Lista de obras - Alan Pittman - Dominio Público Uruguay

A 6.4 Mb duplication of the α-synuclein locus causing frontotemporal dementia and Parkinsonism: phenotype-genotype correlations

artículo científico publicado en 2014

A comprehensive analysis of rare genetic variation in amyotrophic lateral sclerosis in the UK

artículo científico publicado en 2017

A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3

article

A genome-wide association study identifies six susceptibility loci for chronic lymphocytic leukemia

scientific journal article

A genome-wide association study of tag SNPs identify five novel colorectal cancer susceptibility loci

article

A genome-wide association study shows that common alleles of SMAD7 influence colorectal cancer risk

article

A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia

artículo científico publicado en 2015

Additional rare variant analysis in Parkinson's disease cases with and without known pathogenic mutations: evidence for oligogenic inheritance

artículo científico publicado en 2016

Allele-Specific Small Interfering RNA Corrects Aberrant Cellular Phenotype in Keratitis-Ichthyosis-Deafness Syndrome Keratinocytes

scientific article published on 06 November 2019

Allelic variation at the 8q23.3 colorectal cancer risk locus functions as a cis-acting regulator of EIF3H.

artículo científico publicado en 2010

Analysis of the genetic variability in Parkinson's disease from Southern Spain.

artículo científico publicado en 2015

Association of MAPT haplotype-tagging SNPs with sporadic Parkinson's disease

scientific article published on 26 December 2007

CHCHD10 Pro34Ser is not a highly penetrant pathogenic variant for amyotrophic lateral sclerosis and frontotemporal dementia

artículo científico publicado en 2015

Characteristics of two distinct clinical phenotypes in pathologically proven progressive supranuclear palsy: Richardson's syndrome and PSP-parkinsonism

artículo científico publicado en 2005

Clinical and genetic characterization of leukoencephalopathies in adults

artículo científico publicado en 2017

Clinical and pathological features of an Alzheimer's disease patient with the MAPT Delta K280 mutation

artículo científico publicado en 2007

Clinicopathologic and molecular spectrum of RNASEH1-related mitochondrial disease

artículo científico publicado en 2017

Common genetic variants at the CRAC1 (HMPS) locus on chromosome 15q13.3 influence colorectal cancer risk

artículo científico publicado en 2007

Corrigendum: Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia

artículo científico publicado en 2017

Cumulative impact of common genetic variants and other risk factors on colorectal cancer risk in 42,103 individuals

artículo científico publicado en 2012

DNA isolation protocol effects on nuclear DNA analysis by microarrays, droplet digital PCR, and whole genome sequencing, and on mitochondrial DNA copy number estimation.

artículo científico publicado en 2017

De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions

artículo científico publicado en 2016

De novo single-nucleotide and copy number variation in discordant monozygotic twins reveals disease-related genes

artículo científico publicado en 2019

Detection of long repeat expansions from PCR-free whole-genome sequence data

artículo científico publicado en 2017

Evaluation of germline BMP4 mutation as a cause of colorectal cancer

artículo científico publicado en 2010

Fine-mapping of colorectal cancer susceptibility loci at 8q23.3, 16q22.1 and 19q13.11: refinement of association signals and use of in silico analysis to suggest functional variation and unexpected candidate target genes

artículo científico publicado en 2011

Fine-scale mapping of the 6p25.3 chronic lymphocytic leukaemia susceptibility locus

artículo científico publicado en 2010

GLS loss of function causes autosomal recessive spastic ataxia and optic atrophy.

artículo científico publicado en 2018

Genetic and phenotypic characterization of complex hereditary spastic paraplegia

artículo científico publicado en 2016

Genetic variation at the tau locus and clinical syndromes associated with progressive supranuclear palsy

artículo científico publicado en 2007

Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis

artículo científico publicado en 2016

Genotype-phenotype correlations and expansion of the molecular spectrum of AP4M1-related hereditary spastic paraplegia.

artículo científico publicado en 2017

Homozygous mutation in HSPB1 causing distal vacuolar myopathy and motor neuropathy

artículo científico publicado en 2017

Insufficient evidence for pathogenicity of SNCA His50Gln (H50Q) in Parkinson's disease

artículo científico publicado en 2017

Investigation of next-generation sequencing technologies as a diagnostic tool for amyotrophic lateral sclerosis.

