Lista de obras - Susanne Bens - Dominio Público Uruguay

A de novo 1.1Mb microdeletion of chromosome 19p13.11 provides indirect evidence for EPS15L1 to be a strong candidate for split hand split foot malformation

artículo científico publicado en 2011

A familial disorder of altered DNA-methylation

artículo científico publicado en 2014

A novel large deletion of the ICR1 region including H19 and putative enhancer elements

artículo científico publicado en 2015

AT-10ATYPICAL TERATOID RHABDOID TUMORS AND POORLY DIFFERENTIATED CHORDOMAS: DISTINCT MOLECULAR ENTITIES WITH SMARCB1/INI1 LOSS AND DISMAL PROGNOSIS.

artículo científico publicado en 2016

AT-11CRIBRIFORM NEUROEPITHELIAL TUMOR (CRINET): MOLECULAR CHARACTERIZATION OF A SMARCB1-DEFICIENT NON-RHABDOID TUMOR WITH FAVORABLE LONG-TERM OUTCOME.

artículo científico publicado en 2016

ATRT-06. CLINICAL AND MOLECULAR RISK FACTORS IN CHILDREN WITH ATYPICAL TERATOID/RHABDOID TUMOUR (AT/RT) - EVIDENCE FROM THE EU-RHAB REGISTRY

ATRT-16. CONGENITAL RHABDOID TUMORS AS A MAJOR CLINICAL CHALLENGE - A COLLABORATIVE EUROPEAN EFFORT

ATRT-17. ASSISTED REPRODUCTIVE TECHNOLOGIES AND THE DEVELOPMENT OF MALIGNANT RHABDOID TUMOURS

Additional molecular findings in 11p15-associated imprinting disorders: an urgent need for multi-locus testing

artículo científico publicado en 2014

Age and DNA-methylation subgroup as potential independent risk factors for treatment stratification in children with Atypical Teratoid/Rhabdoid Tumors (ATRT)

artículo científico publicado en 2019

Androgen receptor function links human sexual dimorphism to DNA methylation

artículo científico publicado en 2013

Angiogenic factors in patients with current major depressive disorder comorbid with borderline personality disorder

artículo científico publicado en 2008

Array-based DNA methylation analysis in individuals with developmental delay/intellectual disability and normal molecular karyotype

artículo científico publicado en 2015

Array-based DNA methylation profiling in male infertility reveals allele-specific DNA methylation in PIWIL1 and PIWIL2.

artículo científico

Atypical Teratoid/Rhabdoid Tumors Are Comprised of Three Epigenetic Subgroups with Distinct Enhancer Landscapes

artículo científico publicado en 2016

Atypical teratoid/rhabdoid tumor arising in a malignant glioma

artículo científico publicado en 2016

CCND2 and CCND3 hijack immunoglobulin light-chain enhancers in cyclin D1- mantle cell lymphoma

scientific article published on 11 December 2018

Clinical phenotypes of MAGEL2 mutations and deletions

artículo científico publicado en 2014

Clinical utility gene card for: Transient Neonatal Diabetes Mellitus, 6q24-related

artículo científico publicado en 2014

Conflicting results of prenatal FISH with different probes for Down's Syndrome critical regions associated with mosaicism for a de novo del(21)(q22) characterised by molecular karyotyping: Case report

artículo científico publicado en 2010

Congenital lipoid adrenal hyperplasia: functional characterization of three novel mutations in the STAR gene

artículo científico publicado en 2010

Cortisol, the cortisol-dehydroepiandrosterone ratio, and pro-inflammatory cytokines in patients with current major depressive disorder comorbid with borderline personality disorder

artículo científico publicado en 2005

Cribriform neuroepithelial tumor: molecular characterization of a SMARCB1-deficient non-rhabdoid tumor with favorable long-term outcome

artículo científico publicado en 2016

Cryptic insertion of MYC exons 2 and 3 into the immunoglobulin heavy chain locus detected by whole genome sequencing in a case of "MYC-negative" Burkitt lymphoma

scientific article published on 09 May 2019

DNA methylation analysis in nonalcoholic fatty liver disease suggests distinct disease-specific and remodeling signatures after bariatric surgery

artículo científico

DNA-methylation profiling of fetal tissues reveals marked epigenetic differences between chorionic and amniotic samples

artículo científico publicado en 2012

Desmoplastic myxoid tumor, SMARCB1-mutant: clinical, histopathological and molecular characterization of a pineal region tumor encountered in adolescents and adults

scientific article published on 16 November 2019

Epigenetic Repression of Androgen Receptor Transcription in Mutation-Negative Androgen Insensitivity Syndrome (AIS Type II)

artículo científico publicado en 2018

Frequency and characterization of DNA methylation defects in children born SGA.

