Lista de obras - Michael Baudis - Dominio Público Uruguay

2p21 Deletions in hypotonia-cystinuria syndrome

artículo científico publicado en 2012

A 10.7 Mb interstitial deletion of 13q21 without phenotypic effect defines a further non-pathogenic euchromatic variant

ABCB1 over-expression and drug-efflux in acute lymphoblastic leukemia cell lines with t(17;19) and E2A-HLF expression

artículo científico publicado en 2006

Allele-specific loss of heterozygosity in multiple colorectal adenomas: toward an integrated molecular cytogenetic map II.

artículo científico publicado en 2006

Analysis of genomic alterations in benign, atypical, and anaplastic meningiomas: toward a genetic model of meningioma progression

artículo científico publicado en 1997

Beacon v2 and Beacon networks: A “lingua franca” for federated data discovery in biomedical genomics, and beyond

artículo científico publicado en 2022

Biopsying parapsoriasis: quo vadis? Are morphological stains enough or are ancillary tests needed?

artículo científico publicado en 2014

CDCOCA: a statistical method to define complexity dependence of co-occuring chromosomal aberrations

artículo científico publicado en 2011

CDCOCA: a statistical method to define complexity dependent co-occurring chromosomal aberrations

artículo científico publicado en 2010

CNARA: reliability assessment for genomic copy number profiles

artículo científico publicado en 2016

Chromosomal changes characterize head and neck cancer with poor prognosis

artículo científico publicado en 2008

Chromosome 11p15 duplication in Silver-Russell syndrome due to a maternally inherited translocation t(11;15)

artículo científico publicado en 2010

Chromosome imbalances in papillary renal cell carcinoma and first cytogenetic data of familial cases analyzed by comparative genomic hybridization

artículo científico publicado en 1996

Chromothripsis-like patterns are recurring but heterogeneously distributed features in a survey of 22,347 cancer genome screens

artículo científico publicado en 2014

Combined single nucleotide polymorphism-based genomic mapping and global gene expression profiling identifies novel chromosomal imbalances, mechanisms and candidate genes important in the pathogenesis of T-cell prolymphocytic leukemia with inv(14)(q

artículo científico publicado en 2007

Comparative genomic hybridization for the analysis of leukemias and lymphomas

artículo científico publicado en 2001

Comprehensive characterization of genomic aberrations in gangliogliomas by CGH, array-based CGH and interphase FISH.

artículo científico publicado en 2008

DNA copy number alterations in central primitive neuroectodermal tumors and tumors of the pineal region: an international individual patient data meta-analysis

artículo científico publicado en 2012

Distance-based clustering of CGH data

artículo científico publicado en 2006

Efficacy of current molecular cytogenetic protocols for the diagnosis of chromosome aberrations in tumor specimens

artículo científico publicado en 1996

Enabling population assignment from cancer genomes with SNP2pop

artículo científico publicado en 2020

Federated discovery and sharing of genomic data using Beacons

artículo científico publicado en 2019

GA4GH: International policies and standards for data sharing across genomic research and healthcare

artículo científico publicado en 2021

Gain of chromosome arm 9p is characteristic of primary mediastinal B-cell lymphoma (MBL): comprehensive molecular cytogenetic analysis and presentation of a novel MBL cell line

artículo científico publicado en 2001

Genetic losses in breast cancer: toward an integrated molecular cytogenetic map

artículo científico publicado en 2005

Genomic imbalances in 5918 malignant epithelial tumors: an explorative meta-analysis of chromosomal CGH data

artículo científico publicado en 2007

Genomic instability of osteosarcoma cell lines in culture: impact on the prediction of metastasis relevant genes

artículo científico publicado en 2015

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

artículo científico publicado en 2012

High-level DNA amplifications are common genetic aberrations in B-cell neoplasms.

artículo científico publicado en 1997

Identification of a 21q22 duplication in a Silver-Russell syndrome patient further narrows down the Down syndrome critical region

Identification of genetic imbalances in malignant lymphoma using comparative genomic hybridization

artículo científico

Improved multiplex ligation-dependent probe amplification analysis identifies a deleterious PMS2 allele generated by recombination with crossover between PMS2 and PMS2CL.

artículo científico publicado en 2012

Increased expression of cellular retinol-binding protein 1 in laryngeal squamous cell carcinoma.

artículo científico publicado en 2010

Inferring progression models for CGH data

artículo científico publicado en 2009

Integrative genome-wide expression profiling identifies three distinct molecular subgroups of renal cell carcinoma with different patient outcome

artículo científico publicado en 2012

Krüppel-Like Factor 10 participates in cervical cancer immunoediting through transcriptional regulation of Pregnancy-Specific Beta-1 Glycoproteins.

