Lista de obras - Kristiina Tammimies - Dominio Público Uruguay

2D:4D Ratio in Neurodevelopmental Disorders: A Twin Study

Association between Copy Number Variation and Response to Social Skills Training in Autism Spectrum Disorder

scientific article published on 08 July 2019

Brain-expressed exons under purifying selection are enriched for de novo mutations in autism spectrum disorder

artículo científico publicado en 2014

Ciliary dyslexia candidate genes DYX1C1 and DCDC2 are regulated by Regulatory Factor X (RFX) transcription factors through X-box promoter motifs

artículo científico publicado en 2016

Clinical versus automated assessments of morphological variants in twins with and without neurodevelopmental disorders

scientific article published on 12 March 2020

Copy Number Variation Analysis of 100 Twin Pairs Enriched for Neurodevelopmental Disorders

artículo científico publicado en 2018

Copy number variation in Han Chinese individuals with autism spectrum disorder

artículo científico publicado en 2014

De novo exon 1 deletion of AUTS2 gene in a patient with autism spectrum disorder and developmental delay: a case report and a brief literature review.

artículo científico publicado en 2015

Derivation of human iPS cell lines from monozygotic twins in defined and xeno free conditions

artículo científico publicado en 2016

Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes

artículo científico publicado en 2013

Dynamical features in fetal and postnatal zinc-copper metabolic cycles predict the emergence of autism spectrum disorder.

artículo científico publicado en 2018

Dynamical properties of elemental metabolism distinguish attention deficit hyperactivity disorder from autism spectrum disorder

artículo científico publicado en 2019

EU-AIMS Longitudinal European Autism Project (LEAP): the autism twin cohort

artículo científico publicado en 2018

Enrichment of rare copy number variation in children with developmental language disorder

artículo científico publicado en 2018

Fetal and postnatal metal dysregulation in autism

artículo científico publicado en 2017

Functional interaction of DYX1C1 with estrogen receptors suggests involvement of hormonal pathways in dyslexia

artículo científico publicado en 2009

Genetic mechanisms of regression in autism spectrum disorder

scientific article published on 03 May 2019

Genome-wide characteristics of de novo mutations in autism

artículo científico publicado en 2016

Human LUHMES and NES cells as models for studying primary cilia in neurons

artículo científico publicado en 2023

Hypogonadotrophic hypogonadism, delayed puberty and risk for neurodevelopmental disorders

scientific article published on 12 November 2019

Increased expression of the dyslexia candidate gene DCDC2 affects length and signaling of primary cilia in neurons

artículo científico publicado en 2011

Indexing Effects of Copy Number Variation on Genes Involved in Developmental Delay

artículo científico publicado en 2016

Intracellular signalling pathways and cytoskeletal functions converge on the psoriasis candidate gene CCHCR1 expressed at P-bodies and centrosomes.

artículo científico publicado en 2018

Long-term social skills group training for children and adolescents with autism spectrum disorder: a randomized controlled trial

artículo científico publicado en 2018

Medical history of discordant twins and environmental etiologies of autism

artículo científico publicado en 2017

Minor physical anomalies in neurodevelopmental disorders: a twin study

artículo científico publicado en 2017

Modeling SHH-driven medulloblastoma with patient iPS cell-derived neural stem cells

artículo científico publicado en 2020

Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder

artículo científico publicado en 2015

Molecular networks of DYX1C1 gene show connection to neuronal migration genes and cytoskeletal proteins

artículo científico publicado en 2012

Predictive impact of rare genomic copy number variations in siblings of individuals with autism spectrum disorders

scientific article published on 05 December 2019

Presynaptic dysfunction in CASK-related neurodevelopmental disorders

scientific article published on 14 September 2020

Quo Vadis clinical genomics of ASD?

artículo científico publicado en 2016

Rare de novo deletion of metabotropic glutamate receptor 7 (GRM7) gene in a patient with autism spectrum disorder

artículo científico

Recurrence quantification analysis to characterize cyclical components of environmental elemental exposures during fetal and postnatal development

artículo científico publicado en 2017

SNP variations in the 7q33 region containing DGKI are associated with dyslexia in the Finnish and German populations.

artículo científico publicado en 2011

Social Skills Training for Children and Adolescents With Autism Spectrum Disorder: A Randomized Controlled Trial

artículo científico publicado en 2017

Subtly altered topological asymmetry of brain structural covariance networks in autism spectrum disorder across 43 datasets from the ENIGMA consortium

artículo científico publicado en 2022

Synaptic, transcriptional and chromatin genes disrupted in autism

artículo científico publicado en 2014

The Roots of Autism and ADHD Twin Study in Sweden (RATSS).

