Lista de obras - Brigitte Royer-Pokora - Dominio Público Uruguay

A high proportion of mutations in the BRCA1 gene in German breast/ovarian cancer families with clustering of mutations in the 3′ third of the gene ⬇️

artículo científico publicado el 1 de agosto de 1998

A novel C8orf37 splice mutation and genotype-phenotype correlation for cone-rod dystrophy

artículo científico publicado en 2016

A novel WT1 missense mutation presenting with Denys-Drash syndrome and cortical atrophy

artículo científico publicado en 2005

A novel inverted 17p13.3 microduplication disrupting PAFAH1B1 (LIS1) in a girl with syndromic lissencephaly

artículo científico publicado en 2013

A novel post-transcriptional splicing form of the acute T cell leukemia proto-oncogene Lmo2

artículo científico publicado en 2001

A pooled analysis of the outcome of prospective colonoscopic surveillance for familial colorectal cancer

artículo científico publicado en 2013

A single ancestral gene of the human LIM domain oncogene family LMO in Drosophila: characterization of the Drosophila Dlmo gene

artículo científico publicado en 1995

Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database

artículo científico publicado en 2013

BASP1 is a transcriptional cosuppressor for the Wilms' tumor suppressor protein WT1

artículo científico publicado en 2004

Biallelic MLH1 SNP cDNA expression or constitutional promoter methylation can hide genomic rearrangements causing Lynch syndrome ⬇️

artículo científico publicado el 28 de junio de 2011

Biological and biochemical characterization of an SV40-transformed xeroderma pigmentosum cell line ⬇️

artículo científico publicado el 1 de abril de 1984

Characteristics of testicular dysgenesis syndrome and decreased expression of SRY and SOX9 in Frasier syndrome

artículo científico publicado en 2008

Characterization of the transcriptional regulatory region of the human WT1 gene

artículo científico publicado en 1993

Chemotherapy and terminal skeletal muscle differentiation in WT1-mutant Wilms tumors.

artículo científico publicado en 2018

Classification of a frameshift/extended and a stop mutation in WT1 as gain-of-function mutations that activate cell cycle genes and promote Wilms tumour cell proliferation

artículo científico publicado en 2014

Clinical and molecular characterization of patients with heterozygous mutations in wilms tumor suppressor gene 1.

artículo científico publicado en 2015

Clinical outcome and genotype in patients with hereditary multiple exostoses

artículo científico publicado en 2007

Clinical relevance of mutations in the Wilms tumor suppressor 1 gene WT1 and the cadherin-associated protein beta1 gene CTNNB1 for patients with Wilms tumors: results of long-term surveillance of 71 patients from International Society of Pediatric O

artículo científico publicado en 2008

Clinical, cytogenetic, and molecular observations in a patient with Pallister‐Killian‐syndrome with an unusual karyotype ⬇️

artículo científico publicado el 15 de diciembre de 2003

Comparative in silico analyses and experimental validation of novel splice site and missense mutations in the genes MLH1 and MSH2.

artículo científico publicado en 2010

Comparative performance analysis of human iPSC-derived and primary neural progenitor cells (NPC) grown as neurospheres in vitro

artículo científico publicado en 2017

Comprehensive Biology and Genetics Compendium of Wilms Tumor Cell Lines with Different <i>WT1</i> Mutations

artículo científico publicado en 2020

Correction: Frequent Long-Range Epigenetic Silencing of Protocadherin Gene Clusters on Chromosome 5q31 in Wilms' Tumor

article

Correlation of germ-line mutations and two-hit inactivation of the WT1 gene with Wilms tumors of stromal-predominant histology

artículo científico publicado en 1997

Defectiveness of avian erythroblastosis virus: synthesis of a 75K gag-related protein

artículo científico publicado en 1979

Delineation by molecular cytogenetics of 5q deletion breakpoints in myelodyplastic syndromes and acute myeloid leukemia

artículo científico publicado en 2006

Different CTNNB1 mutations as molecular genetic proof for the independent origin of four Wilms tumours in a patient with a novel germ line WT1 mutation

artículo científico publicado en 2007

Effective use of high-dose chemotherapy and autologous stem cell rescue for relapsed adult Wilms' tumor and a novel alteration in intron 1 of the WT1 gene.

artículo científico publicado en 2004

Efficacy of azacitidine is independent of molecular and clinical characteristics - an analysis of 128 patients with myelodysplastic syndromes or acute myeloid leukemia and a review of the literature.

