Katrin Ounap

Katrin Ounap

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Katrin Ounap

Publications by authors named "Katrin Ounap"

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FLAD1-associated multiple acyl-CoA dehydrogenase deficiency identified by newborn screening.

Mol Genet Genomic Med 2019 Sep 8;7(9):e915. Epub 2019 Aug 8.

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

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http://dx.doi.org/10.1002/mgg3.915DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6732309PMC
September 2019

Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging.

Am J Hum Genet 2019 Sep 22;105(3):493-508. Epub 2019 Aug 22.

Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Rome, 00146 Italy. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.07.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6731364PMC
September 2019

The evaluation of phenylalanine levels in Estonian phenylketonuria patients during eight years by electronic laboratory records.

Mol Genet Metab Rep 2019 Jun 23;19:100467. Epub 2019 Mar 23.

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

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http://dx.doi.org/10.1016/j.ymgmr.2019.100467DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6434493PMC
June 2019

A prenatally diagnosed case of Meckel-Gruber syndrome with novel compound heterozygous pathogenic variants in the TXNDC15 gene.

Mol Genet Genomic Med 2019 05 9;7(5):e614. Epub 2019 Mar 9.

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

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http://dx.doi.org/10.1002/mgg3.614DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6503012PMC
May 2019

PEHO syndrome caused by compound heterozygote variants in ZNHIT3 gene.

Eur J Med Genet 2019 Apr 29. Epub 2019 Apr 29.

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

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http://dx.doi.org/10.1016/j.ejmg.2019.04.017DOI Listing
April 2019

Neurologic phenotypes associated with / mutations: Expanding the spectrum of disease.

Neurology 2018 11 9;91(22):e2078-e2088. Epub 2018 Nov 9.

From the Department of Clinical and Experimental Epilepsy (S.Z., Z.M., L.H.-H., S.K., S. Balestrini, S.M.S.) and Division of Neuropathology (Z.M., M.T.), UCL Institute of Neurology, London, UK; Clinic of Neurology (S.Z.), Department of Experimental and Clinical Medicine, Marche Polytechnic University, Ancona, Italy; Department of Pediatric Neurology and Neurological Rehabilitation (C.S., T.H., P.W., G.J.K.) and Neurosurgery Clinic and Clinic for Epilepsy Surgery (M.K.), Schön Klinik Vogtareuth; Department of Pediatrics (C.S., M.S.), Children's Hospital Augsburg, Germany; UCL Great Ormond Street Institute of Child Health (J.R.N., K.V., S.M.V., J.H.C.), London, UK; Paediatric Neurology and Neurogenetics Unit and Laboratories (D.M., R.G.), A. Meyer Children's Hospital, University of Florence, Italy; Chalfont Centre for Epilepsy (Z.M., L.H.-H., S.K., S. Balestrini, S.M.S.), Chalfont-St-Peter, Buckinghamshire, UK; CeGaT-Center for Genomics and Transcriptomics (A.P., S. Biskup), Tübingen, Germany; Neurogenetics Unit (M.L.), Department of Medical Genetics, Hospital de São João, Porto, Portugal; Department of Pediatrics and Adolescent Medicine (J.G.), University Medical Center Göttingen; Hospital for Children and Adolescents (A.M.), University Clinic Leipzig, Germany; Freiburg Medical Laboratory (M.J.), Dubai; The Danish Epilepsy Centre (R.S.M., E.G.), Dianalund; Institute for Regional Health Services (R.S.M., E.G.), University of Southern Denmark, Odense; Department of Clinical Genetics (B.S.K.), Odense University Hospital; Hans Christian Andersen Children's Hospital (L.K.H.), Odense, Denmark; Pediatric Neurology and Muscular Diseases Unit (M.S.V., P.S.), Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, and Maternal and Child Health, University of Genoa "G. Gaslini" Institute, Italy; Division of Neurology (K.L.H.), Children's Hospital of Philadelphia, PA; Department of Neurology (S.D., C.L.S.-H.), Division of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD; Center for Genomic Medicine (N.H.-F.), Tohoku University; Department of Pediatrics (N.H.-F.), Tohoku University School of Medicine, Sendai, Japan; Department of Pediatrics (T.T., R.L.) and Institute of Clinical Medicine (K.O.), University of Tartu; Children's Clinic (T.T., R.L.), Department of Radiology (P.I.), and Department of Clinical Genetics, United Laboratories (K.O.), Tartu University Hospital, Estonia; Ludwig-Maximilians-University Munich (I.K.); Department of Pediatric Neurology (A.H.), Clinic Traunstein; Children's Hospital (M.K.), Dr. Horst Schmidt Klinik, Wiesbaden; Altona Children's Hospital (J.H.), Hamburg; Department of Pediatrics (C. Makowski), Technische Universität München, Germany; Department of Clinical Genetics (S.G.), Royal North Shore Hospital, St Leonards; John Hunter Children's Hospital (G.M.S.), New Lambton Heights, New South Wales, Australia; Department of Neurology (R.T.), University Hospital of Wales; Institute of Psychological Medicine and Clinical Neurosciences (R.H.T.), Cardiff University; Division of Neuroradiology (C. Micallef), National Hospital for Neurology and Neurosurgery, London; Department of Brain Repair & Rehabilitation (D.J.W.), Stroke Research Centre, UCL Institute of Neurology, London, UK; Paracelsus Medical University (G.J.K.), Salzburg, Austria; and IRCCS Stella Maris Foundation (R.G.), Pisa, Italy.

