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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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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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Genotype/phenotype correlations in Wilms' tumor
Medical and Pediatric Oncology, 1996Study of genotype/phenotype relationships involving the Wilms' tumor (WT) gene, WT1, in WT patients has provided insights into the function of the WT1 protein, a transcriptional regulator, and has suggested possible mutational mechanisms important in the etiology of WT.
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Genotype-Phenotype Correlation in Trichilemmal Cysts
Journal of Investigative Dermatology, 2021Ahmed Yousaf +5 more
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Genotype-Phenotype Correlation in Wilson Disease
Journal of Clinical Gastroenterology, 2010Simon, Horslen, Si Houn, Hahn
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