artículo científico publicado en 2018

Establishment of a Conditionally Immortalized Wilms Tumor Cell Line with a Homozygous WT1 Deletion within a Heterozygous 11p13 Deletion and UPD Limited to 11p15.

artículo científico publicado en 2016

Evaluating the performance of clinical criteria for predicting mismatch repair gene mutations in Lynch syndrome: A comprehensive analysis of 3,671 families

article

Evaluation of Chromosome 11p Imbalances in Aniridia and Wilms Tumor Patients ⬇️

artículo científico publicado el 13 de marzo de 2013

Evidence for susceptibility genes to familial Wilms tumour in addition to WT1, FWT1 and FWT2

artículo científico publicado en 2000

Evidence for the multiple oncogenic potential of cloned leukemia virus: in vitro and in vitro studies with avian erythroblastosis virus

artículo científico publicado en 1976

Frequency and spectrum of cancers in the Peutz-Jeghers syndrome

artículo científico publicado en 2006

Frequent long-range epigenetic silencing of protocadherin gene clusters on chromosome 5q31 in Wilms' tumor

artículo científico publicado en 2009

Further evidence for heritability of an epimutation in one of 12 cases with MLH1 promoter methylation in blood cells clinically displaying HNPCC

scientific article published on 27 February 2008

Fusion of H4/D10S170 to PDGFRbeta in a patient with chronic myelomonocytic leukemia and long-term responsiveness to imatinib

scientific article published on 09 January 2007

Gene expression profiling of Philadelphia chromosome (Ph)-negative CD34+ hematopoietic stem and progenitor cells of patients with Ph-positive CML in major molecular remission during therapy with imatinib

artículo científico publicado en 2005

Gene symbol: STK11. Disease: Peutz-Jeghers syndrome

Gene symbol: STK11. Disease: Peutz-Jeghers syndrome.

artículo científico publicado en 2005

Genetics of pediatric renal tumors ⬇️

artículo científico publicado el 30 de marzo de 2012

Genome-wide analysis associates familial colorectal cancer with increases in copy number variations and a rare structural variation at 12p12.3.

artículo científico publicado en 2013

Genomic and transcriptomic heterogeneity of colorectal tumors arising in Lynch Syndrome

artículo científico

Germline Wilms tumor suppressor gene (WT1) mutation leading to isolated genital malformation without Wilms tumor or nephropathy

scientific article published on 01 March 2001

Heterogeneity of mitochondrial energy metabolism in classical triphasic Wilms tumor

artículo científico publicado en 2011

Hidden chromosomal aberrations are rare in primary myelodysplastic syndromes with evolution to acute myeloid leukaemia and normal cytogenetics

artículo científico publicado en 2004

Human laminin beta2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities

artículo científico publicado en 2004

Hyperactivation of the insulin-like growth factor receptor I signaling pathway is an essential event for cisplatin resistance of ovarian cancer cells

artículo científico publicado en 2009

Hypomethylation and aberrant expression of the glioma pathogenesis-related 1 gene in Wilms tumors

artículo científico publicado en 2007

Impaired glomerular maturation and lack of VEGF165b in Denys-Drash syndrome

artículo científico publicado en 2007

In vitro transformation with avian myelocytomatosis virus strain CMII: characterization of the virus and its target cells

artículo científico publicado en 1977

Isolation of UV-resistant revertants from a xeroderma pigmentosum complementation group A cell line ⬇️

artículo científico publicado el 27 de octubre de 1984

Missense variants in hMLH1 identified in patients from the German HNPCC consortium and functional studies

artículo científico publicado en 2011

Molecular cytogenetic profiling of complex karyotypes in primary myelodysplastic syndromes and acute myeloid leukemia

artículo científico publicado en 2006

Molecular definition of chromosome arm 5q deletion end points and detection of hidden aberrations in patients with myelodysplastic syndromes and isolated del(5q) using oligonucleotide array CGH.

