Winqvist R - Search Results

1

BRCA1 mislocalization leads to aberrant DNA damage response in heterozygous ABRAXAS1 mutation carrier cells.

Bose M, Sachsenweger J, Laurila N, Parplys AC, Willmann J, Jungwirth J, Groth M, Rapakko K, Nieminen P, Friedl TWP, Heiserich L, Meyer F, Tuppurainen H, Peltoketo H, Nevanlinna H, Pylkäs K, Borgmann K, Wiesmüller L, Winqvist R, Pospiech H. Bose M, et al. Among authors: winqvist r. Hum Mol Genet. 2019 Dec 15;28(24):4148-4160. doi: 10.1093/hmg/ddz252. Hum Mol Genet. 2019. PMID: 31630195

2

The gene for 17 beta-hydroxysteroid dehydrogenase maps to human chromosome 17, bands q12-q21, and shows an RFLP with ScaI.

Winqvist R, Peltoketo H, Isomaa V, Grzeschik KH, Mannermaa A, Vihko R. Winqvist R, et al. Hum Genet. 1990 Oct;85(5):473-6. doi: 10.1007/BF00194219. Hum Genet. 1990. PMID: 1977681

3

A new RFLP with StuI and probe cX55.7 (DXS105) and its usefulness in carrier analysis of fragile X syndrome.

Rekilä AM, Väisänen ML, Kähkönen M, Leisti J, Winqvist R. Rekilä AM, et al. Among authors: winqvist r. Hum Genet. 1988 Oct;80(2):193. doi: 10.1007/BF00702869. Hum Genet. 1988. PMID: 2902001

4

Improved carrier testing for multiple endocrine neoplasia, type 1, using new microsatellite-type DNA markers.

Kytölä S, Leisti J, Winqvist R, Salmela P. Kytölä S, et al. Among authors: winqvist r. Hum Genet. 1995 Oct;96(4):449-53. doi: 10.1007/BF00191805. Hum Genet. 1995. PMID: 7557969

5

A point mutation in the putative TATA box, detected in nondiseased individuals and patients with hereditary breast cancer, decreases promoter activity of the 17 beta-hydroxysteroid dehydrogenase type 1 gene 2 (EDH17B2) in vitro.

Peltoketo H, Piao Y, Mannermaa A, Ponder BA, Isomaa V, Poutanen M, Winqvist R, Vihko R. Peltoketo H, et al. Among authors: winqvist r. Genomics. 1994 Sep 1;23(1):250-2. doi: 10.1006/geno.1994.1487. Genomics. 1994. PMID: 7829082

6

Human familial and sporadic breast cancer: analysis of the coding regions of the 17 beta-hydroxysteroid dehydrogenase 2 gene (EDH17B2) using a single-strand conformation polymorphism assay.

Mannermaa A, Peltoketo H, Winqvist R, Ponder BA, Kiviniemi H, Easton DF, Poutanen M, Isomaa V, Vihko R. Mannermaa A, et al. Among authors: winqvist r. Hum Genet. 1994 Mar;93(3):319-24. doi: 10.1007/BF00212030. Hum Genet. 1994. PMID: 8125484

7

Germ-line TP53 mutations in Finnish cancer families exhibiting features of the Li-Fraumeni syndrome and negative for BRCA1 and BRCA2.

Huusko P, Castrén K, Launonen V, Soini Y, Pääkkönen K, Leisti J, Vähäkangas K, Winqvist R. Huusko P, et al. Among authors: winqvist r. Cancer Genet Cytogenet. 1999 Jul 1;112(1):9-14. doi: 10.1016/s0165-4608(98)00258-1. Cancer Genet Cytogenet. 1999. PMID: 10432928

8

Multiple founder effects and geographical clustering of BRCA1 and BRCA2 families in Finland.

Sarantaus L, Huusko P, Eerola H, Launonen V, Vehmanen P, Rapakko K, Gillanders E, Syrjäkoski K, Kainu T, Vahteristo P, Krahe R, Pääkkönen K, Hartikainen J, Blomqvist C, Löppönen T, Holli K, Ryynänen M, Bützow R, Borg A, Wasteson Arver B, Holmberg E, Mannermaa A, Kere J, Kallioniemi OP, Winqvist R, Nevanlinna H. Sarantaus L, et al. Among authors: winqvist r. Eur J Hum Genet. 2000 Oct;8(10):757-63. doi: 10.1038/sj.ejhg.5200529. Eur J Hum Genet. 2000. PMID: 11039575

9

Germline TP53 alterations in Finnish breast cancer families are rare and occur at conserved mutation-prone sites.

Rapakko K, Allinen M, Syrjäkoski K, Vahteristo P, Huusko P, Vähäkangas K, Eerola H, Kainu T, Kallioniemi OP, Nevanlinna H, Winqvist R. Rapakko K, et al. Among authors: winqvist r. Br J Cancer. 2001 Jan 5;84(1):116-9. doi: 10.1054/bjoc.2000.1530. Br J Cancer. 2001. PMID: 11139324 Free PMC article.

10

Exclusion of large deletions and other rearrangements in BRCA1 and BRCA2 in Finnish breast and ovarian cancer families.

Lahti-Domenici J, Rapakko K, Pääkkönen K, Allinen M, Nevanlinna H, Kujala M, Huusko P, Winqvist R. Lahti-Domenici J, et al. Among authors: winqvist r. Cancer Genet Cytogenet. 2001 Sep;129(2):120-3. doi: 10.1016/s0165-4608(01)00437-x. Cancer Genet Cytogenet. 2001. PMID: 11566341

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