Search Results - "Olschwang, S."

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    The location of constitutional neurofibromatosis 2 (NF2) splice site mutations is associated with the severity of NF2 by Baser, M E, Kuramoto, L, Woods, R, Joe, H, Friedman, J M, Wallace, A J, Ramsden, R T, Olschwang, S, Bijlsma, E, Kalamarides, M, Papi, L, Kato, R, Carroll, J, Lázaro, C, Joncourt, F, Parry, D M, Rouleau, G A, Evans, D G R

    Published in Journal of Medical Genetics (01-07-2005)
    “…Neurofibromatosis 2 (NF2) patients with constitutional splice site NF2 mutations have greater variability in disease severity than NF2 patients with other…”
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    Journal Article Book Review
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    Cancer risk in 348 French MSH2 or MLH1 gene carriers by Parc, Y, Boisson, C, Thomas, G, Olschwang, S

    Published in Journal of medical genetics (01-03-2003)
    “…[...]the absence of significant genotype-phenotype correlation justifies the clinical evaluation of a unique surveillance protocol in the case of MSH2 or MLH1…”
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    Journal Article
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    Peutz-Jeghers families unlinked to STK11/LKB1 gene mutations are highly predisposed to primitive biliary adenocarcinoma by OLSCHWANG, Sylviane, BOISSON, Cécile, THOMAS, Gilles

    Published in Journal of medical genetics (01-06-2001)
    “…Germline mutations of the STK11/LKB1 tumour suppressor gene (19p13.3) are responsible for Peutz-Jeghers syndrome (PJS), a rare genetic disorder, which is…”
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    Journal Article
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    Germline mutations of the APC gene in patients with familial adenomatous polyposis-associated thyroid carcinoma : Results from a european cooperative study by CETTA, F, MONTALTO, G, GORI, M, CURIA, M. C, CAMA, A, OLSCHWANG, S

    “…Papillary thyroid carcinoma (PTC) is one extracolonic manifestation affecting about 1-2% of patients with familial adenomatous polyposis (FAP). Ninety-seven…”
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    Journal Article
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    Frequent intragenic rearrangements of DPYD in colorectal tumours by van Kuilenburg, A B P, Etienne-Grimaldi, M-C, Mahamat, A, Meijer, J, Laurent-Puig, P, Olschwang, S, Gaub, M-P, Hennekam, R C M, Benchimol, D, Houry, S, Letoublon, C, Gilly, F-N, Pezet, D, Andre, T, Faucheron, J-L, Abderrahim-Ferkoune, A, Vijzelaar, R, Pradere, B, Milano, G

    Published in The pharmacogenomics journal (01-06-2015)
    “…Dihydropyrimidine dehydrogenase is a crucial enzyme for the degradation of 5-fluorouracil (5FU). DPYD, which encodes dihydropyrimidine dehydrogenase, is prone…”
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    Journal Article
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    Performance of office hysteroscopy and endometrial biopsy for detecting endometrial disease in women at risk of human non-polyposis colon cancer: a prospective study by Lécuru, F, Le Frère Belda, M A, Bats, A S, Tulpin, L, Metzger, U, Olschwang, S, Laurent-Puig, P

    “…The objective of this study was to report the value of diagnostic hysteroscopy and endometrial biopsy for the detection of complex atypical hyperplasia or…”
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    Journal Article
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    Germline mutation and genome instability by Olschwang, S

    Published in European journal of cancer prevention (01-12-1999)
    “…Colorectal tumorigenesis has been associated with the progressive acquisition of a variety of genomic alterations in neoplastic cells. In 5-10% of cases, a…”
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    Journal Article
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    Turcot syndrome confirmed with molecular analysis by Lebrun, C., Olschwang, S., Jeannin, S., Vandenbos, F., Sobol, H., Frenay, M.

    Published in European journal of neurology (01-04-2007)
    “…Turcot syndrome is clinically characterized by the occurrence of primary brain tumor and colorectal tumor and has, in previous reports, been shown associated…”
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    Journal Article