artículo científico publicado en 2018

Losses at chromosome 4q are associated with poor survival in operable ductal pancreatic adenocarcinoma

artículo científico publicado en 2011

MUC1 oncogene amplification correlates with protein overexpression in invasive breast carcinoma cells

artículo científico publicado en 2010

Microarray comparative genomic hybridization detection of chromosomal imbalances in uterine cervix carcinoma

artículo científico publicado en 2005

Molecular karyotyping as a relevant diagnostic tool in children with growth retardation with Silver-Russell features

artículo científico publicado en 2012

Mountains and Chasms: Surveying the Oncogenomic Publication Landscape

scientific article published on 26 October 2018

Online database and bioinformatics toolbox to support data mining in cancer cytogenetics

artículo científico publicado en 2006

PKC signaling prevents irradiation-induced apoptosis of primary human fibroblasts

artículo científico publicado en 2013

PKCα and HMGB1 antagonistically control hydrogen peroxide-induced poly-ADP-ribose formation

artículo científico publicado en 2016

Potential of chromosomal and matrix-based comparative genomic hybridization for molecular diagnostics in lymphomas.

artículo científico publicado en 2001

Progenetix.net: an online repository for molecular cytogenetic aberration data

artículo científico publicado en 2001

Progenetix: 12 years of oncogenomic data curation

artículo científico publicado en 2013

Publisher Correction: Federated discovery and sharing of genomic data using Beacons

scientific article published on 01 April 2019

Quantifying cancer progression with conjunctive Bayesian networks

artículo científico publicado en 2009

Randomized study to evaluate the use of high-dose therapy as part of primary treatment for "aggressive" lymphoma

artículo científico publicado en 2002

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

artículo científico publicado en 2013

Recurrent loss of the Y chromosome and homozygous deletions within the pseudoautosomal region 1: association with male predominance in mantle cell lymphoma

artículo científico publicado en 2008

Recurrent loss, but lack of mutations, of the SMARCB1 tumor suppressor gene in T-cell prolymphocytic leukemia with TCL1A-TCRAD juxtaposition

artículo científico publicado en 2009

Registered access: authorizing data access

artículo científico publicado en 2018

SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndrome

artículo científico publicado en 2013

Silver-Russell patients showing a broad range of ICR1 and ICR2 hypomethylation in different tissues

artículo científico publicado en 2010

Specific genomic regions are differentially affected by copy number alterations across distinct cancer types, in aggregated cytogenetic data.

artículo científico publicado en 2012

Submicroscopic chromosomal imbalances in idiopathic Silver-Russell syndrome (SRS): the SRS phenotype overlaps with the 12q14 microdeletion syndrome

artículo científico publicado en 2009

The ELIXIR Human Copy Number Variations Community: building bioinformatics infrastructure for research

scientific article published on 13 October 2020

The GA4GH Variation Representation Specification: A computational framework for variation representation and federated identification

artículo científico publicado en 2021

The Progenetix oncogenomic resource in 2021

artículo científico publicado en 2021

The SIB Swiss Institute of Bioinformatics' resources: focus on curated databases

artículo científico publicado en 2016

The Ubiquitin Ligase TRIP12 Limits PARP1 Trapping and Constrains PARP Inhibitor Efficiency

scientific article published on 01 August 2020

Translocations involving 8q24 in Burkitt lymphoma and other malignant lymphomas: a historical review of cytogenetics in the light of todays knowledge

artículo científico publicado en 2008

Unequivocal delineation of clinicogenetic subgroups and development of a new model for improved outcome prediction in neuroblastoma

artículo científico publicado en 2005

arrayMap 2014: an updated cancer genome resource

artículo científico publicado en 2014

arrayMap: a reference resource for genomic copy number imbalances in human malignancies

artículo científico publicado en 2012

segment_liftover : a Python tool to convert segments between genome assemblies.

artículo científico publicado en 2018

t(11;14)-positive mantle cell lymphomas exhibit complex karyotypes and share similarities with B-cell chronic lymphocytic leukemia

scientific article published on 01 March 2000

Lista de obras de Michael Baudis

2p21 Deletions in hypotonia-cystinuria syndrome

A 10.7 Mb interstitial deletion of 13q21 without phenotypic effect defines a further non-pathogenic euchromatic variant

ABCB1 over-expression and drug-efflux in acute lymphoblastic leukemia cell lines with t(17;19) and E2A-HLF expression

Allele-specific loss of heterozygosity in multiple colorectal adenomas: toward an integrated molecular cytogenetic map II.

Analysis of genomic alterations in benign, atypical, and anaplastic meningiomas: toward a genetic model of meningioma progression

Beacon v2 and Beacon networks: A “lingua franca” for federated data discovery in biomedical genomics, and beyond

Biopsying parapsoriasis: quo vadis? Are morphological stains enough or are ancillary tests needed?

CDCOCA: a statistical method to define complexity dependence of co-occuring chromosomal aberrations

CDCOCA: a statistical method to define complexity dependent co-occurring chromosomal aberrations

CNARA: reliability assessment for genomic copy number profiles

Chromosomal changes characterize head and neck cancer with poor prognosis

Chromosome 11p15 duplication in Silver-Russell syndrome due to a maternally inherited translocation t(11;15)

Chromosome imbalances in papillary renal cell carcinoma and first cytogenetic data of familial cases analyzed by comparative genomic hybridization

Chromothripsis-like patterns are recurring but heterogeneously distributed features in a survey of 22,347 cancer genome screens

Combined single nucleotide polymorphism-based genomic mapping and global gene expression profiling identifies novel chromosomal imbalances, mechanisms and candidate genes important in the pathogenesis of T-cell prolymphocytic leukemia with inv(14)(q

Comparative genomic hybridization for the analysis of leukemias and lymphomas

Comprehensive characterization of genomic aberrations in gangliogliomas by CGH, array-based CGH and interphase FISH.

