نتائج البحث - "Colin A. Sieff"

المساهمون: Stem Cell Aging Leukemia and Lymphoma (SALL), Guided Treatment in Optimal Selected Cancer Patients (GUTS), Genetic Metabolic Disorders Research Unit, Westmead Hospital [Sydney]-Kids Research Institute, Architecture et Réactivité de l'ARN (ARN), Institut de biologie moléculaire et cellulaire (IBMC), Université de Strasbourg (UNISTRA)-Centre National de la Recherche Scientifique (CNRS)-Université de Strasbourg (UNISTRA)-Centre National de la Recherche Scientifique (CNRS)-Centre National de la Recherche Scientifique (CNRS), St Jude Children's Research Hospital, 849 Department of Human Genetics, Radboud University Medical Center [Nijmegen], Balamand University Medical School, Westmead Hospital [Sydney]

المصدر: Haematologica
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instname
Haematologica, 103(12), 2008-2015. FERRATA STORTI FOUNDATION
Haematologica, 103, 2008-2015
Haematologica, Ferrata Storti Foundation, 2018, 103 (12), pp.2008-2015. ⟨10.3324/haematol.2017.182659⟩
Haematologica, 103, 12, pp. 2008-2015

مصطلحات موضوعية: 0301 basic medicine, Anemia, [SDV]Life Sciences [q-bio], Anèmia, TRANSFER-RNA SYNTHETASE, Biology, 03 medical and health sciences, All institutes and research themes of the Radboud University Medical Center, Germline mutation, Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience [Radboudumc 7], Sideroblastic anemia, Mitochondrial myopathy, medicine, Missense mutation, HETEROGENEITY, Allele, MUTATION, Exome sequencing, ComputingMilieux_MISCELLANEOUS, Genetics, IDENTIFICATION, Cancer development and immune defence RIHS: Radboud Institute for Health Sciences [Radboudumc 2], Hematology, medicine.disease, Renal disorders RIMLS: Radboud Institute for Molecular Life Sciences [Radboudumc 11], 3. Good health, Fenotip, Cancer development and immune defence RIMLS: Radboud Institute for Molecular Life Sciences [Radboudumc 2], Mitochondrial diseases RIMLS: Radboud Institute for Molecular Life Sciences [Radboudumc 6], 030104 developmental biology, Lactic acidosis

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e33db39b676f24e3649b6850f1684f6a
https://doi.org/10.3324/haematol.2017.182659

6

L-leucine improves anemia and growth in patients with transfusion-dependent Diamond Blackfan anemia: Results from a multicenter pilot phase I/II study from the Diamond Blackfan Anemia Registry

المؤلفون: Jason E. Farrar, Anupama Narla, Kelly Walkovich, Helge Hartung, Grzegorz Nalepa, Adrianna Vlachos, Evangelia Atsidaftos, Jeffrey M. Lipton, Mohammad Lutfi Lababidi, Jonathan Bernstein, Ellen Muir, Zora R. Rogers, Thomas W. Loew, Waseem Alhushki, Colin A. Sieff, Bertil Glader, Barbara Gruner, Christine M. Knoll, Arun R Panigrahi

المصدر: Pediatr Blood Cancer

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Adolescent, Anemia, medicine.medical_treatment, Pilot Projects, Hematopoietic stem cell transplantation, Short stature, Gastroenterology, Article, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Leucine, Internal medicine, medicine, Humans, Blood Transfusion, Diamond–Blackfan anemia, Adverse effect, Child, Anemia, Diamond-Blackfan, business.industry, Hematology, Middle Aged, medicine.disease, Prognosis, Combined Modality Therapy, Hematologic Response, Clinical trial, Oncology, 030220 oncology & carcinogenesis, Child, Preschool, Pediatrics, Perinatology and Child Health, Erythropoiesis, Feasibility Studies, Female, medicine.symptom, business, 030215 immunology, Follow-Up Studies

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f35da0422ca685604b2d6c0cfaafb63
https://europepmc.org/articles/PMC8273758/

