List of works - Tiia Reimand

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

scientific article published on 21 January 2012

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

scientific article published on 22 July 2016

Biallelic CACNA1A mutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophy

scientific article published on 2 June 2016

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

scientific article published on 6 September 2016

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

scientific article published on 09 January 2014

Creating basis for introducing non-invasive prenatal testing in the Estonian public health setting

scientific article published on 06 November 2019

De novo SCN8A mutation identified by whole-exome sequencing in a boy with neonatal epileptic encephalopathy, multiple congenital anomalies, and movement disorders

scientific article

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

scientific article

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

scientific article published on 3 December 2015

Descriptive epidemiology of Down's syndrome in Estonia

scientific article published in November 2006

Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome

scientific article published on 26 February 2009

From late fatherhood to prenatal screening of monogenic disorders: evidence and ethical concerns

scientific article published on 02 July 2021

Incontinentia pigmenti in a female conceived by in vitro fertilization

scientific article

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

scientific article published on 20 September 2009

Molecular diagnosis of Down syndrome using quantitative APEX-2 microarrays

scientific article published in December 2010

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

scientific article published on 25 January 2014

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

scientific article published in January 2003

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

scientific article published on 18 June 2010

Prospective experience with contingent screening strategy for Down syndrome in Estonia

scientific article

Screening for celiac disease in Down's syndrome patients revealed cases of subtotal villous atrophy without typical for celiac disease HLA-DQ and tissue transglutaminase antibodies

scientific article published in March 2006

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

scientific article published on 15 August 2015

List of works by Tiia Reimand

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

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

Biallelic CACNA1A mutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophy

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

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

Creating basis for introducing non-invasive prenatal testing in the Estonian public health setting

De novo SCN8A mutation identified by whole-exome sequencing in a boy with neonatal epileptic encephalopathy, multiple congenital anomalies, and movement disorders

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

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

Descriptive epidemiology of Down's syndrome in Estonia

Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome

From late fatherhood to prenatal screening of monogenic disorders: evidence and ethical concerns

Incontinentia pigmenti in a female conceived by in vitro fertilization

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

Molecular diagnosis of Down syndrome using quantitative APEX-2 microarrays

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

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

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

Prospective experience with contingent screening strategy for Down syndrome in Estonia

Screening for celiac disease in Down's syndrome patients revealed cases of subtotal villous atrophy without typical for celiac disease HLA-DQ and tissue transglutaminase antibodies

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