Lista de obras - Eric Pasmant - Dominio Público Uruguay

"MPNST Epigenetics"-Letter

scientific article published on 01 October 2019

2016 Children's Tumor Foundation conference on neurofibromatosis type 1, neurofibromatosis type 2, and schwannomatosis.

artículo científico publicado en 2018

A natural variant with a point mutation resulting in a homozygous Arg to His substitution at position 388 in prothrombin

artículo científico publicado en 2008

A severe neonatal presentation of factor II deficiency

artículo científico publicado en 2011

ANRIL, a long, noncoding RNA, is an unexpected major hotspot in GWAS.

scientific article published on 18 October 2010

ANRILou l’étrange histoire d’un grand ARN non codant

scientific article published on 01 June 2010

BAP1 complex promotes transcription by opposing PRC1-mediated H2A ubiquitylation

scientific article published in Nature Communications

BRCA2 Loss-of-Function and High Sensitivity to Cisplatin-Based Chemotherapy in a Patient With a Pleomorphic Soft Tissue Sarcoma: Effect of Genomic Medicine

scientific article published on 01 May 2018

Calling Chromosome Alterations, DNA Methylation Statuses, and Mutations in Tumors by Simple Targeted Next-Generation Sequencing: A Solution for Transferring Integrated Pangenomic Studies into Routine Practice?

artículo científico publicado en 2017

Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome.

scientific article published on 17 August 2007

Chaperoning 5S RNA assembly

artículo científico publicado en 2015

Characterization of a 7.6-Mb germline deletion encompassing the NF1 locus and about a hundred genes in an NF1 contiguous gene syndrome patient.

artículo científico publicado en 2008

Characterization of a germ-line deletion, including the entire INK4/ARF locus, in a melanoma-neural system tumor family: identification of ANRIL, an antisense noncoding RNA whose expression coclusters with ARF.

artículo científico publicado en 2007

Characterization of the nonallelic homologous recombination hotspot PRS3 associated with type-3NF1deletions

artículo científico publicado en 2011

Chemoresistant pleomorphic rhabdomyosarcoma: whole exome sequencing reveals underlying cancer predisposition and therapeutic options

article

Confirmation of mutation landscape of NF1-associated malignant peripheral nerve sheath tumors.

artículo científico publicado en 2017

Copy number variants and rasopathies: germline KRAS duplication in a patient with syndrome including pigmentation abnormalities

artículo científico publicado en 2016

Detection and characterization of NF1 microdeletions by custom high resolution array CGH.

artículo científico publicado en 2009

Detection and monitoring of circulating tumor DNA in adrenocortical carcinoma

artículo científico publicado en 2017

Different sized somatic NF1 locus rearrangements in neurofibromatosis 1-associated malignant peripheral nerve sheath tumors

artículo científico publicado en 2010

Differential expression of CCN1/CYR61, CCN3/NOV, CCN4/WISP1, and CCN5/WISP2 in neurofibromatosis type 1 tumorigenesis.

artículo científico publicado en 2010

Dual mTORC1/2 inhibition induces anti-proliferative effect in NF1-associated plexiform neurofibroma and malignant peripheral nerve sheath tumor cells.

artículo científico publicado en 2016

EZH1/2 function mostly within canonical PRC2 and exhibit proliferation-dependent redundancy that shapes mutational signatures in cancer

artículo científico publicado en 2019

Expression of ANRIL-Polycomb Complexes-CDKN2A/B/ARF Genes in Breast Tumors: Identification of a Two-Gene (EZH2/CBX7) Signature with Independent Prognostic Value

artículo científico publicado en 2016

Familial small-intestine carcinoids: Chromosomal alterations and germline inositol polyphosphate multikinase sequencing.

artículo científico publicado en 2016

First description of ABCB4 gene deletions in familial low phospholipid-associated cholelithiasis and oral contraceptives-induced cholestasis

artículo científico publicado en 2011

High Positive Correlations between ANRIL and p16-CDKN2A/p15-CDKN2B/p14-ARF Gene Cluster Overexpression in Multi-Tumor Types Suggest Deregulated Activation of an ANRIL-ARF Bidirectional Promoter

scientific article published on 21 August 2019

High specificity and sensitivity of NRAS Q61R immunohistochemistry (IHC) in melanomas

artículo científico publicado en 2016

Humanized Mouse Model to Study Type 1 Diabetes

artículo científico publicado en 2018

Identification by FFPE RNA-Seq of a new recurrent inversion leading to RBM10-TFE3 fusion in renal cell carcinoma with subtle TFE3 break-apart FISH pattern

artículo científico publicado en 2016

Identification of genes potentially involved in the increased risk of malignancy in NF1-microdeleted patients.

