المؤلفون: Simon Berhe, Matthew M. Heeney, Dean R. Campagna, John F. Thompson, Eric J. White, Tristen Ross, Roy W. A. Peake, Jeffery D. Hanrahan, Vilmarie Rodriguez, Deborah L. Renaud, Mrinal S. Patnaik, Eugenia Chang, Sylvia S. Bottomley, Mark D. Fleming

المصدر: Haematologica, Vol 103, Iss 12 (2018)

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

وصف الملف: electronic resource

Relation: https://haematologica.org/article/view/8708; https://doaj.org/toc/0390-6078; https://doaj.org/toc/1592-8721

URL الوصول: https://doaj.org/article/56c46da1418146a388fbc5266ced1110

المؤلفون: Lisa G. Riley, Matthew M. Heeney, Joëlle Rudinger-Thirion, Magali Frugier, Dean R. Campagna, Ronghao Zhou, Gregory A. Hale, Lee M. Hilliard, Joel A. Kaplan, Janet L. Kwiatkowski, Colin A. Sieff, David P. Steensma, Alexander J. Rennings, Annet Simons, Nicolaas Schaap, Richard J. Roodenburg, Tjitske Kleefstra, Leonor Arenillas, Josep Fita-Torró, Rasha Ahmed, Miguel Abboud, Elie Bechara, Roula Farah, Rienk Y. J. Tamminga, Sylvia S. Bottomley, Mayka Sanchez, Gerwin Huls, Dorine W. Swinkels, John Christodoulou, Mark D. Fleming

المصدر: Haematologica, Vol 103, Iss 12 (2018)

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

وصف الملف: electronic resource

Relation: https://haematologica.org/article/view/8696; https://doaj.org/toc/0390-6078; https://doaj.org/toc/1592-8721

URL الوصول: https://doaj.org/article/70af1a9edca84727a4ddd156e06aba63

المؤلفون: Thomas B. Bartnikas, Andrea U. Steinbicker, Dean R. Campagna, Sherika Blevins, Lanette S. Woodward, Carolina Herrera, Kenneth D. Bloch, Monica J. Justice, Mark D. Fleming

المصدر: Haematologica, Vol 98, Iss 6 (2013)

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

وصف الملف: electronic resource

Relation: https://haematologica.org/article/view/6684; https://doaj.org/toc/0390-6078; https://doaj.org/toc/1592-8721

URL الوصول: https://doaj.org/article/096a6cffdae6464b8c2642e2a376a2d1

المؤلفون: David R. Williams, Aleksej Perlov, Christopher D. Bahl, Jonathan Fogel, Benjamin L. Ebert, Timothy A. Springer, Klaus Schmitz-Abe, Ellen M. Beauchamp, Katelyn Gagne, Liang Sun, Raffaele Renella, Dean R. Campagna, Inga Hofmann, Akiko Shimamura, Mireia Sola, Shira Rockowitz, Suneet Agarwal, Thorsten M. Schlaeger, Mark D. Fleming, Kristi Murphy, Piotr Sliz, Kyriacos Markianos

المصدر: Am J Hematol

مصطلحات موضوعية: Male, Neutropenia, Myeloid, Somatic cell, Biology, medicine.disease_cause, Article, Germline, Cell Line, Germline mutation, medicine, Humans, Progenitor cell, Induced pluripotent stem cell, Cells, Cultured, Germ-Line Mutation, Mutation, Infant, Newborn, Genetic Diseases, X-Linked, Hematology, Tetraploidy, medicine.anatomical_structure, Myelodysplastic Syndromes, Cancer research, Bone marrow, Septins

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::41577978ab298b7dc06021cafd351f7c
https://doi.org/10.1002/ajh.26382

المؤلفون: Gordon J. Hildick-Smith, Nicholas C. Huston, Paul J. Schmidt, Daniel A. Lichtenstein, Anoop K. Sendamarai, Chang Cao, Caiyong Chen, Andrew Crispin, Dean R. Campagna, Mark D. Fleming, Matthew M. Heeney, Sylvia S. Bottomley, Barry H. Paw, Sarah Ducamp, Jeanne Boudreaux, Chaoshe Guo

المصدر: J Clin Invest

مصطلحات موضوعية: Iron-Sulfur Proteins, Male, 0301 basic medicine, Adolescent, DNA Mutational Analysis, Mitochondrion, Biology, Polymorphism, Single Nucleotide, Frameshift mutation, Mice, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Heat shock protein, Animals, Humans, Child, Frameshift Mutation, Promoter Regions, Genetic, Gene, Zebrafish, HSPA9, Mice, Knockout, General Medicine, Anemia, Sideroblastic, Pedigree, Cell biology, 030104 developmental biology, GLRX5, Gene Knockdown Techniques, 030220 oncology & carcinogenesis, Mutation, Erythropoiesis, Female, K562 Cells, Biogenesis, Molecular Chaperones, Research Article

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b79c4d2d6b6824942dd755579f8ba0a
https://doi.org/10.1172/jci135479

المؤلفون: Dean R. Campagna, Jamie Oakley, Gary Woods, Shira Rockowitz, Piotr Sliz, Liang Sun, Jeanne Boudreaux, Mark D. Fleming

المصدر: Pediatric Blood & Cancer. 69

مصطلحات موضوعية: Genetics, business.industry, RNA Splicing, Genetic Diseases, X-Linked, Hematology, ALAS2, Anemia, Sideroblastic, X-linked sideroblastic anemia, Oncology, Mutation, Pediatrics, Perinatology and Child Health, RNA splicing, Humans, Medicine, business, 5-Aminolevulinate Synthetase, Coding (social sciences)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::69e5ebd31686e26e66f0c1b41c27e531
https://doi.org/10.1002/pbc.29309