artículo científico publicado en 2012

Functionally Null RAD51D Missense Mutation Associates Strongly with Ovarian Carcinoma

artículo científico publicado en 2017

Germline and somatic FGFR1 abnormalities in dysembryoplastic neuroepithelial tumors

artículo científico publicado en 2016

Germline variants in SMARCB1 and other members of the BAF chromatin-remodeling complex across human disease entities: a meta-analysis

Glial papillary tumour of the spinal cord with SMARCB1/INI1-loss and favourable long-term outcome

artículo científico publicado en 2017

Growth retardation, intellectual disability, facial anomalies, cataract, thoracic hypoplasia, and skeletal abnormalities: a novel phenotype.

artículo científico publicado en 2012

High resolution copy number analysis of IRF4 translocation-positive diffuse large B-cell and follicular lymphomas

artículo científico publicado en 2012

Identification of ZCCHC8 as fusion partner of ROS1 in a case of congenital glioblastoma multiforme with a t(6;12)(q21;q24.3).

artículo científico publicado en 2016

In vivo investigations of the effect of short- and long-term recombinant growth hormone treatment on DNA-methylation in humans

artículo científico publicado en 2015

Isolated trisomy 7q21.2-31.31 resulting from a complex familial rearrangement involving chromosomes 7, 9 and 10.

artículo científico publicado en 2011

LG-26GERMLINE AND SOMATIC FGFR1 ABNORMALITIES IN DYSEMBRYOPLASTIC NEUROEPITHELIAL TUMORS.

artículo científico publicado en 2016

MYC expression and translocation analyses in low-grade and transformed Follicular Lymphoma.

artículo científico publicado en 2017

Mechanisms of intracerebral lymphoma growth delineated in a syngeneic mouse model of central nervous system lymphoma

artículo científico publicado en 2013

Molecular characterization of acute lymphoblastic leukemia with high CRLF2 gene expression in childhood

artículo científico publicado en 2017

Molecular switch from MYC to MYCN expression in MYC protein negative Burkitt lymphoma cases

scientific article published on 20 November 2019

Mosaic genome-wide maternal isodiploidy: an extreme form of imprinting disorder presenting as prenatal diagnostic challenge

artículo científico publicado en 2017

Multiple DICER1-related tumors in a child with a large interstitial 14q32 deletion

artículo científico publicado en 2018

Multiplex ligation-dependent probe amplification analysis of the NR0B1(DAX1) locus enables explanation of phenotypic differences in patients with X-linked congenital adrenal hypoplasia

artículo científico publicado en 2012

NOTCH1, TP53, and MAP2K1 Mutations in Splenic Diffuse Red Pulp Small B-cell Lymphoma Are Associated With Progressive Disease

artículo científico publicado en 2015

Non-leukemic pediatric mixed phenotype acute leukemia/lymphoma: Genomic characterization and clinical outcome in a prospective trial for pediatric lymphoblastic lymphoma

artículo científico publicado en 2019

PLAGL1 epimutation and bladder exstrophy: Coincidence or concurrent etiology?

artículo científico publicado en 2016

Phenotypic spectrum and extent of DNA methylation defects associated with multilocus imprinting disturbances

artículo científico publicado en 2016

Poorly differentiated chordoma with SMARCB1/INI1 loss: a distinct molecular entity with dismal prognosis.

artículo científico publicado en 2016

Prognostic Significance of MYC Rearrangement and Translocation Partner in Diffuse Large B-Cell Lymphoma: A Study by the Lunenburg Lymphoma Biomarker Consortium

scientific article published on 09 September 2019

Reconstruction of rearranged T-cell receptor loci by whole genome and transcriptome sequencing gives insights into the initial steps of T-cell prolymphocytic leukemia

scientific article published on 29 November 2019

Recurrent loss of heterozygosity in 1p36 associated with TNFRSF14 mutations in IRF4 translocation negative pediatric follicular lymphomas

artículo científico publicado en 2013

Rhabdoid Tumor Predisposition Syndrome

artículo científico publicado en 2017

SWI/SNF-Komplex-assoziierte Tumordispositions-Syndrome

Sellar Region Atypical Teratoid/Rhabdoid Tumors (ATRT) in Adults Display DNA Methylation Profiles of the ATRT-MYC Subgroup