artículo científico publicado en 2010

Immunohistochemistry versus next-generation sequencing for the routine detection of BRAF V600E mutation in melanomas.

artículo científico publicado en 2014

Impaired PRC2 activity promotes transcriptional instability and favors breast tumorigenesis

artículo científico publicado en 2015

Involvement of Aryl hydrocarbon receptor in myelination and in human nerve sheath tumorigenesis.

artículo científico publicado en 2018

McCune Albright syndrome is a genetic predisposition to intraductal papillary and mucinous neoplasms of the pancreas associated pancreatic cancer in relation with GNAS somatic mutation - a case report

scientific article published on 01 December 2019

MicroRNAome profiling in benign and malignant neurofibromatosis type 1-associated nerve sheath tumors: evidences of PTEN pathway alterations in early NF1 tumorigenesis

artículo científico publicado en 2013

Mutations in SETD2 cause a novel overgrowth condition

artículo científico publicado en 2014

NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype

artículo científico publicado en 2010

NF1 molecular characterization and neurofibromatosis type I genotype-phenotype correlation: the French experience

artículo científico publicado en 2013

NF1 mutations identify molecular and clinical subtypes of lung adenocarcinomas

scientific article published on 14 June 2019

NF1 single and multi-exons copy number variations in neurofibromatosis type 1.

artículo científico publicado en 2015

NF1-like optic pathway gliomas in children: clinical and molecular characterization of this specific presentation

artículo científico publicado en 2019

Neurofibromatosis Type 1 Molecular Diagnosis: The RNA Point of View

artículo científico publicado en 2016

Neurofibromatosis type 1 molecular diagnosis: what can NGS do for you when you have a large gene with loss of function mutations?

artículo científico publicado en 2014

Neurofibromatosis type 1: from genotype to phenotype ⬇️

artículo científico publicado el 1 de agosto de 2012

Neurofibromatosis type 2 French cohort analysis using a comprehensive NF2 molecular diagnostic strategy

artículo científico publicado en 2015

One NF1 Mutation may Conceal Another

scientific article published on 22 August 2019

PRC2 loss amplifies Ras-driven transcription and confers sensitivity to BRD4-based therapies

artículo científico publicado en 2014

Phosphorylation of Merlin by Aurora A kinase appears necessary for mitotic progression

scientific article published on 11 July 2019

Prenatal features and neonatal management of severe hyperparathyroidism caused by the heterozygous inactivating calcium-sensing receptor variant, Arg185Gln: A case report and review of the literature

publication published on 09 June 2021

Primary giant cell tumor of the common bile duct: No mutation H3F3A found.

artículo científico publicado en 2017

Proposition of adjustments to the ACMG-AMP framework for the interpretation of MEN1 missense variants

scientific article published on 28 March 2019

Proteome analysis of formalin-fixed paraffin-embedded colorectal adenomas reveals the heterogeneous nature of traditional serrated adenomas compared to other colorectal adenomas

artículo científico publicado en 2019

RAS MAPK inhibitors deregulation in leukemia

artículo científico publicado en 2015

RAS-MAPK pathway epigenetic activation in cancer: miRNAs in action

artículo científico publicado en 2015

Relevance of MPNST cell lines as models for NF1 associated-tumors

artículo científico publicado en 2013

Role of noncoding RNA ANRIL in genesis of plexiform neurofibromas in neurofibromatosis type 1.

artículo científico publicado en 2011

SETD2 and DNMT3A screen in the Sotos-like syndrome French cohort

artículo científico publicado en 2016

SPRED1 disorder and predisposition to leukemia in children.

artículo científico publicado en 2009

SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype.

artículo científico publicado en 2009

SPRED1, a RAS MAPK pathway inhibitor that causes Legius syndrome, is a tumour suppressor downregulated in paediatric acute myeloblastic leukaemia

artículo científico publicado en 2014

Shifting the Balance of Activating and Inhibitory Natural Killer Receptor Ligands on BRAFV600E Melanoma Lines with Vemurafenib.

artículo científico publicado en 2017

Should we genotype the sperm of fathers from patients with 'de novo' mutations?

artículo científico publicado en 2020

Somatic NF1 inactivation is a frequent event in sporadic pheochromocytoma

article

Synovial Sarcomas Do Not Show H3K27 Trimethylation Loss Using Immunohistochemistry

artículo científico publicado en 2017

Targeted next-generation sequencing for differential diagnosis of neurofibromatosis type 2, schwannomatosis, and meningiomatosis.

artículo científico publicado en 2018

The NRF2 transcriptional target NQO1 has low mRNA levels in TP53-mutated endometrial carcinomas

artículo científico publicado en 2019

The activation of the WNT signaling pathway is a Hallmark in neurofibromatosis type 1 tumorigenesis.

