Lista de obras - Irma Järvelä - Dominio Público Uruguay

A biopsy-based quick test in the diagnosis of duodenal hypolactasia in upper gastrointestinal endoscopy.

artículo científico publicado en 2006

A genetic test which can be used to diagnose adult-type hypolactasia in children

artículo científico publicado en 2004

A genome-wide linkage and association study of musical aptitude identifies loci containing genes related to inner ear development and neurocognitive functions

artículo científico publicado en 2014

A novel mutation W388X underlying properdin deficiency in a Finnish family

artículo científico publicado en 2012

Acquisition of complement factor H is important for pathogenesis of Streptococcus pyogenes infections: evidence from bacterial in vitro survival and human genetic association

artículo científico publicado en 2011

Adenomatous Polyposis Families That ScreenAPCMutation–Negative by Conventional Methods Are Genetically Heterogeneous

artículo científico publicado en 2005

Allelic variants in HTR3C show association with autism.

artículo científico publicado en 2009

Analysis of 9p24 and 11p12-13 regions in autism spectrum disorders: rs1340513 in the JMJD2C gene is associated with ASDs in Finnish sample

artículo científico publicado en 2010

Analysis of four neuroligin genes as candidates for autism.

artículo científico publicado en 2005

Association and Promoter Analysis of AVPR1A in Finnish Autism Families.

artículo científico publicado en 2015

Association of LOXL1 gene with Finnish exfoliation syndrome patients

artículo científico publicado en 2009

Association of the arginine vasopressin receptor 1A (AVPR1A) haplotypes with listening to music

artículo científico publicado en 2011

Causes of Death of Professional Musicians in the Classical Genre

scientific article published on 01 June 2019

Characterization of a novel cation transporter ATPase gene (ATP13A4) interrupted by 3q25-q29 inversion in an individual with language delay

artículo científico publicado en 2005

Charting the effects of antioxidant therapy in the diseased brain: focus on "vitamin E deficiency and metabolic deficits in neuronal ceroid lipofuscinosis described by bioinformatics".

artículo científico publicado en 2002

Convergent evidence for the molecular basis of musical traits

artículo científico publicado en 2016

Correction: Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population

artículo científico publicado en 2020

Creative Activities in Music--A Genome-Wide Linkage Analysis.

artículo científico publicado en 2016

Detecting signatures of positive selection associated with musical aptitude in the human genome

artículo científico publicado en 2016

Evidence for allelic association on chromosome 3q25-27 in families with autism spectrum disorders originating from a subisolate of Finland

artículo científico publicado en 2003

Evidence of still-ongoing convergence evolution of the lactase persistence T-13910 alleles in humans

artículo científico publicado en 2007

Exploring genome-wide DNA methylation patterns in Aicardi syndrome.

artículo científico publicado en 2017

Family-based association study of DYX1C1 variants in autism

artículo científico publicado en 2005

Fine mapping of Xq11.1-q21.33 and mutation screening of RPS6KA6, ZNF711, ACSL4, DLG3, and IL1RAPL2 for autism spectrum disorders (ASD).

artículo científico publicado en 2011

Four novel mutations in the lactase gene (LCT) underlying congenital lactase deficiency (CLD).

artículo científico publicado en 2009

Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders

artículo científico publicado en 2012

Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci.

artículo científico publicado en 2017

Genome-Wide Scan of Exfoliation Syndrome

artículo científico publicado en 2007

Genome-wide copy number variation analysis in extended families and unrelated individuals characterized for musical aptitude and creativity in music

artículo científico publicado en 2013

Genome-wide linkage scan for loci of musical aptitude in Finnish families: evidence for a major locus at 4q22.

artículo científico publicado en 2008

Genome-wide scan for loci of Asperger syndrome

artículo científico publicado en 2004

Genomics approaches to study musical aptitude.

artículo científico publicado en 2014

Genomics studies on musical aptitude, music perception, and practice

artículo científico publicado en 2018

Heterozygous loss of function of IQSEC2/Iqsec2 leads to increased activated Arf6 and severe neurocognitive seizure phenotype in females

scientific article published on 22 August 2019

Identification of C12orf4 as a gene for autosomal recessive intellectual disability.

artículo científico publicado en 2016

Identification of a variant associated with adult-type hypolactasia

artículo científico publicado en 2002

Identification of two AGTR2 mutations in male patients with non-syndromic mental retardation.

artículo científico publicado en 2003

Independent replication and initial fine mapping of 3p21-24 in Asperger syndrome.

artículo científico publicado en 2006

Infantile form of neuronal ceroid lipofuscinosis (CLN1) maps to the short arm of chromosome 1

artículo científico publicado en 1991

Interleukin 8 promoter polymorphism predicts the initial response to bevacizumab treatment for exudative age-related macular degeneration ⬇️

artículo científico publicado el 1 de octubre de 2013

Is ASMT a susceptibility gene for autism spectrum disorders? A replication study in European populations

artículo científico publicado en 2007

Lack of complement inhibitors in the outer intracranial artery aneurysm wall associates with complement terminal pathway activation

artículo científico publicado en 2010

Lactase non-persistent genotype influences milk consumption and gastrointestinal symptoms in Northern Russians

artículo científico publicado en 2011

Lactase persistence and ovarian carcinoma risk in Finland, Poland and Sweden

artículo científico publicado en 2005

Lactase persistence genotypes and malaria susceptibility in Fulani of Mali

artículo científico publicado en 2011

Lactase persistence, dietary intake of milk, and the risk for prostate cancer in Sweden and Finland

artículo científico publicado en 2007

Linkage and candidate gene studies of autism spectrum disorders in European populations

artículo científico publicado en 2010

MECP2 mutation analysis in patients with mental retardation.

