المؤلفون: V. Jagannathan, N. Besuchet‐Schmutz, Sonja Hofstetter, Nadine Regenscheit, Fiona Menzi, Thomas Mock, Kemal Mehinagic, F. Schmitz-Hsu, Mireille Meylan, M. Fragnière, Andreas Raemy, Cord Drögemüller, Eveline Studer

المصدر: Menzi, Fiona; Besuchet Schmutz, Nathalie; Fragnière, Muriel; Hofstetter, S; Jagannathan, Vidhya; Mock, Thomas; Raemy, Andreas; Studer, Eveline; Mehinagic, Kemal; Regenscheit, Nadine; Meylan, Mireille; Schmitz-Hsu, F; Drögemüller, Cord (2016). A transposable element insertion in APOB causes cholesterol deficiency in Holstein cattle. Animal genetics, 47(2), pp. 253-257. Blackwell 10.1111/age.12410 <http://dx.doi.org/10.1111/age.12410>
Animal Genetics

مصطلحات موضوعية: Male, 0301 basic medicine, Apolipoprotein B, gene test, diarrhea, Breeding, rearing success, Genetics, whole genome sequencing, education.field_of_study, 630 Agriculture, biology, lipid malabsorption, hypobetalipoproteinemia, Exons, 04 agricultural and veterinary sciences, General Medicine, RNAseq, Pedigree, Cholesterol, Mutation (genetic algorithm), 590 Animals (Zoology), Female, disruptive mutation, Transposable element, Heterozygote, Short Communication, Population, Short Communications, Cattle Diseases, 610 Medicine & health, 03 medical and health sciences, medicine, Animals, education, Gene, Apolipoproteins B, Whole genome sequencing, hypocholesterolemia, Sequence Analysis, RNA, 0402 animal and dairy science, medicine.disease, 040201 dairy & animal science, Mutagenesis, Insertional, Hypocholesterolemia, 030104 developmental biology, Haplotypes, DNA Transposable Elements, biology.protein, 570 Life sciences, Cattle, Animal Science and Zoology, Hypobetalipoproteinemia, Transcriptome

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ee21bf28cd6b597497c89a41b0fdfbd
https://doi.org/10.1111/age.12410

المؤلفون: Mathilde C.M. Kouwenhoven, Karima Mokhtari, René-Olivier Mirimanoff, Marie-France Hamou, Christian Hartmann, Danielle Martinet, Pieter Wesseling, Roger Stupp, A. von Deimling, M. J. van den Bent, Michael Weller, N Besuchet Schmutz, Wanyu L. Lambiv, Robert-Charles Janzer, Thierry Gorlia, Annie-Claire Diserens, Monika E. Hegi, Pierre Bady, Warren P. Mason

المساهمون: Pathology, CCA - Disease profiling, University of Zurich, Hegi, M E, Neurology, Radiation Oncology Groups, National Cancer Institute of Canada Clinical Trials Group, European Organisation for, Research, Treatment of Cancer Brain, Tumour

المصدر: Acta Neuropathologica, 123(6), 841-852. Springer Verlag
Acta Neuropathologica, 123, 841-52
Acta Neuropathologica, 123(6), 841-852. Springer-Verlag
Hegi, M E, Janzer, R C, Lambiv, W L, Gorlia, T, Kouwenhoven, M C, Hartmann, C, von Deimling, A, Martinet, D, Besuchet Schmutz, N, Diserens, A C, Hamou, M F, Bady, P, Weller, M, van den Bent, M J, Mason, W P, Mirimanoff, R O, Stupp, R, Mokhtari, K & Wesseling, P 2012, ' Presence of an oligodendroglioma-like component in newly diagnosed glioblastoma identifies a pathogenetically heterogeneous subgroup and lacks prognostic value: central pathology review of the EORTC_26981/NCIC_CE.3 trial ', Acta Neuropathologica, vol. 123, no. 6, pp. 841-852 . https://doi.org/10.1007/s00401-011-0938-4
Acta Neuropathologica, 123, 6, pp. 841-52
Acta neuropathologica
Acta Neuropathologica, vol. 123, no. 6, pp. 841-852