artículo científico publicado en 2013

Two independent de novo mutations as a cause for neurofibromatosis type 1 and Noonan syndrome in a single family

UMD-MEN1 database: an overview of the 370 MEN1 variants present in 1,676 patients from the French population

article

Unraveling the genetic predisposition of ribavirin-induced anaemia

artículo científico publicado en 2010

Unraveling the intrafamilial correlations and heritability of tumor types in MEN1: a Groupe d'étude des Tumeurs Endocrines study

artículo científico publicado en 2015

Unravelling the genetic basis of variable clinical expression in neurofibromatosis 1.

scientific article published on 05 May 2009

Uveal melanoma hepatic metastases mutation spectrum analysis using targeted next-generation sequencing of 400 cancer genes

artículo científico publicado en 2014

VKORC1 and CYP2C9 genetic polymorphisms in hepatic or portal vein thrombosis

scientific article published on 01 August 2010

[PRC2 alterations in NF1-associated malignant peripheral nerve sheath tumors: schwann cells with no complex]

artículo científico publicado en 2014

[SUMMIT: a basket study scores points]

scientific article published on 01 November 2018

Lista de obras de Eric Pasmant

"MPNST Epigenetics"-Letter

2016 Children's Tumor Foundation conference on neurofibromatosis type 1, neurofibromatosis type 2, and schwannomatosis.

A natural variant with a point mutation resulting in a homozygous Arg to His substitution at position 388 in prothrombin

A severe neonatal presentation of factor II deficiency

ANRIL, a long, noncoding RNA, is an unexpected major hotspot in GWAS.

ANRILou l’étrange histoire d’un grand ARN non codant

BAP1 complex promotes transcription by opposing PRC1-mediated H2A ubiquitylation

BRCA2 Loss-of-Function and High Sensitivity to Cisplatin-Based Chemotherapy in a Patient With a Pleomorphic Soft Tissue Sarcoma: Effect of Genomic Medicine

Calling Chromosome Alterations, DNA Methylation Statuses, and Mutations in Tumors by Simple Targeted Next-Generation Sequencing: A Solution for Transferring Integrated Pangenomic Studies into Routine Practice?

Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome.

Chaperoning 5S RNA assembly

Characterization of a 7.6-Mb germline deletion encompassing the NF1 locus and about a hundred genes in an NF1 contiguous gene syndrome patient.

Characterization of a germ-line deletion, including the entire INK4/ARF locus, in a melanoma-neural system tumor family: identification of ANRIL, an antisense noncoding RNA whose expression coclusters with ARF.

Characterization of the nonallelic homologous recombination hotspot PRS3 associated with type-3NF1deletions

Chemoresistant pleomorphic rhabdomyosarcoma: whole exome sequencing reveals underlying cancer predisposition and therapeutic options

Confirmation of mutation landscape of NF1-associated malignant peripheral nerve sheath tumors.

Copy number variants and rasopathies: germline KRAS duplication in a patient with syndrome including pigmentation abnormalities

Detection and characterization of NF1 microdeletions by custom high resolution array CGH.

Detection and monitoring of circulating tumor DNA in adrenocortical carcinoma

Different sized somatic NF1 locus rearrangements in neurofibromatosis 1-associated malignant peripheral nerve sheath tumors

Differential expression of CCN1/CYR61, CCN3/NOV, CCN4/WISP1, and CCN5/WISP2 in neurofibromatosis type 1 tumorigenesis.

Dual mTORC1/2 inhibition induces anti-proliferative effect in NF1-associated plexiform neurofibroma and malignant peripheral nerve sheath tumor cells.

EZH1/2 function mostly within canonical PRC2 and exhibit proliferation-dependent redundancy that shapes mutational signatures in cancer

Expression of ANRIL-Polycomb Complexes-CDKN2A/B/ARF Genes in Breast Tumors: Identification of a Two-Gene (EZH2/CBX7) Signature with Independent Prognostic Value

Familial small-intestine carcinoids: Chromosomal alterations and germline inositol polyphosphate multikinase sequencing.

First description of ABCB4 gene deletions in familial low phospholipid-associated cholelithiasis and oral contraceptives-induced cholestasis

High Positive Correlations between ANRIL and p16-CDKN2A/p15-CDKN2B/p14-ARF Gene Cluster Overexpression in Multi-Tumor Types Suggest Deregulated Activation of an ANRIL-ARF Bidirectional Promoter

High specificity and sensitivity of NRAS Q61R immunohistochemistry (IHC) in melanomas

Humanized Mouse Model to Study Type 1 Diabetes

Identification by FFPE RNA-Seq of a new recurrent inversion leading to RBM10-TFE3 fusion in renal cell carcinoma with subtle TFE3 break-apart FISH pattern

Identification of genes potentially involved in the increased risk of malignancy in NF1-microdeleted patients.

