Johanna Tommiska

Johanna Tommiska

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Johanna Tommiska

Johanna Tommiska

Publications by authors named "Johanna Tommiska"

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Childhood growth in boys with congenital hypogonadotropic hypogonadism.

Pediatr Res 2016 05 31;79(5):705-9. Epub 2015 Dec 31.

Children's Hospital, Helsinki University Hospital, University of Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.1038/pr.2015.278DOI Listing
May 2016

Gonadotropin-releasing hormone receptor mutations in ageing men.

Clin Endocrinol (Oxf) 2016 Jan 1;84(1):150-1. Epub 2015 Jul 1.

Faculty of Medicine, Department of Physiology, University of Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.1111/cen.12833DOI Listing
January 2016

A missense mutation in MKRN3 in a Danish girl with central precocious puberty and her brother with early puberty.

Pediatr Res 2015 Dec 2;78(6):709-11. Epub 2015 Sep 2.

Physiology, Faculty of Medicine, University of Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.1038/pr.2015.159DOI Listing
December 2015

Congenital hypogonadotropic hypogonadism with split hand/foot malformation: a clinical entity with a high frequency of FGFR1 mutations.

Genet Med 2015 Aug 13;17(8):651-9. Epub 2014 Nov 13.

1] Harvard Reproductive Endocrine Sciences Center and the Reproductive Endocrine Unit of the Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA [2] Department of Endocrinology, Diabetology and Metabolism, Lausanne University Hospital (CHUV), Lausanne, Switzerland [3] Faculty of Biology and Medicine, University of Lausanne, Lausanne, Switzerland.

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http://dx.doi.org/10.1038/gim.2014.166DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4430466PMC
August 2015

Childhood growth of females with Kallmann syndrome and FGFR1 mutations.

Clin Endocrinol (Oxf) 2015 Jan 25;82(1):122-6. Epub 2014 Jun 25.

Children's Hospital, Helsinki University Central Hospital (HUCH), Helsinki, Finland.

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http://dx.doi.org/10.1111/cen.12504DOI Listing
January 2015

Genetics of congenital hypogonadotropic hypogonadism in Denmark.

Eur J Med Genet 2014 Jul 13;57(7):345-8. Epub 2014 Apr 13.

Institute of Biomedicine/Physiology, University of Helsinki, Helsinki, Finland; Children's Hospital, Helsinki University Central Hospital (HUCH), Helsinki, Finland.

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http://dx.doi.org/10.1016/j.ejmg.2014.04.002DOI Listing
July 2014

De novo SOX10 nonsense mutation in a patient with Kallmann syndrome and hearing loss.

Pediatr Res 2014 Jul 25;76(1):115-6. Epub 2014 Apr 25.

1] Institute of Biomedicine/Physiology, University of Helsinki, Helsinki, Finland [2] Children's Hospital, Helsinki University Central Hospital (HUCH), Helsinki, Finland.

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http://dx.doi.org/10.1038/pr.2014.60DOI Listing
July 2014

Mutation screening of SEMA3A and SEMA7A in patients with congenital hypogonadotropic hypogonadism.

Pediatr Res 2014 May 12;75(5):641-4. Epub 2014 Feb 12.

1] Institute of Biomedicine/Physiology, University of Helsinki, Helsinki, Finland [2] Children's Hospital, Helsinki University Central Hospital, Helsinki, Finland.

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http://dx.doi.org/10.1038/pr.2014.23DOI Listing
May 2014

PROKR2 mutations in autosomal recessive Kallmann syndrome.

Fertil Steril 2013 Mar 29;99(3):815-8. Epub 2012 Nov 29.

Institute of Biomedicine/Physiology, University of Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.1016/j.fertnstert.2012.11.003DOI Listing
March 2013

Reversible congenital hypogonadotropic hypogonadism in patients with CHD7, FGFR1 or GNRHR mutations.

PLoS One 2012 19;7(6):e39450. Epub 2012 Jun 19.

Institute of Biomedicine/Physiology, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0039450PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3378565PMC
December 2012

Variants on the promoter region of PTEN affect breast cancer progression and patient survival.

Breast Cancer Res 2011 15;13(6):R130. Epub 2011 Dec 15.

Department of Obstetrics and Gynecology, Helsinki University Central Hospital, 00029 HUS, Helsinki, Finland.

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http://dx.doi.org/10.1186/bcr3076DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3326572PMC
June 2012

Circulating antimüllerian hormone levels in boys decline during early puberty and correlate with inhibin B.

Fertil Steril 2012 May 9;97(5):1242-7. Epub 2012 Mar 9.

Children's Hospital, Helsinki University Central Hospital (HUCH), Helsinki, Finland.

