2000, Wissenschaftsethik und Technikfolgenbeurteilung, ISBN 9783540679455, Volume Bd. 7, xxxi, 249
Book
FRONTIERS IN PHYSIOLOGY, ISSN 1664-042X, 02/2019, Volume 10, p. 134
Joubert syndrome (JS) is a congenital autosomal-recessive or-in rare cases-X-linked inherited disease. The diagnostic hallmark of the so-called molar tooth...
Xenopus | PHYSIOLOGY | PROTEIN | PROGESTERONE | Joubert syndrome | IDENTIFICATION | INDUCED BLOCKING FACTOR | ciliopathy | SYNDROME-RELATED DISORDER | GENE | MECKEL | molar tooth sign | cilia | MUTATIONS | PIBF1 | PRIMARY CILIA | Development and progression | Models | Genetic aspects | Research | Diagnosis
Xenopus | PHYSIOLOGY | PROTEIN | PROGESTERONE | Joubert syndrome | IDENTIFICATION | INDUCED BLOCKING FACTOR | ciliopathy | SYNDROME-RELATED DISORDER | GENE | MECKEL | molar tooth sign | cilia | MUTATIONS | PIBF1 | PRIMARY CILIA | Development and progression | Models | Genetic aspects | Research | Diagnosis
Journal Article
Human Mutation, ISSN 1059-7794, 12/2004, Volume 24, Issue 6, pp. 534 - 534
We have tested for large BRCA1 gene rearrangements in German high‐risk breast and ovarian cancer families previously screened negative for point mutations by...
Breast cancer | German | BRCA1 | MLPA | rearrangement | Gene Duplication | Breast Neoplasms, Male - genetics | Genetic Predisposition to Disease | Molecular Probe Techniques | Gene Frequency | Humans | Middle Aged | Male | Ovarian Neoplasms - genetics | Founder Effect | Breast Neoplasms - genetics | Gene Deletion | Gene Rearrangement | Polymerase Chain Reaction | Genes, BRCA2 | Female | Genes, BRCA1 | Germany | Cohort Studies
Breast cancer | German | BRCA1 | MLPA | rearrangement | Gene Duplication | Breast Neoplasms, Male - genetics | Genetic Predisposition to Disease | Molecular Probe Techniques | Gene Frequency | Humans | Middle Aged | Male | Ovarian Neoplasms - genetics | Founder Effect | Breast Neoplasms - genetics | Gene Deletion | Gene Rearrangement | Polymerase Chain Reaction | Genes, BRCA2 | Female | Genes, BRCA1 | Germany | Cohort Studies
Journal Article
Deutsches Arzteblatt International, ISSN 1866-0452, 10/2012, Volume 109, Issue 40, pp. 652 - 658
Journal Article
Blood, ISSN 0006-4971, 04/2010, Volume 115, Issue 16, pp. 3206 - 3214
textabstractThe Associazione Italiana di Ematologia Oncologia Pediatrica and the Berlin-Frankfurt-Münster Acute Lymphoblastic Leukemia (AIEOP-BFM ALL 2000)...
Journal Article
Blood, ISSN 0006-4971, 08/2011, Volume 118, Issue 8, pp. 2077 - 2084
textabstractThe prognostic value of MRD in large series of childhood T-ALL has not yet been established. Trial AIEOP-BFM-ALL 2000 introduced standardized...
