Lista de obras - Silvia Paracchini - Dominio Público Uruguay

A 77-kilobase region of chromosome 6p22.2 is associated with dyslexia in families from the United Kingdom and from the United States

artículo científico publicado en 2004

A Y chromosomal influence on prostate cancer risk: the multi-ethnic cohort study

artículo científico publicado en 2003

A common variant associated with dyslexia reduces expression of the KIAA0319 gene

artículo científico publicado en 2009

A large AZFc deletion removes DAZ3/DAZ4 and nearby genes from men in Y haplogroup N

artículo científico publicado en 2003

A new model organism for studying the catabolism of pyrimidines and purines.

artículo científico

A novel mutation in SPART gene causes a severe neurodevelopmental delay due to mitochondrial dysfunction with complex I impairments and altered pyruvate metabolism

scientific article published on 07 August 2019

A predominantly neolithic origin for Y-chromosomal DNA variation in North Africa

artículo científico publicado en 2004

Advances in Dyslexia Genetics-New Insights Into the Role of Brain Asymmetries.

artículo científico publicado en 2016

Alternative splicing in the dyslexia-associated gene KIAA0319

artículo científico publicado en 2007

An allele-specific gene expression assay to test the functional basis of genetic associations

artículo científico publicado en 2010

Analysis of dyslexia candidate genes in the Raine cohort representing the general Australian population

artículo científico publicado en 2010

Are sequence family variants useful for identifying deletions in the human Y chromosome?

artículo científico publicado en 2004

Association of the KIAA0319 dyslexia susceptibility gene with reading skills in the general population.

artículo científico publicado en 2008

CMIP and ATP2C2 modulate phonological short-term memory in language impairment

artículo científico publicado en 2009

Characterization of a family with rare deletions in CNTNAP5 and DOCK4 suggests novel risk loci for autism and dyslexia

artículo científico publicado en 2010

Common variants in left/right asymmetry genes and pathways are associated with relative hand skill

artículo científico publicado en 2013

Copy Number Variation Screen Identifies a Rare De Novo Deletion at Chromosome 15q13.1-13.3 in a Child with Language Impairment

artículo científico publicado en 2015

Correction: Identification of Candidate Genes for Dyslexia Susceptibility on Chromosome 18.

artículo científico publicado en 2010

DCDC2, KIAA0319 and CMIP are associated with reading-related traits

artículo científico publicado en 2011

Different laterality indexes are poorly correlated with one another but consistently show the tendency of males and females to be more left- and right-lateralized, respectively

scientific article published on 15 April 2020

Dissection of genetic associations with language-related traits in population-based cohorts ⬇️

artículo científico publicado el 6 de septiembre de 2011

Four meta-analyses across 164 studies on atypical footedness prevalence and its relation to handedness

artículo científico publicado en 2020

Further evidence for a parent-of-origin effect at the NOP9 locus on language-related phenotypes.

artículo científico publicado en 2016

Further evidence that the KIAA0319 gene confers susceptibility to developmental dyslexia

artículo científico publicado en 2006

Genetic analysis of dyslexia candidate genes in the European cross-linguistic NeuroDys cohort

artículo científico publicado en 2013

Genome Wide Association Scan identifies new variants associated with a cognitive predictor of dyslexia

Genome-wide association analyses of child genotype effects and parent-of-origin effects in specific language impairment.

artículo científico publicado en 2014

Genome-wide association scan identifies new variants associated with a cognitive predictor of dyslexia

artículo científico publicado en 2019

Genome-wide association study reveals new insights into the heritability and genetic correlates of developmental dyslexia

artículo científico publicado en 2020

Genome-wide screening for DNA variants associated with reading and language traits

artículo científico publicado en 2014

Genome‐wide association study and polygenic risk score analysis for hearing measures in children

scientific article published in 2021

Genomic Imprinting As a Window into Human Language Evolution

artículo científico publicado en 2019

Haplotype-specific expression of exon 10 at the human MAPT locus

artículo científico publicado en 2006

Hierarchical high-throughput SNP genotyping of the human Y chromosome using MALDI-TOF mass spectrometry

artículo científico publicado en 2002

Human handedness: A meta-analysis

artículo científico publicado en 2020

Identification of candidate genes for dyslexia susceptibility on chromosome 18.

