LINE-1 hypomethylation in familial and sporadic cancer

por Pavicic, Walter, Joensuu, Emmi I., Nieminen, Taina, Peltomäki, Päivi
Publicado 2012

Pseudoexons provide a mechanism for allele-specific expression of APC in familial adenomatous polyposis

por Nieminen, Taina T., Pavicic, Walter, Porkka, Noora, Kankainen, Matti, Järvinen, Heikki J., Lepistö, Anna, Peltomäki, Päivi
Publicado 2016

Sequencing of Lynch syndrome tumors reveals the importance of epigenetic alterations

por Porkka, Noora, Valo, Satu, Nieminen, Taina T., Olkinuora, Alisa, Mäki-Nevala, Satu, Eldfors, Samuli, Peltomäki, Päivi
Publicado 2017

Molecular Basis of Mismatch Repair Protein Deficiency in Tumors from Lynch Suspected Cases with Negative Germline Test Results

por Olkinuora, Alisa, Gylling, Annette, Almusa, Henrikki, Eldfors, Samuli, Lepistö, Anna, Mecklin, Jukka-Pekka, Nieminen, Taina Tuulikki, Peltomäki, Päivi
Publicado 2020

Biallelic germline nonsense variant of MLH3 underlies polyposis predisposition

por Olkinuora, Alisa, Nieminen, Taina T., Mårtensson, Emma, Rohlin, Anna, Ristimäki, Ari, Koskenvuo, Laura, Lepistö, Anna, Gebre-Medhin, Samuel, Nordling, Margareta, Peltomäki, Päivi
Publicado 2018

A novel essential splice site variant in SPTB in a large hereditary spherocytosis family

por Nieminen, Taina T., Liyanarachchi, Sandya, Comiskey, Daniel F., Wang, Yanqiang, Li, Wei, Hendrickson, Isabella V., Brock, Pamela, de la Chapelle, Albert, He, Huiling
Publicado 2021

Breast carcinoma and Lynch syndrome: molecular analysis of tumors arising in mutation carriers, non-carriers, and sporadic cases

por Lotsari, Johanna E, Gylling, Annette, Abdel-Rahman, Wael M, Nieminen, Taina T, Aittomäki, Kristiina, Friman, Marjukka, Pitkänen, Reino, Aarnio, Markku, Järvinen, Heikki J, Mecklin, Jukka-Pekka, Kuopio, Teijo, Peltomäki, Päivi
Publicado 2012

Germline Mutation of RPS20, Encoding a Ribosomal Protein, Causes Predisposition to Hereditary Nonpolyposis Colorectal Carcinoma Without DNA Mismatch Repair Deficiency

por Nieminen, Taina T., O’Donohue, Marie-Françoise, Wu, Yunpeng, Lohi, Hannes, Scherer, Stephen W., Paterson, Andrew D., Ellonen, Pekka, Abdel-Rahman, Wael M., Valo, Satu, Mecklin, Jukka-Pekka, Järvinen, Heikki J., Gleizes, Pierre-Emmanuel, Peltomäki, Päivi
Publicado 2014

Identification of DHX40 as a candidate susceptibility gene for colorectal and hematological neoplasia

por Olkinuora, Alisa, Nieminen, Taina T., Douglas, Suvi, Kauppinen, Anni, Kontro, Mika, Väänänen, Juho, Kankainen, Matti, Ristimäki, Ari, Mäkinen, Markus, Lahermo, Päivi, Heckman, Caroline, Saarela, Janna, Salonen, Milla, Lepistö, Anna, Järvinen, Heikki, Mecklin, Jukka-Pekka, Kilpivaara, Outi, Wartiovaara-Kautto, Ulla, Porkka, Kimmo, Peltomäki, Päivi
Publicado 2023

Mono- and biallelic germline variants of DNA glycosylase genes in colon adenomatous polyposis families from two continents

por Olkinuora, Alisa Petriina, Mayordomo, Andrea Constanza, Kauppinen, Anni Katariina, Cerliani, María Belén, Coraglio, Mariana, Collia, Ávila Karina, Gutiérrez, Alejandro, Alvarez, Karin, Cassana, Alessandra, Lopéz-Köstner, Francisco, Jauk, Federico, García-Rivello, Hernán, Ristimäki, Ari, Koskenvuo, Laura, Lepistö, Anna, Nieminen, Taina Tuulikki, Vaccaro, Carlos Alberto, Pavicic, Walter Hernán, Peltomäki, Päivi
Publicado 2022