Jukka S Moilanen

Jukka S Moilanen

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Jukka S Moilanen

Jukka S Moilanen

Publications by authors named "Jukka S Moilanen"

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Analysis of functional variants in mitochondrial DNA of Finnish athletes.

BMC Genomics 2019 Oct 29;20(1):784. Epub 2019 Oct 29.

Research Unit of Clinical Neuroscience, Neurology, University of Oulu, P.O. Box 5000, FI-90014, Oulu, Finland.

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http://dx.doi.org/10.1186/s12864-019-6171-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6819560PMC
October 2019

Novel homozygous PCK1 mutation causing cytosolic phosphoenolpyruvate carboxykinase deficiency presenting as childhood hypoglycemia, an abnormal pattern of urine metabolites and liver dysfunction.

Mol Genet Metab 2017 04 6;120(4):337-341. Epub 2017 Feb 6.

Department of Pediatrics, Centre for Molecular Medicine and Therapeutics, BC Children's Hospital Research Institute, University of British Columbia, Vancouver, Canada; Department of Pediatrics, Emma Children's Hospital, Academic Medical Centre, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.ymgme.2017.02.003DOI Listing
April 2017

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

BMC Med Genet 2017 Feb 10;18(1):14. Epub 2017 Feb 10.

Research Unit of Clinical Neuroscience, Neurology, University of Oulu, P.O. Box 5000, FI-90014, Oulu, Finland.

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http://dx.doi.org/10.1186/s12881-017-0377-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5303298PMC
February 2017

The Quality of Genetic Counseling and Connected Factors as Evaluated by Male BRCA1/2 Mutation Carriers in Finland.

J Genet Couns 2016 06 29;25(3):413-21. Epub 2015 Sep 29.

Research Unit of Nursing Science and Health Management, University of Oulu, P.O. Box 5000, 90014 University of Oulu, Oulu, Finland.

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http://dx.doi.org/10.1007/s10897-015-9885-xDOI Listing
June 2016

Human Chromosome Y and Haplogroups; introducing YDHS Database.

Clin Transl Med 2015 Dec 10;4(1):60. Epub 2015 Jun 10.

Department of Clinical Genetics, Oulu University Hospital, PEDEGO Research Unit, University of Oulu, and Medical Research Center Oulu, Oulu University Hospital and University of Oulu, PO Box 23, FI-90029, Oulu, Finland,

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http://dx.doi.org/10.1186/s40169-015-0060-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4477006PMC
December 2015

Epidemiology of early-onset Parkinson's disease in Finland.

Parkinsonism Relat Disord 2015 Aug 4;21(8):938-42. Epub 2015 Jun 4.

Division of Clinical Neurosciences, Neurology, University of Oulu, Oulu, Finland; Department of Neurology and Medical Research Center, Oulu University Hospital, Oulu, Finland. Electronic address:

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http://dx.doi.org/10.1016/j.parkreldis.2015.06.003DOI Listing
August 2015

Biallelic mutations in BRCA1 cause a new Fanconi anemia subtype.

Cancer Discov 2015 Feb 3;5(2):135-42. Epub 2014 Dec 3.

Department of Cancer Biology, Abramson Family Cancer Research Institute, Basser Research Center for BRCA, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania. Department of Pathology, Abramson Family Cancer Research Institute, Basser Research Center for BRCA, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.

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http://dx.doi.org/10.1158/2159-8290.CD-14-1156DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4320660PMC
February 2015

Clinical characterization, genetic mapping and whole-genome sequence analysis of a novel autosomal recessive intellectual disability syndrome.

Eur J Med Genet 2014 Oct 29;57(10):543-51. Epub 2014 Jul 29.

Department of Medical Genetics, Genome-Scale Biology Research Program, University of Helsinki and Haartman Institute, Helsinki, Finland. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2014.07.002DOI Listing
October 2014

Breast-cancer risk in families with mutations in PALB2.

