Human Chromosome Y and Haplogroups; introducing YDHS Database

par Tiirikka, Timo, Moilanen, Jukka S
Publié dans 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

par Haanpää, Maria, Pylkäs, Katri, Moilanen, Jukka S, Winqvist, Robert
Publié 2013

Mitochondrial DNA sequence variation in Finnish patients with matrilineal diabetes mellitus

par Soini, Heidi K, Moilanen, Jukka S, Finnila, Saara, Majamaa, Kari
Publié 2012

Analysis of functional variants in mitochondrial DNA of Finnish athletes

par Kiiskilä, Jukka, Moilanen, Jukka S., Kytövuori, Laura, Niemi, Anna-Kaisa, Majamaa, Kari
Publié dans 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

par Soini, Heidi K, Moilanen, Jukka S, Vilmi-Kerälä, Tiina, Finnilä, Saara, Majamaa, Kari
Publié 2013

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

par Palmio, Johanna, Kärppä, Mikko, Baumann, Peter, Penttilä, Sini, Moilanen, Jukka, Udd, Bjarne
Publié dans 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

par Viitaja, Tuomo, Raitanen, Jan-Erik, Moilanen, Jukka, Paananen, Riku O., Ekholm, Filip S.
Publié dans J Org Chem (2021)

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

par Koivuluoma, Susanna, Winqvist, Robert, Keski-Filppula, Riikka, Kuismin, Outi, Moilanen, Jukka, Pylkäs, Katri
Publié dans Genet Med (2019)

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

par Mannerström, Bettina, Paananen, Riku O., Abu-Shahba, Ahmed G., Moilanen, Jukka, Seppänen-Kaijansinkko, Riitta, Kaur, Sippy
Publié dans Sci Rep (2019)

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

par Mannerström, Bettina, Paananen, Riku O., Abu-Shahba, Ahmed G., Moilanen, Jukka, Seppänen-Kaijansinkko, Riitta, Kaur, Sippy
Publié dans Sci Rep (2020)

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

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

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

par Soini, Heidi K., Väisänen, Antti, Kärppä, Mikko, Hinttala, Reetta, Kytövuori, Laura, Moilanen, Jukka S., Uusimaa, Johanna, Majamaa, Kari
Publié dans 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

par Hautamäki, Asta, Seitsonen, Sanna, Holopainen, Juha M., Moilanen, Jukka A., Kivioja, Jarno, Onkamo, Päivi, Järvelä, Irma, Immonen, Ilkka
Publié dans Acta Ophthalmol (2015)

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

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

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

par Järviaho, Tekla, Bang, Benedicte, Zachariadis, Vasilios, Taylan, Fulya, Moilanen, Jukka, Möttönen, Merja, Smith, C. I. Edvard, Harila-Saari, Arja, Niinimäki, Riitta, Nordgren, Ann
Publié dans Blood Adv (2019)

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

par 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
Publié dans Fam Cancer (2017)

Biallelic Mutations in BRCA1 Cause a New Fanconi Anemia Subtype

par 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.
Publié dans Cancer Discov (2014)

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

par 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
Publié dans 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

par 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.
Publié 2008

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

par 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.
Publié dans Blood (2017)