المؤلفون: Wolfgang Raber, Raphael Schendl, Melisa Arikan, Andreas Scheuba, Peter Mazal, Valerie Stadlmann, Reinhard Lehner, Petra Zeitlhofer, Sabina Baumgartner-Parzer, Cornelia Gabler, Harald Esterbauer

المصدر: Frontiers in Endocrinology, Vol 15 (2024)

مصطلحات موضوعية: pheochromocytoma, paraganglioma, recurrence, survival, genetics, natural history, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fendo.2024.1419028/full; https://doaj.org/toc/1664-2392

URL الوصول: https://doaj.org/article/f1c7723d30c942caa71cf20c81027639

المؤلفون: Leo Kager, Raúl Jimenez‐Heredia, Petra Zeitlhofer, Wolfgang Novak, Sebastian K. Eder, Anna Segarra‐Roca, Alexandra Frohne, Karin Nebral, Matthias Haimel, René Geyeregger, Katharina Roetzer‐Londgin, Oskar A. Haas, Kaan Boztug

المصدر: HemaSphere, Vol 8, Iss 1, Pp n/a-n/a (2024)

مصطلحات موضوعية: Diseases of the blood and blood-forming organs, RC633-647.5

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2572-9241

URL الوصول: https://doaj.org/article/1389b30af5c249f6b082f2f8426229cf

المؤلفون: Fiona Poyer, Raúl Jimenez Heredia, Wolfgang Novak, Petra Zeitlhofer, Karin Nebral, Michael N. Dworzak, Oskar A. Haas, Kaan Boztug, Leo Kager

المصدر: Frontiers in Immunology, Vol 13 (2022)

مصطلحات موضوعية: NHEJ1, refractory cytopenia, monosomy 7, del(20q), myelodysplastic syndrome, NHEJ1-deficiency, Immunologic diseases. Allergy, RC581-607

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fimmu.2022.869047/full; https://doaj.org/toc/1664-3224

URL الوصول: https://doaj.org/article/31b1b085a0d24e99b3dd5720334df4c3

المؤلفون: Milen Minkov, Petra Zeitlhofer, Andreas Zoubek, Leo Kager, Simon Panzer, Oskar A. Haas

المصدر: Frontiers in Pediatrics, Vol 8 (2021)

مصطلحات موضوعية: thrombocytopenia, inherited, platelet disorders, children, Bernard-Soulier syndrome, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fped.2020.589812/full; https://doaj.org/toc/2296-2360

URL الوصول: https://doaj.org/article/0050b98df62049b8997cdf0e6b5c9762

المؤلفون: M. Reza Abbasi, Karin Nebral, Sabrina Haslinger, Andrea Inthal, Petra Zeitlhofer, Margit König, Dagmar Schinnerl, Stefan Köhrer, Sabine Strehl, Renate Panzer-Grümayer, Georg Mann, Andishe Attarbaschi, Oskar A. Haas

المصدر: Cancers; Volume 13; Issue 18; Pages: 4597

مصطلحات موضوعية: childhood acute lymphoblastic leukemia, chromosome 21, Down syndrome, array analysis, short tandem repeats

وصف الملف: application/pdf

Relation: Molecular Cancer Biology; https://dx.doi.org/10.3390/cancers13184597

الاتاحة: https://doi.org/10.3390/cancers13184597

المؤلفون: Fiona Poyer, Raúl Jimenez Heredia, Wolfgang Novak, Petra Zeitlhofer, Karin Nebral, Michael N. Dworzak, Oskar A. Haas, Kaan Boztug, Leo Kager

مصطلحات موضوعية: Immunology, Applied Immunology (incl. Antibody Engineering, Xenotransplantation and T-cell Therapies), Autoimmunity, Cellular Immunology, Humoural Immunology and Immunochemistry, Immunogenetics (incl. Genetic Immunology), Innate Immunity, Transplantation Immunology, Tumour Immunology, Immunology not elsewhere classified, Genetic Immunology, Animal Immunology, Veterinary Immunology, NHEJ1, refractory cytopenia, monosomy 7, del(20q), myelodysplastic syndrome, NHEJ1-deficiency

Relation: https://figshare.com/articles/dataset/Table_2_Case_Report_Refractory_Cytopenia_With_a_Switch_From_a_Transient_Monosomy_7_to_a_Disease-Ameliorating_del_20q_in_a_NHEJ1-Deficient_Long-term_Survivor_xlsx/20138972

الاتاحة: https://doi.org/10.3389/fimmu.2022.869047.s003
https://figshare.com/articles/dataset/Table_2_Case_Report_Refractory_Cytopenia_With_a_Switch_From_a_Transient_Monosomy_7_to_a_Disease-Ameliorating_del_20q_in_a_NHEJ1-Deficient_Long-term_Survivor_xlsx/20138972

