1,721,101 research outputs found
CNV and nervous system diseases - what's new?
Full text linkSeveral new genomic disorders caused by copy number variation (CNV) of genes whose dosage is critical for the physiological function of the nervous system have been recently identified. Dup(7)(q11.23) patients carry duplications of the genomic region deleted in Williams-Beuren syndrome, they are characterized by prominent speech delay. The phenotypes of Potocki-Lupski syndrome and MECP2 duplication syndrome were neuropsychologically examined in detail, which revealed autism as an endophenotype and a prominent behavioral feature of these disorders. Tandem duplication of LMNB1 was reported to cause adult-onset autosomal dominant leukodystrophy. PAFAH1B1/LIS1 and YWHAE, which were deleted in isolated lissencephaly (PAFAH1B1/LIS1 alone) and Miller-Dieker syndrome (both genes), were found to be duplicated in patients with developmental delay. Finally, two novel microdeletion syndromes affecting 17q21.31 and 15q13.3, as well as their reciprocal duplications, were also identified. In this review, we provide an overview of the phenotypic manifestation of these syndromes and the rearrangements causing them. Copyright (C) 2009 S. Karger AG, Base
Isolation of a polymorphic DNA sequence (LL101) from the short arm of chromosome 17 [D17S251].
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Defining the breakpoints of proximal chromosome 14q rearrangements from a panel of patients with the use of flow sorted chromosome.
No full textIsolation of a polymorphic DNA sequence (LL101) from the short arm of chromosome 17 [D17S251].
No full text
DHPLC analysis of unrelated CMT patients in the Myotubularin related 2 gene, MTMR2, responsible for Charcot-Marie-Tooth disease type 4B
No full textIsolation of a polymorphic DNA sequence (LL101) from the short arm of chromosome 17 [D17S251].
No full text
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