Immunohistochemistry versus next-generation sequencing for the routine detection of BRAF V600E mutation in melanomas.

Impaired PRC2 activity promotes transcriptional instability and favors breast tumorigenesis

Involvement of Aryl hydrocarbon receptor in myelination and in human nerve sheath tumorigenesis.

McCune Albright syndrome is a genetic predisposition to intraductal papillary and mucinous neoplasms of the pancreas associated pancreatic cancer in relation with GNAS somatic mutation - a case report

MicroRNAome profiling in benign and malignant neurofibromatosis type 1-associated nerve sheath tumors: evidences of PTEN pathway alterations in early NF1 tumorigenesis

Mutations in SETD2 cause a novel overgrowth condition

NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype

NF1 molecular characterization and neurofibromatosis type I genotype-phenotype correlation: the French experience

NF1 mutations identify molecular and clinical subtypes of lung adenocarcinomas

NF1 single and multi-exons copy number variations in neurofibromatosis type 1.

NF1-like optic pathway gliomas in children: clinical and molecular characterization of this specific presentation

Neurofibromatosis Type 1 Molecular Diagnosis: The RNA Point of View

Neurofibromatosis type 1 molecular diagnosis: what can NGS do for you when you have a large gene with loss of function mutations?

Neurofibromatosis type 1: from genotype to phenotype ⬇️

Neurofibromatosis type 2 French cohort analysis using a comprehensive NF2 molecular diagnostic strategy

One NF1 Mutation may Conceal Another

PRC2 loss amplifies Ras-driven transcription and confers sensitivity to BRD4-based therapies

Phosphorylation of Merlin by Aurora A kinase appears necessary for mitotic progression

Prenatal features and neonatal management of severe hyperparathyroidism caused by the heterozygous inactivating calcium-sensing receptor variant, Arg185Gln: A case report and review of the literature

Primary giant cell tumor of the common bile duct: No mutation H3F3A found.

Proposition of adjustments to the ACMG-AMP framework for the interpretation of MEN1 missense variants

Proteome analysis of formalin-fixed paraffin-embedded colorectal adenomas reveals the heterogeneous nature of traditional serrated adenomas compared to other colorectal adenomas

RAS MAPK inhibitors deregulation in leukemia

RAS-MAPK pathway epigenetic activation in cancer: miRNAs in action

Relevance of MPNST cell lines as models for NF1 associated-tumors

Role of noncoding RNA ANRIL in genesis of plexiform neurofibromas in neurofibromatosis type 1.

SETD2 and DNMT3A screen in the Sotos-like syndrome French cohort

SPRED1 disorder and predisposition to leukemia in children.

SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype.

SPRED1, a RAS MAPK pathway inhibitor that causes Legius syndrome, is a tumour suppressor downregulated in paediatric acute myeloblastic leukaemia

Shifting the Balance of Activating and Inhibitory Natural Killer Receptor Ligands on BRAFV600E Melanoma Lines with Vemurafenib.

Should we genotype the sperm of fathers from patients with 'de novo' mutations?

Somatic NF1 inactivation is a frequent event in sporadic pheochromocytoma

Synovial Sarcomas Do Not Show H3K27 Trimethylation Loss Using Immunohistochemistry

Targeted next-generation sequencing for differential diagnosis of neurofibromatosis type 2, schwannomatosis, and meningiomatosis.

The NRF2 transcriptional target NQO1 has low mRNA levels in TP53-mutated endometrial carcinomas

The activation of the WNT signaling pathway is a Hallmark in neurofibromatosis type 1 tumorigenesis.

Two independent de novo mutations as a cause for neurofibromatosis type 1 and Noonan syndrome in a single family

UMD-MEN1 database: an overview of the 370 MEN1 variants present in 1,676 patients from the French population

Unraveling the genetic predisposition of ribavirin-induced anaemia

Unraveling the intrafamilial correlations and heritability of tumor types in MEN1: a Groupe d'étude des Tumeurs Endocrines study

Unravelling the genetic basis of variable clinical expression in neurofibromatosis 1.

Uveal melanoma hepatic metastases mutation spectrum analysis using targeted next-generation sequencing of 400 cancer genes

VKORC1 and CYP2C9 genetic polymorphisms in hepatic or portal vein thrombosis

[PRC2 alterations in NF1-associated malignant peripheral nerve sheath tumors: schwann cells with no complex]

[SUMMIT: a basket study scores points]