THERAPY | PROGNOSTIC-FACTORS | GENE REARRANGEMENTS | PCR ANALYSIS | ACUTE LYMPHOBLASTIC-LEUKEMIA | NELARABINE | HEMATOLOGY | MINIMAL-RESIDUAL-DISEASE | LINEAGE | PRECURSOR-B-ALL | CLINICAL-SIGNIFICANCE | Precursor T-Cell Lymphoblastic Leukemia-Lymphoma - drug therapy | Prognosis | Prospective Studies | Gene Rearrangement, T-Lymphocyte | Humans | Risk Factors | Antineoplastic Combined Chemotherapy Protocols | Child, Preschool | Infant | Male | Neoplasm, Residual | Precursor B-Cell Lymphoblastic Leukemia-Lymphoma - genetics | Precursor B-Cell Lymphoblastic Leukemia-Lymphoma - immunology | Disease-Free Survival | Precursor B-Cell Lymphoblastic Leukemia-Lymphoma - drug therapy | Time Factors | Precursor T-Cell Lymphoblastic Leukemia-Lymphoma - genetics | Adolescent | Precursor T-Cell Lymphoblastic Leukemia-Lymphoma - classification | Female | Gene Rearrangement, B-Lymphocyte | Precursor T-Cell Lymphoblastic Leukemia-Lymphoma - immunology | Child
THERAPY | PROGNOSTIC-FACTORS | GENE REARRANGEMENTS | PCR ANALYSIS | ACUTE LYMPHOBLASTIC-LEUKEMIA | NELARABINE | HEMATOLOGY | MINIMAL-RESIDUAL-DISEASE | LINEAGE | PRECURSOR-B-ALL | CLINICAL-SIGNIFICANCE | Precursor T-Cell Lymphoblastic Leukemia-Lymphoma - drug therapy | Prognosis | Prospective Studies | Gene Rearrangement, T-Lymphocyte | Humans | Risk Factors | Antineoplastic Combined Chemotherapy Protocols | Child, Preschool | Infant | Male | Neoplasm, Residual | Precursor B-Cell Lymphoblastic Leukemia-Lymphoma - genetics | Precursor B-Cell Lymphoblastic Leukemia-Lymphoma - immunology | Disease-Free Survival | Precursor B-Cell Lymphoblastic Leukemia-Lymphoma - drug therapy | Time Factors | Precursor T-Cell Lymphoblastic Leukemia-Lymphoma - genetics | Adolescent | Precursor T-Cell Lymphoblastic Leukemia-Lymphoma - classification | Female | Gene Rearrangement, B-Lymphocyte | Precursor T-Cell Lymphoblastic Leukemia-Lymphoma - immunology | Child
Journal Article
Nature Genetics, ISSN 1061-4036, 05/2009, Volume 41, Issue 5, pp. 585 - 590
Genome-wide association studies (GWAS) have identified seven breast cancer susceptibility loci, but these explain only a small fraction of the familial risk of...
COMMON VARIANTS | CONFER SUSCEPTIBILITY | GENETICS & HEREDITY | GENOME-WIDE ASSOCIATION | Genetic Predisposition to Disease - genetics | Breast Neoplasms - genetics | Breast Neoplasms - pathology | Humans | Disease Susceptibility - metabolism | Female | Genotype | Chromosome Mapping | Genome, Human | Chromosomes, Human, Pair 17 - genetics | Chromosomes, Human, Pair 3 - genetics | Breast cancer | Genetic aspects | Disease susceptibility | Research | Single nucleotide polymorphisms | Risk factors | Medical research | Genetic markers | Gene loci | Hospitals | Regression analysis | chromosome 3 | Medical and Health Sciences | MEDICINE | Medicin och hälsovetenskap | MEDICIN
COMMON VARIANTS | CONFER SUSCEPTIBILITY | GENETICS & HEREDITY | GENOME-WIDE ASSOCIATION | Genetic Predisposition to Disease - genetics | Breast Neoplasms - genetics | Breast Neoplasms - pathology | Humans | Disease Susceptibility - metabolism | Female | Genotype | Chromosome Mapping | Genome, Human | Chromosomes, Human, Pair 17 - genetics | Chromosomes, Human, Pair 3 - genetics | Breast cancer | Genetic aspects | Disease susceptibility | Research | Single nucleotide polymorphisms | Risk factors | Medical research | Genetic markers | Gene loci | Hospitals | Regression analysis | chromosome 3 | Medical and Health Sciences | MEDICINE | Medicin och hälsovetenskap | MEDICIN
Journal Article
BLOOD, ISSN 0006-4971, 04/2010, Volume 115, Issue 16, pp. 3206 - 3214
The Associazione Italiana di Ematologia Oncologia Pediatrica and the Berlin-Frankfurt-Munster Acute Lymphoblastic Leukemia (AIEOP-BFM ALL 2000) study has for...
