Brigitte Royer-Pokora
Royer-Pokora, Brigitte
VIAF ID: 8054163631456723690008 (Personal)
Permalink: http://viaf.org/viaf/8054163631456723690008
Preferred Forms
- 100 0 _ ‡a Brigitte Royer-Pokora
- 100 1 _ ‡a Royer-Pokora, Brigitte
4xx's: Alternate Name Forms (5)
5xx's: Related Names (1)
Works
Title | Sources |
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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 | |
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, cytogenetic, and molecular observations in a patient with Pallister‐Killian‐syndrome with an unusual karyotype | |
Clinical outcome and genotype in patients with hereditary multiple exostoses. | |
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 | |
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 | |
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. | |
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 | |
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 | |
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 | |
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. | |
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. | |
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 | |
No association between MUTYH and MSH6 germline mutations in 64 HNPCC patients | |
A novel C8orf37 splice mutation and genotype-phenotype correlation for cone-rod dystrophy | |
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 novel WT1 missense mutation presenting with Denys-Drash syndrome and cortical atrophy | |
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 | |
A pooled analysis of the outcome of prospective colonoscopic surveillance for familial colorectal cancer | |
Quantitative real-time reverse-transcription polymerase chain reaction for diagnosis of BCR-ABL positive leukemias and molecular monitoring following allogeneic stem cell transplantation | |
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 | |
RNA polymerase chain reaction detects different levels of four alternatively spliced WT1 transcripts in Wilms' tumors | |
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 | |
A single ancestral gene of the human LIM domain oncogene family LMO in Drosophila: characterization of the Drosophila Dlmo gene | |
Spectrum of early onset nephrotic syndrome associated with WT1 missense mutations. | |
Spontaneous in vitro transformation of primary human osteoblast-like cells. | |
STK11 genotyping and cancer risk in Peutz-Jeghers syndrome | |
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 | |
Therapy adapted to molecular response in patients with chronic myelogenous leukaemia in first chronic phase: results of the Duesseldorf study | |
Transformation parameters in chicken fibroblasts transformed by AEV and MC29 avian leukemia viruses | |
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). | |
Twenty-four new cases of WT1 germline mutations and review of the literature: genotype/phenotype correlations for Wilms tumor development | |
The tyrosine-kinase inhibitor imatinib induces long-term remission in a patient with chronic myelogenous leukemia with translocation t(4;22) | |
Ulna/height ratio as clinical parameter separating EXT1 from EXT2 families? | |
Unbalanced cryptic translocation der(14)t(9;14)(q34.3;q32.33) identified by subtelomeric FISH | |
Using gene carrier probability to select high risk families for identifying germline mutations in breast cancer susceptibility genes | |
Wilms tumor cells with WT1 mutations have characteristic features of mesenchymal stem cells and express molecular markers of paraxial mesoderm | |
Wilms' tumor-specific methylation pattern in 11p13 detected by PFGE | |
Wilms Tumors Arising at Young Age: A Genetic Basis to Distinguish Subgroups for Individualized Therapy | |
WT1-dependent sulfatase expression maintains the normal glomerular filtration barrier | |
WT1-Mutant Wilms Tumor Progression Is Associated With Diverting Clonal Mutations of CTNNB1 | |
WT1 mutants reveal SRPK1 to be a downstream angiogenesis target by altering VEGF splicing | |
YB-1 provokes breast cancer through the induction of chromosomal instability that emerges from mitotic failure and centrosome amplification. |