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http://www.neurology.org/lookup/doi/10.1212/WNL.000000000000
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http://dx.doi.org/10.1212/WNL.0000000000006567DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6282239PMC
November 2018

Diverse phenotype in patients with complex I deficiency due to mutations in NDUFB11.

Eur J Med Genet 2018 Nov 10. Epub 2018 Nov 10.

Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2018.11.006DOI Listing
November 2018

Incidence of Childhood Epilepsy in Estonia.

J Child Neurol 2018 08 4;33(9):587-592. Epub 2018 Jun 4.

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

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http://dx.doi.org/10.1177/0883073818776760DOI Listing
August 2018

A New Case of a Rare Combination of Temple Syndrome and Mosaic Trisomy 14 and a Literature Review.

Mol Syndromol 2018 Jul 18;9(4):182-189. Epub 2018 May 18.

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

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https://www.karger.com/Article/FullText/489446
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http://dx.doi.org/10.1159/000489446DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6117659PMC
July 2018

High incidence of low vitamin B12 levels in Estonian newborns.

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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http://dx.doi.org/10.1016/j.ymgmr.2017.11.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5772002PMC
June 2018

Effectiveness of whole exome sequencing in unsolved patients with a clinical suspicion of a mitochondrial disorder in Estonia.

Mol Genet Metab Rep 2018 Jun 15;15:80-89. Epub 2018 Mar 15.

Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, 2 L. Puusepa Street, Tartu 51014, Estonia.

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http://dx.doi.org/10.1016/j.ymgmr.2018.03.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6043467PMC
June 2018

Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia.

Am J Hum Genet 2018 05 12;102(5):744-759. Epub 2018 Apr 12.

Service de Génétique Médicale, CHU Nantes, 9 quai Moncousu, 44093 Nantes Cedex 1, France; l'institut du thorax, INSERM, CNRS, UNIV Nantes, 44007 Nantes, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.02.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5986661PMC
May 2018

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.

Authors:
Fadi F Hamdan Candace T Myers Patrick Cossette Philippe Lemay Dan Spiegelman Alexandre Dionne Laporte Christina Nassif Ousmane Diallo Jean Monlong Maxime Cadieux-Dion Sylvia Dobrzeniecka Caroline Meloche Kyle Retterer Megan T Cho Jill A Rosenfeld Weimin Bi Christine Massicotte Marguerite Miguet Ledia Brunga Brigid M Regan Kelly Mo Cory Tam Amy Schneider Georgie Hollingsworth David R FitzPatrick Alan Donaldson Natalie Canham Edward Blair Bronwyn Kerr Andrew E Fry Rhys H Thomas Joss Shelagh Jane A Hurst Helen Brittain Moira Blyth Robert Roger Lebel Erica H Gerkes Laura Davis-Keppen Quinn Stein Wendy K Chung Sara J Dorison Paul J Benke Emily Fassi Nicole Corsten-Janssen Erik-Jan Kamsteeg Frederic T Mau-Them Ange-Line Bruel Alain Verloes Katrin Õunap Monica H Wojcik Dara V F Albert Sunita Venkateswaran Tyson Ware Dean Jones Yu-Chi Liu Shekeeb S Mohammad Peyman Bizargity Carlos A Bacino Vincenzo Leuzzi Simone Martinelli Bruno Dallapiccola Marco Tartaglia Lubov Blumkin Klaas J Wierenga Gabriela Purcarin James J O'Byrne Sylvia Stockler Anna Lehman Boris Keren Marie-Christine Nougues Cyril Mignot Stéphane Auvin Caroline Nava Susan M Hiatt Martina Bebin Yunru Shao Fernando Scaglia Seema R Lalani Richard E Frye Imad T Jarjour Stéphanie Jacques Renee-Myriam Boucher Emilie Riou Myriam Srour Lionel Carmant Anne Lortie Philippe Major Paola Diadori François Dubeau Guy D'Anjou Guillaume Bourque Samuel F Berkovic Lynette G Sadleir Philippe M Campeau Zoha Kibar Ronald G Lafrenière Simon L Girard Saadet Mercimek-Mahmutoglu Cyrus Boelman Guy A Rouleau Ingrid E Scheffer Heather C Mefford Danielle M Andrade Elsa Rossignol Berge A Minassian Jacques L Michaud