TRIAL | THERAPY | RECEPTOR GENE REARRANGEMENTS | PCR ANALYSIS | QUANTIFICATION | CLASSIFICATION | HEMATOLOGY | MINIMAL-RESIDUAL-DISEASE | CHILDHOOD | CHEMOTHERAPY | CLINICAL-SIGNIFICANCE | Gene Rearrangement, T-Lymphocyte - genetics | Prognosis | Biomarkers, Tumor - analysis | Humans | Receptors, Antigen, B-Cell | Kaplan-Meier Estimate | Child, Preschool | Infant | Precursor Cell Lymphoblastic Leukemia-Lymphoma - mortality | Treatment Outcome | Reverse Transcriptase Polymerase Chain Reaction | Remission Induction | Neoplasm, Residual | Precursor Cell Lymphoblastic Leukemia-Lymphoma - genetics | Disease-Free Survival | Precursor Cell Lymphoblastic Leukemia-Lymphoma - drug therapy | Antineoplastic Combined Chemotherapy Protocols - therapeutic use | Adolescent | Gene Rearrangement, B-Lymphocyte | Receptors, Antigen, T-Cell - genetics | Child
TRIAL | THERAPY | RECEPTOR GENE REARRANGEMENTS | PCR ANALYSIS | QUANTIFICATION | CLASSIFICATION | HEMATOLOGY | MINIMAL-RESIDUAL-DISEASE | CHILDHOOD | CHEMOTHERAPY | CLINICAL-SIGNIFICANCE | Gene Rearrangement, T-Lymphocyte - genetics | Prognosis | Biomarkers, Tumor - analysis | Humans | Receptors, Antigen, B-Cell | Kaplan-Meier Estimate | Child, Preschool | Infant | Precursor Cell Lymphoblastic Leukemia-Lymphoma - mortality | Treatment Outcome | Reverse Transcriptase Polymerase Chain Reaction | Remission Induction | Neoplasm, Residual | Precursor Cell Lymphoblastic Leukemia-Lymphoma - genetics | Disease-Free Survival | Precursor Cell Lymphoblastic Leukemia-Lymphoma - drug therapy | Antineoplastic Combined Chemotherapy Protocols - therapeutic use | Adolescent | Gene Rearrangement, B-Lymphocyte | Receptors, Antigen, T-Cell - genetics | Child
Journal Article
International Journal of Cancer, ISSN 0020-7136, 04/2015, Volume 136, Issue 8, pp. 1845 - 1855
Breast cancer (BC) is the leading cause of cancer‐related mortality in women worldwide. Changes in DNA methylation in peripheral blood could be associated with...
breast cancer | early detection | HYAL2 | methylation | marker | Breast cancer | Marker | Methylation | Early detection | POPULATION | CELLS | BIOMARKER | PERFORMANCE | SUSCEPTIBILITY | HIGH FAMILIAL RISK | OVARIAN-CANCER | HYPOMETHYLATION | MAMMOGRAPHY | ONCOLOGY | EPIGENOME-WIDE ASSOCIATION | Cell Adhesion Molecules - blood | Cell Adhesion Molecules - genetics | Genetic Predisposition to Disease - genetics | Early Detection of Cancer - methods | Oligonucleotide Array Sequence Analysis - methods | Humans | Middle Aged | Hyaluronoglucosaminidase - blood | DNA Methylation - genetics | Case-Control Studies | Biomarkers, Tumor - blood | Young Adult | Breast Neoplasms - genetics | Aged, 80 and over | Breast Neoplasms - blood | CpG Islands - genetics | Adult | Female | GPI-Linked Proteins - blood | Aged | Biomarkers, Tumor - genetics | Breast Neoplasms - diagnosis | Hyaluronoglucosaminidase - genetics | GPI-Linked Proteins - genetics | Analysis | Mortality | Genomics | DNA | Genetic research | Genetic aspects | T cells | Cancer | DNA methylation | Biomarkers | Blood
breast cancer | early detection | HYAL2 | methylation | marker | Breast cancer | Marker | Methylation | Early detection | POPULATION | CELLS | BIOMARKER | PERFORMANCE | SUSCEPTIBILITY | HIGH FAMILIAL RISK | OVARIAN-CANCER | HYPOMETHYLATION | MAMMOGRAPHY | ONCOLOGY | EPIGENOME-WIDE ASSOCIATION | Cell Adhesion Molecules - blood | Cell Adhesion Molecules - genetics | Genetic Predisposition to Disease - genetics | Early Detection of Cancer - methods | Oligonucleotide Array Sequence Analysis - methods | Humans | Middle Aged | Hyaluronoglucosaminidase - blood | DNA Methylation - genetics | Case-Control Studies | Biomarkers, Tumor - blood | Young Adult | Breast Neoplasms - genetics | Aged, 80 and over | Breast Neoplasms - blood | CpG Islands - genetics | Adult | Female | GPI-Linked Proteins - blood | Aged | Biomarkers, Tumor - genetics | Breast Neoplasms - diagnosis | Hyaluronoglucosaminidase - genetics | GPI-Linked Proteins - genetics | Analysis | Mortality | Genomics | DNA | Genetic research | Genetic aspects | T cells | Cancer | DNA methylation | Biomarkers | Blood
Journal Article
Lancet Oncology, ISSN 1470-2045, 2006, Volume 7, Issue 3, pp. 266 - 269
Large international biobank studies can make substantial contributions to scientific research by validation of the biological importance of previous research...