artículo científico publicado en 2007

Mutant avian erythroblastosis virus with restricted target cell specificity

artículo científico publicado en 1979

Mutations of p53 in Wilms' tumors

artículo científico publicado el 1 de junio de 1995

No association between MUTYH and MSH6 germline mutations in 64 HNPCC patients

artículo científico publicado en 2008

Oncornavirus-induced sarcoma formation obscured by rapid development of lethal leukemia

artículo científico publicado en 1977

Pathological assessment of mismatch repair gene variants in Lynch syndrome: past, present, and future

artículo científico

Quantitative real-time reverse-transcription polymerase chain reaction for diagnosis of BCR-ABL positive leukemias and molecular monitoring following allogeneic stem cell transplantation

artículo científico publicado en 2003

RNA polymerase chain reaction detects different levels of four alternatively spliced WT1 transcripts in Wilms' tumors

artículo científico publicado el 1 de julio de 1992

Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2-associated disorders

artículo científico publicado en 2006

Reduction of the tumorigenic potential of human retinoblastoma cell lines by TFF1 overexpression involves p53/caspase signaling and miR-18a regulation.

artículo científico publicado en 2017

Refined mapping of allele loss at chromosome 10q23-26 in prostate cancer

artículo científico publicado en 2002

Reliable engraftment, low toxicity, and durable remissions following allogeneic blood stem cell transplantation with minimal conditioning

artículo científico publicado en 2002

Response to: Design of a core classification process for DNA mismatch repair variations of a priori unknown functional significance

artículo científico publicado en 2013

STK11 genotyping and cancer risk in Peutz-Jeghers syndrome

artículo científico publicado en 2005

Simultaneous occurrence of a t(9;22) (Ph) with a t(2;11) in a patient with CML and emergence of a new clone with the t(2;11) alone after imatinib mesylate treatment

artículo científico publicado en 2003

Slow progressive FSGS associated with an F392L WT1 mutation

artículo científico publicado en 2004

Spectrum of early onset nephrotic syndrome associated with WT1 missense mutations ⬇️

artículo científico publicado el 1 de junio de 1998

Spontaneous in vitro transformation of primary human osteoblast-like cells

artículo científico publicado en 2010

Structural chromosome abnormalities, increased DNA strand breaks and DNA strand break repair deficiency in dermal fibroblasts from old female human donors

artículo científico publicado en 2015

Target cells for transformation with avian leukosis viruses

artículo científico publicado en 1976

The TTG-2/RBTN2 T cell oncogene encodes two alternative transcripts from two promoters: the distal promoter is removed by most 11p13 translocations in acute T cell leukaemia's (T-ALL).

artículo científico

The additive effect of p53 Arg72Pro and RNASEL Arg462Gln genotypes on age of disease onset in Lynch syndrome patients with pathogenic germline mutations in MSH2 or MLH1

artículo científico publicado en 2007

The tyrosine-kinase inhibitor imatinib induces long-term remission in a patient with chronic myelogenous leukemia with translocation t(4;22)

artículo científico publicado en 2007

Therapy adapted to molecular response in patients with chronic myelogenous leukaemia in first chronic phase: results of the Duesseldorf study

artículo científico publicado en 2008

Transformation parameters in chicken fibroblasts transformed by AEV and MC29 avian leukemia viruses

artículo científico publicado en 1978

Twenty-four new cases of WT1 germline mutations and review of the literature: genotype/phenotype correlations for Wilms tumor development

artículo científico publicado en 2004

Two molecular subgroups of Wilms' tumors with or without WT1 mutations.

artículo científico publicado en 2003

Ulna/height ratio as clinical parameter separating EXT1 from EXT2 families?

artículo científico publicado en 2008

Unbalanced cryptic translocation der(14)t(9;14)(q34.3;q32.33) identified by subtelomeric FISH ⬇️

artículo científico publicado el 1 de octubre de 2003

Using gene carrier probability to select high risk families for identifying germline mutations in breast cancer susceptibility genes ⬇️

artículo científico publicado el 1 de febrero de 1998

WT1 mutants reveal SRPK1 to be a downstream angiogenesis target by altering VEGF splicing

artículo científico publicado en 2011

WT1-Mutant Wilms Tumor Progression Is Associated With Diverting Clonal Mutations of CTNNB1

artículo científico publicado en 2019

WT1-dependent sulfatase expression maintains the normal glomerular filtration barrier

scientific journal article

Wilms Tumors Arising at Young Age: A Genetic Basis to Distinguish Subgroups for Individualized Therapy