Am J Hum Genet 2017 Nov;101(5):664-685

Centre Hospitalier Universitaire Sainte-Justine Research Center, Montreal, QC H3T1C5, Canada; Department of Neurosciences, Université de Montréal, Montreal, QC H3T1J4, Canada; Department of Pediatrics, Université de Montréal, Montreal, QC H3T1C5, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.09.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5673604PMC
November 2017

Fertility in adult women with classic galactosemia and primary ovarian insufficiency.

Fertil Steril 2017 07 1;108(1):168-174. Epub 2017 Jun 1.

Department of Pediatrics and Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.fertnstert.2017.05.013DOI Listing
July 2017

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

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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http://link.springer.com/10.1007/8904_2017_41
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http://dx.doi.org/10.1007/8904_2017_41DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5953896PMC
July 2017

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

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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http://dx.doi.org/10.1002/ajmg.a.38235DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5444958PMC
June 2017

CDKL5 Gene-Related Epileptic Encephalopathy in Estonia: Four Cases, One Novel Mutation Causing Severe Phenotype in a Boy, and Overview of the Literature.

Neuropediatrics 2016 Dec 6;47(6):361-367. Epub 2016 Sep 6.

Department of Neurology and Neurorehabilitation, Children's Clinic, Tartu University Hospital, Tartu, Estonia.

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http://dx.doi.org/10.1055/s-0036-1586730DOI Listing
December 2016

Ocular Manifestation of Pathogenic Variants.

Pediatr Neurol Briefs 2016 Dec;30(12):46

Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia; Department of Paediatrics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.

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http://dx.doi.org/10.15844/pedneurbriefs-30-12-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5133045PMC
December 2016

Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.

Nat Genet 2016 10 29;48(10):1185-92. Epub 2016 Aug 29.

Faculty of Biology, Medicine and Health, School of Biological Sciences, Division of Evolution and Genomic Sciences, University of Manchester, Manchester, UK.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5045717PMC
http://dx.doi.org/10.1038/ng.3661DOI Listing
October 2016

An 8.4-Mb 3q26.33-3q28 microdeletion in a patient with blepharophimosis-intellectual disability syndrome and a review of the literature.

Clin Case Rep 2016 08 22;4(8):824-30. Epub 2016 Jul 22.

Department of Genetics United Laboratories Tartu University Hospital Tartu Estonia.

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http://dx.doi.org/10.1002/ccr3.632DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4974439PMC
August 2016

Silver-Russell Syndrome and Beckwith-Wiedemann Syndrome: Opposite Phenotypes with Heterogeneous Molecular Etiology.

Authors:
Katrin Õunap

Mol Syndromol 2016 Jul 6;7(3):110-21. Epub 2016 Jul 6.

Department of Genetics, United Laboratories, Tartu University Hospital, and Department of Pediatrics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.

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http://dx.doi.org/10.1159/000447413DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4988259PMC
July 2016

Two familial microduplications of 15q26.3 causing overgrowth and variable intellectual disability with normal copy number of IGF1R.

Eur J Med Genet 2016 Apr 12;59(4):257-62. Epub 2015 Dec 12.

Genetics of Learning Disability Service, Hunter Genetics, Waratah, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2015.12.002DOI Listing
April 2016

Diffuse hypomyelination is not obligate for POLR3-related disorders.

