Results 261 to 270 of about 63,568 (308)

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
openaire   +2 more sources

Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype

Genetics in Medicine, 2013
Purpose: Wolfram syndrome is a degenerative, recessive rare disease with an onset in childhood. It is caused by mutations in WFS1 or CISD2 genes. More than 200 different variations in WFS1 have been described in patients with Wolfram syndrome, which ...
MIGUEL Lopez De Heredia, Ramon Clèries, Virginia Nunes   +2 more
exaly   +2 more sources

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

Evaluation of the Genotypic Prediction of HIV-1 Coreceptor Use versus a Phenotypic Assay and Correlation with the Virological Response to Maraviroc: the ANRS GenoTropism Study

Antimicrobial Agents and Chemotherapy, 2010
Genotypic algorithms for prediction of HIV-1 coreceptor usage need to be evaluated in a clinical setting. We aimed at studying (i) the correlation of genotypic prediction of coreceptor use in comparison with a phenotypic assay and (ii) the relationship ...
Patricia Recordon-Pinson, Philippe Flandre, Charlotte Charpentier   +2 more
exaly   +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

The genotype–phenotype correlation in Pompe disease

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 2012
AbstractPompe disease is an autosomal recessive lysosomal glycogen storage disorder that is caused by acid α‐glucosidase (GAA) deficiency and is due to pathogenic sequence variations in the corresponding GAA gene. The correlation between genotypes and phenotypes is strict, in that patients with the most severe phenotype, classic infantile Pompe disease,
Haan, Marian, Hoogeveen - Westerveld, Marianne, van der Ploeg, Ans, Reuser, Arnold   +3 more
openaire   +3 more sources

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 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
openaire   +2 more sources

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

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
openaire   +3 more sources