artículo científico publicado en 2005

Molecular Analysis of Familial Endometrial Carcinoma: A Manifestation of Hereditary Nonpolyposis Colorectal Cancer or a Separate Syndrome?

article

Molecular diagnosis of adult-type hypolactasia (lactase non-persistence).

artículo científico publicado en 2005

Molecular genetics of human lactase deficiencies

artículo científico publicado en 2009

Molecularly defined lactose malabsorption, peak bone mass and bone turnover rate in young finnish men.

artículo científico publicado en 2004

Multifactor effects and evidence of potential interaction between complement factor H Y402H and LOC387715 A69S in age-related macular degeneration

artículo científico publicado en 2008

Music-listening regulates human microRNA expression

scientific article published on 06 September 2020

Music-performance regulates microRNAs in professional musicians

artículo científico publicado en 2019

Novel PORCN mutations in focal dermal hypoplasia.

artículo científico publicado en 2009

Penetrance and phenotype of the Thr377Met Myocilin mutation in a large Finnish family with juvenile- and adult-onset primary open-angle glaucoma

artículo científico publicado en 2005

Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population

scientific article published on 26 March 2019

Prenatal diagnosis of congenital nephrotic syndrome (CNF, NPHS1).

artículo científico publicado en 2003

Prevalence of lactase persistent/non-persistent genotypes and milk consumption in a young population in north-west Russia.

artículo científico publicado en 2009

Screening of DNA-variants in the properdin gene (CFP) in age-related macular degeneration (AMD)

article

Screening of mutations in the PHF8 gene and identification of a novel mutation in a Finnish family with XLMR and cleft lip/cleft palate

artículo científico publicado en 2007

Screening of variants for lactase persistence/non-persistence in populations from South Africa and Ghana.

artículo científico publicado en 2009

Search for autism loci by combined analysis of Autism Genetic Resource Exchange and Finnish families

artículo científico publicado en 2006

Sequence analysis of the genes encoding for H+/K+-ATPase in autoimmune gastritis.

artículo científico publicado en 2006

The C/C-13910 genotype of adult-type hypolactasia is associated with an increased risk of colorectal cancer in the Finnish population

artículo científico publicado en 2005

The effect of listening to music on human transcriptome

artículo científico publicado en 2015

The effect of music performance on the transcriptome of professional musicians.

artículo científico publicado en 2015

The genetic variant of lactase persistence C (−13910) T as a risk factor for type I and II diabetes in the Finnish population

The genetic variant rs4073 A→T of the Interleukin-8 promoter region is associated with the earlier onset of exudative age-related macular degeneration

artículo científico publicado en 2015

The genome-wide landscape of copy number variations in the MUSGEN study provides evidence for a founder effect in the isolated Finnish population

artículo científico publicado en 2013

The landscape of copy number variations in Finnish families with autism spectrum disorders

artículo científico publicado en 2015

Transcriptional downregulation of the lactase (LCT) gene during childhood.

artículo científico publicado en 2005

Variants in CUL4B are associated with cerebral malformations

artículo científico publicado en 2015

X-exome sequencing in Finnish families with intellectual disability--four novel mutations and two novel syndromic phenotypes

artículo científico publicado en 2014

Lista de obras de Irma Järvelä

A biopsy-based quick test in the diagnosis of duodenal hypolactasia in upper gastrointestinal endoscopy.

A genetic test which can be used to diagnose adult-type hypolactasia in children

A genome-wide linkage and association study of musical aptitude identifies loci containing genes related to inner ear development and neurocognitive functions

A novel mutation W388X underlying properdin deficiency in a Finnish family

Acquisition of complement factor H is important for pathogenesis of Streptococcus pyogenes infections: evidence from bacterial in vitro survival and human genetic association

Adenomatous Polyposis Families That ScreenAPCMutation–Negative by Conventional Methods Are Genetically Heterogeneous

Allelic variants in HTR3C show association with autism.

Analysis of 9p24 and 11p12-13 regions in autism spectrum disorders: rs1340513 in the JMJD2C gene is associated with ASDs in Finnish sample

Analysis of four neuroligin genes as candidates for autism.

Association and Promoter Analysis of AVPR1A in Finnish Autism Families.

Association of LOXL1 gene with Finnish exfoliation syndrome patients

Association of the arginine vasopressin receptor 1A (AVPR1A) haplotypes with listening to music

Causes of Death of Professional Musicians in the Classical Genre

Characterization of a novel cation transporter ATPase gene (ATP13A4) interrupted by 3q25-q29 inversion in an individual with language delay

Charting the effects of antioxidant therapy in the diseased brain: focus on "vitamin E deficiency and metabolic deficits in neuronal ceroid lipofuscinosis described by bioinformatics".