Neurology 2016 Apr 30;86(17):1622-6. Epub 2016 Mar 30.

From the Laboratory of Neurogenetics of Motion (R.L.P.) and Department of Neuroradiology (R.L.P.), Montreal Neurological Institute and Hospital, and the Departments of Neurology and Neurosurgery (R.L.P., L.T.T., K.G., G.B.) and Pediatrics (R.L.P., L.T.T., K.G., G.B.), McGill University, Montreal, Canada; Departments of Child Neurology (F.K.C., M.S.v.d.K., N.I.W.) and Clinical Genetics (F.K.C., R.v.S.), VU University Medical Center, Amsterdam, the Netherlands; Department of Genetics (K.Õ.) United Laboratories, Tartu University Hospital, Tartu; Department of Pediatrics (K.Õ.), University of Tartu, Estonia; Institute of Human Genetics (T.H.), Technische Universität München; Institute of Human Genetics (T.H.), Helmholtz Zentrum München, Munich, Germany; Department of Neurology (E.W.), Birmingham Children's Hospital, UK; Department of Neurology (D.T.), University Clinic Essen, University of Duisburg-Essen, Germany; Department of Child and Adolescent Neurology (H.M.), Institute of Mother and Child, Warsaw, Poland; Department of Child Neurology (B.T.P.), AMC Academic Medical Center, Amsterdam, the Netherlands; West Midlands Regional Clinical Genetics Unit (C.P., H.C.), Birmingham Women's Hospital, UK; Departments of Pediatrics (T.A.) and Medical Genetics (H.O.), Faculty of Medicine (F.O.), Ege University, Izmir, Turkey; Department of Neurology (A.V.), Children's National Health System, Washington, DC; Neuroscience Campus Amsterdam (M.S.v.d.K., N.I.W.), the Netherlands; and Department of Medical Genetics (G.B.), Montreal Children's Hospital, McGill University Health Center, Montreal, Canada.

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http://dx.doi.org/10.1212/WNL.0000000000002612DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4844237PMC
April 2016

De novo deletion of HOXB gene cluster in a patient with failure to thrive, developmental delay, gastroesophageal reflux and bronchiectasis.

Eur J Med Genet 2015 Jun-Jul;58(6-7):336-40. Epub 2015 Apr 20.

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

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http://dx.doi.org/10.1016/j.ejmg.2015.04.002DOI Listing
March 2016

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

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.2015.11.011DOI Listing
March 2016

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

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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http://dx.doi.org/10.1159/000437061DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4698645PMC
September 2015

The Diagnostic Utility of Single Long Contiguous Stretches of Homozygosity in Patients without Parental Consanguinity.

Mol Syndromol 2015 Sep 15;6(3):135-40. Epub 2015 Aug 15.

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

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http://dx.doi.org/10.1159/000438776DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4698626PMC
September 2015

Novel homozygous mutation in KPTN gene causing a familial intellectual disability-macrocephaly syndrome.

Am J Med Genet A 2015 Aug 5;167A(8):1913-5. Epub 2015 Apr 5.

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

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http://dx.doi.org/10.1002/ajmg.a.37105DOI Listing
August 2015

Mutations in the intellectual disability gene KDM5C reduce protein stability and demethylase activity.

Hum Mol Genet 2015 May 9;24(10):2861-72. Epub 2015 Feb 9.

Department of Cell Biology, Harvard Medical School, Boston, MA 02115, USA, Division of Newborn Medicine, Boston Children's Hospital, MA 02115, USA,

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https://academic.oup.com/hmg/article-lookup/doi/10.1093/hmg/
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http://dx.doi.org/10.1093/hmg/ddv046DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4406297PMC
May 2015

Mosaicism for maternal uniparental disomy 15 in a boy with some clinical features of Prader-Willi syndrome.

Eur J Med Genet 2014 May-Jun;57(6):279-83. Epub 2014 Apr 2.

Department of Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia; Department of Pediatrics, University of Tartu, Tartu, Estonia. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2014.03.007DOI Listing
February 2015

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

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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http://dx.doi.org/10.1038/ejhg.2014.25DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4200437PMC
November 2014

Novel (ovario) leukodystrophy related to AARS2 mutations.

Neurology 2014 Jun 7;82(23):2063-71. Epub 2014 May 7.

