User profiles for "author:M A Ferguson-Smith"
Malcolm A. Ferguson-SmithEmeritus Professor of Pathology, Cambridge University Verified email at cam.ac.uk Cited by 44191 |
Karyotype-phenotype correlations in gonadal dysgenesis and their bearing on the pathogenesis of malformations
MA Ferguson-Smith - Journal of Medical Genetics, 1965 - ncbi.nlm.nih.gov
Materials and Methods By convention, the term gonadal dysgenesis has become restricted
to Turner's syndrome and its variants, though it might be correctly applied to all cases of …
to Turner's syndrome and its variants, though it might be correctly applied to all cases of …
Mammalian karyotype evolution
MA Ferguson-Smith, V Trifonov - Nature Reviews Genetics, 2007 - nature.com
The chromosome complements (karyotypes) of animals display a great diversity in number
and morphology. Against this background, the genomes of all species are remarkably …
and morphology. Against this background, the genomes of all species are remarkably …
Human centromeric dnas
Human centromeres have been extensively studied over the past two decades.
Consequently, more is known of centromere structure and organization in humans than in …
Consequently, more is known of centromere structure and organization in humans than in …
Identification of the von Hippel-Lindau disease tumor suppressor gene
A gene discovered by positional cloning has been identified as the von Hippel-Lindau (VHL)
disease tumor suppressor gene. A restriction fragment encompassing the gene showed …
disease tumor suppressor gene. A restriction fragment encompassing the gene showed …
Translocation of c-abl oncogene correlates with the presence of a Philadelphia chromosome in chronic myelocytic leukaemia
CR Bartram, A de Klein, A Hagemeijer, T van Agthoven… - Nature, 1983 - nature.com
The localization of cellular oncogenes near the break points of tumour-specific chromosomal
aberrations suggests an involvement of these genes in the generation of neoplasms1, 2 …
aberrations suggests an involvement of these genes in the generation of neoplasms1, 2 …
Clinical features and natural history of von Hippel-Lindau disease
ER Maher, JRW Yates, R Harries… - … Journal of Medicine, 1990 - academic.oup.com
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 …
disease were studied. Mean age at onset was 26.3 years and 97 per cent of patients had …
Multicolor spectral karyotyping of human chromosomes
E Schröck, S Du Manoir, T Veldman, B Schoell… - Science, 1996 - science.org
The simultaneous and unequivocal discernment of all human chromosomes in different
colors would be of significant clinical and biologic importance. Whole-genome scanning by …
colors would be of significant clinical and biologic importance. Whole-genome scanning by …
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 …
cases. Complex segregation analysis with pointers was performed in 38 kindreds with two or …
Cytogenetic analysis by chromosome painting using DOP‐PCR amplified flow‐sorted chromosomes
HÅK Telenius, BAJ Ponder… - Genes …, 1992 - Wiley Online Library
A novel polymerase chain reaction (PCR) technique has been combined with chromosome
flow sorting to characterise two lymphoblastoid cell lines and one medullary thyroid …
flow sorting to characterise two lymphoblastoid cell lines and one medullary thyroid …
Germline mutations in the Von Hippel‐Lindau disease (VHL) gene in families from North America, Europe, and Japan
B Zbar, T Kishida, F Chen, L Schmidt… - Human …, 1996 - Wiley Online Library
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 …
and Japan. Germline mutations were identified in 300/469 (63%) of the families tested; 137 …