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

Analysis of functional variants in mitochondrial DNA of Finnish athletes

Por Kiiskilä, Jukka, Moilanen, Jukka S., Kytövuori, Laura, Niemi, Anna-Kaisa, Majamaa, Kari
Publicado no BMC Genomics (2019)

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)

The Properties and Role of O-Acyl-ω-hydroxy Fatty Acids and Type I-St and Type II Diesters in the Tear Film Lipid Layer Revealed by a Combined Chemistry and Biophysics Approach

Por Viitaja, Tuomo, Raitanen, Jan-Erik, Moilanen, Jukka, Paananen, Riku O., Ekholm, Filip S.
Publicado no J Org Chem (2021)

Evaluating the role of MLH3 p.Ser1188Ter variant in inherited breast cancer predisposition

Por Koivuluoma, Susanna, Winqvist, Robert, Keski-Filppula, Riikka, Kuismin, Outi, Moilanen, Jukka, Pylkäs, Katri
Publicado no Genet Med (2019)

Extracellular small non-coding RNA contaminants in fetal bovine serum and serum-free media

Por Mannerström, Bettina, Paananen, Riku O., Abu-Shahba, Ahmed G., Moilanen, Jukka, Seppänen-Kaijansinkko, Riitta, Kaur, Sippy
Publicado no Sci Rep (2019)

Publisher Correction: Extracellular small non-coding RNA contaminants in fetal bovine serum and serum-free media

Por Mannerström, Bettina, Paananen, Riku O., Abu-Shahba, Ahmed G., Moilanen, Jukka, Seppänen-Kaijansinkko, Riitta, Kaur, Sippy
Publicado no Sci Rep (2020)

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

Predisposition to childhood acute lymphoblastic leukemia caused by a constitutional translocation disrupting ETV6

Por Järviaho, Tekla, Bang, Benedicte, Zachariadis, Vasilios, Taylan, Fulya, Moilanen, Jukka, Möttönen, Merja, Smith, C. I. Edvard, Harila-Saari, Arja, Niinimäki, Riitta, Nordgren, Ann
Publicado no Blood Adv (2019)

Haplotype analysis suggest that the MLH1 c.2059C > T mutation is a Swedish founder mutation

Por von Salomé, Jenny, Liu, Tao, Keihäs, Markku, Morak, Moni, Holinski-Feder, Elke, Berry, Ian R., Moilanen, Jukka S., Baert-Desurmont, Stéphanie, Lindblom, Annika, Lagerstedt-Robinson, Kristina
Publicado no Fam Cancer (2017)

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)

Novel variants in Nordic patients referred for genetic testing of telomere-related disorders

Por Norberg, Anna, Rosén, Anna, Raaschou-Jensen, Klas, Kjeldsen, Lars, Moilanen, Jukka S., Paulsson-Karlsson, Ylva, Baliakas, Panagiotis, Lohi, Olli, Ahmed, Aymen, Kittang, Astrid O., Larsson, Pär, Roos, Göran, Degerman, Sofie, Hultdin, Magnus
Publicado no Eur J Hum Genet (2018)

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)