Aittomäki K - Search Results

1

Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer.

Tomlinson IP, Alam NA, Rowan AJ, Barclay E, Jaeger EE, Kelsell D, Leigh I, Gorman P, Lamlum H, Rahman S, Roylance RR, Olpin S, Bevan S, Barker K, Hearle N, Houlston RS, Kiuru M, Lehtonen R, Karhu A, Vilkki S, Laiho P, Eklund C, Vierimaa O, Aittomäki K, Hietala M, Sistonen P, Paetau A, Salovaara R, Herva R, Launonen V, Aaltonen LA; Multiple Leiomyoma Consortium. Tomlinson IP, et al. Among authors: aittomaki k. Nat Genet. 2002 Apr;30(4):406-10. doi: 10.1038/ng849. Epub 2002 Feb 25. Nat Genet. 2002. PMID: 11865300

2

Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure.

Aittomäki K, Lucena JL, Pakarinen P, Sistonen P, Tapanainen J, Gromoll J, Kaskikari R, Sankila EM, Lehväslaiho H, Engel AR, Nieschlag E, Huhtaniemi I, de la Chapelle A. Aittomäki K, et al. Cell. 1995 Sep 22;82(6):959-68. doi: 10.1016/0092-8674(95)90275-9. Cell. 1995. PMID: 7553856 Free article.

3

Assignment of an Usher syndrome type III (USH3) gene to chromosome 3q.

Sankila EM, Pakarinen L, Kääriäinen H, Aittomäki K, Karjalainen S, Sistonen P, de la Chapelle A. Sankila EM, et al. Among authors: aittomaki k. Hum Mol Genet. 1995 Jan;4(1):93-8. doi: 10.1093/hmg/4.1.93. Hum Mol Genet. 1995. PMID: 7711740

4

p53, CHK2, and CHK1 genes in Finnish families with Li-Fraumeni syndrome: further evidence of CHK2 in inherited cancer predisposition.

Vahteristo P, Tamminen A, Karvinen P, Eerola H, Eklund C, Aaltonen LA, Blomqvist C, Aittomäki K, Nevanlinna H. Vahteristo P, et al. Among authors: aittomaki k. Cancer Res. 2001 Aug 1;61(15):5718-22. Cancer Res. 2001. PMID: 11479205

5

Familial cutaneous leiomyomatosis is a two-hit condition associated with renal cell cancer of characteristic histopathology.

Kiuru M, Launonen V, Hietala M, Aittomäki K, Vierimaa O, Salovaara R, Arola J, Pukkala E, Sistonen P, Herva R, Aaltonen LA. Kiuru M, et al. Among authors: aittomaki k. Am J Pathol. 2001 Sep;159(3):825-9. doi: 10.1016/S0002-9440(10)61757-9. Am J Pathol. 2001. PMID: 11549574 Free PMC article.

6

Few FH mutations in sporadic counterparts of tumor types observed in hereditary leiomyomatosis and renal cell cancer families.

Kiuru M, Lehtonen R, Arola J, Salovaara R, Järvinen H, Aittomäki K, Sjöberg J, Visakorpi T, Knuutila S, Isola J, Delahunt B, Herva R, Launonen V, Karhu A, Aaltonen LA. Kiuru M, et al. Among authors: aittomaki k. Cancer Res. 2002 Aug 15;62(16):4554-7. Cancer Res. 2002. PMID: 12183404

7

Altered expression of MLH1, MSH2, and MSH6 in predisposition to hereditary nonpolyposis colorectal cancer.

Renkonen E, Zhang Y, Lohi H, Salovaara R, Abdel-Rahman WM, Nilbert M, Aittomaki K, Jarvinen HJ, Mecklin JP, Lindblom A, Peltomaki P. Renkonen E, et al. Among authors: aittomaki k. J Clin Oncol. 2003 Oct 1;21(19):3629-37. doi: 10.1200/JCO.2003.03.181. J Clin Oncol. 2003. PMID: 14512394

8

Biallelic inactivation of fumarate hydratase (FH) occurs in nonsyndromic uterine leiomyomas but is rare in other tumors.

Lehtonen R, Kiuru M, Vanharanta S, Sjöberg J, Aaltonen LM, Aittomäki K, Arola J, Butzow R, Eng C, Husgafvel-Pursiainen K, Isola J, Järvinen H, Koivisto P, Mecklin JP, Peltomäki P, Salovaara R, Wasenius VM, Karhu A, Launonen V, Nupponen NN, Aaltonen LA. Lehtonen R, et al. Among authors: aittomaki k. Am J Pathol. 2004 Jan;164(1):17-22. doi: 10.1016/S0002-9440(10)63091-X. Am J Pathol. 2004. PMID: 14695314 Free PMC article.

9

Inherited forms of renal cell carcinoma.

Kiuru M, Kujala M, Aittomäki K. Kiuru M, et al. Among authors: aittomaki k. Scand J Surg. 2004;93(2):103-11. doi: 10.1177/145749690409300204. Scand J Surg. 2004. PMID: 15285561 Review.

10

No germline FH mutations in familial breast cancer patients.

Kiuru M, Lehtonen R, Eerola H, Aittomäki K, Blomqvist C, Nevanlinna H, Aaltonen LA, Launonen V. Kiuru M, et al. Among authors: aittomaki k. Eur J Hum Genet. 2005 Apr;13(4):506-9. doi: 10.1038/sj.ejhg.5201326. Eur J Hum Genet. 2005. PMID: 15523491

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