Results 301 to 310 of about 536,745 (332)

DUOXS defects: Genotype-phenotype correlations

Annales d'Endocrinologie, 2011
Congenital hypothyroidism (CH) is the most common congenital endocrine disorder, accounting for up to 1:1500 newborns per year. CH can be related to defects in either formation and migration of the thyroid gland (dysgenesis) or thyroid hormone synthesis. The pathogenesis of dysgenetic CH is still largely unknown. On the contrary, several mutations have
L. Fugazzola, M. Muzza, G. Weber, P. Beck Peccoz, L. Persani   +4 more
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Genotype-phenotype correlations in phenylketonuria

Clinica Chimica Acta, 1993
Genotyping of the phenylalanine hydroxylating system offers a new way of characterizing patients with phenylalanine hydroxylase (PAH) deficiency. This paper investigates the power of genotyping as a parameter for differential diagnosis and as a measure of the risk factor of brain damage in well-treated patients with phenylketonuria (PKU).
F K, Trefz, P, Burgard, T, König, B, Goebel-Schreiner, U, Lichter-Konecki, D, Konecki, E, Schmidt, H, Schmidt, H, Bickel   +8 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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Phenotypic correlations in FTDP-17

Neurobiology of Aging, 2001
Frontotemporal dementias with parkinsonism linked to chromosome 17 (FTDP-17) are hereditary tauopathies affecting at least 50 known kindred worldwide. Most kindred present with severe behavioral or psychiatric manifestations progressing to dementia, while some kindred first manifest a parkinsonian-plus syndrome.
L A, Reed, Z K, Wszolek, M, Hutton
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Craniosynostoses: Phenotypic/molecular correlations

American Journal of Medical Genetics, 1995
From 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 in aniridia

American Journal of Ophthalmology, 1998
To detect and characterize mutations in cases of familial and sporadic aniridia in Maritime Canada, and to look for indications of genotype/phenotype correlation within the cohort.Twelve consecutive and unrelated patients (probands) who had total or nearly complete absence of irides, and four affected relatives, were recruited from Maritime Canada ...
S K, Gupta, I, De Becker, F, Tremblay, D L, Guernsey, P E, Neumann   +4 more
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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 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 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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