Results 221 to 230 of about 58,360 (267)

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-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
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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
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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
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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 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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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 ...
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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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