Lista de obras -

A Genome-Wide Search for Genes Involved in Type 2 Diabetes in a Recently Genetically Isolated Population From the Netherlands

article

A common polymorphism in the ABCB1 gene is associated with side effects of PGP-dependent antidepressants in a large naturalistic Dutch cohort.

artículo científico publicado en 2015

A gene subject to genomic imprinting and responsible for hereditary paragangliomas maps to chromosome 11q23-qter

artículo científico publicado el 1 de abril de 1992

A new locus for postaxial polydactyly type A/B on chromosome 7q21–q34 ⬇️

artículo científico publicado el 1 de mayo de 2003

A new polymorphic probe on chromosome 22: NB17 (D22S181) ⬇️

artículo científico publicado el 11 de febrero de 1991

A new polymorphic probe on chromosome 22: NB84 (D22S183) ⬇️

artículo científico publicado el 11 de febrero de 1991

A new polymorphic probe on chromosome 22q: NB129 (D22S193) ⬇️

artículo científico publicado el 11 de febrero de 1991

A new syndrome with noncompaction cardiomyopathy, bradycardia, pulmonary stenosis, atrial septal defect and heterotaxy with suggestive linkage to chromosome 6p

scientific article published on 16 October 2007

A novel homozygous DJ1 mutation causes parkinsonism and ALS in a Turkish family

artículo científico publicado en 2016

A promoter-level mammalian expression atlas

artículo científico publicado en 2014

An atlas of human long non-coding RNAs with accurate 5' ends.

artículo científico publicado en 2017

An integrated expression atlas of miRNAs and their promoters in human and mouse.

artículo científico publicado en 2017

Analysis of variation in the melanocortin-4 receptor gene (mc4r) in golden retriever dogs

artículo científico publicado en 2010

Antisense Transcription in Loci Associated to Hereditary Neurodegenerative Diseases

artículo científico publicado en 2019

Brachydactyly and short stature in a kindred with early-onset parkinsonism

scientific article published on 01 September 2004

Brain-specific noncoding RNAs are likely to originate in repeats and may play a role in up-regulating genes in cis.

artículo científico publicado en 2014

C9orf72 is differentially expressed in the central nervous system and myeloid cells and consistently reduced in C9orf72, MAPT and GRN mutation carriers.

artículo científico publicado en 2016

CAGE-defined promoter regions of the genes implicated in Rett Syndrome.

artículo científico publicado en 2014

Clinical and Neuropathological Features of Spastic Ataxia in a Spanish Family with Novel Compound Heterozygous Mutations in STUB1

artículo científico publicado en 2015

Clinical and genetic studies on 12 preaxial polydactyly families and refinement of the localisation of the gene responsible to a 1.9 cM region on chromosome 7q36

Common variants underlying cognitive ability: further evidence for association between the SNAP-25 gene and cognition using a family-based study in two independent Dutch cohorts

article

Deep learning-based cell composition analysis from tissue expression profiles

scientific article published on 22 July 2020

Determining the genome-wide kinship coefficient seems unhelpful in distinguishing consanguineous couples with a high versus low risk for adverse reproductive outcome ⬇️

artículo científico publicado en 2015

Enhancers active in dopamine neurons are a primary link between genetic variation and neuropsychiatric disease

scientific article published on 17 September 2018

Evidence for Immune Response, Axonal Dysfunction and Reduced Endocytosis in the Substantia Nigra in Early Stage Parkinson's Disease.

artículo científico publicado en 2015

Exome sequencing is a useful diagnostic tool for complicated forms of hereditary spastic paraplegia.

artículo científico publicado en 2013

FANTOM5 CAGE profiles of human and mouse samples

artículo científico

Familial aggregation of parkinsonism in progressive supranuclear palsy.

artículo científico publicado en 2009

Genetic modifiers of risk and age at onset in GBA associated Parkinson's disease and Lewy body dementia

artículo científico publicado en 2020

Genetic risk of Parkinson disease and progression:: An analysis of 13 longitudinal cohorts

artículo científico publicado en 2019

Genetic study on Tourette syndrome in The Netherlands

artículo científico publicado el 1 de enero de 1992

Genome-wide analyses as part of the international FTLD-TDP whole-genome sequencing consortium reveals novel disease risk factors and increases support for immune dysfunction in FTLD

scientific article published on 09 February 2019

Genome-wide association study of Tourette's syndrome

artículo científico publicado en 2013

Genome-wide association study of obsessive-compulsive disorder.

