Search Results - "Aaltonen, L"

Diagnostic Cancer Genome Sequencing and the Contribution of Germline Variants by Kilpivaara, O., Aaltonen, L. A.

“…Whole-genome sequencing (WGS) is revolutionizing medical research and has the potential to serve as a powerful and cost-effective diagnostic tool in the…”
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The MDM2 promoter polymorphism SNP309T→G and the risk of uterine leiomyosarcoma, colorectal cancer, and squamous cell carcinoma of the head and neck by Alhopuro, P, Ylisaukko-oja, S K, Koskinen, W J, Bono, P, Arola, J, Järvinen, H J, Mecklin, J-P, Atula, T, Kontio, R, Mäkitie, A A, Suominen, S, Leivo, I, Vahteristo, P, Aaltonen, L-M, Aaltonen, L A

“…Background: MDM2 acts as a principal regulator of the tumour suppressor p53 by targeting its destruction through the ubiquitin pathway. A polymorphism in the…”
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Supragastric belch may be related to globus symptom – a prospective clinical study by Nevalainen, P., Walamies, M., Kruuna, O., Arkkila, P., Aaltonen, L.‐M.

“…Background The etiology of globus is poorly understood. It is controversial, whether gastroesophageal reflux disease (GERD) has a role in globus. To…”
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Patient injuries in operative rhinology during a ten‐year period: Review of national patient insurance charts by Blomgren, K., Aaltonen, L.‐M., Lehtonen, L., Helmiö, P.

“…Objectives To assess factors contributing to patient injuries in operative rhinology. Design Data of the accepted patient injury claims involving operative…”
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Somatic MED12 mutations in uterine leiomyosarcoma and colorectal cancer by Kämpjärvi, K, Mäkinen, N, Kilpivaara, O, Arola, J, Heinonen, H-R, Böhm, J, Abdel-Wahab, O, Lehtonen, H J, Pelttari, L M, Mehine, M, Schrewe, H, Nevanlinna, H, Levine, R L, Hokland, P, Böhling, T, Mecklin, J-P, Bützow, R, Aaltonen, L A, Vahteristo, P

“…Background: Mediator complex participates in transcriptional regulation by connecting regulatory DNA sequences to the RNA polymerase II initiation complex…”
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Long-term Impact of Mode of Delivery on Stress Urinary Incontinence and Urgency Urinary Incontinence: A Systematic Review and Meta-analysis by Tähtinen, Riikka M, Cartwright, Rufus, Tsui, Johnson F, Aaltonen, Riikka L, Aoki, Yoshitaka, Cárdenas, Jovita L, El Dib, Regina, Joronen, Kirsi M, Al Juaid, Sumayyah, Kalantan, Sabreen, Kochana, Michal, Kopec, Malgorzata, Lopes, Luciane C, Mirza, Enaya, Oksjoki, Sanna M, Pesonen, Jori S, Valpas, Antti, Wang, Li, Zhang, Yuqing, Heels-Ansdell, Diane, Guyatt, Gordon H, Tikkinen, Kari A.O

“…Abstract Context Stress urinary incontinence (SUI) and urgency urinary incontinence (UUI) are associated with physical and psychological morbidity, and large…”
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BRAF screening as a low-cost effective strategy for simplifying HNPCC genetic testing by Domingo, E, Laiho, P, Ollikainen, M, Pinto, M, Wang, L, French, A J, Westra, J, Frebourg, T, Espín, E, Armengol, M, Hamelin, R, Yamamoto, H, Hofstra, R M W, Seruca, R, Lindblom, A, Peltomäki, P, Thibodeau, S N, Aaltonen, L A, Schwartz, S

“…Background: According to the international criteria for hereditary non-polyposis colorectal cancer (HNPCC) diagnostics, cancer patients with a family history…”
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m2ABQ—a proposed refinement of the modified algorithm-based qualitative classification of osteoporotic vertebral fractures by Aaltonen, H. L., O’Reilly, M. K., Linnau, K. F., Dong, Q., Johnston, S. K., Jarvik, J. G., Cross, N. M.

“…Summary Currently, there is no reproducible, widely accepted gold standard to classify osteoporotic vertebral body fractures (OVFs). The purpose of this study…”
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Towards better patient safety in otolaryngology: characteristics of patient injuries and their relationship with items on the WHO Surgical Safety Checklist by Helmiö, P., Blomgren, K., Lehtivuori, T., Palonen, R., Aaltonen, L.-M.

“…Objectives Increasing knowledge of factors contributing to medical adverse events has influenced the development of preventive policies and protocols, the WHO…”
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A new quantitative PCR for human parvovirus B19 genotypes by Toppinen, M., Norja, P., Aaltonen, L.-M., Wessberg, S., Hedman, L., Söderlund-Venermo, M., Hedman, K.