From the Department of Life Sciences (C.D., E.B., I.F.), University of Parma; Unit of Molecular Neurogenetics (D.D., L.M., C.L., D.G.), SOSD Genetics of Neurodegenerative and Metabolic Diseases (C.M.), and Departments of Clinical Neurosciences (E.S.) and Neuroradiology (M.S.), Fondazione Istituto Neurologico Carlo Besta, Istituto di Ricovero e Cura a Carattere Scientifico, Milan, Italy; Department of Child Neurology (S.H.K., E.M.H., T.E.M.A., N.I.W., M.S.v.d.K.), Department of Clinical Chemistry, Metabolic Unit (G.S.S.), Neuroscience Campus Amsterdam, and Department of Functional Genomics, Center for Neurogenomics and Cognitive Research (M.S.v.d.K.), VU University Medical Center, Amsterdam, the Netherlands; Institute of Human Genetics (T.B.H., T.M.S., T.M., H.P.), Technical University, Munich; Institute of Human Genetics (T.B.H., T.M.S., T.M., H.P.), Helmholtz Zentrum Munich, Neuherberg, Germany; Department of Molecular and Human Genetics (L.-J.W.), Baylor College of Medicine, Houston, TX; Department of Genetics (K.C.), and Center for Genetic Medicine Research, Department of Neurology (A.V.), Children's National Medical Center, Washington, DC; Department of Clinical Genetics (A.C.), Liverpool Hospital, Sydney, Australia; Neurology Department (H.R.), Centro Hospitalar São João, and Department of Clinical Neuroscience and Mental Health, Faculty of Medicine, University of Porto, Portugal; Medical Genetics Center (K.Ő.), United Laboratories, Tartu University Clinics, Estonia; Institute of Metabolic Disease (R.S.), Baylor Research Institute, Dallas, TX; and Mitochondrial Biology Unit-MRC (M.Z.), Cambridge, UK.

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http://www.neurology.org/content/82/23/2063.full.pdf
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http://www.neurology.org/cgi/doi/10.1212/WNL.000000000000049
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http://dx.doi.org/10.1212/WNL.0000000000000497DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4118500PMC
June 2014

Monosomy 1p36 - a multifaceted and still enigmatic syndrome: four clinically diverse cases with shared white matter abnormalities.

Eur J Paediatr Neurol 2014 May 25;18(3):338-46. Epub 2014 Jan 25.

Department of Pediatrics, Faculty of Medicine, University of Tartu, Tartu, Estonia; Department of Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.

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http://dx.doi.org/10.1016/j.ejpn.2014.01.008DOI Listing
May 2014

Clinical assessment of five patients with BRWD3 mutation at Xq21.1 gives further evidence for mild to moderate intellectual disability and macrocephaly.

Eur J Med Genet 2014 Apr 22;57(5):200-6. Epub 2014 Jan 22.

Department of Genetics, Rouen University Hospital, Rouen, France; Inserm U1079, Rouen, France; Normandie University, IRIB, Rouen, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2013.12.012DOI Listing
April 2014

A patient with the classic features of Phelan-McDermid syndrome and a high immunoglobulin E level caused by a cryptic interstitial 0.72-Mb deletion in the 22q13.2 region.

Am J Med Genet A 2014 Mar 20;164A(3):806-9. Epub 2013 Dec 20.

Department of Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia; Medical Faculty, University of Tartu, Tartu, Estonia.

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http://dx.doi.org/10.1002/ajmg.a.36358DOI Listing
March 2014

Chromosomal microarray analysis as a first-tier clinical diagnostic test: Estonian experience.

Mol Genet Genomic Med 2014 Mar 9;2(2):166-75. Epub 2014 Jan 9.

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

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http://dx.doi.org/10.1002/mgg3.57DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3960059PMC
March 2014

Patient with dup(5)(q35.2-q35.3) reciprocal to the common Sotos syndrome deletion and review of the literature.

Eur J Med Genet 2013 Apr 28;56(4):202-6. Epub 2013 Jan 28.

Department of Biotechnology, Institute of Molecular and Cell Biology, University of Tartu, 23 Riia Street, 51010 Tartu, Estonia.

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http://linkinghub.elsevier.com/retrieve/pii/S176972121300026
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http://dx.doi.org/10.1016/j.ejmg.2013.01.008DOI Listing
April 2013

The live-birth prevalence of mucopolysaccharidoses in Estonia.