artículo científico publicado en 2010

Increased prevalence of sex chromosome aneuploidies in specific language impairment and dyslexia

artículo científico publicado en 2013

Investigation of dyslexia and SLI risk variants in reading- and language-impaired subjects.

artículo científico publicado en 2010

Lack of replication for the myosin-18B association with mathematical ability in independent cohorts.

artículo científico publicado en 2015

PCSK6 is associated with handedness in individuals with dyslexia

artículo científico publicado en 2011

Papadatou-Pastou, Martin, Munafò, Ntolka, Ocklenburg, & Paracchini. The prevalence of left-handedness: Five meta-analyses of 200 studies totaling 2,396,170 individuals

Prevalence and heritability of handedness in a Hong Kong Chinese twin and singleton sample

scientific article published on 22 April 2020

Putative functional alleles of DYX1C1 are not associated with dyslexia susceptibility in a large sample of sibling pairs from the UK

artículo científico publicado en 2004

Quantitative multidimensional phenotypes improve genetic analysis of laterality traits

artículo científico publicado en 2022

Reading and language disorders: the importance of both quantity and quality.

artículo científico publicado en 2014

Relationship between Y-chromosomal DNA haplotype and sperm count in Italy

article

Reply to Repping et al.

artículo científico publicado en 2004

The DCDC2 deletion is not a risk factor for dyslexia

artículo científico publicado en 2017

The chromosome 6p22 haplotype associated with dyslexia reduces the expression of KIAA0319, a novel gene involved in neuronal migration

artículo científico publicado en 2006

The dyslexia candidate locus on 2p12 is associated with general cognitive ability and white matter structure

artículo científico publicado en 2012

The dyslexia susceptibility KIAA0319 gene shows a specific expression pattern during zebrafish development supporting a role beyond neuronal migration

artículo científico publicado en 2019

The dyslexia-associated gene KIAA0319 encodes highly N- and O-glycosylated plasma membrane and secreted isoforms

artículo científico publicado en 2007

The genetic lexicon of dyslexia

artículo científico publicado en 2007

The genetic relationship between handedness and neurodevelopmental disorders

artículo científico publicado en 2013

The handedness-associated PCSK6 locus spans an intronic promoter regulating novel transcripts.

artículo científico publicado en 2016

The neuronal migration hypothesis of dyslexia: A critical evaluation 30 years on

artículo científico publicado en 2018

The neuronal migration hypothesis of dyslexia: a critical evaluation thirty years on

Y-chromosomal DNA haplotypes in infertile European males carrying Y-microdeletions

article

Y-chromosomal insights into the genetic impact of the caste system in India

artículo científico publicado en 2007

Y-chromosomal DNA haplotypes in male infertility and cancer

tesis doctoral

Lista de obras de Silvia Paracchini

A 77-kilobase region of chromosome 6p22.2 is associated with dyslexia in families from the United Kingdom and from the United States

A Y chromosomal influence on prostate cancer risk: the multi-ethnic cohort study

A common variant associated with dyslexia reduces expression of the KIAA0319 gene

A large AZFc deletion removes DAZ3/DAZ4 and nearby genes from men in Y haplogroup N

A new model organism for studying the catabolism of pyrimidines and purines.

A novel mutation in SPART gene causes a severe neurodevelopmental delay due to mitochondrial dysfunction with complex I impairments and altered pyruvate metabolism

A predominantly neolithic origin for Y-chromosomal DNA variation in North Africa

Advances in Dyslexia Genetics-New Insights Into the Role of Brain Asymmetries.

Alternative splicing in the dyslexia-associated gene KIAA0319

An allele-specific gene expression assay to test the functional basis of genetic associations

Analysis of dyslexia candidate genes in the Raine cohort representing the general Australian population

Are sequence family variants useful for identifying deletions in the human Y chromosome?

Association of the KIAA0319 dyslexia susceptibility gene with reading skills in the general population.

