User profiles for "author:M A Ferguson-Smith"

Malcolm A. Ferguson-Smith

Emeritus 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 …

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 …

Human centromeric dnas

C Lee, R Wevrick, RB Fisher, MA Ferguson-Smith… - Human genetics, 1997 - Springer
Human centromeres have been extensively studied over the past two decades.
Consequently, more is known of centromere structure and organization in humans than in …

Identification of the von Hippel-Lindau disease tumor suppressor gene

F Latif, K Tory, J Gnarra, M Yao, FM Duh, ML Orcutt… - Science, 1993 - science.org
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 …

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 …

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 …

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 …

Von Hippel-Lindau disease: a genetic study.

ER Maher, L Iselius, JR Yates, M Littler… - Journal of medical …, 1991 - jmg.bmj.com
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 …

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 …

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 …