Riina Zordania

Department of Genetics, United Medix Laboratories Ltd., 00380 Helsinki, Finland ; Department of Clinical Genetics, Helsinki University Central Hospital, 00290 Helsinki, Finland.

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November 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

Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients.

Authors:

Kristien P Hoornaert Inge Vereecke Chantal Dewinter Thomas Rosenberg Frits A Beemer Jules G Leroy Laila Bendix Erik Björck Maryse Bonduelle Odile Boute Valerie Cormier-Daire Christine De Die-Smulders Anne Dieux-Coeslier Hélène Dollfus Mariet Elting Andrew Green Veronica I Guerci Raoul C M Hennekam Yvonne Hilhorts-Hofstee Muriel Holder Carel Hoyng Kristi J Jones Dragana Josifova Ilkka Kaitila Suzanne Kjaergaard Yolande H Kroes Kristina Lagerstedt Melissa Lees Martine Lemerrer Cinzia Magnani Carlo Marcelis Loreto Martorell Michèle Mathieu Meriel McEntagart Angela Mendicino Jenny Morton Gabrielli Orazio Véronique Paquis Orit Reish Kalle O J Simola Sarah F Smithson Karen I Temple Elisabeth Van Aken Yolande Van Bever Jenneke van den Ende Johanna M Van Hagen Leopoldo Zelante Riina Zordania Anne De Paepe Bart P Leroy Marc De Buyzere Paul J Coucke Geert R Mortier

Eur J Hum Genet 2010 Aug 24;18(8):872-80. Epub 2010 Feb 24.

Center for Medical Genetics, Ghent University Hospital, Gent, Belgium. [corrected]

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August 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

LEOPARD syndrome with recurrent PTPN11 mutation Y279C and different cutaneous manifestations: two case reports and a review of the literature.

Authors:

Ingrid Kalev Kai Muru Rita Teek Riina Zordania Tiia Reimand Kristel Köbas Katrin Ounap

Eur J Pediatr 2010 Apr 20;169(4):469-73. Epub 2009 Sep 20.

Department of Human Biology and Genetics, Institute of General and Molecular Pathology, University of Tartu, Tartu, Estonia.

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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

Girl with partial Turner syndrome and absence epilepsy.

Authors:

Helen Puusepp Riina Zordania Mare Paal Oliver Bartsch Katrin Ounap

Pediatr Neurol 2008 Apr;38(4):289-92

Department of Pediatrics, University of Tartu, Tartu, Estonia.

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April 2008

Descriptive epidemiology of Down's syndrome in Estonia.

Authors:

Tiia Reimand Katrin Ounap Riina Zordania Tiiu Ilus Oivi Uibo Mari Sitska Tiina Talvik

Paediatr Perinat Epidemiol 2006 Nov;20(6):512-9

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

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November 2006

Prevalence of Angelman syndrome and Prader-Willi syndrome in Estonian children: sister syndromes not equally represented.

Authors:

Eve Oiglane-Shlik Tiina Talvik Riina Zordania Haide Põder Tiina Kahre Elve Raukas Tiiu Ilus Gunnar Tasa Oliver Bartsch Marja-Leena Väisänen Katrin Ounap

Am J Med Genet A 2006 Sep;140(18):1936-43

Department of Pediatrics, University of Tartu, Tartu, Estonia.

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September 2006

The neonatal phenotype of Prader-Willi syndrome.

Authors:

Eve Oiglane-Shlik Riina Zordania Heili Varendi Anne Antson Marja-Liis Mägi Gunnar Tasa Oliver Bartsch Tiina Talvik Katrin Ounap

Am J Med Genet A 2006 Jun;140(11):1241-4

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June 2006

Parents' satisfaction with medical and social assistance provided to children with Down syndrome: experience in Estonia.

Authors:

Tiia Reimand Oivi Uibo Riina Zordania Veronika Palmiste Katrin Ounap Tiina Tqlvik

Community Genet 2003 ;6(3):166-70

Department of Paediatrics, University of Tartu, Estonia.

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August 2004

Publications by authors named "Riina Zordania"

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