Human Chromosome Y and Haplogroups; introducing YDHS Database

Por Tiirikka, Timo, Moilanen, Jukka S
Publicado no Clin Transl Med (2015)

Evaluation of the need for routine clinical testing of PALB2 c.1592delT mutation in BRCA negative Northern Finnish breast cancer families

Por Haanpää, Maria, Pylkäs, Katri, Moilanen, Jukka S, Winqvist, Robert
Publicado em 2013

Mitochondrial DNA sequence variation in Finnish patients with matrilineal diabetes mellitus

Por Soini, Heidi K, Moilanen, Jukka S, Finnila, Saara, Majamaa, Kari
Publicado em 2012

Mitochondrial DNA variant m.15218A > G in Finnish epilepsy patients who have maternal relatives with epilepsy, sensorineural hearing impairment or diabetes mellitus

Por Soini, Heidi K, Moilanen, Jukka S, Vilmi-Kerälä, Tiina, Finnilä, Saara, Majamaa, Kari
Publicado em 2013

Novel compound heterozygous mutation in SACS gene leads to a milder autosomal recessive spastic ataxia of Charlevoix‐Saguenay, ARSACS, in a Finnish family

Por Palmio, Johanna, Kärppä, Mikko, Baumann, Peter, Penttilä, Sini, Moilanen, Jukka, Udd, Bjarne
Publicado no Clin Case Rep (2016)

Targeted next-generation sequencing reveals further genetic heterogeneity in axonal Charcot–Marie–Tooth neuropathy and a mutation in HSPB1

Por Ylikallio, Emil, Johari, Mridul, Konovalova, Svetlana, Moilanen, Jukka S, Kiuru-Enari, Sari, Auranen, Mari, Pajunen, Leila, Tyynismaa, Henna
Publicado em 2014

A novel MTTT mutation m.15933G > A revealed in analysis of mitochondrial DNA in patients with suspected mitochondrial disease

Por Soini, Heidi K., Väisänen, Antti, Kärppä, Mikko, Hinttala, Reetta, Kytövuori, Laura, Moilanen, Jukka S., Uusimaa, Johanna, Majamaa, Kari
Publicado no BMC Med Genet (2017)

The genetic variant rs4073 A→T of the Interleukin‐8 promoter region is associated with the earlier onset of exudative age‐related macular degeneration

Por Hautamäki, Asta, Seitsonen, Sanna, Holopainen, Juha M., Moilanen, Jukka A., Kivioja, Jarno, Onkamo, Päivi, Järvelä, Irma, Immonen, Ilkka
Publicado no Acta Ophthalmol (2015)

De Novo STX16 Deletions: An Infrequent Cause of Pseudohypoparathyroidism Type Ib that Should Be Excluded in Sporadic Cases

Por Turan, Serap, Ignatius, Jaakko, Moilanen, Jukka S., Kuismin, Outi, Stewart, Helen, Mann, Nicholas P., Linglart, Agnès, Bastepe, Murat, Jüppner, Harald
Publicado em 2012

Biallelic Mutations in BRCA1 Cause a New Fanconi Anemia Subtype

Por Sawyer, Sarah L., Tian, Lei, Kähkönen, Marketta, Schwartzentruber, Jeremy, Kircher, Martin, Majewski, Jacek, Dyment, David A., Innes, A. Micheil, Boycott, Kym M., Moreau, Lisa A., Moilanen, Jukka S., Greenberg, Roger A.
Publicado no Cancer Discov (2014)

Multifactor Effects and Evidence of Potential Interaction between Complement Factor H Y402H and LOC387715 A69S in Age-Related Macular Degeneration

Por Seitsonen, Sanna P., Onkamo, Päivi, Peng, Gang, Xiong, Momiao, Tommila, Petri V., Ranta, Päivi H., Holopainen, Juha M., Moilanen, Jukka A., Palosaari, Tapani, Kaarniranta, Kai, Meri, Seppo, Immonen, Ilkka R., Järvelä, Irma E.
Publicado em 2008

Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunodeficiency, MDS, and neurological symptoms

Por Tesi, Bianca, Davidsson, Josef, Voss, Matthias, Rahikkala, Elisa, Holmes, Tim D., Chiang, Samuel C. C., Komulainen-Ebrahim, Jonna, Gorcenco, Sorina, Rundberg Nilsson, Alexandra, Ripperger, Tim, Kokkonen, Hannaleena, Bryder, David, Fioretos, Thoas, Henter, Jan-Inge, Möttönen, Merja, Niinimäki, Riitta, Nilsson, Lars, Pronk, Cornelis Jan, Puschmann, Andreas, Qian, Hong, Uusimaa, Johanna, Moilanen, Jukka, Tedgård, Ulf, Cammenga, Jörg, Bryceson, Yenan T.
Publicado no Blood (2017)

Mutations in SRCAP, Encoding SNF2-Related CREBBP Activator Protein, Cause Floating-Harbor Syndrome