N Engl J Med 2014 Aug;371(6):497-506

From the Departments of Public Health and Primary Care (A.C.A., D.B., A.L., D.F.E.) and Oncology (D.F.E.), Centre for Cancer Genetic Epidemiology, Department of Oncology (D.F.E.), and Department of Medical Genetics and National Institute for Health Research Cambridge Biomedical Research Centre (M.T.), University of Cambridge, and the Department of Clinical Genetics, East Anglian Regional Genetics Service, Addenbrooke's Hospital (J.R., D.S., M.T.), Cambridge, and the Oncogenetics Team, Institute of Cancer Research and Royal Marsden National Health Service Foundation Trust, London (C.T., S.S., N.R.) - all in the United Kingdom; the Division of Medical Genetics, Department of Medicine, University of Washington, Seattle (S.C., M.-C.K.); the Department of Obstetrics and Gynecology, University of Helsinki and Helsinki University Central Hospital (T.H., S.K., H.N.), and the Department of Clinical Genetics, Helsinki University Central Hospital (K.A.), Helsinki, the Laboratory of Cancer Genetics and Tumor Biology, Department of Clinical Chemistry and Biocenter Oulu, University of Oulu, and the Laboratory of Cancer Genetics and Tumor Biology, Northern Finland Laboratory Center NordLab, Oulu University Hospital (K.P., R.W.), and the Department of Clinical Genetics, University of Oulu and Oulu University Hospital (J.S.M.), Oulu, Biocenter Kuopio and Cancer Center of Eastern Finland, University of Eastern Finland, Kuopio (A.M.), and the Institute of Biomedical Technology-Cancer Genomics, University of Tampere, Tampere (A.K.) - all in Finland; the Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium (K.D.L., B.P., K.B.M.C.); the Molecular Diagnostics Laboratory, Institute of Nuclear and Radiologic Sciences and Technology, Energy and Safety, National Center for Scientific Research Demokritos, Athens (F.F., D.Y.); the Department of Genetics, Eastern Ontario Regional Genetics Program, Children's Hospital of Eastern Ontario, Ottawa (E.T.), Samuel Lunenfeld Research

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http://dx.doi.org/10.1056/NEJMoa1400382DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4157599PMC
August 2014

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

Eur J Hum Genet 2014 Apr 21;22(4):522-7. Epub 2013 Aug 21.

1] Research Programs Unit, Molecular Neurology, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland [2] Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.1038/ejhg.2013.190DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3953916PMC
April 2014

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

BMC Med Genet 2013 Aug 13;14:82. Epub 2013 Aug 13.

Laboratory of Cancer Genetics and Tumor Biology, Department of Clinical Chemistry and Biocenter Oulu, Institute of Diagnostics, University of Oulu, P,O, Box 5000, 90014 Oulu, Finland.

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http://dx.doi.org/10.1186/1471-2350-14-82DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3751431PMC
August 2013

Mutations in sFRP1 or sFRP4 are not a common cause of craniotubular hyperostosis.

Bone 2013 Jan 6;52(1):292-5. Epub 2012 Oct 6.

Department of Medical Genetics, University and University Hospital of Antwerp, Edegem, Belgium.

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http://dx.doi.org/10.1016/j.bone.2012.09.034DOI Listing
January 2013

Mitochondrial DNA sequence variation in Finnish patients with matrilineal diabetes mellitus.

BMC Res Notes 2012 Jul 10;5:350. Epub 2012 Jul 10.

Institute of Clinical Medicine, Department of Neurology, University of Oulu, Oulu, Finland.

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http://bmcresnotes.biomedcentral.com/articles/10.1186/1756-0
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http://dx.doi.org/10.1186/1756-0500-5-350DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3434112PMC
July 2012

Sequence variation in the tRNA genes of human mitochondrial DNA.

J Mol Evol 2005 May;60(5):587-97

Department of Neurology, University of Oulu, Finland.

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http://link.springer.com/10.1007/s00239-003-0202-1
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http://dx.doi.org/10.1007/s00239-003-0202-1DOI Listing
May 2005

Mitochondrial DNA polymorphisms as risk factors for Parkinson's disease and Parkinson's disease dementia.

Hum Genet 2004 Jun 24;115(1):29-35. Epub 2004 Apr 24.

Department of Neurology, University Hospital and University of Kuopio, Kuopio, Finland.

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http://dx.doi.org/10.1007/s00439-004-1123-9DOI Listing
June 2004

Lineage-specific selection in human mtDNA: lack of polymorphisms in a segment of MTND5 gene in haplogroup J.

Mol Biol Evol 2003 Dec 29;20(12):2132-42. Epub 2003 Aug 29.

Biocenter and Department of Neurology, University of Oulu, Oulu, Finland.

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http://mbe.oxfordjournals.org/content/20/12/2132.full.pdf
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http://mbe.oupjournals.org/cgi/doi/10.1093/molbev/msg230
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http://dx.doi.org/10.1093/molbev/msg230DOI Listing
December 2003

Phylogenetic network and physicochemical properties of nonsynonymous mutations in the protein-coding genes of human mitochondrial DNA.

Mol Biol Evol 2003 Aug 30;20(8):1195-210. Epub 2003 May 30.

Biocenter and Department of Neurology, University of Oulu, Oulu, Finland.

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http://dx.doi.org/10.1093/molbev/msg121DOI Listing
August 2003

Increased variation in mtDNA in patients with familial sensorineural hearing impairment.

Hum Genet 2003 Aug 12;113(3):220-7. Epub 2003 Jun 12.

Department of Neurology, University of Oulu, P.O. Box 5000, 90014, Oulu, Finland.

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http://link.springer.com/10.1007/s00439-003-0966-9
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http://dx.doi.org/10.1007/s00439-003-0966-9DOI Listing
August 2003