Convergent evidence for the molecular basis of musical traits

Correction: Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population

Creative Activities in Music--A Genome-Wide Linkage Analysis.

Detecting signatures of positive selection associated with musical aptitude in the human genome

Evidence for allelic association on chromosome 3q25-27 in families with autism spectrum disorders originating from a subisolate of Finland

Evidence of still-ongoing convergence evolution of the lactase persistence T-13910 alleles in humans

Exploring genome-wide DNA methylation patterns in Aicardi syndrome.

Family-based association study of DYX1C1 variants in autism

Fine mapping of Xq11.1-q21.33 and mutation screening of RPS6KA6, ZNF711, ACSL4, DLG3, and IL1RAPL2 for autism spectrum disorders (ASD).

Four novel mutations in the lactase gene (LCT) underlying congenital lactase deficiency (CLD).

Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders

Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci.

Genome-Wide Scan of Exfoliation Syndrome

Genome-wide copy number variation analysis in extended families and unrelated individuals characterized for musical aptitude and creativity in music

Genome-wide linkage scan for loci of musical aptitude in Finnish families: evidence for a major locus at 4q22.

Genome-wide scan for loci of Asperger syndrome

Genomics approaches to study musical aptitude.

Genomics studies on musical aptitude, music perception, and practice

Heterozygous loss of function of IQSEC2/Iqsec2 leads to increased activated Arf6 and severe neurocognitive seizure phenotype in females

Identification of C12orf4 as a gene for autosomal recessive intellectual disability.

Identification of a variant associated with adult-type hypolactasia

Identification of two AGTR2 mutations in male patients with non-syndromic mental retardation.

Independent replication and initial fine mapping of 3p21-24 in Asperger syndrome.

Infantile form of neuronal ceroid lipofuscinosis (CLN1) maps to the short arm of chromosome 1

Interleukin 8 promoter polymorphism predicts the initial response to bevacizumab treatment for exudative age-related macular degeneration ⬇️

Is ASMT a susceptibility gene for autism spectrum disorders? A replication study in European populations

Lack of complement inhibitors in the outer intracranial artery aneurysm wall associates with complement terminal pathway activation

Lactase non-persistent genotype influences milk consumption and gastrointestinal symptoms in Northern Russians

Lactase persistence and ovarian carcinoma risk in Finland, Poland and Sweden

Lactase persistence genotypes and malaria susceptibility in Fulani of Mali

Lactase persistence, dietary intake of milk, and the risk for prostate cancer in Sweden and Finland

Linkage and candidate gene studies of autism spectrum disorders in European populations

MECP2 mutation analysis in patients with mental retardation.

Molecular Analysis of Familial Endometrial Carcinoma: A Manifestation of Hereditary Nonpolyposis Colorectal Cancer or a Separate Syndrome?

Molecular diagnosis of adult-type hypolactasia (lactase non-persistence).

Molecular genetics of human lactase deficiencies

Molecularly defined lactose malabsorption, peak bone mass and bone turnover rate in young finnish men.

Multifactor effects and evidence of potential interaction between complement factor H Y402H and LOC387715 A69S in age-related macular degeneration

Music-listening regulates human microRNA expression

Music-performance regulates microRNAs in professional musicians

Novel PORCN mutations in focal dermal hypoplasia.

Penetrance and phenotype of the Thr377Met Myocilin mutation in a large Finnish family with juvenile- and adult-onset primary open-angle glaucoma

Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population

Prenatal diagnosis of congenital nephrotic syndrome (CNF, NPHS1).

Prevalence of lactase persistent/non-persistent genotypes and milk consumption in a young population in north-west Russia.

Screening of DNA-variants in the properdin gene (CFP) in age-related macular degeneration (AMD)

Screening of mutations in the PHF8 gene and identification of a novel mutation in a Finnish family with XLMR and cleft lip/cleft palate

Screening of variants for lactase persistence/non-persistence in populations from South Africa and Ghana.

Search for autism loci by combined analysis of Autism Genetic Resource Exchange and Finnish families

Sequence analysis of the genes encoding for H+/K+-ATPase in autoimmune gastritis.

The C/C-13910 genotype of adult-type hypolactasia is associated with an increased risk of colorectal cancer in the Finnish population

The effect of listening to music on human transcriptome

The effect of music performance on the transcriptome of professional musicians.

The genetic variant of lactase persistence C (−13910) T as a risk factor for type I and II diabetes in the Finnish population

The genetic variant rs4073 A→T of the Interleukin-8 promoter region is associated with the earlier onset of exudative age-related macular degeneration

The genome-wide landscape of copy number variations in the MUSGEN study provides evidence for a founder effect in the isolated Finnish population

The landscape of copy number variations in Finnish families with autism spectrum disorders

Transcriptional downregulation of the lactase (LCT) gene during childhood.

Variants in CUL4B are associated with cerebral malformations

X-exome sequencing in Finnish families with intellectual disability--four novel mutations and two novel syndromic phenotypes