artículo científico publicado en 2014

The complex of TFII-I, PARP1, and SFPQ proteins regulates the DYX1C1 gene implicated in neuronal migration and dyslexia

artículo científico publicado en 2008

The influence of common polygenic risk and gene sets on social skills group training response in autism spectrum disorder

scientific article published on 12 October 2020

The molecular network of the dyslexia candidate gene DYX1C1 shows connection to neuronal migration genes and cytoskeletal proteins

article

The rs3743205 SNP is important for the regulation of the dyslexia candidate gene DYX1C1 by estrogen receptor β and DNA methylation

artículo científico publicado en 2012

Using extended pedigrees to identify novel autism spectrum disorder (ASD) candidate genes

artículo científico publicado en 2014

Variable neurodevelopmental and morphological phenotypes of carriers with 12q12 duplications

artículo científico publicado en 2019

Whole-genome sequencing of quartet families with autism spectrum disorder

artículo científico publicado en 2015

X-box promoter motif searches: from C. elegans to humans to novel candidate ciliopathies.

artículo científico publicado en 2015

Lista de obras de Kristiina Tammimies

2D:4D Ratio in Neurodevelopmental Disorders: A Twin Study

Association between Copy Number Variation and Response to Social Skills Training in Autism Spectrum Disorder

Brain-expressed exons under purifying selection are enriched for de novo mutations in autism spectrum disorder

Ciliary dyslexia candidate genes DYX1C1 and DCDC2 are regulated by Regulatory Factor X (RFX) transcription factors through X-box promoter motifs

Clinical versus automated assessments of morphological variants in twins with and without neurodevelopmental disorders

Copy Number Variation Analysis of 100 Twin Pairs Enriched for Neurodevelopmental Disorders

Copy number variation in Han Chinese individuals with autism spectrum disorder

De novo exon 1 deletion of AUTS2 gene in a patient with autism spectrum disorder and developmental delay: a case report and a brief literature review.

Derivation of human iPS cell lines from monozygotic twins in defined and xeno free conditions

Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes

Dynamical features in fetal and postnatal zinc-copper metabolic cycles predict the emergence of autism spectrum disorder.

Dynamical properties of elemental metabolism distinguish attention deficit hyperactivity disorder from autism spectrum disorder

EU-AIMS Longitudinal European Autism Project (LEAP): the autism twin cohort

Enrichment of rare copy number variation in children with developmental language disorder

Fetal and postnatal metal dysregulation in autism

Functional interaction of DYX1C1 with estrogen receptors suggests involvement of hormonal pathways in dyslexia

Genetic mechanisms of regression in autism spectrum disorder

Genome-wide characteristics of de novo mutations in autism

Human LUHMES and NES cells as models for studying primary cilia in neurons

Hypogonadotrophic hypogonadism, delayed puberty and risk for neurodevelopmental disorders

Increased expression of the dyslexia candidate gene DCDC2 affects length and signaling of primary cilia in neurons

Indexing Effects of Copy Number Variation on Genes Involved in Developmental Delay

Intracellular signalling pathways and cytoskeletal functions converge on the psoriasis candidate gene CCHCR1 expressed at P-bodies and centrosomes.

Long-term social skills group training for children and adolescents with autism spectrum disorder: a randomized controlled trial

Medical history of discordant twins and environmental etiologies of autism

Minor physical anomalies in neurodevelopmental disorders: a twin study

Modeling SHH-driven medulloblastoma with patient iPS cell-derived neural stem cells

Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder

Molecular networks of DYX1C1 gene show connection to neuronal migration genes and cytoskeletal proteins

Predictive impact of rare genomic copy number variations in siblings of individuals with autism spectrum disorders

Presynaptic dysfunction in CASK-related neurodevelopmental disorders

Quo Vadis clinical genomics of ASD?

Rare de novo deletion of metabotropic glutamate receptor 7 (GRM7) gene in a patient with autism spectrum disorder

Recurrence quantification analysis to characterize cyclical components of environmental elemental exposures during fetal and postnatal development

SNP variations in the 7q33 region containing DGKI are associated with dyslexia in the Finnish and German populations.

Social Skills Training for Children and Adolescents With Autism Spectrum Disorder: A Randomized Controlled Trial

Subtly altered topological asymmetry of brain structural covariance networks in autism spectrum disorder across 43 datasets from the ENIGMA consortium

Synaptic, transcriptional and chromatin genes disrupted in autism

The Roots of Autism and ADHD Twin Study in Sweden (RATSS).

The complex of TFII-I, PARP1, and SFPQ proteins regulates the DYX1C1 gene implicated in neuronal migration and dyslexia

The influence of common polygenic risk and gene sets on social skills group training response in autism spectrum disorder

The molecular network of the dyslexia candidate gene DYX1C1 shows connection to neuronal migration genes and cytoskeletal proteins

The rs3743205 SNP is important for the regulation of the dyslexia candidate gene DYX1C1 by estrogen receptor β and DNA methylation

Using extended pedigrees to identify novel autism spectrum disorder (ASD) candidate genes

Variable neurodevelopmental and morphological phenotypes of carriers with 12q12 duplications

Whole-genome sequencing of quartet families with autism spectrum disorder

X-box promoter motif searches: from C. elegans to humans to novel candidate ciliopathies.