Results 251 to 260 of about 305,611 (291)

Genotype-phenotype correlation in myotonic dystrophy

Clinical Genetics, 1998
Myotonic dystrophy (DM) is caused by a mutation in the length of a trinucleotide (CTG) repeat in the 3' untranslated region of the my‐otonin protein kinase gene located on chromosome 19q13.3. The normal gene has between 5 and 36 CTG trinucleotide repeats, whereas minimally affected individuals have 50 copies and severely affected DM‐patients have ...
E B, Gharehbaghi-Schnell, J, Finsterer, I, Korschineck, B, Mamoli, B R, Binder   +4 more
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Genotype-phenotype correlations in β-thalassemias

Blood Reviews, 1994
In 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, GALANELLO R, ROSATELLI, MARIA CRISTINA   +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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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.
Pirulli, Doroti, Marangella, Martino, Amoroso, Antonio   +2 more
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Genotype–phenotype correlation in colorectal polyposis

Clinical Genetics, 2011
Newton 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., Mallinson, E. K.L., Bowen, J., Lalloo, F., Clancy, T., Hill, J., Evans, D. G.R.   +6 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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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 Correlates in Arrhythmogenic Cardiomyopathies

Current Cardiology Reports, 2022
The 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, 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 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
openaire   +2 more sources