POPULATION | INFORMED-CONSENT | MULTIPLE-SCLEROSIS | ONCOLOGY | GENETIC RESEARCH | EPSTEIN-BARR-VIRUS | Ethics, Medical | Informed Consent | Genetic Predisposition to Disease | Tissue Banks - ethics | Confidentiality | Humans | Research | Tissue Donors
POPULATION | INFORMED-CONSENT | MULTIPLE-SCLEROSIS | ONCOLOGY | GENETIC RESEARCH | EPSTEIN-BARR-VIRUS | Ethics, Medical | Informed Consent | Genetic Predisposition to Disease | Tissue Banks - ethics | Confidentiality | Humans | Research | Tissue Donors
Journal Article
Blood, ISSN 0006-4971, 04/2016, Volume 127, Issue 17, pp. 2101 - 2112
Induction therapy for childhood acute lymphoblastic leukemia (ALL) traditionally includes prednisone; yet, dexamethasone may have higher antileukemic potency,...
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma - drug therapy | Prednisone - administration & dosage | Dexamethasone - administration & dosage | Humans | Kaplan-Meier Estimate | Proportional Hazards Models | Child, Preschool | Hematopoietic Stem Cell Transplantation | Infant | Male | Treatment Outcome | Combined Modality Therapy | Cranial Irradiation | Remission Induction | Dexamethasone - pharmacokinetics | Neoplasm, Residual | Disease-Free Survival | Precursor Cell Lymphoblastic Leukemia-Lymphoma - drug therapy | Precursor Cell Lymphoblastic Leukemia-Lymphoma - therapy | Antineoplastic Combined Chemotherapy Protocols - therapeutic use | Adolescent | Female | Methotrexate - administration & dosage | Child
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma - drug therapy | Prednisone - administration & dosage | Dexamethasone - administration & dosage | Humans | Kaplan-Meier Estimate | Proportional Hazards Models | Child, Preschool | Hematopoietic Stem Cell Transplantation | Infant | Male | Treatment Outcome | Combined Modality Therapy | Cranial Irradiation | Remission Induction | Dexamethasone - pharmacokinetics | Neoplasm, Residual | Disease-Free Survival | Precursor Cell Lymphoblastic Leukemia-Lymphoma - drug therapy | Precursor Cell Lymphoblastic Leukemia-Lymphoma - therapy | Antineoplastic Combined Chemotherapy Protocols - therapeutic use | Adolescent | Female | Methotrexate - administration & dosage | Child
Journal Article
Nature Communications, ISSN 2041-1723, 12/2018, Volume 9, Issue 1, pp. 1340 - 9
textabstractGenome-wide association studies (GWAS) have advanced our understanding of susceptibility to B-cell precursor acute lymphoblastic leukemia...
