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Venezuelan kindreds reveal that genetic and environmental factors modulate Huntington's disease age of onset.
Huntington's disease (HD) is an autosomal dominant neurodegenerative disease caused by a triplet (CAG) expansion mutation. The length of the triplet repeat is the most important factor in determiningExpand
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Heterogeneous duplications in patients with Pelizaeus-Merzbacher disease suggest a mechanism of coupled homologous and nonhomologous recombination.
We describe genomic structures of 59 X-chromosome segmental duplications that include the proteolipid protein 1 gene (PLP1) in patients with Pelizaeus-Merzbacher disease. We provide the first reportExpand
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Urorectal septum malformation sequence. Report of six cases and embryological analysis.
We encountered six female infants with a specific pattern of developmental abnormalities of the urogenital and lower intestinal tracts. The anomalies included ambiguous genitalia, lack of perinealExpand
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Genomic rearrangements resulting in PLP1 deletion occur by nonhomologous end joining and cause different dysmyelinating phenotypes in males and females.
In the majority of patients with Pelizaeus-Merzbacher disease, duplication of the proteolipid protein gene PLP1 is responsible, whereas deletion of PLP1 is infrequent. Genomic mechanisms for theseExpand
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Longitudinal cognitive and motor changes among presymptomatic Huntington disease gene carriers.
OBJECTIVE To determine whether longitudinal changes in cognitive and motor function can be detected among clinically presymptomatic individuals carrying the Huntington disease (HD) allele. DESIGN AExpand
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DNA banking: the effects of storage of blood and isolated DNA on the integrity of DNA.
Long-term storage of DNA is required for a number of genetic studies; prior to extraction, blood samples may be subject to elevated temperatures for variable intervals. We have studied the effect ofExpand
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Mutant prion proteins in Gerstmann-Sträussler-Scheinker disease with neurofibrillary tangles
Two families with Gerstmann-Sträussler-Scheinker disease (GSS) are atypical in possessing neocortical neurofibrillary tangles (NFTs), which are few or absent in other kindreds with GSS, in additon toExpand
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Clinical experience with trisomies 18 and 13.
The clinical, cytogenetic, dermatoglyphic, and postmortem observations of the 29 cases of trisomy 18 and 19 cases of trisomy 13 seen in the Department of Medical Genetics from 1963-76 are summarised.Expand
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Subtle changes among presymptomatic carriers of the Huntington's disease gene
OBJECTIVES To compare the neurological and psychometric characteristics of presymptomatic gene carriers and non-gene carriers who are at risk for developing Huntington's disease so as to characteriseExpand
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Transmission of a balanced homologous t(22q;22q) translocation from mother to normal daughter
The transmission of a t(22q;22q) translocation is reported. The mother had had multiple miscarriages and carried both t(22q;22q) and t(22p;22p) portions of the rearrangement in a portion of herExpand
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