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
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http://dx.doi.org/10.1089/gtmb.2011.0307DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3422553PMC
August 2012

A novel c.2T > C mutation of the KDM5C/JARID1C gene in one large family with X-linked intellectual disability.

Eur J Med Genet 2012 Mar 21;55(3):178-84. Epub 2012 Jan 21.

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

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http://dx.doi.org/10.1016/j.ejmg.2012.01.004DOI Listing
March 2012

Genotype-phenotype correlations in patients with retinoblastoma and interstitial 13q deletions.

Eur J Hum Genet 2011 Sep 20;19(9):947-58. Epub 2011 Apr 20.

Institut für Humangenetik, Universitätsklinikum Essen, Philipp-Rosenthal-Straße 55, Leipzig, Germany.

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http://dx.doi.org/10.1038/ejhg.2011.58DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3179359PMC
September 2011

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

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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http://dx.doi.org/10.1016/j.ijporl.2010.05.026DOI Listing
September 2010

Prospective experience with contingent screening strategy for Down syndrome in Estonia.

J Community Genet 2010 Sep 2;1(3):133-8. Epub 2010 Oct 2.

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

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http://dx.doi.org/10.1007/s12687-010-0020-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3185994PMC
September 2010

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

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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http://link.springer.com/10.1007/s00431-009-1058-1
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April 2010

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

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

Prevalence of the fragile X syndrome among Estonian mentally retarded and the entire children's population.

J Child Neurol 2008 Dec;23(12):1400-5

Department of Pediatrics, University of Tartu, Estonia.

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http://dx.doi.org/10.1177/0883073808319071DOI Listing
December 2008

Girl with partial Turner syndrome and absence epilepsy.

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

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

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http://dx.doi.org/10.1016/j.pediatrneurol.2007.11.008DOI Listing
April 2008

Descriptive epidemiology of Down's syndrome in Estonia.

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

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

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http://dx.doi.org/10.1111/j.1365-3016.2006.00758.xDOI Listing
November 2006

A new case of 2q duplication supports either a locus for orofacial clefting between markers D2S1897 and D2S2023 or a locus for cleft palate only on chromosome 2q13-q21.

Am J Med Genet A 2005 Sep;137A(3):323-7

Medical Genetics Center, United Laboratories, Tartu University Clinics, Tartu, Estonia.

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http://dx.doi.org/10.1002/ajmg.a.30890DOI Listing
September 2005

A female with Angelman syndrome and unusual limb deformities.

Pediatr Neurol 2005 Jul;33(1):66-9

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

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http://dx.doi.org/10.1016/j.pediatrneurol.2005.02.004DOI Listing
July 2005

A girl with inverted triplication of chromosome 3q25.3 --> q29 and multiple congenital anomalies consistent with 3q duplication syndrome.

Am J Med Genet A 2005 May;134(4):434-8

Medical Genetics Center, United Laboratories, Tartu University Clinics, Tartu, Estonia.

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http://dx.doi.org/10.1002/ajmg.a.30134DOI Listing
May 2005

MECP2 mutation analysis in patients with mental retardation.

Am J Med Genet A 2005 Jan;132A(2):121-4

Department of Molecular Medicine, National Public Health Institute, Helsinki, Finland.

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http://doi.wiley.com/10.1002/ajmg.a.30416
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January 2005

Two sisters with Silver-Russell phenotype.

Am J Med Genet A 2004 Dec;131(3):301-6

Medical Genetics Center, United Laboratories, Tartu University Clinics, Tartu 51005 , Estonia.

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http://dx.doi.org/10.1002/ajmg.a.30379DOI Listing
December 2004

DiGeorge/velocardiofacial syndrome: FISH studies of chromosomes 22q11 and 10p14, and clinical reports on the proximal 22q11 deletion.

Am J Med Genet A 2003 Feb;117A(1):1-5

Institut für Klinische Genetik, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.

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http://dx.doi.org/10.1002/ajmg.a.10914DOI Listing
February 2003

Girl with combined cellular immunodeficiency, pancytopenia, malformations, deletion 11q23.3 --> qter, and trisomy 8q24.3 --> qter.

Am J Med Genet 2002 Apr;108(4):322-6

Medical Genetic Center, Tartu University Clinics, Tartu, Estonia.

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http://dx.doi.org/10.1002/ajmg.10284DOI Listing
April 2002