Wilms tumor cells with WT1 mutations have characteristic features of mesenchymal stem cells and express molecular markers of paraxial mesoderm

artículo científico publicado en 2010

Wilms' tumor-specific methylation pattern in 11p13 detected by PFGE

scientific article published on 01 September 1992

YB-1 provokes breast cancer through the induction of chromosomal instability that emerges from mitotic failure and centrosome amplification

artículo científico publicado en 2005

Lista de obras de Brigitte Royer-Pokora

A high proportion of mutations in the BRCA1 gene in German breast/ovarian cancer families with clustering of mutations in the 3′ third of the gene ⬇️

A novel C8orf37 splice mutation and genotype-phenotype correlation for cone-rod dystrophy

A novel WT1 missense mutation presenting with Denys-Drash syndrome and cortical atrophy

A novel inverted 17p13.3 microduplication disrupting PAFAH1B1 (LIS1) in a girl with syndromic lissencephaly

A novel post-transcriptional splicing form of the acute T cell leukemia proto-oncogene Lmo2

A pooled analysis of the outcome of prospective colonoscopic surveillance for familial colorectal cancer

A single ancestral gene of the human LIM domain oncogene family LMO in Drosophila: characterization of the Drosophila Dlmo gene

Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database

BASP1 is a transcriptional cosuppressor for the Wilms' tumor suppressor protein WT1

Biallelic MLH1 SNP cDNA expression or constitutional promoter methylation can hide genomic rearrangements causing Lynch syndrome ⬇️

Biological and biochemical characterization of an SV40-transformed xeroderma pigmentosum cell line ⬇️

Characteristics of testicular dysgenesis syndrome and decreased expression of SRY and SOX9 in Frasier syndrome

Characterization of the transcriptional regulatory region of the human WT1 gene

Chemotherapy and terminal skeletal muscle differentiation in WT1-mutant Wilms tumors.

Classification of a frameshift/extended and a stop mutation in WT1 as gain-of-function mutations that activate cell cycle genes and promote Wilms tumour cell proliferation

Clinical and molecular characterization of patients with heterozygous mutations in wilms tumor suppressor gene 1.

Clinical outcome and genotype in patients with hereditary multiple exostoses

Clinical relevance of mutations in the Wilms tumor suppressor 1 gene WT1 and the cadherin-associated protein beta1 gene CTNNB1 for patients with Wilms tumors: results of long-term surveillance of 71 patients from International Society of Pediatric O

Clinical, cytogenetic, and molecular observations in a patient with Pallister‐Killian‐syndrome with an unusual karyotype ⬇️

Comparative in silico analyses and experimental validation of novel splice site and missense mutations in the genes MLH1 and MSH2.

Comparative performance analysis of human iPSC-derived and primary neural progenitor cells (NPC) grown as neurospheres in vitro

Comprehensive Biology and Genetics Compendium of Wilms Tumor Cell Lines with Different <i>WT1</i> Mutations

Correction: Frequent Long-Range Epigenetic Silencing of Protocadherin Gene Clusters on Chromosome 5q31 in Wilms' Tumor

Correlation of germ-line mutations and two-hit inactivation of the WT1 gene with Wilms tumors of stromal-predominant histology

Defectiveness of avian erythroblastosis virus: synthesis of a 75K gag-related protein

Delineation by molecular cytogenetics of 5q deletion breakpoints in myelodyplastic syndromes and acute myeloid leukemia

Different CTNNB1 mutations as molecular genetic proof for the independent origin of four Wilms tumours in a patient with a novel germ line WT1 mutation

Effective use of high-dose chemotherapy and autologous stem cell rescue for relapsed adult Wilms' tumor and a novel alteration in intron 1 of the WT1 gene.

Efficacy of azacitidine is independent of molecular and clinical characteristics - an analysis of 128 patients with myelodysplastic syndromes or acute myeloid leukemia and a review of the literature.

Establishment of a Conditionally Immortalized Wilms Tumor Cell Line with a Homozygous WT1 Deletion within a Heterozygous 11p13 Deletion and UPD Limited to 11p15.