مصطلحات موضوعية: Male, Oncology, Pathology, medicine.medical_treatment, 2804 Cellular and Molecular Neuroscience, Central Pathology Review, 0302 clinical medicine, Brain Neoplasms, Chemoradiotherapy, Middle Aged, Prognosis, Translational research Tissue engineering and pathology [ONCOL 3], 3. Good health, Dacarbazine, ErbB Receptors, Treatment Outcome, 2728 Neurology (clinical), 030220 oncology & carcinogenesis, Female, medicine.drug, Adult, medicine.medical_specialty, IDH1, Adolescent, Oligodendroglioma, 610 Medicine & health, Pathology and Forensic Medicine, Young Adult, 03 medical and health sciences, Cellular and Molecular Neuroscience, Internal medicine, Temozolomide, medicine, Humans, Clinical significance, Aged, Brain Neoplasms/genetics, Brain Neoplasms/pathology, Clinical Trials, Phase III as Topic, DNA Methylation, Dacarbazine/analogs & derivatives, Dacarbazine/therapeutic use, Glioblastoma/genetics, Glioblastoma/pathology, Mutation, Oligodendroglioma/genetics, Oligodendroglioma/pathology, Receptor, Epidermal Growth Factor/genetics, Receptor, Epidermal Growth Factor/metabolism, Survival Analysis, Chemotherapy, business.industry, medicine.disease, 10040 Clinic for Neurology, nervous system diseases, 2734 Pathology and Forensic Medicine, Clinical trial, Component (group theory), Neurology (clinical), Glioblastoma, business, 030217 neurology & neurosurgery

وصف الملف: Sammelmappe1.pdf - application/pdf; application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e1a5a1d3c56b8ef520162e875697e9dd
https://hdl.handle.net/2066/109138

المؤلفون: Florian M. Wurm, R. Flaction, Danielle Martinet, Martin Bertschinger, Madiha Derouazi, Jacques S. Beckmann, David L. Hacker, N. Besuchet Schmutz, M. Wicht

المساهمون: Laboratory of Cellular Biotechnology [Lausanne] (LBTC), IGBB - Institute of Biological Engineering and Biotechnology, Groupe de Recherche et d'Etude du Processus Inflammatoire (GREPI), VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes (UGA), Laboratory of Cytogenetics, Centre Hospitalier Universitaire Vaudois [Lausanne] (CHUV), This work was supported by Pfizer Inc.

المصدر: Biochemical and Biophysical Research Communications
Biochemical and Biophysical Research Communications, Elsevier, 2006, 340 (4), pp.1069-77. ⟨10.1016/j.bbrc.2005.12.111⟩

