Publications Authored by Kairit Joost

Treatment outcome of creatine transporter deficiency: international retrospective cohort study.

Authors:

Theodora U J Bruun Sarah Sidky Anabela O Bandeira Francoise-Guillaume Debray Can Ficicioglu Jennifer Goldstein Kairit Joost Dwight D Koeberl Diogo Luísa Marie-Cecile Nassogne Siobhan O'Sullivan Katrin Õunap Andreas Schulze Lionel van Maldergem Gajja S Salomons Saadet Mercimek-Andrews

Metab Brain Dis 2018 06 12;33(3):875-884. Epub 2018 Feb 12.

Genetics and Genome Biology Program, Research Institute, The Hospital for Sick Children, 555 University Avenue, Toronto, ON, M5G 1X8, Canada.

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http://dx.doi.org/10.1007/s11011-018-0197-3	DOI Listing

June 2018

De novo exonic mutation in MYH7 gene leading to exon skipping in a patient with early onset muscular weakness and fiber-type disproportion.

Authors:

Sander Pajusalu Inga Talvik Klari Noormets Tiina Talvik Haide Põder Kairit Joost Sanna Puusepp Andres Piirsoo Werner Stenzel Hans H Goebel Tiit Nikopensius Tarmo Annilo Margit Nõukas Andres Metspalu Katrin Õunap Tiia Reimand

Neuromuscul Disord 2016 Mar 3;26(3):236-9. Epub 2015 Dec 3.

Department of Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia; Institute of Biomedicine and Translational Medicine, Department of Biomedicine, University of Tartu, Tartu, Estonia; Department of Pediatrics, University of Tartu, Tartu, Estonia.

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http://dx.doi.org/10.1016/j.nmd.2015.11.011	DOI Listing

March 2016

Distinctive Genetic Profile With IDH1, TP53, and MLH1 Mutations in a Radiation-Induced Anaplastic Astrocytoma.

Authors:

Samantha Mascelli Paolo Nozza Katrin Sak Kairit Joost Armando Cama Valeria Capra Maria Luisa Garrè Alessandro Raso

Pediatr Blood Cancer 2016 Jan 16;63(1):179. Epub 2015 Jul 16.

Istituto Giannina Gaslini, via G. Gaslini 5, 16147 Genoa, Italy.

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http://dx.doi.org/10.1002/pbc.25671	DOI Listing

January 2016

The Frequency of Methylation Abnormalities Among Estonian Patients Selected by Clinical Diagnostic Scoring Systems for Silver-Russell Syndrome and Beckwith-Wiedemann Syndrome.

Authors:

Mari-Anne Vals Maria Yakoreva Tiina Kahre Pille Mee Kai Muru Kairit Joost Rita Teek Lukas Soellner Thomas Eggermann Katrin Õunap

Genet Test Mol Biomarkers 2015 Dec 27;19(12):684-91. Epub 2015 Oct 27.

1 Department of Genetics, United Laboratories, Tartu University Hospital , Tartu, Estonia .

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http://www.liebertpub.com/doi/10.1089/gtmb.2015.0163	Publisher Site
http://dx.doi.org/10.1089/gtmb.2015.0163	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4677517	PMC

December 2015

Analysis of NADP+-dependent isocitrate dehydrogenase-1/2 gene mutations in pediatric brain tumors: report of a secondary anaplastic astrocytoma carrying the IDH1 mutation.

Authors:

Samantha Mascelli Alessandro Raso Roberto Biassoni Mariasavina Severino Katrin Sak Kairit Joost Claudia Milanaccio Salvina Barra Filippo Grillo-Ruggieri Irene Vanni Alessandro Consales Armando Cama Valeria Capra Paolo Nozza Maria Luisa Garrè

J Neurooncol 2012 Sep 22;109(3):477-84. Epub 2012 Jul 22.

Neurosurgery Unit, IRCCS Giannina Gaslini Children's Research Hospital, Genoa, Italy.

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http://link.springer.com/content/pdf/10.1007/s11060-012-0925	Web Search
http://link.springer.com/10.1007/s11060-012-0925-1	Publisher Site
http://dx.doi.org/10.1007/s11060-012-0925-1	DOI Listing

September 2012

The live-birth prevalence of mucopolysaccharidoses in Estonia.

Authors:

Külliki Krabbi Kairit Joost Riina Zordania Inga Talvik Reet Rein Jan G M Huijmans Frans V Verheijen Katrin Õunap

Genet Test Mol Biomarkers 2012 Aug 5;16(8):846-9. Epub 2012 Apr 5.

Institute of Chemistry, Faculty of Sciences, Tallinn University of Technology, Tallinn, Estonia.

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http://www.liebertpub.com/doi/10.1089/gtmb.2011.0307	Publisher Site
http://dx.doi.org/10.1089/gtmb.2011.0307	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3422553	PMC