المؤلفون: Conrad V. Fernandez, Jacquelyn M. Powers, Hoda Hassab, Kathryn E. Dickerson, Sioban B. Keel, Juliana Teo, Bertil Glader, Akiko Shimamura, Ayami Yoshimi, Michael Briones, Mark D. Fleming, Afshin Ameri, Mayada Abu Shanap, Simon Berhe, Roula Farah, Sylvia S. Bottomley, Joseph H. Antin, Peter J. Shaw, Henrik Hasle, Matthew M. Heeney, Peter Kurre, Dean R. Campagna, Jeanne Boudreaux, Melissa J. Rose, Joseph H. Oved, Sanjay Shah, Timothy S. Olson

المصدر: Hum Mutat
Heeney, M M, Berhe, S, Campagna, D R, Oved, J H, Kurre, P, Shaw, P J, Teo, J, Shanap, M A, Hassab, H M, Glader, B E, Shah, S, Yoshimi, A, Ameri, A, Antin, J H, Boudreaux, J, Briones, M, Dickerson, K E, Fernandez, C V, Farah, R, Hasle, H, Keel, S B, Olson, T S, Powers, J M, Rose, M J, Shimamura, A, Bottomley, S S & Fleming, M D 2021, ' SLC25A38 congenital sideroblastic anemia : Phenotypes and genotypes of 31 individuals from 24 families, including 11 novel mutations, and a review of the literature ', Human Mutation, vol. 42, no. 11, pp. 1367-1383 . https://doi.org/10.1002/humu.24267

مصطلحات موضوعية: Male, Genotype, Disease, Mitochondrion, Biology, Mitochondrial Membrane Transport Proteins, Anemia, Sideroblastic/congenital, Article, iron, Sideroblastic anemia, Genetics, medicine, Missense mutation, Humans, genetics, Allele, Genetics (clinical), sideroblastic anemia, Infant, Newborn, Infant, medicine.disease, Phenotype, Anemia, Sideroblastic, Transmembrane domain, Child, Preschool, hematopoietic stem cell transplantation, Mutation, Mitochondrial Membrane Transport Proteins/genetics, Erythropoiesis, Female, erythropoiesis

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2735a3c2b2878b93a3d4284452710572
https://pubmed.ncbi.nlm.nih.gov/34298585

المؤلفون: Lee Hilliard, Joëlle Rudinger-Thirion, Alexander J. Rennings, Magali Frugier, Richard J. Roodenburg, Lisa G. Riley, Leonor Arenillas, David P. Steensma, Josep Fita-Torró, Elie Bechara, Mark D. Fleming, Sylvia S. Bottomley, Gregory A. Hale, Janet L. Kwiatkowski, Rienk Y. J. Tamminga, Ronghao Zhou, Dean R. Campagna, Joel Kaplan, Miguel R. Abboud, Matthew M. Heeney, Colin A. Sieff, Nicolaas Schaap, Rasha Ahmed, John Christodoulou, Dorine W. Swinkels, Gerwin Huls, Mayka Sanchez, Tjitske Kleefstra, Roula Farah, Annet Simons

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

المؤلفون: Dean R. Campagna, Sarah Ducamp, Paul J. Schmidt, Mark D. Fleming

المصدر: Blood. 138:925-925

مصطلحات موضوعية: Chemistry, Gene knockin, Immunology, medicine, Cell Biology, Hematology, Pyridoxine, Biochemistry, Molecular biology, ALAS2, medicine.drug, X-linked sideroblastic anemia

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::849174412b9f55c4b9f5bb7730f2de56
https://doi.org/10.1182/blood-2021-150683

المؤلفون: David Ahern, Uzi Gileadi, Andrew E. Armitage, Vincenzo Cerundolo, Dean R. Campagna, Nicole U. Stoffel, Mariolina Salio, Tiago L. Duarte, Simon C. Andrews, S K Wideman, Marie Lewis, C Naylor, Simon J. Draper, B Kronsteiner, Joe N. Frost, van der Klis Frm., José Manuel Lopes, M Bonadonna, Susanna Dunachie, Oliver Bannard, Munawar Abbas, João Arezes, Michael B. Zimmermann, Akshay Shah, G Smits, Pei Jin Lim, Mark D. Fleming, Hal Drakesmith, A E Preston, Bruno Galy, Tiong Kit Tan, Katherine Wray, M Teh, Townsend Arm.

المصدر: Med (New York, N.y.)
Med, 2 (2)

مصطلحات موضوعية: Swine, animal diseases, Iron, immunometabolism, global health, virus, influenza virus, Mice, Immune system, Hepcidins, Immunity, Hepcidin, Genetic model, medicine, Animals, Humans, Mice, Knockout, medicine.diagnostic_test, biology, business.industry, T-cells, Vaccination, adaptive immunity, Iron Deficiencies, General Medicine, Iron deficiency, biochemical phenomena, metabolism, and nutrition, Acquired immune system, medicine.disease, Iron Metabolism Disorders, infection, Immunity, Humoral, Mice, Inbred C57BL, Immunology, Humoral immunity, hypoferremia, Serum iron, biology.protein, Clinical and Translational Article, hepcidin, influenza, business, iron, vaccination

وصف الملف: application/application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ee6218618c4ece5c86d45e69e66aa2d
https://doi.org/10.1016/j.medj.2020.10.004