المؤلفون: Fiona Poyer, Raúl Jimenez Heredia, Wolfgang Novak, Petra Zeitlhofer, Karin Nebral, Michael N. Dworzak, Oskar A. Haas, Kaan Boztug, Leo Kager

مصطلحات موضوعية: Immunology, Applied Immunology (incl. Antibody Engineering, Xenotransplantation and T-cell Therapies), Autoimmunity, Cellular Immunology, Humoural Immunology and Immunochemistry, Immunogenetics (incl. Genetic Immunology), Innate Immunity, Transplantation Immunology, Tumour Immunology, Immunology not elsewhere classified, Genetic Immunology, Animal Immunology, Veterinary Immunology, NHEJ1, refractory cytopenia, monosomy 7, del(20q), myelodysplastic syndrome, NHEJ1-deficiency

Relation: https://figshare.com/articles/dataset/DataSheet_1_Case_Report_Refractory_Cytopenia_With_a_Switch_From_a_Transient_Monosomy_7_to_a_Disease-Ameliorating_del_20q_in_a_NHEJ1-Deficient_Long-term_Survivor_zip/20138966

الاتاحة: https://doi.org/10.3389/fimmu.2022.869047.s001
https://figshare.com/articles/dataset/DataSheet_1_Case_Report_Refractory_Cytopenia_With_a_Switch_From_a_Transient_Monosomy_7_to_a_Disease-Ameliorating_del_20q_in_a_NHEJ1-Deficient_Long-term_Survivor_zip/20138966

المؤلفون: Margit König, Renate Panzer-Grümayer, Andishe Attarbaschi, Sabrina Haslinger, Karin Nebral, Dagmar Schinnerl, Stefan Köhrer, Petra Zeitlhofer, Georg Mann, Oskar A. Haas, Andrea Inthal, Sabine Strehl, M. Reza Abbasi

المصدر: Cancers
Volume 13
Issue 18
Cancers, Vol 13, Iss 4597, p 4597 (2021)

مصطلحات موضوعية: Genetics, array analysis, Cancer Research, Down syndrome, Chromosome, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, Biology, medicine.disease, Article, short tandem repeats, chromosome 21, Oncology, Meiosis, childhood acute lymphoblastic leukemia, medicine, Allele, Homologous recombination, Chromosome 21, Trisomy, Childhood Acute Lymphoblastic Leukemia, RC254-282

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a3b063802176cc65b1df1f4a98ad0a8c
https://pubmed.ncbi.nlm.nih.gov/34572826

المؤلفون: Milen Minkov (10020965), Petra Zeitlhofer (10020968), Andreas Zoubek (10020971), Leo Kager (275364), Simon Panzer (711296), Oskar A. Haas (10020974)

مصطلحات موضوعية: Foetal Development and Medicine, Obstetrics and Gynaecology, Paediatrics, Paediatrics and Reproductive Medicine not elsewhere classified, thrombocytopenia, inherited, platelet disorders, children, Bernard-Soulier syndrome

Relation: https://figshare.com/articles/dataset/Table_1_Novel_Compound_Heterozygous_Mutations_in_Two_Families_With_Bernard_Soulier_Syndrome_DOCX/13626404

الاتاحة: https://doi.org/10.3389/fped.2020.589812.s002

المؤلفون: Milen Minkov (10020965), Petra Zeitlhofer (10020968), Andreas Zoubek (10020971), Leo Kager (275364), Simon Panzer (711296), Oskar A. Haas (10020974)

مصطلحات موضوعية: Foetal Development and Medicine, Obstetrics and Gynaecology, Paediatrics, Paediatrics and Reproductive Medicine not elsewhere classified, thrombocytopenia, inherited, platelet disorders, children, Bernard-Soulier syndrome

Relation: https://figshare.com/articles/figure/Image_1_Novel_Compound_Heterozygous_Mutations_in_Two_Families_With_Bernard_Soulier_Syndrome_TIF/13626401

الاتاحة: https://doi.org/10.3389/fped.2020.589812.s001

المؤلفون: Petra Zeitlhofer, Jasmin Dmytrus, Ana Krolo, Michael Dworzak, Georg Mann, Raul Jimenez Heredia, Wolfgang Holter, Kaan Boztug, Heiko Muller, Christoph Bock, Oskar A. Haas, Leo Kager, Tatjana Hirschmugl

