Results 271 to 280 of about 63,568 (308)

Genotype – phenotype correlation in FAP

Amyloid, 2012
Familial 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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Updated Genotype-Phenotype Correlations in TSC

Seminars in Pediatric Neurology, 2023
Paolo Curatolo MD, Romina Moavero MD, Denis Roberto, Federica Graziola Seminars in Pediatric Neurology Volume 22, Issue 4, December 2015, Pages 259-273 Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by the development of widespread hamartomatous lesions in various organs, including brain, skin, kidneys, heart, and eyes.
Paolo, Curatolo, Marina, Trivisano, Nicola, Specchio   +2 more
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Genotype–Phenotype Correlations

2007
The 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 Noonan syndrome

The Journal of Pediatrics, 2004
OBJECTIVE 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, Buheitel, Gernot, Rauch, Ralf, Koenig, Rainer, Bosse, Kirstin, Kress, Wolfram, Tietze, Hans-Ulrich, Doerr, Helmuth-Guenther, Hofbeck, Michael, Singer, Helmut, Reis, André, Rauch, Anita   +11 more
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Genotype/phenotype correlations in familial hypercholesterolaemia

Current Opinion in Lipidology, 1998
It 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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Correlating phenotype and genotype in the periodic paralyses

Neurology, 2004
Periodic 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, DIAS DA SILVA MR, MILLER HA, KWIECINSKI H, MENDELL JR, TAWIL R, MCMANIS P, GRIGGS RC, ANGELINI, CORRADO, SERVIDEI S, PETAJAN J, DALAKAS MC, RANUM LP, FU YH, PTACEK L.J.   +14 more
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Genotypic and Phenotypic Variances and Covariances in Early Maturing Grain Sorghum in a Double Cropping

Plant Production Science, 1999
Genotypic and phenotypic variances, and covariances were estimated among five characteristics of 12 early maturing genotypes of grain sorghum in a double cropping of spring and fall season in Japan.
Tomohiko Yoshida, Nguyen Duy Can
exaly   +2 more sources

Genotype phenotype correlation in achondroplasia and hypochondroplasia

The Journal of Bone and Joint Surgery. British volume, 1998
Recent 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, N, Yasui, T, Kimura, N, Tsumaki, H, Kawabata, T, Ochi   +5 more
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Primary hyperoxaluria: Genotype-phenotype correlation

Journal of Nephrology, 2003
  Primary 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, Martino, Marangella, Antonio, Amoroso   +2 more
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Ultrastructural and Electrophysiological Correlation of the Genotypes of NCL

Molecular Genetics and Metabolism, 1999
Several 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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