Publications by authors named "Outi Kuismin"

24Publications

Medulloblastoma, macrocephaly, and a pathogenic germline PTEN variant: Cause or coincidence?

Mol Genet Genomic Med 2020 Sep 17;8(9):e1302. Epub 2020 May 17.

Department of Pediatrics, MRC Oulu, PEDEGO Research Unit, University of Oulu and Oulu University Hospital, Oulu, Finland.

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http://dx.doi.org/10.1002/mgg3.1302DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7507464PMC
September 2020

Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations.

J Allergy Clin Immunol 2020 Oct 9;146(4):901-911. Epub 2020 Apr 9.

Institute for Immunodeficiency, Center for Chronic Immunodeficiency, Medical Center University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany; CIBSS (Centre for Integrative Biological Signalling Studies), University of Freiburg, Freiburg, Germany; RESIST - Cluster of Excellence 2155 to Hanover Medical School, Satellite Center Freiburg, Freiburg, Germany; Institute of Immunology and Transplantation, Royal Free Hospital and University College London, London, United Kingdom; DZIF (German Center for Infection Research) Satellite Center Freiburg, Freiburg, Germany; Rheumatology and Clinical Immunology, Center for Chronic Immunodeficiency, Medical Center University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2019.11.051DOI Listing
October 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

Identification as a Mutation Carrier and Effects on Life According to Experiences of Finnish Male BRCA1/2 Mutation Carriers.

J Genet Couns 2018 08 13;27(4):874-884. Epub 2018 Jan 13.

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

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http://dx.doi.org/10.1007/s10897-017-0209-1DOI Listing
August 2018

Mutation analysis of inhibitory guanine nucleotide binding protein alpha (GNAI) loci in young and familial pituitary adenomas.

PLoS One 2014 7;9(10):e109897. Epub 2014 Oct 7.

Department of Medical Genetics, Genome-Scale Biology Research Program, Institute of Biomedicine, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0109897PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4188600PMC
December 2015

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

No evidence of RET germline mutations in familial pituitary adenoma.

J Mol Endocrinol 2011 Feb 21;46(1):1-8. Epub 2010 Dec 21.

Genome-Scale Biology Research Program, Department of Medical Genetics, University of Helsinki, 00014 Helsinki, Finland.

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http://dx.doi.org/10.1677/JME-10-0052DOI Listing
February 2011