Lista de obras - Martin J Larsen - Dominio Público Uruguay

A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency

artículo científico publicado en 2017

Acute hypoxia induces upregulation of microRNA-210 expression in glioblastoma spheroids

artículo científico publicado en 2015

Association of miR-548c-5p, miR-7-5p, miR-210-3p, miR-128-3p with recurrence in systemically untreated breast cancer.

artículo científico publicado en 2018

Bone structure in two adult subjects with impaired minor spliceosome function resulting from RNU4ATAC mutations causing microcephalic osteodysplastic primordial dwarfism type 1 (MOPD1).

artículo científico publicado en 2016

Clinical and molecular characterization of BRCA-associated breast cancer: results from the DBCG.

artículo científico publicado en 2017

Clinical relevance of sensitive and quantitative STAT3 mutation analysis using next-generation sequencing in T-cell large granular lymphocytic leukemia.

artículo científico publicado en 2014

Clonal expansion and linear genome evolution through breast cancer progression from pre-invasive stages to asynchronous metastasis

artículo científico publicado en 2015

Compound heterozygous mutations in two different domains of ALDH18A1 do not affect the amino acid levels in a patient with hereditary spastic paraplegia.

artículo científico publicado en 2018

DamX Controls Reversible Cell Morphology Switching in Uropathogenic Escherichia coli

artículo científico publicado en 2016

De Novo Variants in GRIA4 Lead to Intellectual Disability with or without Seizures and Gait Abnormalities.

artículo científico publicado en 2017

Differential long noncoding RNA profiling of BMI in twins

artículo científico publicado en 2020

Epigenetic signature of preterm birth in adult twins.

artículo científico publicado en 2018

Evaluation of Nine Somatic Variant Callers for Detection of Somatic Mutations in Exome and Targeted Deep Sequencing Data

artículo científico publicado en 2016

Exome sequencing revealed DNA variants in NCOR1, IGF2BP1, SGLT2 and NEK11 as potential novel causes of ketotic hypoglycemia in children

artículo científico publicado en 2020

Genomic Analyses of Breast Cancer Progression Reveal Distinct Routes of Metastasis Emergence.

artículo científico publicado en 2017

Germline variants in Hamartomatous Polyposis Syndrome-associated genes from patients with one or few hamartomatous polyps.

artículo científico publicado en 2016

Global Gene Expression Profiling and Transcription Factor Network Analysis of Cognitive Aging in Monozygotic Twins

artículo científico publicado en 2021

Global expression profiling of cognitive level and decline in middle-aged monozygotic twins

artículo científico publicado en 2019

Global gene expression profiling of telangiectasial tissue from patients with hereditary hemorrhagic telangiectasia

artículo científico

Hereditary breast cancer: clinical, pathological and molecular characteristics

artículo científico publicado en 2014

Identification of metastasis driver genes by massive parallel sequencing of successive steps of breast cancer progression

artículo científico publicado en 2018

Immunodeficiency associated with a nonsense mutation of IKBKB.

artículo científico publicado en 2014

Is MED13L-related intellectual disability a recognizable syndrome?

artículo científico publicado en 2018

Leucocytes Mutation load Declines with Age in Carriers of the m.3243A>G Mutation. A 10-year Prospective Cohort.

artículo científico publicado en 2017

Long non-coding RNA HOTAIR is an independent prognostic marker of metastasis in estrogen receptor-positive primary breast cancer

artículo científico publicado en 2013

Long non-coding RNA expression profiles in hereditary haemorrhagic telangiectasia

artículo científico publicado en 2014

Long non-coding RNA expression profiles predict metastasis in lymph node-negative breast cancer independently of traditional prognostic markers

artículo científico publicado en 2015

Microarray-based RNA profiling of breast cancer: batch effect removal improves cross-platform consistency.

artículo científico publicado en 2014

Molecular Concordance Between Primary Breast Cancer and Matched Metastases.

artículo científico publicado en 2016

Neonatal High Bone Mass With First Mutation of the NF-κB Complex: Heterozygous De Novo Missense (p.Asp512Ser) RELA (Rela/p65).

scientific article published on 14 July 2015

RNA profiling reveals familial aggregation of molecular subtypes in non-BRCA1/2 breast cancer families

artículo científico publicado en 2014

Use of next generation sequencing in head and neck squamous cell carcinomas: a review.

artículo científico

Lista de obras de Martin J Larsen

A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency

Acute hypoxia induces upregulation of microRNA-210 expression in glioblastoma spheroids

Association of miR-548c-5p, miR-7-5p, miR-210-3p, miR-128-3p with recurrence in systemically untreated breast cancer.

Bone structure in two adult subjects with impaired minor spliceosome function resulting from RNU4ATAC mutations causing microcephalic osteodysplastic primordial dwarfism type 1 (MOPD1).

Clinical and molecular characterization of BRCA-associated breast cancer: results from the DBCG.

Clinical relevance of sensitive and quantitative STAT3 mutation analysis using next-generation sequencing in T-cell large granular lymphocytic leukemia.

Clonal expansion and linear genome evolution through breast cancer progression from pre-invasive stages to asynchronous metastasis

Compound heterozygous mutations in two different domains of ALDH18A1 do not affect the amino acid levels in a patient with hereditary spastic paraplegia.

DamX Controls Reversible Cell Morphology Switching in Uropathogenic Escherichia coli

De Novo Variants in GRIA4 Lead to Intellectual Disability with or without Seizures and Gait Abnormalities.

Differential long noncoding RNA profiling of BMI in twins

Epigenetic signature of preterm birth in adult twins.

Evaluation of Nine Somatic Variant Callers for Detection of Somatic Mutations in Exome and Targeted Deep Sequencing Data

Exome sequencing revealed DNA variants in NCOR1, IGF2BP1, SGLT2 and NEK11 as potential novel causes of ketotic hypoglycemia in children

Genomic Analyses of Breast Cancer Progression Reveal Distinct Routes of Metastasis Emergence.

Germline variants in Hamartomatous Polyposis Syndrome-associated genes from patients with one or few hamartomatous polyps.

Global Gene Expression Profiling and Transcription Factor Network Analysis of Cognitive Aging in Monozygotic Twins

Global expression profiling of cognitive level and decline in middle-aged monozygotic twins

Global gene expression profiling of telangiectasial tissue from patients with hereditary hemorrhagic telangiectasia

Hereditary breast cancer: clinical, pathological and molecular characteristics

Identification of metastasis driver genes by massive parallel sequencing of successive steps of breast cancer progression

Immunodeficiency associated with a nonsense mutation of IKBKB.

Is MED13L-related intellectual disability a recognizable syndrome?

Leucocytes Mutation load Declines with Age in Carriers of the m.3243A>G Mutation. A 10-year Prospective Cohort.

Long non-coding RNA HOTAIR is an independent prognostic marker of metastasis in estrogen receptor-positive primary breast cancer

Long non-coding RNA expression profiles in hereditary haemorrhagic telangiectasia

Long non-coding RNA expression profiles predict metastasis in lymph node-negative breast cancer independently of traditional prognostic markers

Microarray-based RNA profiling of breast cancer: batch effect removal improves cross-platform consistency.

Molecular Concordance Between Primary Breast Cancer and Matched Metastases.

Neonatal High Bone Mass With First Mutation of the NF-κB Complex: Heterozygous De Novo Missense (p.Asp512Ser) RELA (Rela/p65).

RNA profiling reveals familial aggregation of molecular subtypes in non-BRCA1/2 breast cancer families

Use of next generation sequencing in head and neck squamous cell carcinomas: a review.