Results 161 to 170 of about 129,912 (210)

Auditory genotype-phenotype correlation of patients with variants in STRC. [PDF]

Sci Rep
Cheon TU, Joo SY, Kim SH, Choi JY, Won D, Gee HY, Jung J.   +6 more
europepmc   +1 more source

Genetic insights into hepatocellular carcinoma: the role of VDR FokI (rs2228570) and TaqI (rs731236) polymorphisms in Egyptian patients. [PDF]

BMC Med Genomics
Alrdahe SS, Darwish DBE, Albalawi AE, Omran AME, Almasaudi NM, Elsaid AM, Youssef MM.   +6 more
europepmc   +1 more source

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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
openaire   +3 more sources

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/
Barbara Bauce, Andrea Nava
openaire   +3 more sources

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 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
openaire   +2 more sources

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
openaire   +2 more sources

Genotype-environment correlation and IQ

Behavior Genetics, 1987
The estimation of various forms of genotype-environment (GE) correlation is considered. Two methods of estimating “passive” GE correlation from adoption studies are presented and illustrated with IQ data from five adoption studies. One method involves comparison of variances in adoptive and nonadoptive families, whereas the other compares parent-child ...
J C, Loehlin, J C, DeFries
openaire   +2 more sources

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 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
openaire   +3 more sources