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http://dx.doi.org/10.1016/j.fertnstert.2012.02.020DOI Listing
May 2012

NQO1 expression correlates inversely with NFκB activation in human breast cancer.

Breast Cancer Res Treat 2012 Apr 25;132(3):955-68. Epub 2011 Jun 25.

Department of Obstetrics and Gynecology, Biomedicum Helsinki, Helsinki University Central Hospital, PO Box 700, 00029 Helsinki, Finland.

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http://link.springer.com/10.1007/s10549-011-1629-5
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http://dx.doi.org/10.1007/s10549-011-1629-5DOI Listing
April 2012

LIN28B, LIN28A, KISS1, and KISS1R in idiopathic central precocious puberty.

BMC Res Notes 2011 Sep 22;4:363. Epub 2011 Sep 22.

Institute of Biomedicine/Physiology, University of Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.1186/1756-0500-4-363DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3184284PMC
September 2011

Isolated cryptorchidism: no evidence for involvement of genes underlying isolated hypogonadotropic hypogonadism.

Mol Cell Endocrinol 2011 Jul 1;341(1-2):35-8. Epub 2011 Jun 1.

Children's Hospital, Helsinki University Central Hospital, University of Helsinki, FI-00029 Helsinki, Finland.

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http://dx.doi.org/10.1016/j.mce.2011.05.015DOI Listing
July 2011

The role of gene defects underlying isolated hypogonadotropic hypogonadism in patients with constitutional delay of growth and puberty.

Fertil Steril 2011 Jun 3;95(8):2756-8. Epub 2011 Feb 3.

Institute of Biomedicine, Department of Physiology, University of Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.1016/j.fertnstert.2010.12.059DOI Listing
June 2011

Incidence, phenotypic features and molecular genetics of Kallmann syndrome in Finland.

Orphanet J Rare Dis 2011 Jun 17;6:41. Epub 2011 Jun 17.

Children's Hospital, Helsinki University Central Hospital, University of Helsinki, FI-00029 Helsinki, Finland.

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http://dx.doi.org/10.1186/1750-1172-6-41DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3143089PMC
June 2011

LIN28B in constitutional delay of growth and puberty.

J Clin Endocrinol Metab 2010 Jun 29;95(6):3063-6. Epub 2010 Mar 29.

Institute of Biomedicine, Department of Physiology, University of Helsinki, Biomedicum Helsinki, P.O. Box 63 (Haartmaninkatu 8), University of Helsinki, FI-00014 Helsinki, Finland.

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http://dx.doi.org/10.1210/jc.2009-2344DOI Listing
June 2010

Idiopathic hypogonadotropic hypogonadism in a mother and her monozygotic twins born after a single embryo transfer.

Fertil Steril 2010 Apr 15;93(6):2074.e13-6. Epub 2010 Jan 15.

Institute of Biomedicine, Department of Physiology, University of Helsinki, Children's Hospital, Helsinki University Central Hospital, Helsinki, Finland.

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http://dx.doi.org/10.1016/j.fertnstert.2009.11.013DOI Listing
April 2010

The combined status of ATM and p53 link tumor development with therapeutic response.

Genes Dev 2009 Aug 16;23(16):1895-909. Epub 2009 Jul 16.

The Koch Institute for Integrative Cancer Research at Massachusetts Institute of Technology, Massachusetts Institute of Technology, Cambridge, Massachusetts 02139, USA.

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http://dx.doi.org/10.1101/gad.1815309DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2725944PMC
August 2009

Construction and biological activity of a full-length molecular clone of human Torque teno virus (TTV) genotype 6.

FEBS J 2007 Sep 22;274(18):4719-30. Epub 2007 Aug 22.

Department of Virology, Haartman Institute and Helsinki University Central Hospital, University of Helsinki, Finland.

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http://dx.doi.org/10.1111/j.1742-4658.2007.06020.xDOI Listing
September 2007

AURKA F31I polymorphism and breast cancer risk in BRCA1 and BRCA2 mutation carriers: a consortium of investigators of modifiers of BRCA1/2 study.

Cancer Epidemiol Biomarkers Prev 2007 Jul;16(7):1416-21

Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, 200 First Street Southwest, Rochester, MN 55905, USA.

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http://cebp.aacrjournals.org/cgi/doi/10.1158/1055-9965.EPI-0
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http://dx.doi.org/10.1158/1055-9965.EPI-07-0129DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2775799PMC
July 2007

The single-nucleotide polymorphism 309 in the MDM2 gene contributes to the Li-Fraumeni syndrome and related phenotypes.

Eur J Hum Genet 2007 Jan 27;15(1):110-4. Epub 2006 Sep 27.

Family Cancer Clinic, The Netherlands Cancer Institute, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1038/sj.ejhg.5201715DOI Listing
January 2007