“…•For clinical and scientific purposes a new parvovirus B19 (B19V) qPCR was developed.•The qPCR amplifies and quantifies all three B19V genotypes, with high…”
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The prevalence of MADH4 and BMPR1A mutations in juvenile polyposis and absence of BMPR2, BMPR1B, and ACVR1 mutations by Howe, J R, Sayed, M G, Ahmed, A F, Ringold, J, Larsen-Haidle, J, Merg, A, Mitros, F A, Vaccaro, C A, Petersen, G M, Giardiello, F M, Tinley, S T, Aaltonen, L A, Lynch, H T

“…Background: Juvenile polyposis (JP) is an autosomal dominant syndrome predisposing to colorectal and gastric cancer. We have identified mutations in two genes…”
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Differential gene expression in colon cancer of the caecum versus the sigmoid and rectosigmoid by Birkenkamp-Demtroder, K, Olesen, S H, Sørensen, F B, Laurberg, S, Laiho, P, Aaltonen, L A, Ørntoft, T F

“…Background and aims: There are epidemiological, morphological, and molecular differences between normal mucosa as well as between adenocarcinomas of the right…”
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Identification of 33 candidate oncogenes by screening for base-specific mutations by Tuupanen, S, Hänninen, U A, Kondelin, J, von Nandelstadh, P, Cajuso, T, Gylfe, A E, Katainen, R, Tanskanen, T, Ristolainen, H, Böhm, J, Mecklin, J-P, Järvinen, H, Renkonen-Sinisalo, L, Andersen, C L, Taipale, M, Taipale, J, Vahteristo, P, Lehti, K, Pitkänen, E, Aaltonen, L A

“…Background: Genes with recurrent codon-specific somatic mutations are likely drivers of tumorigenesis and potential therapeutic targets. Hypermutable cancers…”
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Association of breathing sound spectra with glottal dimensions in exercise-induced vocal cord dysfunction by Geneid, Ahmed, Aaltonen, L.-M., Porra, L., Peltonen, J., Palmu, K., Sovijärvi, A., Piirilä, P.

“…The objective of this study was to evaluate associations between the breathing sound spectra and glottal dimensions in exercise-induced vocal cord dysfunction…”
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Mutation analysis of components of the Mediator kinase module in MED12 mutation-negative uterine leiomyomas by Mäkinen, N, Heinonen, H-R, Sjöberg, J, Taipale, J, Vahteristo, P, Aaltonen, L A

“…Background: Kinase module of Mediator complex (‘CDK8 submodule’) consists of four subunits: CDK8, Cyclin C, MED12, and MED13. Recently, we reported recurrent…”
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Limited long‐term outcome of single‐session soft palate interstitial radiofrequency surgery for habitual snoring in tertiary care academic referral centre: Our experience on 77 patients by Sinkkonen, S. T., Ruohoalho, J., Pietarinen, P., Aaltonen, L.‐M., Mäkitie, A. A., Bäck, L. J.

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Cancer risk in hereditary nonpolyposis colorectal cancer syndrome: later age of onset by Hampel, Heather, Stephens, Julie A, Pukkala, Eero, Sankila, Risto, Aaltonen, Lauri A, Mecklin, Jukka-Pekka, de la Chapelle, Albert

“…Mutations in the mismatch repair genes cause hereditary nonpolyposis colorectal cancer (HNPCC) syndrome and convey high lifetime cancer risks for colorectal…”
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Increased risk of cancer in patients with fumarate hydratase germline mutation by Lehtonen, H J, Kiuru, M, Ylisaukko-oja, S K, Salovaara, R, Herva, R, Koivisto, P A, Vierimaa, O, Aittomäki, K, Pukkala, E, Launonen, V, Aaltonen, L A

“…Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a tumour predisposition syndrome caused by heterozygous germline mutations in the fumarate hydratase…”
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A large-scale meta-analysis to refine colorectal cancer risk estimates associated with MUTYH variants by Theodoratou, E, Campbell, H, Tenesa, A, Houlston, R, Webb, E, Lubbe, S, Broderick, P, Gallinger, S, Croitoru, E M, Jenkins, M A, Win, A K, Cleary, S P, Koessler, T, Pharoah, P D, Küry, S, Bézieau, S, Buecher, B, Ellis, N A, Peterlongo, P, Offit, K, Aaltonen, L A, Enholm, S, Lindblom, A, Zhou, X-L, Tomlinson, I P, Moreno, V, Blanco, I, Capellà, G, Barnetson, R, Porteous, M E, Dunlop, M G, Farrington, S M

“…Background: Defective DNA repair has a causal role in hereditary colorectal cancer (CRC). Defects in the base excision repair gene MUTYH are responsible for…”
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Zero-Rate Output and Quadrature Compensation in Vibratory MEMS Gyroscopes by Saukoski, M., Aaltonen, L., Halonen, K.A.I.

“…In this paper, issues related to the zero-rate output (ZRO) of a vibratory microgyroscope are studied. Different sources of the ZRO are discussed and how the…”
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