Human Chromosome Y and Haplogroups; introducing YDHS Database

le Tiirikka, Timo, Moilanen, Jukka S
Foilsithe in 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

le Haanpää, Maria, Pylkäs, Katri, Moilanen, Jukka S, Winqvist, Robert
Foilsithe 2013

Mitochondrial DNA sequence variation in Finnish patients with matrilineal diabetes mellitus

le Soini, Heidi K, Moilanen, Jukka S, Finnila, Saara, Majamaa, Kari
Foilsithe 2012

Analysis of functional variants in mitochondrial DNA of Finnish athletes

le Kiiskilä, Jukka, Moilanen, Jukka S., Kytövuori, Laura, Niemi, Anna-Kaisa, Majamaa, Kari
Foilsithe in 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

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

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

le Palmio, Johanna, Kärppä, Mikko, Baumann, Peter, Penttilä, Sini, Moilanen, Jukka, Udd, Bjarne
Foilsithe in 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

le Viitaja, Tuomo, Raitanen, Jan-Erik, Moilanen, Jukka, Paananen, Riku O., Ekholm, Filip S.
Foilsithe in J Org Chem (2021)

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

le Koivuluoma, Susanna, Winqvist, Robert, Keski-Filppula, Riikka, Kuismin, Outi, Moilanen, Jukka, Pylkäs, Katri
Foilsithe in Genet Med (2019)

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

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

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

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

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

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

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

le Soini, Heidi K., Väisänen, Antti, Kärppä, Mikko, Hinttala, Reetta, Kytövuori, Laura, Moilanen, Jukka S., Uusimaa, Johanna, Majamaa, Kari
Foilsithe in 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

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

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

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

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

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

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

le 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
Foilsithe in Fam Cancer (2017)

Biallelic Mutations in BRCA1 Cause a New Fanconi Anemia Subtype

le 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.
Foilsithe in Cancer Discov (2014)

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

le 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
Foilsithe in 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

le 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.
Foilsithe 2008

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

le 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.
Foilsithe in Blood (2017)