المصدر: British Journal of Haematology

مصطلحات موضوعية: 0301 basic medicine, Male, Candidate gene, Adolescent, Genetic counseling, DNA Mutational Analysis, Short Report, Computational biology, Disease, DNA sequencing, 03 medical and health sciences, symbols.namesake, Young Adult, Medicine, Humans, genetic disorders, Genetic Testing, Child, Exome sequencing, paediatric haematology, Sanger sequencing, business.industry, Infant, Paediatrics, Hematology, Phenotype, Hematologic Diseases, 3. Good health, Pedigree, 030104 developmental biology, Targeted Mutation, Genes, Child, Preschool, Mutation, symbols, Female, business, immunodeficiency, clinical haematology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e4cfeaa7dc852602a68182bc0ec2cfc
https://pubmed.ncbi.nlm.nih.gov/29797310

المؤلفون: Oskar A. Haas, Franz Ratzinger, Astrid Dossenbach‐Glaninger, Milen Minkov, Bernhard Fahrner, Kaan Boztug, Leo Kager, Petra Zeitlhofer

المصدر: Pediatric Blood & Cancer. 63:914-916

مصطلحات موضوعية: Genetics, Hemolytic anemia, Promoter, Hematology, Biology, medicine.disease, Compound heterozygosity, Molecular biology, Asymptomatic, 03 medical and health sciences, Exon, 0302 clinical medicine, Oncology, 030220 oncology & carcinogenesis, Pediatrics, Perinatology and Child Health, medicine, Missense mutation, medicine.symptom, Gene, Pyruvate kinase, 030215 immunology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::05118017d84e493752b9cd2ba03891f5
https://doi.org/10.1002/pbc.25878

المؤلفون: Leo, Kager, Lesley J, Bruce, Petra, Zeitlhofer, Joanna F, Flatt, Tabita M, Maia, M Leticia, Ribeiro, Bernhard, Fahrner, Gerhard, Fritsch, Kaan, Boztug, Oskar A, Haas

المصدر: Pediatric bloodcancer. 64(3)

مصطلحات موضوعية: Male, Anemia, Hemolytic, Codon, Nonsense, Anion Exchange Protein 1, Erythrocyte, Child, Preschool, Homozygote, Erythrocytes, Abnormal, Humans, Erythropoiesis, Acidosis, Renal Tubular, Prognosis

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::a1130c3351ed2ee108359cf090431d55
https://pubmed.ncbi.nlm.nih.gov/27718309

المؤلفون: Olaf Bodamer, Andreas Heitger, Chike B. Item, Markus G. Seidel, Edith Schober, Petra Zeitlhofer, Oskar A. Haas, Birgit Rami, Wolf Dietrich Huber

المصدر: European Journal of Endocrinology. 167:131-134

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, chemical and pharmacologic phenomena, Biology, medicine.disease_cause, Treg cell, Autoimmune Diseases, Autoimmunity, Endocrinology, X Chromosome Inactivation, Internal medicine, medicine, Genetic predisposition, Humans, CTLA-4 Antigen, Genetic Predisposition to Disease, Enteropathy, Skewed X-inactivation, Autoimmune disease, Genetics, FOXP3, Forkhead Transcription Factors, Genetic Diseases, X-Linked, General Medicine, Immune dysregulation, medicine.disease, Pedigree, Mutation, Immunology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3398e9ba1ebc057c196214613ae52259
https://doi.org/10.1530/eje-12-0197

المؤلفون: Leo, Kager, Milen, Minkov, Petra, Zeitlhofer, Bernhard, Fahrner, Franz, Ratzinger, Kaan, Boztug, Astrid, Dossenbach-Glaninger, Oskar A, Haas

المصدر: Pediatric bloodcancer. 63(5)

مصطلحات موضوعية: Male, Anemia, Hemolytic, Base Sequence, Pyruvate Kinase, Mutation, Missense, Transfusion Reaction, Anemia, Hemolytic, Congenital Nonspherocytic, Exons, Pyruvate Metabolism, Inborn Errors, Child, Preschool, Humans, Blood Transfusion, Female, Promoter Regions, Genetic, Sequence Deletion

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::e864b25699215f6cdf474b31b261a993
https://pubmed.ncbi.nlm.nih.gov/26836632

المؤلفون: Dávid Héja, Sabine Heitzeneder, Elisabeth Förster-Waldl, Anita Lawitschka, Markus G. Seidel, M Hölzl, Petra Zeitlhofer, Oskar A. Haas, E Nowak, Ulrike Pötschger, Andreas Heitger, Susanne Matthes-Martin

المصدر: Bone marrow transplantation. 50(8)