CMIP and ATP2C2 modulate phonological short-term memory in language impairment

Characterization of a family with rare deletions in CNTNAP5 and DOCK4 suggests novel risk loci for autism and dyslexia

Common variants in left/right asymmetry genes and pathways are associated with relative hand skill

Copy Number Variation Screen Identifies a Rare De Novo Deletion at Chromosome 15q13.1-13.3 in a Child with Language Impairment

Correction: Identification of Candidate Genes for Dyslexia Susceptibility on Chromosome 18.

DCDC2, KIAA0319 and CMIP are associated with reading-related traits

Different laterality indexes are poorly correlated with one another but consistently show the tendency of males and females to be more left- and right-lateralized, respectively

Dissection of genetic associations with language-related traits in population-based cohorts ⬇️

Four meta-analyses across 164 studies on atypical footedness prevalence and its relation to handedness

Further evidence for a parent-of-origin effect at the NOP9 locus on language-related phenotypes.

Further evidence that the KIAA0319 gene confers susceptibility to developmental dyslexia

Genetic analysis of dyslexia candidate genes in the European cross-linguistic NeuroDys cohort

Genome Wide Association Scan identifies new variants associated with a cognitive predictor of dyslexia

Genome-wide association analyses of child genotype effects and parent-of-origin effects in specific language impairment.

Genome-wide association scan identifies new variants associated with a cognitive predictor of dyslexia

Genome-wide association study reveals new insights into the heritability and genetic correlates of developmental dyslexia

Genome-wide screening for DNA variants associated with reading and language traits

Genome‐wide association study and polygenic risk score analysis for hearing measures in children

Genomic Imprinting As a Window into Human Language Evolution

Haplotype-specific expression of exon 10 at the human MAPT locus

Hierarchical high-throughput SNP genotyping of the human Y chromosome using MALDI-TOF mass spectrometry

Human handedness: A meta-analysis

Identification of candidate genes for dyslexia susceptibility on chromosome 18.

Increased prevalence of sex chromosome aneuploidies in specific language impairment and dyslexia

Investigation of dyslexia and SLI risk variants in reading- and language-impaired subjects.

Lack of replication for the myosin-18B association with mathematical ability in independent cohorts.

PCSK6 is associated with handedness in individuals with dyslexia

Papadatou-Pastou, Martin, Munafò, Ntolka, Ocklenburg, & Paracchini. The prevalence of left-handedness: Five meta-analyses of 200 studies totaling 2,396,170 individuals

Prevalence and heritability of handedness in a Hong Kong Chinese twin and singleton sample

Putative functional alleles of DYX1C1 are not associated with dyslexia susceptibility in a large sample of sibling pairs from the UK

Quantitative multidimensional phenotypes improve genetic analysis of laterality traits

Reading and language disorders: the importance of both quantity and quality.

Relationship between Y-chromosomal DNA haplotype and sperm count in Italy

Reply to Repping et al.

The DCDC2 deletion is not a risk factor for dyslexia

The chromosome 6p22 haplotype associated with dyslexia reduces the expression of KIAA0319, a novel gene involved in neuronal migration

The dyslexia candidate locus on 2p12 is associated with general cognitive ability and white matter structure

The dyslexia susceptibility KIAA0319 gene shows a specific expression pattern during zebrafish development supporting a role beyond neuronal migration

The dyslexia-associated gene KIAA0319 encodes highly N- and O-glycosylated plasma membrane and secreted isoforms

The genetic lexicon of dyslexia

The genetic relationship between handedness and neurodevelopmental disorders

The handedness-associated PCSK6 locus spans an intronic promoter regulating novel transcripts.

The neuronal migration hypothesis of dyslexia: A critical evaluation 30 years on

The neuronal migration hypothesis of dyslexia: a critical evaluation thirty years on

The neuronal migration hypothesis of dyslexia: a critical evaluation thirty years on

Y-chromosomal DNA haplotypes in infertile European males carrying Y-microdeletions

Y-chromosomal insights into the genetic impact of the caste system in India

Y-chromosomal DNA haplotypes in male infertility and cancer