TRIAL | LYMPHOCYTIC-LEUKEMIA | IMPUTATION | METAANALYSIS | VARIANTS | RISK STRATIFICATION | MULTIDISCIPLINARY SCIENCES | DISEASE | SYSTEMATIC IDENTIFICATION | HLA-DPB1-ASTERISK-0201 | CHILDREN | Genetic Predisposition to Disease | Genome-Wide Association Study | Prognosis | Humans | Risk Factors | Child, Preschool | Male | HLA Antigens - genetics | Precursor B-Cell Lymphoblastic Leukemia-Lymphoma - genetics | Precursor B-Cell Lymphoblastic Leukemia-Lymphoma - immunology | Oncogene Proteins, Fusion - genetics | Female | Polymorphism, Single Nucleotide | Glycosyltransferases - genetics | Child | Core Binding Factor Alpha 2 Subunit - genetics | Acute lymphatic leukemia | Lymphocytes B | Leukemia | Chromosome 8 | Runx1 protein | Genomes | Children | Lymphatic leukemia | Risk management | Loci | Clinical Medicine | Medicinsk genetik | Basic Medicine | Medical Genetics | Medical and Health Sciences | Medicin och hälsovetenskap | Medicinska och farmaceutiska grundvetenskaper | Klinisk medicin | Cancer and Oncology | Cancer och onkologi
TRIAL | LYMPHOCYTIC-LEUKEMIA | IMPUTATION | METAANALYSIS | VARIANTS | RISK STRATIFICATION | MULTIDISCIPLINARY SCIENCES | DISEASE | SYSTEMATIC IDENTIFICATION | HLA-DPB1-ASTERISK-0201 | CHILDREN | Genetic Predisposition to Disease | Genome-Wide Association Study | Prognosis | Humans | Risk Factors | Child, Preschool | Male | HLA Antigens - genetics | Precursor B-Cell Lymphoblastic Leukemia-Lymphoma - genetics | Precursor B-Cell Lymphoblastic Leukemia-Lymphoma - immunology | Oncogene Proteins, Fusion - genetics | Female | Polymorphism, Single Nucleotide | Glycosyltransferases - genetics | Child | Core Binding Factor Alpha 2 Subunit - genetics | Acute lymphatic leukemia | Lymphocytes B | Leukemia | Chromosome 8 | Runx1 protein | Genomes | Children | Lymphatic leukemia | Risk management | Loci | Clinical Medicine | Medicinsk genetik | Basic Medicine | Medical Genetics | Medical and Health Sciences | Medicin och hälsovetenskap | Medicinska och farmaceutiska grundvetenskaper | Klinisk medicin | Cancer and Oncology | Cancer och onkologi
Journal Article
Nature Genetics, ISSN 1061-4036, 06/2010, Volume 42, Issue 6, pp. 492 - 494
Using data from a genome-wide association study of 907 individuals with childhood acute lymphoblastic leukemia (cases) and 2,398 controls and with validation...
LOCI | VARIANTS | SUSCEPTIBILITY | GENETICS & HEREDITY | GENOME-WIDE ASSOCIATION | Precursor Cell Lymphoblastic Leukemia-Lymphoma - genetics | Genetic Predisposition to Disease | Genome-Wide Association Study | Humans | Chromosomes, Human, Pair 9 | Genes, p16 | Case-Control Studies | Genetic aspects | Acute lymphocytic leukemia | Diagnosis | Research | Single nucleotide polymorphisms | Children | Health aspects | Risk factors | Studies | Haplotypes | Medical research | Genotype & phenotype | Hospitals | Project management | Colorectal cancer | Data collection
LOCI | VARIANTS | SUSCEPTIBILITY | GENETICS & HEREDITY | GENOME-WIDE ASSOCIATION | Precursor Cell Lymphoblastic Leukemia-Lymphoma - genetics | Genetic Predisposition to Disease | Genome-Wide Association Study | Humans | Chromosomes, Human, Pair 9 | Genes, p16 | Case-Control Studies | Genetic aspects | Acute lymphocytic leukemia | Diagnosis | Research | Single nucleotide polymorphisms | Children | Health aspects | Risk factors | Studies | Haplotypes | Medical research | Genotype & phenotype | Hospitals | Project management | Colorectal cancer | Data collection
Journal Article
Deutsches Aerzteblatt Online, ISSN 1866-0452, 10/2012
Journal Article