DNA copy number alterations in central primitive neuroectodermal tumors and tumors of the pineal region: an international individual patient data meta-analysis

Distance-based clustering of CGH data

Efficacy of current molecular cytogenetic protocols for the diagnosis of chromosome aberrations in tumor specimens

Enabling population assignment from cancer genomes with SNP2pop

Federated discovery and sharing of genomic data using Beacons

GA4GH: International policies and standards for data sharing across genomic research and healthcare

Gain of chromosome arm 9p is characteristic of primary mediastinal B-cell lymphoma (MBL): comprehensive molecular cytogenetic analysis and presentation of a novel MBL cell line

Genetic losses in breast cancer: toward an integrated molecular cytogenetic map

Genomic imbalances in 5918 malignant epithelial tumors: an explorative meta-analysis of chromosomal CGH data

Genomic instability of osteosarcoma cell lines in culture: impact on the prediction of metastasis relevant genes

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

High-level DNA amplifications are common genetic aberrations in B-cell neoplasms.

Identification of a 21q22 duplication in a Silver-Russell syndrome patient further narrows down the Down syndrome critical region

Identification of genetic imbalances in malignant lymphoma using comparative genomic hybridization

Improved multiplex ligation-dependent probe amplification analysis identifies a deleterious PMS2 allele generated by recombination with crossover between PMS2 and PMS2CL.

Increased expression of cellular retinol-binding protein 1 in laryngeal squamous cell carcinoma.

Inferring progression models for CGH data

Integrative genome-wide expression profiling identifies three distinct molecular subgroups of renal cell carcinoma with different patient outcome

Krüppel-Like Factor 10 participates in cervical cancer immunoediting through transcriptional regulation of Pregnancy-Specific Beta-1 Glycoproteins.

Losses at chromosome 4q are associated with poor survival in operable ductal pancreatic adenocarcinoma

MUC1 oncogene amplification correlates with protein overexpression in invasive breast carcinoma cells

Microarray comparative genomic hybridization detection of chromosomal imbalances in uterine cervix carcinoma

Molecular karyotyping as a relevant diagnostic tool in children with growth retardation with Silver-Russell features

Mountains and Chasms: Surveying the Oncogenomic Publication Landscape

Online database and bioinformatics toolbox to support data mining in cancer cytogenetics

PKC signaling prevents irradiation-induced apoptosis of primary human fibroblasts

PKCα and HMGB1 antagonistically control hydrogen peroxide-induced poly-ADP-ribose formation

Potential of chromosomal and matrix-based comparative genomic hybridization for molecular diagnostics in lymphomas.

Progenetix.net: an online repository for molecular cytogenetic aberration data

Progenetix: 12 years of oncogenomic data curation

Publisher Correction: Federated discovery and sharing of genomic data using Beacons

Quantifying cancer progression with conjunctive Bayesian networks

Randomized study to evaluate the use of high-dose therapy as part of primary treatment for "aggressive" lymphoma

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

Recurrent loss of the Y chromosome and homozygous deletions within the pseudoautosomal region 1: association with male predominance in mantle cell lymphoma

Recurrent loss, but lack of mutations, of the SMARCB1 tumor suppressor gene in T-cell prolymphocytic leukemia with TCL1A-TCRAD juxtaposition

Registered access: authorizing data access

SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndrome

Silver-Russell patients showing a broad range of ICR1 and ICR2 hypomethylation in different tissues

Specific genomic regions are differentially affected by copy number alterations across distinct cancer types, in aggregated cytogenetic data.

Submicroscopic chromosomal imbalances in idiopathic Silver-Russell syndrome (SRS): the SRS phenotype overlaps with the 12q14 microdeletion syndrome

The ELIXIR Human Copy Number Variations Community: building bioinformatics infrastructure for research

The GA4GH Variation Representation Specification: A computational framework for variation representation and federated identification

The Progenetix oncogenomic resource in 2021

The SIB Swiss Institute of Bioinformatics' resources: focus on curated databases

The Ubiquitin Ligase TRIP12 Limits PARP1 Trapping and Constrains PARP Inhibitor Efficiency

Translocations involving 8q24 in Burkitt lymphoma and other malignant lymphomas: a historical review of cytogenetics in the light of todays knowledge

Unequivocal delineation of clinicogenetic subgroups and development of a new model for improved outcome prediction in neuroblastoma

arrayMap 2014: an updated cancer genome resource

arrayMap: a reference resource for genomic copy number imbalances in human malignancies

segment_liftover : a Python tool to convert segments between genome assemblies.

t(11;14)-positive mantle cell lymphomas exhibit complex karyotypes and share similarities with B-cell chronic lymphocytic leukemia