Results 291 to 300 of about 8,412,468 (340)

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

Genetic contribution to the phenotypic correlation between trait impulsivity and resting-state functional connectivity of the amygdala and its subregions

NeuroImage, 2019
Trait impulsivity, a predisposition to respond to stimuli without regard for the potentially negative consequences, contributes to many maladaptive behaviors. Studies have shown that both genetic factors and interregional functional interactions underlie
Dang Zheng, Jie Chen, Xiao-Ming Wang, Yuan Zhou   +3 more
semanticscholar   +1 more source

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

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

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

Phenotypic diversity and correlation with the genotypes of pseudohypoaldosteronism type 1

Journal of Pediatric Endocrinology & Metabolism (JPEM), 2019
Background Type I pseudohypoaldosteronism (PHA1) is a rare condition characterised by profound salt wasting, hyperkalaemia and metabolic acidosis due to renal tubular resistance to aldosterone (PHA1a) or defective sodium epithelial channels (PHA1b or ...
J. S. Gopal-Kothandapani, Arpan B Doshi, Kath Smith, M. Christian, T. Mushtaq, I. Banerjee, R. Padidela, R. Ramakrishnan, C. Owen, Timothy Cheetham, P. Dimitri   +10 more
semanticscholar   +1 more source

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 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

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 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 ...
openaire   +2 more sources