artículo científico publicado en 2012

Genomewide association study of Parkinson's disease clinical biomarkers in 12 longitudinal patients' cohorts

scientific article published on 10 September 2019

HPCA confirmed as a genetic cause of DYT2-like dystonia phenotype

scientific article published on 25 August 2018

Joint reanalysis of 29 correlated SNPs supports the role of PCLO/Piccolo as a causal risk factor for major depressive disorder

artículo científico publicado en 2009

Linkage and Tourette syndrome ⬇️

artículo científico publicado el 12 de enero de 1991

Localization of autosomal recessive early-onset parkinsonism to chromosome 1p36 (PARK7) in an independent dataset

artículo científico publicado en 2002

Lodewijk A. Sandkuijl, M.D. (July 31, 1953–December 4, 2002).

artículo científico publicado en 2003

MAPT-Related Disorders

artículo científico publicado en 2010

Medical image. Post mortem diagnosis of severe sepsis

artículo científico publicado en 2011

Melanocortin-4 Receptor Gene Mutations in a Dutch Cohort of Obese Children

article

Meta-analysis of genome-wide association data of bipolar disorder and major depressive disorder.

artículo científico publicado en 2010

Mutation frequency of PRKAR1B and the major familial dementia genes in a Dutch early onset dementia cohort.

artículo científico publicado en 2014

Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly.

artículo científico publicado en 2005

Neurodegeneration: new road leads back to the synapse.

artículo científico publicado en 2012

PLA2G6 Mutations Related to Distinct Phenotypes: A New Case with Early-onset Parkinsonism

artículo científico publicado en 2016

Parkinson's disease age at onset genome-wide association study: Defining heritability, genetic loci, and α-synuclein mechanisms

artículo científico publicado en 2019

Population and genomic lessons from genetic analysis of two Indian populations.

artículo científico publicado en 2014

Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study.

artículo científico publicado en 2018

Publisher Correction: Enhancers active in dopamine neurons are a primary link between genetic variation and neuropsychiatric disease

scientific article published on 01 January 2019

Rare variants analysis of cutaneous malignant melanoma genes in Parkinson's disease. ⬇️

scientific article published on 28 July 2016

Regional differences in gene expression and promoter usage in aged human brains.

artículo científico publicado en 2013

Shared activity patterns arising at genetic susceptibility loci reveal underlying genomic and cellular architecture of human disease.

artículo científico publicado en 2018

Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy ⬇️

artículo científico publicado el 1 de febrero de 1998

Somatic retrotransposition alters the genetic landscape of the human brain

artículo científico publicado en 2011

Supporting the generalist genes hypothesis for intellectual ability/disability: the case of SNAP25.

artículo científico publicado en 2012

Tauopathies with parkinsonism: clinical spectrum, neuropathologic basis, biological markers, and treatment options.

artículo científico publicado en 2009

The ongoing adaptive evolution of ASPM and Microcephalin is not explained by increased intelligence

artículo científico publicado en 2006

Trehalose improves human fibroblast deficits in a new CHIP-mutation related ataxia.

artículo científico publicado en 2014

Variation at GRN 3'-UTR rs5848 is not associated with a risk of frontotemporal lobar degeneration in Dutch population.

artículo científico publicado en 2009

[Parkinson's disease(s): recent insight into genetic factors]

artículo científico publicado en 2007

β2-Adrenoreceptor is a regulator of the α-synuclein gene driving risk of Parkinson's disease.

artículo científico publicado en 2017

Lista de obras de

A Genome-Wide Search for Genes Involved in Type 2 Diabetes in a Recently Genetically Isolated Population From the Netherlands

A common polymorphism in the ABCB1 gene is associated with side effects of PGP-dependent antidepressants in a large naturalistic Dutch cohort.

A gene subject to genomic imprinting and responsible for hereditary paragangliomas maps to chromosome 11q23-qter

A new locus for postaxial polydactyly type A/B on chromosome 7q21–q34 ⬇️

A new polymorphic probe on chromosome 22: NB17 (D22S181) ⬇️

A new polymorphic probe on chromosome 22: NB84 (D22S183) ⬇️

A new polymorphic probe on chromosome 22q: NB129 (D22S193) ⬇️

A new syndrome with noncompaction cardiomyopathy, bradycardia, pulmonary stenosis, atrial septal defect and heterotaxy with suggestive linkage to chromosome 6p

A novel homozygous DJ1 mutation causes parkinsonism and ALS in a Turkish family

A promoter-level mammalian expression atlas

An atlas of human long non-coding RNAs with accurate 5' ends.

An integrated expression atlas of miRNAs and their promoters in human and mouse.

