Publications by authors named "Kairit Joost"

12Publications

Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency.

EMBO J 2020 Dec 31;39(23):e105364. Epub 2020 Oct 31.

Department of Clinical Neurosciences, School of Clinical Medicine, University of Cambridge, Cambridge, UK.

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December 2020

A very early diagnosis of Alstrӧm syndrome by next generation sequencing.

Authors:

Leonardo Gatticchi Jan Miertus Paolo Enrico Maltese Simone Bressan Luca De Antoni Ludmila Podracká Lucia Piteková Vanda Rísová Mari Mällo Kaie Jaakson Kairit Joost Leonardo Colombo Matteo Bertelli

BMC Med Genet 2020 09 1;21(1):173. Epub 2020 Sep 1.

MAGI's Lab, Genetic Testing Laboratory, Via Delle Maioliche 57/D, 38068, Rovereto, TN, Italy.

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September 2020

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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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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March 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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December 2015

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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January 2016

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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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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August 2012

Prevalence of c.35delG and p.M34T mutations in the GJB2 gene in Estonia.

Authors:

Rita Teek Katrin Kruustük Riina Zordania Kairit Joost Tiia Reimand Tõnu Möls Eneli Oitmaa Tiina Kahre Neeme Tõnisson Katrin Ounap

Int J Pediatr Otorhinolaryngol 2010 Sep 18;74(9):1007-12. Epub 2010 Jun 18.

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

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September 2010

A novel mutation in the SCO2 gene in a neonate with early-onset cardioencephalomyopathy.

Authors:

Kairit Joost Richard Rodenburg Andres Piirsoo Bert van den Heuvel Riina Zordania Katrin Ounap

Pediatr Neurol 2010 Mar;42(3):227-30

Tallinn Children's Hospital, Tallinn, Estonia.

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March 2010

Classical galactosemia in Estonia: selective neonatal screening, incidence, and genotype/phenotype data of diagnosed patients.

Authors:

Katrin Ounap Kairit Joost Triinu Temberg Külliki Krabbi Neeme Tõnisson

J Inherit Metab Dis 2010 Apr 12;33(2):175-6. Epub 2010 Feb 12.

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April 2010

Splice variant IVS2-2A>G in the SLC26A5 (Prestin) gene in five Estonian families with hearing loss.

Authors:

Rita Teek Eneli Oitmaa Katrin Kruustük Riina Zordania Kairit Joost Elve Raukas Neeme Tõnisson Phyllis Gardner Iris Schrijver Mart Kull Katrin Ounap

Int J Pediatr Otorhinolaryngol 2009 Jan 22;73(1):103-7. Epub 2008 Nov 22.

Department of Oto-Rhino-Laryngology, University of Tartu, Tartu, Estonia.

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January 2009