical heterogeneity.
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Noonan Syndrome: The Changing Phenotype
TL;DR: This study has studied serial and family photographs of NS individuals in order to assess the likelihood of gene carriers' being missed in genetic studies and confirmed wide clinical variability within families, and suggests that the change of phenotype with age may have been falsely perceived as clinical heterogeneity.
96
Definition and Diagnosis of the Brachmann-De Lange Syndrome
TL;DR: A group of 30 characters that best distinguish the two groups of patients was used to construct a diagnostic index, which is expected to divide 99% of patients into those with and without the syndrome, leaving 1% in a "zone of doubt."
63
Formal analysis of dysmorphism: Objective methods of syndrome definition
TL;DR: A set of descriptors was developed and used to code patients with 4p or 9p monosomy or trisomy, “blind” as to their karyotype, providing further knowledge of phenotypic effects of specific chromosomal segments, which will aid cytogeneticists in their search for karyotypic defects.
27
A taxonomic approach to the del(4p) phenotype.
TL;DR: Numerical analysis of the phenotype allows one to identify patients who most likely have a deletion requiring a more intensive cytogenetics analysis and represents a heterogeneous group of other syndromes.
26