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Genotype–phenotype correlation in colorectal polyposis
Clinical Genetics, 2011Newton KF, Mallinson EKL, Bowen J, Lalloo F, Clancy T, Hill J, Evans DGR. Genotype–phenotype correlation in colorectal polyposis.Familial adenomatous polyposis (FAP) has been divided into three clinical subtypes: mild, classical and severe. This study aimed to investigate for a correlation between genotype and phenotype.
Newton, K. F. +6 more
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Genotype – phenotype correlation in FAP
Amyloid, 2012Familial Amyloidotic Polyneuropathy (FAP) was initially classified into different types based on the clinical presentation. FAP Type I included patients with predominant upper limb neuropathy, while Type II patients had initial lower limb involvement. Further confusing the issue was the description of FAP Types III and IV, which proved to result from ...
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Craniosynostoses: Phenotypic/molecular correlations
American Journal of Medical Genetics, 1995From the discovery of the first known human homeobox mutation in MSX2 for craniosynostosis of the Boston type by Jams to the recent report of 2 mutations in FGFR2 in Apert syndrome by Wilkie, it is clear that the molecular aspects of syndromes with craniosynostosis are becoming known at a dizzying pace. Four of the syndromes involve mutations in FGFR2.
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Genotype–Phenotype Correlations
2007The recent genetic discoveries in arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) permit genotype-phenotype correlation in an increasing number of subjects, providing better knowledge of the diagnostic criteria, natural history, and ethiopathogenesis of the disease. Three different groups of genes have been found to be linked to ARVC/
BAUCE, BARBARA, NAVA, ANDREA
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Genotype/phenotype correlations in familial hypercholesterolaemia
Current Opinion in Lipidology, 1998It is now possible to identify the specific gene defect in the majority of patients with familial hypercholesterolaemia. A potential benefit of this knowledge, in addition to helping with family screens, is to be able to predict the future clinical course. In order to do this, detailed genotype/phenotype correlation studies are required.
Nicholls, P., Young, I.S., Graham, C.A.
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Genotype-Phenotype Correlation in Gemistocytic Astrocytomas
Neurosurgery, 2001Gemistocytic astrocytomas often behave aggressively and carry the least favorable prognosis among diffuse astrocytomas. The frequency of p53 mutations has been reported to be significantly higher in the gemistocytic variant as compared with other astrocytomas.Between 1985 and 1998, we selected 25 tumor samples from among 201 samples from patients with ...
S, Kösel +2 more
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Genotype-Phenotype Correlations in Breast Cancer
Surgical Pathology Clinics, 2018Only a few breast cancer histologic subtypes harbor distinct genetic alterations that are associated with a specific morphology (genotype-phenotype correlation). Secretory carcinomas and adenoid cystic carcinomas are each characterized by recurrent translocations, and invasive lobular carcinomas frequently have CDH1 mutations. Solid papillary carcinoma
Jonathan D, Marotti, Stuart J, Schnitt
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Genotype–phenotype correlations in Fanconi anemia
Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis, 2009Although still incomplete, we now have a remarkably detailed and nuanced picture of both phenotypic and genotypic components of the FA spectrum. Initially described as a combination of pancytopenia with a limited number of physical anomalies, it was later recognized that additional features were compatible with the FA phenotype, including a form ...
Kornelia, Neveling +3 more
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The effects of phenotypic plasticity on genetic correlations
Trends in Ecology & Evolution, 1991Recent theory suggests that genetic correlations should help to predict the simultaneous response to selection of two or more traits, and much recent research has been directed towards understanding the sources of variation in genetic correlations.
Stearns S, de Jong G, Newman B
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Phenotype-genotype correlation in haemochromatosis subjects
Human Genetics, 1997Haemochromatosis is a common autosomal recessive genetic disorder of iron metabolism. A candidate gene was recently identified (HLA-H) and two amino acid substitutions (C282Y and H63D) were characterized. Haemochromatosis probands (n = 478) from Brittany were selected from their iron status markers, primarily serum iron, serum ferritin and transferrin ...
C, Mura +6 more
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