artículo científico publicado en 2018

Spinal cord atypical teratoid/rhabdoid tumors in children: Clinical, genetic, and outcome characteristics in a representative European cohort

scientific article published on 01 October 2019

The differentially methylated region of MEG8 is hypermethylated in patients with Temple syndrome

artículo científico publicado en 2015

The extraordinary challenge of treating patients with congenital rhabdoid tumors-a collaborative European effort

artículo científico publicado en 2018

The mutational landscape of Burkitt-like lymphoma with 11q aberration is distinct from that of Burkitt lymphoma

article

Transient spontaneous remission in congenital MLL-AF10 rearranged acute myeloid leukemia presenting with cardiorespiratory failure and meconium ileus

scientific article published on 29 August 2016

Two molecularly distinct atypical teratoid/rhabdoid tumors (or tumor components) occurring in an infant with rhabdoid tumor predisposition syndrome 1

artículo científico publicado en 2019

Lista de obras de Susanne Bens

A de novo 1.1Mb microdeletion of chromosome 19p13.11 provides indirect evidence for EPS15L1 to be a strong candidate for split hand split foot malformation

A familial disorder of altered DNA-methylation

A novel large deletion of the ICR1 region including H19 and putative enhancer elements

AT-10ATYPICAL TERATOID RHABDOID TUMORS AND POORLY DIFFERENTIATED CHORDOMAS: DISTINCT MOLECULAR ENTITIES WITH SMARCB1/INI1 LOSS AND DISMAL PROGNOSIS.

AT-11CRIBRIFORM NEUROEPITHELIAL TUMOR (CRINET): MOLECULAR CHARACTERIZATION OF A SMARCB1-DEFICIENT NON-RHABDOID TUMOR WITH FAVORABLE LONG-TERM OUTCOME.

ATRT-06. CLINICAL AND MOLECULAR RISK FACTORS IN CHILDREN WITH ATYPICAL TERATOID/RHABDOID TUMOUR (AT/RT) - EVIDENCE FROM THE EU-RHAB REGISTRY

ATRT-16. CONGENITAL RHABDOID TUMORS AS A MAJOR CLINICAL CHALLENGE - A COLLABORATIVE EUROPEAN EFFORT

ATRT-17. ASSISTED REPRODUCTIVE TECHNOLOGIES AND THE DEVELOPMENT OF MALIGNANT RHABDOID TUMOURS

Additional molecular findings in 11p15-associated imprinting disorders: an urgent need for multi-locus testing

Age and DNA-methylation subgroup as potential independent risk factors for treatment stratification in children with Atypical Teratoid/Rhabdoid Tumors (ATRT)

Androgen receptor function links human sexual dimorphism to DNA methylation

Angiogenic factors in patients with current major depressive disorder comorbid with borderline personality disorder

Array-based DNA methylation analysis in individuals with developmental delay/intellectual disability and normal molecular karyotype

Array-based DNA methylation profiling in male infertility reveals allele-specific DNA methylation in PIWIL1 and PIWIL2.

Atypical Teratoid/Rhabdoid Tumors Are Comprised of Three Epigenetic Subgroups with Distinct Enhancer Landscapes

Atypical teratoid/rhabdoid tumor arising in a malignant glioma

CCND2 and CCND3 hijack immunoglobulin light-chain enhancers in cyclin D1- mantle cell lymphoma

Clinical phenotypes of MAGEL2 mutations and deletions

Clinical utility gene card for: Transient Neonatal Diabetes Mellitus, 6q24-related

Conflicting results of prenatal FISH with different probes for Down's Syndrome critical regions associated with mosaicism for a de novo del(21)(q22) characterised by molecular karyotyping: Case report

Congenital lipoid adrenal hyperplasia: functional characterization of three novel mutations in the STAR gene

Cortisol, the cortisol-dehydroepiandrosterone ratio, and pro-inflammatory cytokines in patients with current major depressive disorder comorbid with borderline personality disorder

Cribriform neuroepithelial tumor: molecular characterization of a SMARCB1-deficient non-rhabdoid tumor with favorable long-term outcome

Cryptic insertion of MYC exons 2 and 3 into the immunoglobulin heavy chain locus detected by whole genome sequencing in a case of "MYC-negative" Burkitt lymphoma

DNA methylation analysis in nonalcoholic fatty liver disease suggests distinct disease-specific and remodeling signatures after bariatric surgery

DNA-methylation profiling of fetal tissues reveals marked epigenetic differences between chorionic and amniotic samples

Desmoplastic myxoid tumor, SMARCB1-mutant: clinical, histopathological and molecular characterization of a pineal region tumor encountered in adolescents and adults

Epigenetic Repression of Androgen Receptor Transcription in Mutation-Negative Androgen Insensitivity Syndrome (AIS Type II)

Frequency and characterization of DNA methylation defects in children born SGA.

