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Genotype-phenotype correlations in β-thalassemias
Blood Reviews, 1994In this paper we review the molecular basis of the marked heterogeneity of the thalassemia syndromes as well as the relative implications for carrier screening and prenatal diagnosis. The classical phenotype of heterozygous beta-thalassemia may be modified by a number of environmental and genetic interacting factors--among which the most relevant are: (
CAO A +2 more
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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/
Barbara Bauce, Andrea Nava
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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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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 Correlates in Arrhythmogenic Cardiomyopathies
Current Cardiology Reports, 2022The definition of arrhythmogenic cardiomyopathy (ACM) has expanded beyond desmosomal arrhythmogenic right ventricular cardiomyopathy (ARVC) to include other genetic cardiomyopathies with a significant arrhythmia burden. Emerging data on genotype-phenotype correlations has led recent consensus guidelines to urge genetic testing as a critical component ...
Brittney Murray, Cynthia A. James
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Genotype-phenotype correlations in Noonan syndrome
The Journal of Pediatrics, 2004OBJECTIVE To study genotype-phenotype correlations in a cohort of clinically well-characterized pediatric patients with Noonan syndrome (NS). Study design Fifty-seven unrelated patients with the clinical diagnosis of NS ascertained according to standardized inclusion criteria were prospectively enrolled.
Zenker, Martin +11 more
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Correlating phenotype and genotype in the periodic paralyses
Neurology, 2004Periodic paralyses and paramyotonia congenita are rare disorders causing disabling weakness and myotonia. Mutations in sodium, calcium, and potassium channels have been recognized as causing disease.To analyze the clinical phenotype of patients with and without discernible genotype and to identify other mutations in ion channel genes associated with ...
MILLER TM +14 more
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Primary hyperoxaluria: Genotype-phenotype correlation
Journal of Nephrology, 2003Primary hyperoxaluria type 1 (PH1) is an autosomal recessive disorder caused by a deficiency of alanineglyoxylate aminotransferase (AGT), which is encoded by a single copy gene (AGXT). Molecular diagnosis was used in conjunction with clinical, biochemical and enzymological data to evaluate genotype-phenotype correlation.
Doroti, Pirulli +2 more
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Genotype phenotype correlation in achondroplasia and hypochondroplasia
The Journal of Bone and Joint Surgery. British volume, 1998Recent studies of the fibroblast growth factor receptor 3 (FGFR3) gene have established that achondroplasia and hypochondroplasia are allelic disorders of different mutations. To determine whether the genotype could be distinguished on the basis of the phenotype, we analysed height, arm span, and skeletal radiographs from 23 patients ...
Y, Matsui +5 more
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Ultrastructural and Electrophysiological Correlation of the Genotypes of NCL
Molecular Genetics and Metabolism, 1999Several genetically different, but clinically similar childhood forms of neuronal ceroid lipofuscinosis are now recognized. Accurate diagnosis is important so that appropriate genetic advice can be given, molecular analysis can be undertaken, and prenatal testing can be considered.
R E, Williams, S, Boyd, B D, Lake
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