Unique spectrum of SPAST variants in Estonian HSP patients: presence of benign missense changes but lack of exonic rearrangements

Autor: Gross-Paju Katrin, Lüüs Siiri-Merike, Raukas Elve, Sachez-Ferrero Elena, Beetz Christian, Tamm Riin, Braschinsky Mark, Boillot Catherine, Canzian Federico, Metspalu Andres, Haldre Sulev

Publikováno v: BMC Neurology, Vol 10, Iss 1, p 17 (2010)

Abstract Background Hereditary spastic paraplegia (HSP) is a clinically and genetically heterogeneous disorder that can be an autosomal-dominant, autosomal-recessive, or X-linked disease. The most common autosomal-dominant form of the disease derives

Externí odkaz: https://doaj.org/article/de3428b524b14556bcb84c59b218538d

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Haplotype-Based Analysis of Common Variation in the Acetyl-CoA Carboxylase α Gene and Breast Cancer Risk: A Case-Control Study Nested within the European Prospective Investigation into Cancer and Nutrition.

Autor: Sinilnikova, Olga M., McKay, James D., Tavtigian, Sean V., Canzian, Federico, DeSilva, Deepika, Biessy, Carine, Monnier, Stéphanie, Dossus, Laure, Boillot, Catherine, Gioia, Lydie, Hughes, David J., Jensen, Majken K., Overvad, Kim, Tjonneland, Anne, Olsen, Anja, Clavel-Chapelon, Françoise, Chajès, Véronique, Joulin, Virginie, Linseisen, Jakob, Chang-Claude, Jenny

Publikováno v: Cancer Epidemiology, Biomarkers & Prevention; Mar2007, Vol. 16 Issue 3, p409-415, 7p, 1 Diagram

Genetic variation in the growth hormone synthesis pathway in relation to circulating insulin-like growth factor-I, insulin-like growth factor binding protein-3, and breast cancer risk: results from the European prospective investigation into cancer and nutrition study.

Autor: Canzian F; Hormones and Cancer Team, International Agency for Research on Cancer, 150 cours Albert-Thomas, F-69372 Lyon, France., McKay JD, Cleveland RJ, Dossus L, Biessy C, Boillot C, Rinaldi S, Llewellyn M, Chajès V, Clavel-Chapelon F, Téhard B, Chang-Claude J, Linseisen J, Lahmann PH, Pischon T, Trichopoulos D, Trichopoulou A, Zilis D, Palli D, Tumino R, Vineis P, Berrino F, Bueno-de-Mesquita HB, van Gils CH, Peeters PH, Pera G, Barricarte A, Chirlaque MD, Quirós JR, Larrañaga N, Martínez-García C, Allen NE, Key TJ, Bingham SA, Khaw KT, Slimani N, Norat T, Riboli E, Kaaks R

Publikováno v: Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology [Cancer Epidemiol Biomarkers Prev] 2005 Oct; Vol. 14 (10), pp. 2316-25.