Publications by authors named "Mari-Anne Vals"

11Publications

International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management.

J Inherit Metab Dis 2020 Jul 18. Epub 2020 Jul 18.

Department of Clinical Genomics and Laboratory of Medical Pathology, Mayo Clinic, Rochester, Minnesota, USA.

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July 2020

A retrospective analysis of the prevalence of imprinting disorders in Estonia from 1998 to 2016.

Authors:

Maria Yakoreva Tiina Kahre Riina Žordania Karit Reinson Rita Teek Vallo Tillmann Aleksandr Peet Eve Õiglane-Shlik Sander Pajusalu Ülle Murumets Mari-Anne Vals Pille Mee Monica H Wojcik Katrin Õunap

Eur J Hum Genet 2019 11 11;27(11):1649-1658. Epub 2019 Jun 11.

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

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November 2019

Clinical, neuroradiological, and biochemical features of SLC35A2-CDG patients.

J Inherit Metab Dis 2019 05 11;42(3):553-564. Epub 2019 Feb 11.

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

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May 2019

International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up.

Authors:

Ruqaiah Altassan Romain Péanne Jaak Jaeken Rita Barone Muad Bidet Delphine Borgel Sandra Brasil David Cassiman Anna Cechova David Coman Javier Corral Joana Correia María Eugenia de la Morena-Barrio Pascale de Lonlay Vanessa Dos Reis Carlos R Ferreira Agata Fiumara Rita Francisco Hudson Freeze Simone Funke Thatjana Gardeitchik Matthijs Gert Muriel Girad Marisa Giros Stephanie Grünewald Trinidad Hernández-Caselles Tomas Honzik Marlen Hutter Donna Krasnewich Christina Lam Joy Lee Dirk Lefeber Dorinda Marques-de-Silva Antonio F Martinez Hossein Moravej Katrin Õunap Carlota Pascoal Tiffany Pascreau Marc Patterson Dulce Quelhas Kimiyo Raymond Peymaneh Sarkhail Manuel Schiff Małgorzata Seroczyńska Mercedes Serrano Nathalie Seta Jolanta Sykut-Cegielska Christian Thiel Federic Tort Mari-Anne Vals Paula Videira Peter Witters Renate Zeevaert Eva Morava

J Inherit Metab Dis 2019 01;42(1):5-28

Department of Clinical Genomics, Mayo Clinic, Rochester, New York.

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January 2019

High incidence of low vitamin B12 levels in Estonian newborns.

Authors:

Karit Reinson Kadi Künnapas Annika Kriisa Mari-Anne Vals Kai Muru Katrin Õunap

Mol Genet Metab Rep 2018 Jun 11;15:1-5. Epub 2018 Jan 11.

Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.

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June 2018

The Prevalence of PMM2-CDG in Estonia Based on Population Carrier Frequencies and Diagnosed Patients.

Authors:

Mari-Anne Vals Sander Pajusalu Mart Kals Reedik Mägi Katrin Õunap

JIMD Rep 2018 7;39:13-17. Epub 2017 Jul 7.

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

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July 2017

Three families with mild PMM2-CDG and normal cognitive development.

Authors:

Mari-Anne Vals Eva Morava Kai Teeäär Riina Zordania Sander Pajusalu Dirk J Lefeber Katrin Õunap

Am J Med Genet A 2017 Jun 19;173(6):1620-1624. Epub 2017 Apr 19.

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

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June 2017

Familial 1.3-Mb 11p15.5p15.4 Duplication in Three Generations Causing Silver-Russell and Beckwith-Wiedemann Syndromes.

Authors:

Mari-Anne Vals Tiina Kahre Pille Mee Kai Muru Eha Kallas Olga Žilina Vallo Tillmann Katrin Õunap

Mol Syndromol 2015 Sep 24;6(3):147-51. Epub 2015 Jul 24.

Department of Genetics, Tartu University Hospital, Tartu, Estonia; Department of Pediatrics, Institute of Molecular and Cell Biology, University of Tartu, Tartu, Estonia.

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September 2015

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

Coffin-Siris Syndrome with obesity, macrocephaly, hepatomegaly and hyperinsulinism caused by a mutation in the ARID1B gene.

Authors:

Mari-Anne Vals Eve Õiglane-Shlik Margit Nõukas Riina Shor Aleksandr Peet Mart Kals Paula Ann Kivistik Andres Metspalu Katrin Õunap

Eur J Hum Genet 2014 Nov 26;22(11):1327-9. Epub 2014 Feb 26.

1] Department of Paediatrics, University of Tartu, Tartu, Estonia [2] United Laboratories, Department of Genetics, Tartu University Hospital, Tartu, Estonia.

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November 2014

Follow-up study of 2-year-olds born at very low gestational age in Estonia.

Authors:

Liis Toome Heili Varendi Mairi Männamaa Mari-Anne Vals Triinu Tänavsuu Anneli Kolk

Acta Paediatr 2013 Mar 11;102(3):300-7. Epub 2012 Dec 11.

Department of Paediatrics, University of Tartu, Tartu, Estonia.

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March 2013