Search filters

List of works by 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 ⬇️

scientific article published on August 1, 1998

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

scientific article

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

scientific article published on 22 November 2005

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

scientific article published on 30 April 2013

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

scientific article published on 01 December 2001

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

scientific article published on 29 August 2013

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

scientific article published on October 1995

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

scientific article

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

scientific article

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

scientific article published on June 28, 2011

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

scientific article published on April 1, 1984

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

scientific article published on September 2008

Characterization of the transcriptional regulatory region of the human WT1 gene

scientific article published in November 1993

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

scientific article published on 15 March 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

scientific article

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

scientific article published on 27 March 2015

Clinical outcome and genotype in patients with hereditary multiple exostoses

scientific article published in December 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

scientific article

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

scientific article published on December 15, 2003

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

scientific article

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

scientific article

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

scientific article published on 28 December 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

scientific article

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

scientific article published on January 1979

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

scientific article published in May 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

scientific article published on June 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.

scientific article published in December 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.

scientific article

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

scientific article

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 ⬇️

scientific article published on March 13, 2013

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

scientific article published on July 2000

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

scientific article

Frequency and spectrum of cancers in the Peutz-Jeghers syndrome

scientific article

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

scientific article

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

scientific article published in March 2005

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.

scientific article published in May 2005

Genetics of pediatric renal tumors ⬇️

scientific article published on March 30, 2012

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

scientific article published on 14 October 2013

Genomic and transcriptomic heterogeneity of colorectal tumors arising in Lynch Syndrome

scientific article published on 20 July 2017

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

scientific article published on 01 January 2011

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

scientific article published in February 2004

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

scientific article

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

scientific article published on 24 March 2009

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

scientific article

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

scientific article published on 31 January 2007

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

scientific article

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

scientific article published on October 27, 1984

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

scientific article published in June 2011

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

scientific article published in February 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.

scientific article

Mutant avian erythroblastosis virus with restricted target cell specificity

scientific article published on December 1979

Mutations of p53 in Wilms' tumors

scientific article published on 01 June 1995

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

scientific article published on 27 February 2008

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

scientific article published on January 1977

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

scientific article published on 13 August 2012

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

scientific article published in January 2003

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

scientific article published on July 1, 1992

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

scientific article published on 16 August 2006

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

scientific article published on 8 May 2017

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

scientific article published on 01 February 2002

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

scientific article published in November 2002

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

scientific article published on 28 March 2013

STK11 genotyping and cancer risk in Peutz-Jeghers syndrome

scientific article published in May 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

scientific article published in April 2003

Slow progressive FSGS associated with an F392L WT1 mutation

scientific article published on 27 January 2004

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

scientific article published on June 1, 1998

Spontaneous in vitro transformation of primary human osteoblast-like cells

scientific article published in March 2010

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

scientific article

Target cells for transformation with avian leukosis viruses

scientific article published on January 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).

scientific article published on April 1995

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

scientific article published on 16 January 2007

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

scientific article published on 01 February 2007

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

scientific article published in December 2008

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

scientific article published on April 1978

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

scientific article published on 01 June 2004

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

scientific article published on June 2003

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

scientific article published in March 2008

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

scientific article published on October 1, 2003

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

scientific article published on February 1, 1998

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

scientific article

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

scientific article published on 23 December 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

scientific article

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

scientific article published in May 2005

Paulina is supported by:

About Paulina

Help