Functionally Null RAD51D Missense Mutation Associates Strongly with Ovarian Carcinoma

Germline and somatic FGFR1 abnormalities in dysembryoplastic neuroepithelial tumors

Germline variants in SMARCB1 and other members of the BAF chromatin-remodeling complex across human disease entities: a meta-analysis

Glial papillary tumour of the spinal cord with SMARCB1/INI1-loss and favourable long-term outcome

Growth retardation, intellectual disability, facial anomalies, cataract, thoracic hypoplasia, and skeletal abnormalities: a novel phenotype.

High resolution copy number analysis of IRF4 translocation-positive diffuse large B-cell and follicular lymphomas

Identification of ZCCHC8 as fusion partner of ROS1 in a case of congenital glioblastoma multiforme with a t(6;12)(q21;q24.3).

In vivo investigations of the effect of short- and long-term recombinant growth hormone treatment on DNA-methylation in humans

Isolated trisomy 7q21.2-31.31 resulting from a complex familial rearrangement involving chromosomes 7, 9 and 10.

LG-26GERMLINE AND SOMATIC FGFR1 ABNORMALITIES IN DYSEMBRYOPLASTIC NEUROEPITHELIAL TUMORS.

MYC expression and translocation analyses in low-grade and transformed Follicular Lymphoma.

Mechanisms of intracerebral lymphoma growth delineated in a syngeneic mouse model of central nervous system lymphoma

Molecular characterization of acute lymphoblastic leukemia with high CRLF2 gene expression in childhood

Molecular switch from MYC to MYCN expression in MYC protein negative Burkitt lymphoma cases

Mosaic genome-wide maternal isodiploidy: an extreme form of imprinting disorder presenting as prenatal diagnostic challenge

Multiple DICER1-related tumors in a child with a large interstitial 14q32 deletion

Multiplex ligation-dependent probe amplification analysis of the NR0B1(DAX1) locus enables explanation of phenotypic differences in patients with X-linked congenital adrenal hypoplasia

NOTCH1, TP53, and MAP2K1 Mutations in Splenic Diffuse Red Pulp Small B-cell Lymphoma Are Associated With Progressive Disease

Non-leukemic pediatric mixed phenotype acute leukemia/lymphoma: Genomic characterization and clinical outcome in a prospective trial for pediatric lymphoblastic lymphoma

PLAGL1 epimutation and bladder exstrophy: Coincidence or concurrent etiology?

Phenotypic spectrum and extent of DNA methylation defects associated with multilocus imprinting disturbances

Poorly differentiated chordoma with SMARCB1/INI1 loss: a distinct molecular entity with dismal prognosis.

Prognostic Significance of MYC Rearrangement and Translocation Partner in Diffuse Large B-Cell Lymphoma: A Study by the Lunenburg Lymphoma Biomarker Consortium

Reconstruction of rearranged T-cell receptor loci by whole genome and transcriptome sequencing gives insights into the initial steps of T-cell prolymphocytic leukemia

Recurrent loss of heterozygosity in 1p36 associated with TNFRSF14 mutations in IRF4 translocation negative pediatric follicular lymphomas

Rhabdoid Tumor Predisposition Syndrome

SWI/SNF-Komplex-assoziierte Tumordispositions-Syndrome

Sellar Region Atypical Teratoid/Rhabdoid Tumors (ATRT) in Adults Display DNA Methylation Profiles of the ATRT-MYC Subgroup

Spinal cord atypical teratoid/rhabdoid tumors in children: Clinical, genetic, and outcome characteristics in a representative European cohort

The differentially methylated region of MEG8 is hypermethylated in patients with Temple syndrome

The extraordinary challenge of treating patients with congenital rhabdoid tumors-a collaborative European effort

The mutational landscape of Burkitt-like lymphoma with 11q aberration is distinct from that of Burkitt lymphoma

Transient spontaneous remission in congenital MLL-AF10 rearranged acute myeloid leukemia presenting with cardiorespiratory failure and meconium ileus

Two molecularly distinct atypical teratoid/rhabdoid tumors (or tumor components) occurring in an infant with rhabdoid tumor predisposition syndrome 1