مصطلحات موضوعية: 0106 biological sciences, [SDV.BIO]Life Sciences [q-bio]/Biotechnology, MESH: Chromosomes, Mammalian, DNA Mutational Analysis, Variation (Genetics), Aneuploidy, MESH: Cricetinae, 01 natural sciences, Biochemistry, CHO Cells/*metabolism, law.invention, MESH: Recombinant Proteins, chemistry.chemical_compound, MESH: Cricetulus, law, Cricetinae, MESH: Animals, MESH: Genetic Variation, MESH: DNA Mutational Analysis, [INFO.INFO-BT]Computer Science [cs]/Biotechnology, Calcium phosphate transfection, Recombination, Genetic, 0303 health sciences, Recombinant, medicine.diagnostic_test, Chinese hamster ovary cell, Chromosome Mapping, Karyotype, Microinjection, Recombinant Proteins, Recombinant DNA, MESH: Recombination, Genetic, Chromosome Aberrations/*statistics & numerical data, Ploidy, Karyotype CHO DG44, Green Fluorescent Proteins, Biophysics, [SDV.BC]Life Sciences [q-bio]/Cellular Biology, CHO Cells, Recombinant Proteins/*biosynthesis/*genetics, Biology, GFP, Chromosomes, Chinese hamster, 03 medical and health sciences, MESH: Green Fluorescent Proteins, Cricetulus, FISH, MESH: CHO Cells, 010608 biotechnology, Green Fluorescent Proteins/*genetics, medicine, MESH: Chromosome Aberrations, Animals, Molecular Biology, Genetic/genetics, 030304 developmental biology, Chromosome Aberrations, [SDV.GEN]Life Sciences [q-bio]/Genetics, Genetic Variation, Cell Biology, Mammalian/*genetics/ultrastructure, medicine.disease, biology.organism_classification, Molecular biology, Chromosomes, Mammalian, Recombination, chemistry, MESH: Chromosome Mapping, DNA, Fluorescence in situ hybridization

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fac3bd00f217a88c422d324ddbba24e3
https://pubmed.ncbi.nlm.nih.gov/16403443

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المؤلفون: Hegi ME; Department of Clinical Neurosciences, Lausanne University Hospital, Lausanne, Switzerland. Monika.Hegi@chuv.ch, Janzer RC, Lambiv WL, Gorlia T, Kouwenhoven MC, Hartmann C, von Deimling A, Martinet D, Besuchet Schmutz N, Diserens AC, Hamou MF, Bady P, Weller M, van den Bent MJ, Mason WP, Mirimanoff RO, Stupp R, Mokhtari K, Wesseling P

مؤلفون مشاركون: European Organisation for Research and Treatment of Cancer Brain Tumour and Radiation Oncology Groups, National Cancer Institute of Canada Clinical Trials Group

المصدر: Acta neuropathologica [Acta Neuropathol] 2012 Jun; Vol. 123 (6), pp. 841-52. Date of Electronic Publication: 2012 Jan 15.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 0412041 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-0533 (Electronic) Linking ISSN: 00016322 NLM ISO Abbreviation: Acta Neuropathol Subsets: MEDLINE

مواضيع طبية MeSH: Brain Neoplasms/*pathology , Glioblastoma/*pathology , Oligodendroglioma/*pathology, Adolescent ; Adult ; Aged ; Brain Neoplasms/genetics ; Brain Neoplasms/therapy ; Chemoradiotherapy ; Clinical Trials, Phase III as Topic ; DNA Methylation ; Dacarbazine/analogs & derivatives ; Dacarbazine/therapeutic use ; ErbB Receptors/genetics ; ErbB Receptors/metabolism ; Female ; Glioblastoma/genetics ; Glioblastoma/therapy ; Humans ; Male ; Middle Aged ; Mutation ; Oligodendroglioma/genetics ; Oligodendroglioma/therapy ; Prognosis ; Survival Analysis ; Temozolomide ; Treatment Outcome ; Young Adult

المؤلفون: Martinet D; Service of Medical Genetics, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland. danielle.martinet@chuv.ch, Filges I, Besuchet Schmutz N, Morris MA, Gaide AC, Dahoun S, Bottani A, Addor MC, Antonarakis SE, Beckmann JS, Béna F

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2008 Aug 15; Vol. 146A (16), pp. 2094-102.

نوع المنشور: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

مواضيع طبية MeSH: Chromosome Deletion*, Abnormalities, Multiple/*genetics , Chromosomes, Human, Pair 6/*genetics , Craniofacial Abnormalities/*genetics , Developmental Disabilities/*genetics , Intellectual Disability/*genetics, Child, Preschool ; Chromosome Inversion ; Female ; Genotype ; Humans ; In Situ Hybridization, Fluorescence ; Infant ; Karyotyping ; Male ; Oligonucleotide Array Sequence Analysis ; Phenotype