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Introduction to Acquired and Inherited Bone Marrow Failure

المؤلفون: Colin A. Sieff

المصدر: Hematology/Oncology Clinics of North America. 32:569-580

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3dbd9982111d4e6ff1914ecb633a5768
https://doi.org/10.1016/j.hoc.2018.04.008

View record from ScienceDirect

Full Text via ClinicalKey

8

The Genetic Landscape of Diamond-Blackfan Anemia

المؤلفون: Aaron Cheng, David J. Amor, Colin A. Sieff, Nour J. Abdulhay, Claudia Fiorini, David G. Nathan, Beryl B. Cummings, Bertil Glader, Leif S. Ludwig, Peter E. Newburger, Stacey Gabriel, Giulio Genovese, Anupama Narla, Daniel G. MacArthur, Shideh Kazerounian, Alan H. Beggs, Edyta Niewiadomska, Namrata Gupta, Elaine T. Lim, Ron Do, Adrianna Vlachos, Casie A. Genetti, Katherine R. Chao, Pierre-Emmanuel Gleizes, Jeffrey M. Verboon, Jeffrey M. Lipton, Hanna T. Gazda, Lydie Da Costa, Jacob C. Ulirsch, Andrei A. Korostelev, Robert E. Handsaker, Eric S. Lander, Daniel Yuan, Steven A. McCarroll, Michał Matysiak, Vijay G. Sankaran, Monkol Lek, Michael H. Guo, Eva Atsidaftos, Anne H. O’Donnell-Luria, Marie-Françoise O'Donohue, Nathalie Montel-Lehry

المساهمون: Broad Institute of MIT and Harvard (BROAD INSTITUTE), Harvard Medical School [Boston] (HMS)-Massachusetts Institute of Technology (MIT)-Massachusetts General Hospital [Boston], Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Harvard Medical School [Boston] (HMS), Duke University [Durham], Boston Children's Hospital, Laboratory of Human Genetics of Infectious Diseases, The Feinstein Institute for Medical Research, Laboratoire de biologie moléculaire eucaryote (LBME), Centre National de la Recherche Scientifique (CNRS)-Centre de Biologie Intégrative (CBI), Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Centre National de la Recherche Scientifique (CNRS)-Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Centre National de la Recherche Scientifique (CNRS), Murdoch Children's Research Institute (MCRI), Stanley Center for Psychiatric Research, Harvard Medical School [Boston] (HMS)-Massachusetts Institute of Technology (MIT)-Massachusetts General Hospital [Boston]-Harvard Medical School [Boston] (HMS)-Massachusetts Institute of Technology (MIT)-Massachusetts General Hospital [Boston], Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Massachusetts Institute of Technology (MIT), Department of Neuroscience, Uppsala University, AP-HP, Service d'Hématologie Biologique, Hôpital Robert-Debré, Broad Institute of MIT and Harvard, Massachusetts Institute of Technology. Department of Biology

المصدر: American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2018, 103 (6), pp.930-947. ⟨10.1016/j.ajhg.2018.10.027⟩
Prof. Lander via Courtney Crummett

مصطلحات موضوعية: Male, 0301 basic medicine, [SDV]Life Sciences [q-bio], Cohort Studies, Exon, 0302 clinical medicine, Exome, Diamond–Blackfan anemia, Child, Genetics (clinical), Exome sequencing, ComputingMilieux_MISCELLANEOUS, Anemia, Diamond-Blackfan, Genetics, 0303 health sciences, education.field_of_study, Exons, 3. Good health, Phenotype, Child, Preschool, 030220 oncology & carcinogenesis, Intercellular Signaling Peptides and Proteins, Female, Ribosomal Proteins, Adolescent, Sequence analysis, Population, Biology, Article, 03 medical and health sciences, Exome Sequencing, medicine, Humans, education, Gene, Genetic Association Studies, Loss function, 030304 developmental biology, Phenocopy, Sequence Analysis, RNA, Genetic heterogeneity, Correction, medicine.disease, Human genetics, 030104 developmental biology, Mutation, Ribosomes, Gene Deletion, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology