Lista de obras - Auli Karhu - Dominio Público Uruguay

7q deletion mapping and expression profiling in uterine fibroids.

artículo científico publicado en 2005

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

article

AIP gene in pituitary adenoma predisposition

scientific article published on 01 July 2007

AIP inactivation leads to pituitary tumorigenesis through defective Gαi-cAMP signaling

artículo científico publicado en 2014

Allelic Imbalance at rs6983267 Suggests Selection of the Risk Allele in Somatic Colorectal Tumor Evolution

artículo científico publicado en 2008

Analysis of microsatellite variation in Pinus radiata reveals effects of genetic drift but no recent bottlenecks.

artículo científico publicado en 2006

Array comparative genomic hybridization identifies a distinct DNA copy number profile in renal cell cancer associated with hereditary leiomyomatosis and renal cell cancer

artículo científico publicado en 2009

Aryl hydrocarbon receptor interacting protein mutations seem not to associate with familial non-medullary thyroid cancer

artículo científico publicado en 2009

Aryl hydrocarbon receptor interacting protein(AIP) gene mutation analysis in children and adolescents with sporadic pituitary adenomas

article

Background Mutation Frequency in Microsatellite-Unstable Colorectal Cancer

artículo científico publicado en 2007

Clinical characterization, genetic mapping and whole-genome sequence analysis of a novel autosomal recessive intellectual disability syndrome

artículo científico publicado en 2014

Comparing EST-based genetic maps between Pinus sylvestris and Pinus taeda.

artículo científico publicado en 2003

Comprehensive evaluation of coding region point mutations in microsatellite‐unstable colorectal cancer

artículo científico publicado en 2018

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

artículo científico publicado en 2012

Definition of a minimal region of deletion of chromosome 7 in uterine leiomyomas by tiling-path microarray CGH and mutation analysis of known genes in this region

article

Do molecular markers reflect patterns of differentiation in adaptive traits of conifers?

artículo científico publicado en 1996

Downregulation of the hedgehog receptor PTCH1 in colorectal serrated adenocarcinomas is not caused by PTCH1 mutations.

artículo científico publicado en 2011

EXO1 variants occur commonly in normal population: evidence against a role in hereditary nonpolyposis colorectal cancer

artículo científico publicado en 2003

Eleven candidate susceptibility genes for common familial colorectal cancer

artículo científico publicado en 2013

Few FH mutations in sporadic counterparts of tumor types observed in hereditary leiomyomatosis and renal cell cancer families

scientific article published on 01 August 2002

Genome-wide allelotyping of 104 Finnish colorectal cancers reveals an excess of allelic imbalance in chromosome 20q in familial cases

artículo científico publicado en 2003

Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer

artículo científico publicado en 2002

Global metabolomic profiling of uterine leiomyomas.

artículo científico publicado en 2017

Impact of AIP and inhibitory G protein alpha 2 proteins on clinical features of sporadic GH-secreting pituitary adenomas.

artículo científico publicado en 2017

Impact of constitutional TET2 haploinsufficiency on molecular and clinical phenotype in humans

artículo científico publicado en 2019

Low-penetrance susceptibility variants in familial colorectal cancer

artículo científico publicado en 2010

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

artículo científico publicado en 2008

Mild pituitary phenotype in 3- and 12-month-old Aip-deficient male mice

artículo científico publicado en 2016

Mixed lineage kinase 3 gene mutations in mismatch repair deficient gastrointestinal tumours

artículo científico publicado en 2009

Modeling tumor predisposing FH mutations in yeast: effects on fumarase activity, growth phenotype and gene expression profile.

artículo científico publicado en 2006

Mutation analysis of inhibitory guanine nucleotide binding protein alpha (GNAI) loci in young and familial pituitary adenomas.

artículo científico publicado en 2014

Mutation analysis of three genes encoding novel LKB1-interacting proteins, BRG1, STRADalpha, and MO25alpha, in Peutz-Jeghers syndrome

artículo científico publicado en 2005

Mutation analysis ofMYH11in acute myeloid leukemia

artículo científico publicado en 2008

Mutations in the circadian gene CLOCK in colorectal cancer

artículo científico publicado en 2010

NOD23020insC Alone Is Not Sufficient for Colorectal Cancer Predisposition

artículo científico publicado en 2004

No evidence for a genetic modifier for renal cell cancer risk in HLRCC syndrome.

artículo científico publicado en 2010

No evidence for dual role of loss of heterozygosity in hereditary non-polyposis colorectal cancer

article

Preferential amplification ofAURKA 91A (Ile31) in familial colorectal cancers

article

Rapid expansion of microsatellite sequences in pines

artículo científico publicado en 2000

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

article

Screening for germline KCNQ1 and KCNE2 mutations in a set of somatotropinoma patients.

artículo científico publicado en 2018

Screening for microsatellite instability target genes in colorectal cancers.

artículo científico publicado en 2002

Somatic mutations and germline sequence variants in patients with familial colorectal cancer.

artículo científico publicado en 2010

Steroid-involved transcriptional regulation of human genes encoding prostatic acid phosphatase, prostate-specific antigen, and prostate-specific glandular kallikrein

artículo científico publicado en 1997

Stress-induced expression of a novel variant of human fumarate hydratase (FH).

artículo científico publicado en 2007

Systematic search for enhancer elements and somatic allelic imbalance at seven low-penetrance colorectal cancer predisposition loci.

artículo científico publicado en 2011

The common colorectal cancer predisposition SNP rs6983267 at chromosome 8q24 confers potential to enhanced Wnt signaling.

artículo científico publicado en 2009

Unregulated smooth-muscle myosin in human intestinal neoplasia

artículo científico publicado en 2008

Whole-Genome Sequencing of Growth Hormone (GH)-Secreting Pituitary Adenomas.

artículo científico publicado en 2015

Lista de obras de Auli Karhu

7q deletion mapping and expression profiling in uterine fibroids.

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

AIP gene in pituitary adenoma predisposition

AIP inactivation leads to pituitary tumorigenesis through defective Gαi-cAMP signaling

Allelic Imbalance at rs6983267 Suggests Selection of the Risk Allele in Somatic Colorectal Tumor Evolution

Analysis of microsatellite variation in Pinus radiata reveals effects of genetic drift but no recent bottlenecks.

Array comparative genomic hybridization identifies a distinct DNA copy number profile in renal cell cancer associated with hereditary leiomyomatosis and renal cell cancer

Aryl hydrocarbon receptor interacting protein mutations seem not to associate with familial non-medullary thyroid cancer

Aryl hydrocarbon receptor interacting protein(AIP) gene mutation analysis in children and adolescents with sporadic pituitary adenomas

Background Mutation Frequency in Microsatellite-Unstable Colorectal Cancer

Clinical characterization, genetic mapping and whole-genome sequence analysis of a novel autosomal recessive intellectual disability syndrome

Comparing EST-based genetic maps between Pinus sylvestris and Pinus taeda.

Comprehensive evaluation of coding region point mutations in microsatellite‐unstable colorectal cancer

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

Definition of a minimal region of deletion of chromosome 7 in uterine leiomyomas by tiling-path microarray CGH and mutation analysis of known genes in this region

Do molecular markers reflect patterns of differentiation in adaptive traits of conifers?

Downregulation of the hedgehog receptor PTCH1 in colorectal serrated adenocarcinomas is not caused by PTCH1 mutations.

EXO1 variants occur commonly in normal population: evidence against a role in hereditary nonpolyposis colorectal cancer

Eleven candidate susceptibility genes for common familial colorectal cancer

Few FH mutations in sporadic counterparts of tumor types observed in hereditary leiomyomatosis and renal cell cancer families

Genome-wide allelotyping of 104 Finnish colorectal cancers reveals an excess of allelic imbalance in chromosome 20q in familial cases

Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer

Global metabolomic profiling of uterine leiomyomas.

Impact of AIP and inhibitory G protein alpha 2 proteins on clinical features of sporadic GH-secreting pituitary adenomas.

Impact of constitutional TET2 haploinsufficiency on molecular and clinical phenotype in humans

Low-penetrance susceptibility variants in familial colorectal cancer

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

Mild pituitary phenotype in 3- and 12-month-old Aip-deficient male mice

Mixed lineage kinase 3 gene mutations in mismatch repair deficient gastrointestinal tumours

Modeling tumor predisposing FH mutations in yeast: effects on fumarase activity, growth phenotype and gene expression profile.

Mutation analysis of inhibitory guanine nucleotide binding protein alpha (GNAI) loci in young and familial pituitary adenomas.

Mutation analysis of three genes encoding novel LKB1-interacting proteins, BRG1, STRADalpha, and MO25alpha, in Peutz-Jeghers syndrome

Mutation analysis ofMYH11in acute myeloid leukemia

Mutations in the circadian gene CLOCK in colorectal cancer

NOD23020insC Alone Is Not Sufficient for Colorectal Cancer Predisposition

No evidence for a genetic modifier for renal cell cancer risk in HLRCC syndrome.

No evidence for dual role of loss of heterozygosity in hereditary non-polyposis colorectal cancer

Preferential amplification ofAURKA 91A (Ile31) in familial colorectal cancers

Rapid expansion of microsatellite sequences in pines

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

Screening for germline KCNQ1 and KCNE2 mutations in a set of somatotropinoma patients.

Screening for microsatellite instability target genes in colorectal cancers.

Somatic mutations and germline sequence variants in patients with familial colorectal cancer.

Steroid-involved transcriptional regulation of human genes encoding prostatic acid phosphatase, prostate-specific antigen, and prostate-specific glandular kallikrein

Stress-induced expression of a novel variant of human fumarate hydratase (FH).

Systematic search for enhancer elements and somatic allelic imbalance at seven low-penetrance colorectal cancer predisposition loci.

The common colorectal cancer predisposition SNP rs6983267 at chromosome 8q24 confers potential to enhanced Wnt signaling.

Unregulated smooth-muscle myosin in human intestinal neoplasia

Whole-Genome Sequencing of Growth Hormone (GH)-Secreting Pituitary Adenomas.