Publications by authors named "Riikka Keski-Filppula"

15Publications

Recessive MYH3 variants cause "Contractures, pterygia, and variable skeletal fusions syndrome 1B" mimicking Escobar variant multiple pterygium syndrome.

Am J Med Genet A 2020 Sep 9. Epub 2020 Sep 9.

Department of Clinical Genetics, HUSLAB, HUS Diagnostic Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.

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http://dx.doi.org/10.1002/ajmg.a.61836DOI Listing
September 2020

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

Genet Med 2020 03 5;22(3):663-664. Epub 2019 Nov 5.

Laboratory of Cancer Genetics and Tumor Biology, Cancer and Translational Medicine Research Unit and Biocenter Oulu, Northern Finland Laboratory Centre Nordlab Oulu, University of Oulu, Oulu, Finland.

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http://dx.doi.org/10.1038/s41436-019-0694-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7056660PMC
March 2020

Collagen XIII-derived ectodomain regulates bone angiogenesis and intracortical remodeling.

Matrix Biol 2019 10 17;83:6-25. Epub 2019 Jun 17.

Oulu Center for Cell-Matrix Research and Biocenter Oulu, Faculty of Biochemistry and Molecular Medicine, P.O. Box 5400, FIN-90014, University of Oulu, Oulu, Finland. Electronic address:

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http://dx.doi.org/10.1016/j.matbio.2019.06.005DOI Listing
October 2019

Familial oligodontia and regional odontodysplasia associated with a PAX9 initiation codon mutation.

Clin Oral Investig 2019 Nov 26;23(11):4107-4111. Epub 2019 Feb 26.

Institute of Dentistry, Department of Cariology, Endodontology and Pedodontics, University of Oulu, POB 5281, 90014, Oulu, Finland.

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http://dx.doi.org/10.1007/s00784-019-02849-5DOI Listing
November 2019

ADA2 deficiency: Clonal lymphoproliferation in a subset of patients.

J Allergy Clin Immunol 2018 04 31;141(4):1534-1537.e8. Epub 2018 Jan 31.

Institute for Molecular Medicine Finland (FIMM), University of Helsinki, Helsinki, Finland. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2018.01.012DOI Listing
April 2018

Riboflavin-Responsive Multiple Acyl-CoA Dehydrogenase Deficiency Associated with Hepatoencephalomyopathy and White Matter Signal Abnormalities on Brain MRI.

Neuropediatrics 2017 Jun 7;48(3):194-198. Epub 2017 Apr 7.

PEDEGO Research Unit, Department of Children and Adolescents, Medical Research Center Oulu, Oulu University Hospital, University of Oulu, Oulu, Finland.

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http://dx.doi.org/10.1055/s-0037-1601447DOI Listing
June 2017

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

Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa.

Eur J Hum Genet 2014 Jul 21;22(7):888-95. Epub 2013 Aug 21.

1] Department of Pediatrics, Institute for Metabolic and Genetic Disease, Radboud University Medical Centre, Nijmegen, The Netherlands [2] Hayward Genetics Center, Tulane University Medical Center, New Orleans, LA, USA.

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http://dx.doi.org/10.1038/ejhg.2013.154DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4060105PMC
July 2014