Zobrazeno 1 - 10 of 573 pro vyhledávání: '"Er, Maher"'
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Analysis of germline CDKN1C (p57KIP2) mutations in familial and sporadic Beckwith-Wiedemann syndrome (BWS) provides a novel genotype-phenotype correlation
Autor: Ww, Lam, Hatada I, Ohishi S, Mukai T, Ja, Joyce, Tr, Cole, Donnai D, Reik W, Pn, Schofield, Er, Maher
Publikováno v: Europe PubMed Central
Beckwith-Wiedemann syndrome (BWS) is a human imprinting disorder with a variable phenotype. The major features are anterior abdominal wall defects including exomphalos (omphalocele), pre- and postnatal overgrowth, and macroglossia. Additional less fr
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::036a25b8a4bcf4723b454faedf2e4631
https://pubmed.ncbi.nlm.nih.gov/10424811
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4
A common MSH2 mutation in English and North American HNPCC families: origin, phenotypic expression, and sex specific differences in colorectal cancer
Autor: Nj, Froggatt, Green J, Brassett C, Gareth Evans, Dt, Bishop, Kolodner R, Er, Maher
Publikováno v: Europe PubMed Central
The frequency, origin, and phenotypic expression of a germline MSH2 gene mutation previously identified in seven kindreds with hereditary non-polyposis cancer syndrome (HNPCC) was investigated. The mutation (A→T at nt943+3) disrupts the 3' splice s
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::38f417c8e373adc127ba29283ec988f5
https://pubmed.ncbi.nlm.nih.gov/10051005
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SOMATIC MUTATIONS OF THE VON HIPPEL-LINDAU DISEASE TUMOR-SUPPRESSOR GENE IN NONFAMILIAL CLEAR-CELL RENAL-CARCINOMA
Autor: Foster, K., Prowse, A., Anke van den Berg, Fleming, S., MMF HULSBEEK, PA CROSSEY, FM RICHARDS, Cairns, P., MA FERGUSONSMITH, CHCM BUYS, ER MAHER
Publikováno v: Human Molecular Genetics, 3(12), 2169-2173. Oxford University Press
University of Groningen
Loss of heterozygosity (LOH) studies have suggested that somatic mutations of a tumour suppressor gene or genes on chromosome 3p are a critical event in the pathogenesis of non-familial renal cell carcinoma (RCC). Germline mutations of the von Hippel
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::ec20db670f8d2bf2f8e39d1f8ca08078
https://research.rug.nl/en/publications/25e85651-3f94-49ca-a1c4-1412502ffbaa
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7
Ophthalmological screening for von Hippel-Lindau disease
Autor: ER Maher, Anthony T. Moore, Zdenek J. Gregor, Paul Rosen, Alan C. Bird
Publikováno v: Eye (London, England). 5
Forty seven individuals (from 16 kindreds) without prior evidence of retinal hae-mangiomas underwent full ophthalmological assessment as part of a comprehensive screening programme for Von Hippel-Lindau disease. Ten were known to be affected on the b
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bba32cd3216aeef37d86673aa67870bd
https://pubmed.ncbi.nlm.nih.gov/1800174
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