artículo científico publicado en 2014

MAPT S305I mutation: implications for argyrophilic grain disease

MAPT expression and splicing is differentially regulated by brain region: relation to genotype and implication for tauopathies

artículo científico publicado en 2012

MIR-NATs repress MAPT translation and aid proteostasis in neurodegeneration

artículo científico publicado en 2021

MLH1-93G > A is a risk factor for MSI colorectal cancer

artículo científico publicado en 2011

Meta-analysis of genome-wide association data identifies four new susceptibility loci for colorectal cancer

artículo científico publicado en 2008

Meta-analysis of three genome-wide association studies identifies susceptibility loci for colorectal cancer at 1q41, 3q26.2, 12q13.13 and 20q13.33

artículo científico publicado en 2010

Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability

artículo científico publicado en 2006

Mitochondrial DNA Analysis from Exome Sequencing Data Improves Diagnostic Yield in Neurological Diseases

publication published on 01 April 2021

Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy

artículo científico publicado en 2018

Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy

artículo científico publicado en 2018

Multiple common susceptibility variants near BMP pathway loci GREM1, BMP4, and BMP2 explain part of the missing heritability of colorectal cancer

artículo científico publicado en 2011

Mutations in XRCC1 cause cerebellar ataxia and peripheral neuropathy

artículo científico publicado en 2018

Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis

artículo científico publicado en 2014

Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia

artículo científico publicado en 2013

Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.

artículo científico publicado en 2016

Novel CLN3 mutation causing autophagic vacuolar myopathy

artículo científico publicado en 2014

Parkinson's disease in GTP cyclohydrolase 1 mutation carriers

artículo científico publicado en 2014

Pathological tau burden and distribution distinguishes progressive supranuclear palsy-parkinsonism from Richardson's syndrome

artículo científico publicado en 2007

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

scientific article published on 28 July 2016

Refinement of the basis and impact of common 11q23.1 variation to the risk of developing colorectal cancer

article

Screening a UK amyotrophic lateral sclerosis cohort provides evidence of multiple origins of the C9orf72 expansion

artículo científico publicado en 2014

The 14q22.2 colorectal cancer variant rs4444235 shows cis-acting regulation of BMP4

scientific article published on 12 December 2011

The CDH1-160C>A polymorphism is a risk factor for colorectal cancer.

artículo científico publicado en 2009

The colorectal cancer risk at 18q21 is caused by a novel variant altering SMAD7 expression

artículo científico publicado en 2009

The tau H2 haplotype is almost exclusively Caucasian in origin

scientific article published on 01 October 2004

Untangling the tau gene association with neurodegenerative disorders.

artículo científico publicado en 2006

Validation of next-generation sequencing technologies in genetic diagnosis of dementia

artículo científico publicado en 2013

Variation at the TRIM11 locus modifies progressive supranuclear palsy phenotype

Word Recognition and Learning: Effects of Hearing Loss and Amplification Feature.

artículo científico publicado en 2017

Younger age of onset in familial amyotrophic lateral sclerosis is a result of pathogenic gene variants, rather than ascertainment bias

artículo científico publicado en 2018

Lista de obras de Alan Pittman

A 6.4 Mb duplication of the α-synuclein locus causing frontotemporal dementia and Parkinsonism: phenotype-genotype correlations

A comprehensive analysis of rare genetic variation in amyotrophic lateral sclerosis in the UK

A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3

A genome-wide association study identifies six susceptibility loci for chronic lymphocytic leukemia

A genome-wide association study of tag SNPs identify five novel colorectal cancer susceptibility loci

A genome-wide association study shows that common alleles of SMAD7 influence colorectal cancer risk

A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia

Additional rare variant analysis in Parkinson's disease cases with and without known pathogenic mutations: evidence for oligogenic inheritance

Allele-Specific Small Interfering RNA Corrects Aberrant Cellular Phenotype in Keratitis-Ichthyosis-Deafness Syndrome Keratinocytes

Allelic variation at the 8q23.3 colorectal cancer risk locus functions as a cis-acting regulator of EIF3H.

Analysis of the genetic variability in Parkinson's disease from Southern Spain.

