Publications by authors named "Tiia Reimand"

34Publications

Inter- and Intrafamilial Phenotypic Variability in Individuals with Collagen-Related Osteogenesis Imperfecta.

Clin Transl Sci 2020 Sep 3;13(5):960-971. Epub 2020 Apr 3.

Department of Traumatology and Orthopedics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.

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http://dx.doi.org/10.1111/cts.12783DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7485955PMC
September 2020

PEHO syndrome caused by compound heterozygote variants in ZNHIT3 gene.

Eur J Med Genet 2020 Feb 29;63(2):103660. 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
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6819237PMC
February 2020

Patients with down syndrome have increased prevalence of rheumatoid factor but not autoantibodies to anti-cyclic citrullinated peptide.

Clin Chim Acta 2019 Aug 16;495:40-42. Epub 2019 Mar 16.

Department of Immunology, Institute of Biomedicine and Translational Medicine, Univeresity of Tartu, Ravila 19, Tartu 50411, Estonia. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00098981193171
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http://dx.doi.org/10.1016/j.cca.2019.03.1614DOI Listing
August 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

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

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

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

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

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

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

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

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

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

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

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

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

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

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://linkinghub.elsevier.com/retrieve/pii/S016558761000257
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http://dx.doi.org/10.1016/j.ijporl.2010.05.026DOI Listing
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://search.proquest.com/openview/91fc7e1ca3c4d7eb7c87e389
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http://link.springer.com/10.1007/s00431-009-1058-1
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http://dx.doi.org/10.1007/s00431-009-1058-1DOI Listing
April 2010

Antibodies to neurofilaments.

Ann N Y Acad Sci 2009 Sep;1173:130-6

Immunology Group, Institute of General and Molecular Pathology, University of Tartu, Tartu, Estonia.

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http://dx.doi.org/10.1111/j.1749-6632.2009.04624.xDOI Listing
September 2009

Incontinentia pigmenti in a female conceived by in vitro fertilization.

Am J Med Genet A 2008 Dec;146A(23):3092-4

Department of Immunology, Institute of General and Molecular Pathology, University of Tartu, and Department of Genetics, United Laboratory, Tartu University Hospital, Tartu, Estonia.

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http://dx.doi.org/10.1002/ajmg.a.32565DOI Listing
December 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

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