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Multicolor Spectral Karyotyping of Human Chromosomes
TLDR
Whole-genome scanning by spectral karyotyping allowed instantaneous visualization of defined emission spectra for each human chromosome after fluorescence in situ hybridization, and all human chromosomes were simultaneously identified.
Clinical features and natural history of von Hippel-Lindau disease.
TLDR
A comprehensive screening protocol for affected patients and at-risk relatives is presented, based on detailed analysis of age at onset data for each of the major complications of von Hippel-Lindan disease.
Cytogenetic analysis by chromosome painting using dop‐pcr amplified flow‐sorted chromosomes
TLDR
This study shows that flow sorting of aberrant chromosomes and chromosome painting can be used as a rapid aid to cytogenetic analysis, particularly in cases of difficult karyotypes, such as tumours.
Mammalian karyotype evolution
TLDR
This work discusses how chromosome rearrangements come about, and shows how their analysis can determine the evolutionary relationships of all mammals and their descent from a common ancestor.
Germline mutations in the Von Hippel‐Lindau disease (VHL) gene in families from North America, Europe, and Japan
TLDR
The catalog of VHL germline mutations with phenotype information should be useful for diagnostic and prognostic studies of V HL and for studies of genotype‐phenotype correlations in VHL.
Genome analysis of the platypus reveals unique signatures of evolution
TLDR
This corrects the article to show that the method used to derive the H2O2 “spatially aggregating force” is based on a two-step process, not a single step, like in the previous version of this paper.
Bird-like sex chromosomes of platypus imply recent origin of mammal sex chromosomes.
In therian mammals (placentals and marsupials), sex is determined by an XX female: XY male system, in which a gene (SRY) on the Y affects male determination. There is no equivalent in other amniotes,
Von Hippel-Lindau disease: a genetic study.
TLDR
Genetic aspects of von Hippel-Lindau (VHL) disease were studied in familial and isolated cases and found no significant association between parental age or birth order and new mutations for VHL disease.
Human centromeric DNAs
TLDR
An overview of currently identified human centromeres: their discoveries, molecular characterization, and organization with respect to other centromeric repetitive DNA families is presented.
Translocation of c-abl oncogene correlates with the presence of a Philadelphia chromosome in chronic myelocytic leukaemia
TLDR
Two CML patients with complex translations, t(9; 11; 22) and t(1; 9; 22), and two CML Ph1-negative patients with apparently normal karyotypes are studied to investigate the significance of the translocation of the c-abl gene in the pathogenesis of CML.
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