Association of MAPT haplotype-tagging SNPs with sporadic Parkinson's disease

CHCHD10 Pro34Ser is not a highly penetrant pathogenic variant for amyotrophic lateral sclerosis and frontotemporal dementia

Characteristics of two distinct clinical phenotypes in pathologically proven progressive supranuclear palsy: Richardson's syndrome and PSP-parkinsonism

Clinical and genetic characterization of leukoencephalopathies in adults

Clinical and pathological features of an Alzheimer's disease patient with the MAPT Delta K280 mutation

Clinicopathologic and molecular spectrum of RNASEH1-related mitochondrial disease

Common genetic variants at the CRAC1 (HMPS) locus on chromosome 15q13.3 influence colorectal cancer risk

Corrigendum: Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia

Cumulative impact of common genetic variants and other risk factors on colorectal cancer risk in 42,103 individuals

DNA isolation protocol effects on nuclear DNA analysis by microarrays, droplet digital PCR, and whole genome sequencing, and on mitochondrial DNA copy number estimation.

De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions

De novo single-nucleotide and copy number variation in discordant monozygotic twins reveals disease-related genes

Detection of long repeat expansions from PCR-free whole-genome sequence data

Evaluation of germline BMP4 mutation as a cause of colorectal cancer

Fine-mapping of colorectal cancer susceptibility loci at 8q23.3, 16q22.1 and 19q13.11: refinement of association signals and use of in silico analysis to suggest functional variation and unexpected candidate target genes

Fine-scale mapping of the 6p25.3 chronic lymphocytic leukaemia susceptibility locus

GLS loss of function causes autosomal recessive spastic ataxia and optic atrophy.

Genetic and phenotypic characterization of complex hereditary spastic paraplegia

Genetic variation at the tau locus and clinical syndromes associated with progressive supranuclear palsy

Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis

Genotype-phenotype correlations and expansion of the molecular spectrum of AP4M1-related hereditary spastic paraplegia.

Homozygous mutation in HSPB1 causing distal vacuolar myopathy and motor neuropathy

Insufficient evidence for pathogenicity of SNCA His50Gln (H50Q) in Parkinson's disease

Investigation of next-generation sequencing technologies as a diagnostic tool for amyotrophic lateral sclerosis.

MAPT S305I mutation: implications for argyrophilic grain disease

MAPT expression and splicing is differentially regulated by brain region: relation to genotype and implication for tauopathies

MIR-NATs repress MAPT translation and aid proteostasis in neurodegeneration

MLH1-93G > A is a risk factor for MSI colorectal cancer

Meta-analysis of genome-wide association data identifies four new susceptibility loci for colorectal cancer

Meta-analysis of three genome-wide association studies identifies susceptibility loci for colorectal cancer at 1q41, 3q26.2, 12q13.13 and 20q13.33

Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability

Mitochondrial DNA Analysis from Exome Sequencing Data Improves Diagnostic Yield in Neurological Diseases

Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy

Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy

Multiple common susceptibility variants near BMP pathway loci GREM1, BMP4, and BMP2 explain part of the missing heritability of colorectal cancer

Mutations in XRCC1 cause cerebellar ataxia and peripheral neuropathy

Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis

Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia

Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.

Novel CLN3 mutation causing autophagic vacuolar myopathy

Parkinson's disease in GTP cyclohydrolase 1 mutation carriers

Pathological tau burden and distribution distinguishes progressive supranuclear palsy-parkinsonism from Richardson's syndrome

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

Refinement of the basis and impact of common 11q23.1 variation to the risk of developing colorectal cancer

Screening a UK amyotrophic lateral sclerosis cohort provides evidence of multiple origins of the C9orf72 expansion

The 14q22.2 colorectal cancer variant rs4444235 shows cis-acting regulation of BMP4

The CDH1-160C>A polymorphism is a risk factor for colorectal cancer.

The colorectal cancer risk at 18q21 is caused by a novel variant altering SMAD7 expression

The tau H2 haplotype is almost exclusively Caucasian in origin

Untangling the tau gene association with neurodegenerative disorders.

Validation of next-generation sequencing technologies in genetic diagnosis of dementia

Variation at the TRIM11 locus modifies progressive supranuclear palsy phenotype

Word Recognition and Learning: Effects of Hearing Loss and Amplification Feature.

Younger age of onset in familial amyotrophic lateral sclerosis is a result of pathogenic gene variants, rather than ascertainment bias