مصطلحات موضوعية: Male, Adolescent, medicine.medical_treatment, Graft vs Host Disease, chemical and pharmacologic phenomena, Hematopoietic stem cell transplantation, Mannose-Binding Lectin, Polymorphism, Single Nucleotide, Disease-Free Survival, immune system diseases, Medicine, Humans, Progenitor cell, Child, Mannan-binding lectin, Transplantation, biology, business.industry, Hematopoietic Stem Cell Transplantation, Lectin, Hematology, bacterial infections and mycoses, medicine.disease, Allografts, carbohydrates (lipids), Survival Rate, surgical procedures, operative, Graft-versus-host disease, Child, Preschool, Immunology, Acute Disease, biology.protein, Female, Stem cell, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6323b36e5c003f07236be57820448a74
https://pubmed.ncbi.nlm.nih.gov/25961768

المؤلفون: Petra Zeitlhofer, Roman Radl, Horst Koch, Reinhard Windhager, Andreas Leithner, Andreas Weinhaeusel, Alfred Beham, Oskar A. Haas

المصدر: Virchows Archiv. 446:438-441

مصطلحات موضوعية: Adult, medicine.medical_specialty, Pathology, Soft Tissue Neoplasms, Biology, X-inactivation, Pathology and Forensic Medicine, Diagnosis, Differential, Lesion, Dosage Compensation, Genetic, medicine, Humans, Molecular Biology, X chromosome, Aged, Cell Proliferation, Aged, 80 and over, Sarcoma, Anatomical pathology, Histology, Cell Biology, General Medicine, Myositis ossificans, DNA Methylation, Middle Aged, medicine.disease, Clone Cells, Myositis Ossificans, Polyclonal antibodies, biology.protein, Female, medicine.symptom, Trinucleotide repeat expansion

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5954257572eb555fedafd2aaa2c9a338
https://doi.org/10.1007/s00428-004-1169-z

المؤلفون: Lesley J. Bruce, Gerhard Fritsch, Bernhard Fahrner, Joanna F. Flatt, Petra Zeitlhofer, Kaan Boztug, M. Letícia Ribeiro, Oskar A. Haas, Tabita M. Maia, Leo Kager

المصدر: Pediatric Blood & Cancer. 64:e26227

مصطلحات موضوعية: medicine.medical_specialty, Pathology, Hematology, biology, business.industry, Nonsense mutation, medicine.disease, 03 medical and health sciences, Exon, 0302 clinical medicine, Oncology, Distal renal tubular acidosis, 030220 oncology & carcinogenesis, Internal medicine, Pediatrics, Perinatology and Child Health, Null phenotype, biology.protein, Medicine, Erythropoiesis, Severe hemolytic anemia, business, Band 3, 030215 immunology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::8a64dcc7f518f1d8aa331c7ab8ab2e78
https://doi.org/10.1002/pbc.26227

المؤلفون: Leo Kager, Christopher Diakos, Michael Dworzak, Oskar A. Haas, Petra Zeitlhofer, Herbert Pichler

المصدر: European journal of pediatrics. 171(11)

مصطلحات موضوعية: Genetic Markers, Male, Pediatrics, medicine.medical_specialty, Heterozygote, Anemia, Megaloblastic, Anemia, Hearing Loss, Sensorineural, Mutation, Missense, Compound heterozygosity, White People, Diabetes mellitus genetics, medicine, Thiamine transporter, Diabetes Mellitus, Humans, Ketoglutarate Dehydrogenase Complex, Megaloblastic anemia, Genetics, biology, business.industry, Membrane Transport Proteins, Thiamine Deficiency, medicine.disease, Pancytopenia, Austria, Child, Preschool, Pediatrics, Perinatology and Child Health, SLC19A2, biology.protein, Thiamine, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e29950699f987c2694d86bbf1fb22df
https://pubmed.ncbi.nlm.nih.gov/22576805

المؤلفون: Roswitha Pfragner, Petra Zeitlhofer, Karin Flicker, Bruno Niederle, Peter Ulz, Christian Scheuba, Annemarie Behmel, Wolfgang Buchinger, Oskar A. Haas, Michael R. Speicher, Harald Höger

المصدر: International journal of cancer. 131(2)

مصطلحات موضوعية: Cancer Research, endocrine system diseases, Transplantation, Heterologous, Mice, SCID, Biology, medicine.disease_cause, Genome, Proto-Oncogene Mas, Thyroid carcinoma, Mice, Immune system, Chromosome instability, Cell Line, Tumor, medicine, Animals, Humans, Thyroid Neoplasms, Chromosome Aberrations, Severe combined immunodeficiency, Comparative Genomic Hybridization, Proto-Oncogene Proteins c-ret, Chromosome Mapping, medicine.disease, Molecular biology, Carcinoma, Neuroendocrine, Oncology, Cell culture, Carcinoma, Medullary, Female, Carcinogenesis, Neoplasm Transplantation, Comparative genomic hybridization

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4cbda4c540344f8589684094ab6a37b4
https://pubmed.ncbi.nlm.nih.gov/22038905