Constitutional mosaicism for a BRCA2 mutation as a cause of early-onset breast cancer

di Alhopuro, Pia, Vainionpää, Reetta, Anttonen, Anna-Kaisa, Aittomäki, Kristiina, Nevanlinna, Heli, Pöyhönen, Minna
Pubblicato in Fam Cancer (2020)

Detection of KRAS mutations in liquid biopsies from metastatic colorectal cancer patients using droplet digital PCR, Idylla, and next generation sequencing

di Holm, Matilda, Andersson, Emma, Osterlund, Emerik, Ovissi, Ali, Soveri, Leena-Maija, Anttonen, Anna-Kaisa, Kytölä, Soili, Aittomäki, Kristiina, Osterlund, Pia, Ristimäki, Ari
Pubblicato in PLoS One (2020)

Breakpoint mapping and haplotype analysis of translocation t(1;12)(q43;q21.1) in two apparently independent families with vascular phenotypes

di Luukkonen, Tiia Maria, Mehrjouy, Mana M., Pöyhönen, Minna, Anttonen, Anna‐Kaisa, Lahermo, Päivi, Ellonen, Pekka, Paulin, Lars, Tommerup, Niels, Palotie, Aarno, Varilo, Teppo
Pubblicato in Mol Genet Genomic Med (2017)

Urine microRNA Profiling Displays miR-125a Dysregulation in Children with Fragile X Syndrome

di Putkonen, Noora, Laiho, Asta, Ethell, Doug, Pursiheimo, Juha, Anttonen, Anna-Kaisa, Pitkonen, Juho, Gentile, Adriana M., de Diego-Otero, Yolanda, Castrén, Maija L.
Pubblicato in Cells (2020)

Dysfunctional ADAM22 implicated in progressive encephalopathy with cortical atrophy and epilepsy

di Muona, Mikko, Fukata, Yuko, Anttonen, Anna-Kaisa, Laari, Anni, Palotie, Aarno, Pihko, Helena, Lönnqvist, Tuula, Valanne, Leena, Somer, Mirja, Fukata, Masaki, Lehesjoki, Anna-Elina
Pubblicato in Neurol Genet (2016)

The Novel Neuronal Ceroid Lipofuscinosis Gene MFSD8 Encodes a Putative Lysosomal Transporter

di Siintola, Eija , Topcu, Meral , Aula, Nina , Lohi, Hannes , Minassian, Berge A. , Paterson, Andrew D. , Liu, Xiao-Qing , Wilson, Callum , Lahtinen, Ulla , Anttonen, Anna-Kaisa , Lehesjoki, Anna-Elina 
Pubblicazione 2007

Selenoprotein biosynthesis defect causes progressive encephalopathy with elevated lactate

di Anttonen, Anna-Kaisa, Hilander, Taru, Linnankivi, Tarja, Isohanni, Pirjo, French, Rachel L., Liu, Yuchen, Simonović, Miljan, Söll, Dieter, Somer, Mirja, Muth-Pawlak, Dorota, Corthals, Garry L., Laari, Anni, Ylikallio, Emil, Lähde, Marja, Valanne, Leena, Lönnqvist, Tuula, Pihko, Helena, Paetau, Anders, Lehesjoki, Anna-Elina, Suomalainen, Anu, Tyynismaa, Henna
Pubblicato in Neurology (2015)

Phenotypic and imaging spectrum associated with WDR45

di Adang, Laura A., Pizzino, Amy, Malhotra, Alka, Dubbs, Holly, Williams, Catherine, Sherbini, Omar, Anttonen, Anna-Kaisa, Lesca, Gaetan, Linnankivi, Tarja, Laurencin, Chloé, Milh, Matthieu, Perrine, Charles, Schaaf, Christian P., Poulat, Anne-Lise, Ville, Dorothee, Hagelstrom, Tanner, Perry, Denise L., Taft, Ryan J., Goldstein, Amy, Vossough, Arastoo, Helbig, Ingo, Vanderver, Adeline
Pubblicato in Pediatr Neurol (2020)

Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy

di Muona, Mikko, Ishimura, Ryosuke, Laari, Anni, Ichimura, Yoshinobu, Linnankivi, Tarja, Keski-Filppula, Riikka, Herva, Riitta, Rantala, Heikki, Paetau, Anders, Pöyhönen, Minna, Obata, Miki, Uemura, Takefumi, Karhu, Thomas, Bizen, Norihisa, Takebayashi, Hirohide, McKee, Shane, Parker, Michael J., Akawi, Nadia, McRae, Jeremy, Hurles, Matthew E., Kuismin, Outi, Kurki, Mitja I., Anttonen, Anna-Kaisa, Tanaka, Keiji, Palotie, Aarno, Waguri, Satoshi, Lehesjoki, Anna-Elina, Komatsu, Masaaki
Pubblicato in Am J Hum Genet (2016)

Sodium channel SCN3A (Na(V)1.3) regulation of human cerebral cortical folding and oral motor development

di Smith, Richard S., Kenny, Connor J., Ganesh, Vijay, Jang, Ahram, Borges-Monroy, Rebeca, Partlow, Jennifer N., Hill, R. Sean, Shin, Taehwan, Chen, Allen Y., Doan, Ryan N., Anttonen, Anna-Kaisa, Ignatius, Jaakko, Medne, Livija, Bönnemann, Carsten G., Hecht, Jonathan L., Salonen, Oili, Barkovich, A. James, Poduri, Annapurna, Wilke, Martina, de Wit, Marie Claire Y., Mancini, Grazia M.S., Sztriha, Laszlo, Im, Kiho, Amrom, Dina, Andermann, Eva, Paetau, Ritva, Lehesjoki, Anna-Elina, Walsh, Christopher A., Lehtinen, Maria K.
Pubblicato in Neuron (2018)

Pitfalls in genetic testing: the story of missed SCN1A mutations

di Djémié, Tania, Weckhuysen, Sarah, von Spiczak, Sarah, Carvill, Gemma L., Jaehn, Johanna, Anttonen, Anna‐Kaisa, Brilstra, Eva, Caglayan, Hande S., de Kovel, Carolien G., Depienne, Christel, Gaily, Eija, Gennaro, Elena, Giraldez, Beatriz G., Gormley, Padhraig, Guerrero‐López, Rosa, Guerrini, Renzo, Hämäläinen, Eija, Hartmann, Corinna, Hernandez‐Hernandez, Laura, Hjalgrim, Helle, Koeleman, Bobby P. C., Leguern, Eric, Lehesjoki, Anna‐Elina, Lemke, Johannes R., Leu, Costin, Marini, Carla, McMahon, Jacinta M., Mei, Davide, Møller, Rikke S., Muhle, Hiltrud, Myers, Candace T., Nava, Caroline, Serratosa, Jose M., Sisodiya, Sanjay M., Stephani, Ulrich, Striano, Pasquale, van Kempen, Marjan J. A., Verbeek, Nienke E., Usluer, Sunay, Zara, Federico, Palotie, Aarno, Mefford, Heather C., Scheffer, Ingrid E., De Jonghe, Peter, Helbig, Ingo, Suls, Arvid
Pubblicato in Mol Genet Genomic Med (2016)