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Multicolor Spectral Karyotyping of Human Chromosomes
The simultaneous and unequivocal discernment of all human chromosomes in different colors would be of significant clinical and biologic importance. Whole-genome scanning by spectral karyotyping… Expand
Cytogenetic analysis by chromosome painting using dop‐pcr amplified flow‐sorted chromosomes
- H. Telenius, B. Ponder, +6 authors R. Pfragner
- Biology, Medicine
- Genes, chromosomes & cancer
- 1 April 1992
A novel polymerase chain reaction (PCR) technique has been combined with chromosome flow sorting to characterise two lymphoblastoid cell lines and one medullary thyroid carcinoma cell line carrying… Expand
Clinical features and natural history of von Hippel-Lindau disease.
- E. Maher, J. Yates, +4 authors M. Ferguson-Smith
- The Quarterly journal of medicine
- 1 November 1990
The clinical features, age at onset and survival of 152 patients with von Hippel-Lindau disease were studied. Mean age at onset was 26.3 years and 97 per cent of patients had presented by aged 60… Expand
Genome analysis of the platypus reveals unique signatures of evolution
This corrects the article DOI: 10.1038/nature06936
Mammalian karyotype evolution
The chromosome complements (karyotypes) of animals display a great diversity in number and morphology. Against this background, the genomes of all species are remarkably conserved, not only in… Expand
Germline mutations in the Von Hippel‐Lindau disease (VHL) gene in families from North America, Europe, and Japan
Germline mutation analysis was performed in 469 VHL families from North America, Europe, and Japan. Germline mutations were identified in 300/469 (63%) of the families tested; 137 distinct intragenic… Expand
Bird-like sex chromosomes of platypus imply recent origin of mammal sex chromosomes.
- F. Veyrunes, P. Waters, +12 authors J. A. Marshall Graves
- Biology, Medicine
- Genome research
- 1 June 2008
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,… Expand
Human centromeric DNAs
Abstract Human centromeres have been extensively studied over the past two decades. Consequently, more is known of centromere structure and organization in humans than in any other higher eukaryote… Expand
Von Hippel-Lindau disease: a genetic study.
Genetic aspects of von Hippel-Lindau (VHL) disease were studied in familial and isolated cases. Complex segregation analysis with pointers was performed in 38 kindreds with two or more affected… Expand
Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1
Multiple self-healing squamous epithelioma (MSSE), also known as Ferguson-Smith disease (FSD), is an autosomal-dominant skin cancer condition characterized by multiple squamous-carcinoma–like locally… Expand