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10.1002/ajmg.1320600605.abs Although schizophrenia clusters in families, it is not inherited in Mendelian fashion. This suggests that there may be alternative phenotypic expressions of genes that convey risk for schizophrenia, such as more elementary physiological or biochemical defects. One...
10.1002/ajmg.1320600606.abs Familial amyloidotic polyneuropathy (FAP‐type I) was first described in Portugal by Andrade in 1952, a time when 54 among 64 patients (belonging to 25 families) originated from Póvoa do Varzim or its surrounding districts. Since then, a total of 1,233 patients,...
10.1002/ajmg.1320600617.abs Apoliprotein E, type ϵ4 allele (ApoE‐ϵ4) is associated with late‐onset sporadic Alzheimer's disease (AD). We have found that the cumulative probability of remaining unaffected over time decreases for each dose of ApoE‐ϵ4 in sporadic, late‐onset French AD....
10.1002/ajmg.1320600603.abs To understand the implications of suboptimal gene expression in fragile X syndrome (fra(X)), we sought to define the central nervous abnormalities in fra(X) syndrome to determine if abnormalities in specific brain regions or networks might explain the cognitive and...
10.1002/ajmg.1320600609.abs A recent report of a possible linkage of bipolar affective disorder to a pericentric region of chromosome 18 initiated the present investigation to search for a similar linkage in 32 families with schizophrenia. The results of a study using 5 markers mapped to this...
10.1002/ajmg.1320600618.abs The polymorphic allele of the monoamine oxidase B (MAO‐B) gene detected by polymerase chain reaction (PCR) and single‐stranded conformation polymorphism (SSCP) was associated with Parkinson's disease (PD) in Caucasians. We characterized this polymorphic allele,...
10.1002/ajmg.1320600611.abs We have examined the hypothesis that a variable number of tandem repeats in the third cytoplasmic loop of the dopamine D4 receptor influences clinical response to clozapine using a sample of 189 schizophrenic patients. Alleles of the 48‐bp repeat, which range from...
10.1002/ajmg.1320600619.abs Attention deficit disorder (ADHD) is a complex biobehavioral phenotype which affects up to 8% of the general population and often impairs social, academic, and job performance. Its origins are heterogeneous, but a significant genetic component is suggested by family...
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