Por Hood, Rebecca L., Lines, Matthew A., Nikkel, Sarah M., Schwartzentruber, Jeremy, Beaulieu, Chandree, Nowaczyk, Małgorzata J.M., Allanson, Judith, Kim, Chong Ae, Wieczorek, Dagmar, Moilanen, Jukka S., Lacombe, Didier, Gillessen-Kaesbach, Gabriele, Whiteford, Margo L., Quaio, Caio Robledo D.C., Gomy, Israel, Bertola, Debora R., Albrecht, Beate, Platzer, Konrad, McGillivray, George, Zou, Ruobing, McLeod, D. Ross, Chudley, Albert E., Chodirker, Bernard N., Marcadier, Janet, Majewski, Jacek, Bulman, Dennis E., White, Susan M., Boycott, Kym M.
Publicado em 2012

The co-occurrence of mtDNA mutations on different oxidative phosphorylation subunits, not detected by haplogroup analysis, affects human longevity and is population specific

Por Raule, Nicola, Sevini, Federica, Li, Shengting, Barbieri, Annalaura, Tallaro, Federica, Lomartire, Laura, Vianello, Dario, Montesanto, Alberto, Moilanen, Jukka S, Bezrukov, Vladyslav, Blanché, Hélène, Hervonen, Antti, Christensen, Kaare, Deiana, Luca, Gonos, Efstathios S, Kirkwood, Tom B L, Kristensen, Peter, Leon, Alberta, Pelicci, Pier Giuseppe, Poulain, Michel, Rea, Irene M, Remacle, Josè, Robine, Jean Marie, Schreiber, Stefan, Sikora, Ewa, Eline Slagboom, Peternella, Spazzafumo, Liana, Antonietta Stazi, Maria, Toussaint, Olivier, Vaupel, James W, Rose, Giuseppina, Majamaa, Kari, Perola, Markus, Johnson, Thomas E, Bolund, Lars, Yang, Huanming, Passarino, Giuseppe, Franceschi, Claudio
Publicado no Aging Cell (2014)

Mutations in the signal transducer and activator of transcription 3 (STAT3) and diagnostic guidelines for the Hyper-IgE Syndrome

Por Woellner, Cristina, Gertz, E. Michael, Schäffer, Alejandro A., Lagos, Macarena, Perro, Mario, Glocker, Erik-Oliver, Pietrogrande, Maria C., Cossu, Fausto, Franco, José L., Matamoros, Nuria, Pietrucha, Barbara, Heropolitańska-Pliszka, Edyta, Yeganeh, Mehdi, Moin, Mostafa, Español, Teresa, Ehl, Stephan, Gennery, Andrew R., Abinun, Mario, Bręborowicz, Anna, Niehues, Tim, Kilic, Sara Sebnem, Junker, Anne, Turvey, Stuart E., Plebani, Alessandro, Sánchez, Berta, Garty, Ben-Zion, Pignata, Claudio, Cancrini, Caterina, Litzman, Jiri, Sanal, Özden, Baumann, Ulrich, Bacchetta, Rosa, Hsu, Amy P., Davis, Joie N., Hammarström, Lennart, Davies, E. Graham, Eren, Efrem, Arkwright, Peter D., Moilanen, Jukka S., Viemann, Dorothee, Khan, Sujoy, Maródi, László, Cant, Andrew J., Freeman, Alexandra F., Puck, Jennifer M., Holland, Steven M., Grimbacher, Bodo
Publicado em 2010

The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP

Por Nikkel, Sarah M, Dauber, Andrew, de Munnik, Sonja, Connolly, Meghan, Hood, Rebecca L, Caluseriu, Oana, Hurst, Jane, Kini, Usha, Nowaczyk, Malgorzata J M, Afenjar, Alexandra, Albrecht, Beate, Allanson, Judith E, Balestri, Paolo, Ben-Omran, Tawfeg, Brancati, Francesco, Cordeiro, Isabel, da Cunha, Bruna Santos, Delaney, Louisa A, Destrée, Anne, Fitzpatrick, David, Forzano, Francesca, Ghali, Neeti, Gillies, Greta, Harwood, Katerina, Hendriks, Yvonne M C, Héron, Delphine, Hoischen, Alexander, Honey, Engela Magdalena, Hoefsloot, Lies H, Ibrahim, Jennifer, Jacob, Claire M, Kant, Sarina G, Kim, Chong Ae, Kirk, Edwin P, Knoers, Nine V A M, Lacombe, Didier, Lee, Chung, Lo, Ivan F M, Lucas, Luiza S, Mari, Francesca, Mericq, Veronica, Moilanen, Jukka S, Møller, Sanne Traasdahl, Moortgat, Stephanie, Pilz, Daniela T, Pope, Kate, Price, Susan, Renieri, Alessandra, Sá, Joaquim, Schoots, Jeroen, Silveira, Elizabeth L, Simon, Marleen E H, Slavotinek, Anne, Temple, I Karen, van der Burgt, Ineke, de Vries, Bert B A, Weisfeld-Adams, James D, Whiteford, Margo L, Wierczorek, Dagmar, Wit, Jan M, Yee, Connie Fung On, Beaulieu, Chandree L, White, Sue M, Bulman, Dennis E, Bongers, Ernie, Brunner, Han, Feingold, Murray, Boycott, Kym M
Publicado em 2013