Analysis of variation in the melanocortin-4 receptor gene (mc4r) in golden retriever dogs

Antisense Transcription in Loci Associated to Hereditary Neurodegenerative Diseases

Brachydactyly and short stature in a kindred with early-onset parkinsonism

Brain-specific noncoding RNAs are likely to originate in repeats and may play a role in up-regulating genes in cis.

C9orf72 is differentially expressed in the central nervous system and myeloid cells and consistently reduced in C9orf72, MAPT and GRN mutation carriers.

CAGE-defined promoter regions of the genes implicated in Rett Syndrome.

Clinical and Neuropathological Features of Spastic Ataxia in a Spanish Family with Novel Compound Heterozygous Mutations in STUB1

Clinical and genetic studies on 12 preaxial polydactyly families and refinement of the localisation of the gene responsible to a 1.9 cM region on chromosome 7q36

Common variants underlying cognitive ability: further evidence for association between the SNAP-25 gene and cognition using a family-based study in two independent Dutch cohorts

Deep learning-based cell composition analysis from tissue expression profiles

Determining the genome-wide kinship coefficient seems unhelpful in distinguishing consanguineous couples with a high versus low risk for adverse reproductive outcome ⬇️

Enhancers active in dopamine neurons are a primary link between genetic variation and neuropsychiatric disease

Evidence for Immune Response, Axonal Dysfunction and Reduced Endocytosis in the Substantia Nigra in Early Stage Parkinson's Disease.

Exome sequencing is a useful diagnostic tool for complicated forms of hereditary spastic paraplegia.

FANTOM5 CAGE profiles of human and mouse samples

Familial aggregation of parkinsonism in progressive supranuclear palsy.

Genetic modifiers of risk and age at onset in GBA associated Parkinson's disease and Lewy body dementia

Genetic risk of Parkinson disease and progression:: An analysis of 13 longitudinal cohorts

Genetic study on Tourette syndrome in The Netherlands

Genome-wide analyses as part of the international FTLD-TDP whole-genome sequencing consortium reveals novel disease risk factors and increases support for immune dysfunction in FTLD

Genome-wide association study of Tourette's syndrome

Genome-wide association study of obsessive-compulsive disorder.

Genomewide association study of Parkinson's disease clinical biomarkers in 12 longitudinal patients' cohorts

HPCA confirmed as a genetic cause of DYT2-like dystonia phenotype

Joint reanalysis of 29 correlated SNPs supports the role of PCLO/Piccolo as a causal risk factor for major depressive disorder

Linkage and Tourette syndrome ⬇️

Localization of autosomal recessive early-onset parkinsonism to chromosome 1p36 (PARK7) in an independent dataset

Lodewijk A. Sandkuijl, M.D. (July 31, 1953–December 4, 2002).

MAPT-Related Disorders

Medical image. Post mortem diagnosis of severe sepsis

Melanocortin-4 Receptor Gene Mutations in a Dutch Cohort of Obese Children

Meta-analysis of genome-wide association data of bipolar disorder and major depressive disorder.

Mutation frequency of PRKAR1B and the major familial dementia genes in a Dutch early onset dementia cohort.

Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly.

Neurodegeneration: new road leads back to the synapse.

PLA2G6 Mutations Related to Distinct Phenotypes: A New Case with Early-onset Parkinsonism

Parkinson's disease age at onset genome-wide association study: Defining heritability, genetic loci, and α-synuclein mechanisms

Population and genomic lessons from genetic analysis of two Indian populations.

Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study.

Publisher Correction: Enhancers active in dopamine neurons are a primary link between genetic variation and neuropsychiatric disease

Rare variants analysis of cutaneous malignant melanoma genes in Parkinson's disease. ⬇️

Regional differences in gene expression and promoter usage in aged human brains.

Shared activity patterns arising at genetic susceptibility loci reveal underlying genomic and cellular architecture of human disease.

Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy ⬇️

Somatic retrotransposition alters the genetic landscape of the human brain

Supporting the generalist genes hypothesis for intellectual ability/disability: the case of SNAP25.

Tauopathies with parkinsonism: clinical spectrum, neuropathologic basis, biological markers, and treatment options.

The ongoing adaptive evolution of ASPM and Microcephalin is not explained by increased intelligence

Trehalose improves human fibroblast deficits in a new CHIP-mutation related ataxia.

Variation at GRN 3'-UTR rs5848 is not associated with a risk of frontotemporal lobar degeneration in Dutch population.

[Parkinson's disease(s): recent insight into genetic factors]

β2-Adrenoreceptor is a regulator of the α-synuclein gene driving risk of Parkinson's disease.