Aittomäki K - Search Results

1

Mutation screening of fumarate hydratase by multiplex ligation-dependent probe amplification: detection of exonic deletion in a patient with leiomyomatosis and renal cell cancer.

Ahvenainen T, Lehtonen HJ, Lehtonen R, Vahteristo P, Aittomäki K, Baynam G, Dommering C, Eng C, Gruber SB, Grönberg H, Harvima R, Herva R, Hietala M, Kujala M, Kääriäinen H, Sunde L, Vierimaa O, Pollard PJ, Tomlinson IP, Björck E, Aaltonen LA, Launonen V. Ahvenainen T, et al. Among authors: aittomaki k. Cancer Genet Cytogenet. 2008 Jun;183(2):83-8. doi: 10.1016/j.cancergencyto.2008.01.010. Cancer Genet Cytogenet. 2008. PMID: 18503824

2

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

3

Clinical features of primary ovarian failure caused by a point mutation in the follicle-stimulating hormone receptor gene.

Aittomäki K, Herva R, Stenman UH, Juntunen K, Ylöstalo P, Hovatta O, de la Chapelle A. Aittomäki K, et al. J Clin Endocrinol Metab. 1996 Oct;81(10):3722-6. doi: 10.1210/jcem.81.10.8855829. J Clin Endocrinol Metab. 1996. PMID: 8855829

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

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

7

A CHEK2 genetic variant contributing to a substantial fraction of familial breast cancer.

Vahteristo P, Bartkova J, Eerola H, Syrjäkoski K, Ojala S, Kilpivaara O, Tamminen A, Kononen J, Aittomäki K, Heikkilä P, Holli K, Blomqvist C, Bartek J, Kallioniemi OP, Nevanlinna H. Vahteristo P, et al. Among authors: aittomaki k. Am J Hum Genet. 2002 Aug;71(2):432-8. doi: 10.1086/341943. Epub 2002 Jul 28. Am J Hum Genet. 2002. PMID: 12094328 Free PMC article.

8

Effects of follicle-stimulating hormone (FSH) and human chorionic gonadotropin in individuals with an inactivating mutation of the FSH receptor.

Vaskivuo TE, Aittomäki K, Anttonen M, Ruokonen A, Herva R, Osawa Y, Heikinheimo M, Huhtaniemi I, Tapanainen JS. Vaskivuo TE, et al. Among authors: aittomaki k. Fertil Steril. 2002 Jul;78(1):108-13. doi: 10.1016/s0015-0282(02)03148-5. Fertil Steril. 2002. PMID: 12095499 Free article.

9

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

10

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.

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