Evaluating the performance of clinical criteria for predicting mismatch repair gene mutations in Lynch syndrome: A comprehensive analysis of 3,671 families

Evaluation of Chromosome 11p Imbalances in Aniridia and Wilms Tumor Patients ⬇️

Evidence for susceptibility genes to familial Wilms tumour in addition to WT1, FWT1 and FWT2

Evidence for the multiple oncogenic potential of cloned leukemia virus: in vitro and in vitro studies with avian erythroblastosis virus

Frequency and spectrum of cancers in the Peutz-Jeghers syndrome

Frequent long-range epigenetic silencing of protocadherin gene clusters on chromosome 5q31 in Wilms' tumor

Further evidence for heritability of an epimutation in one of 12 cases with MLH1 promoter methylation in blood cells clinically displaying HNPCC

Fusion of H4/D10S170 to PDGFRbeta in a patient with chronic myelomonocytic leukemia and long-term responsiveness to imatinib

Gene expression profiling of Philadelphia chromosome (Ph)-negative CD34+ hematopoietic stem and progenitor cells of patients with Ph-positive CML in major molecular remission during therapy with imatinib

Gene symbol: STK11. Disease: Peutz-Jeghers syndrome

Gene symbol: STK11. Disease: Peutz-Jeghers syndrome

Gene symbol: STK11. Disease: Peutz-Jeghers syndrome

Gene symbol: STK11. Disease: Peutz-Jeghers syndrome

Gene symbol: STK11. Disease: Peutz-Jeghers syndrome

Gene symbol: STK11. Disease: Peutz-Jeghers syndrome.

Genetics of pediatric renal tumors ⬇️

Genome-wide analysis associates familial colorectal cancer with increases in copy number variations and a rare structural variation at 12p12.3.

Genomic and transcriptomic heterogeneity of colorectal tumors arising in Lynch Syndrome

Germline Wilms tumor suppressor gene (WT1) mutation leading to isolated genital malformation without Wilms tumor or nephropathy

Heterogeneity of mitochondrial energy metabolism in classical triphasic Wilms tumor

Hidden chromosomal aberrations are rare in primary myelodysplastic syndromes with evolution to acute myeloid leukaemia and normal cytogenetics

Human laminin beta2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities

Hyperactivation of the insulin-like growth factor receptor I signaling pathway is an essential event for cisplatin resistance of ovarian cancer cells

Hypomethylation and aberrant expression of the glioma pathogenesis-related 1 gene in Wilms tumors

Impaired glomerular maturation and lack of VEGF165b in Denys-Drash syndrome

In vitro transformation with avian myelocytomatosis virus strain CMII: characterization of the virus and its target cells

Isolation of UV-resistant revertants from a xeroderma pigmentosum complementation group A cell line ⬇️

Missense variants in hMLH1 identified in patients from the German HNPCC consortium and functional studies

Molecular cytogenetic profiling of complex karyotypes in primary myelodysplastic syndromes and acute myeloid leukemia

Molecular definition of chromosome arm 5q deletion end points and detection of hidden aberrations in patients with myelodysplastic syndromes and isolated del(5q) using oligonucleotide array CGH.

Mutant avian erythroblastosis virus with restricted target cell specificity

Mutations of p53 in Wilms' tumors

No association between MUTYH and MSH6 germline mutations in 64 HNPCC patients

Oncornavirus-induced sarcoma formation obscured by rapid development of lethal leukemia

Pathological assessment of mismatch repair gene variants in Lynch syndrome: past, present, and future

Quantitative real-time reverse-transcription polymerase chain reaction for diagnosis of BCR-ABL positive leukemias and molecular monitoring following allogeneic stem cell transplantation

RNA polymerase chain reaction detects different levels of four alternatively spliced WT1 transcripts in Wilms' tumors

Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2-associated disorders

Reduction of the tumorigenic potential of human retinoblastoma cell lines by TFF1 overexpression involves p53/caspase signaling and miR-18a regulation.

Refined mapping of allele loss at chromosome 10q23-26 in prostate cancer

Reliable engraftment, low toxicity, and durable remissions following allogeneic blood stem cell transplantation with minimal conditioning

Response to: Design of a core classification process for DNA mismatch repair variations of a priori unknown functional significance

STK11 genotyping and cancer risk in Peutz-Jeghers syndrome

Simultaneous occurrence of a t(9;22) (Ph) with a t(2;11) in a patient with CML and emergence of a new clone with the t(2;11) alone after imatinib mesylate treatment

Slow progressive FSGS associated with an F392L WT1 mutation

Spectrum of early onset nephrotic syndrome associated with WT1 missense mutations ⬇️

Spontaneous in vitro transformation of primary human osteoblast-like cells

Structural chromosome abnormalities, increased DNA strand breaks and DNA strand break repair deficiency in dermal fibroblasts from old female human donors

Target cells for transformation with avian leukosis viruses