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1دورية أكاديمية
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
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2دورية أكاديمية
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
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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
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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.24267مصطلحات 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
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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. 2008-2015مصطلحات 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 -
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المؤلفون: Sanjay Shah, Min Hee Kim, Sylvia S. Bottomley, Niketa Shah
المصدر: Clinical Case Reports
مصطلحات موضوعية: sideroblastic anemia, business.industry, medicine.medical_treatment, Case Report, Case Reports, General Medicine, Hematopoietic stem cell transplantation, medicine.disease, Conditioning regimen, 03 medical and health sciences, 0302 clinical medicine, Sideroblastic anemia, Reduced toxicity, 030220 oncology & carcinogenesis, hematopoietic stem cell transplantation, Immunology, Transfusion dependence, SLC25A38, Medicine, business, Congenital sideroblastic anemia, 030215 immunology
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المؤلفون: Sylvia S. Bottomley, Klaus Schmitz-Abe, Andrew Crispin, Paul J. Schmidt, Kyriacos Markianos, Anoop K. Sendamarai, Martin D. Kafina, John B. Porter, Matthew M. Heeney, Daniel A. Lichtenstein, Barry H. Paw, Cristovão M. Sousa, Alison May, Dean R. Campagna, Mrinal M. Patnaik, Charlotte M. Niemeyer, Alec C. Kimmelman, Mark D. Fleming
المصدر: Blood. 128:1913-1917
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, NDUFB11, Pediatrics, medicine.medical_specialty, Adolescent, Mitochondrial translation, Anemia, Immunology, Respiratory chain, medicine.disease_cause, Biochemistry, 03 medical and health sciences, hemic and lymphatic diseases, medicine, Humans, Allele, Child, X chromosome, Aged, Sequence Deletion, Chromosomes, Human, X, Mutation, Electron Transport Complex I, Base Sequence, business.industry, Genetic Diseases, X-Linked, Cell Biology, Hematology, Middle Aged, medicine.disease, Molecular biology, Anemia, Sideroblastic, 030104 developmental biology, Mitochondrial respiratory chain, Child, Preschool, Female, K562 Cells, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c8aa2d0391fb69208a3993b684e7683b
https://doi.org/10.1182/blood-2016-05-719062 -
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المؤلفون: Deborah L. Renaud, Eugenia Chang, Roy W A Peake, Vilmarie Rodriguez, Dean R. Campagna, Mark D. Fleming, John F. Thompson, Simon Berhe, Matthew M. Heeney, Eric J. White, Jeffery D. Hanrahan, Mrinal S. Patnaik, Sylvia S. Bottomley, Tristen Ross
المصدر: Haematologica. 103:e561-e563
مصطلحات موضوعية: Male, 0301 basic medicine, medicine.medical_specialty, Adolescent, Anemia, DNA Mutational Analysis, Mutation, Missense, DNA, Mitochondrial, Gastroenterology, 03 medical and health sciences, Recurrence, Internal medicine, Humans, Point Mutation, Medicine, Missense mutation, Clinical severity, In patient, Child, Online Only Articles, Genetic Association Studies, biology, business.industry, Point mutation, Infant, Genetic Diseases, X-Linked, Syndrome, Hematology, Mitochondrial Proton-Translocating ATPases, medicine.disease, Heteroplasmy, Anemia, Sideroblastic, 030104 developmental biology, Mutation (genetic algorithm), MT-ATP6, biology.protein, Female, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df51351b1f885469ad223650524c8520
https://doi.org/10.3324/haematol.2018.199109 -
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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
مصطلحات موضوعية: Male, Adolescent, Mutation, Missense, Infant, Genetic Diseases, X-Linked, Middle Aged, Article, Anemia, Sideroblastic, Mitochondrial Proteins, Young Adult, Tyrosine-tRNA Ligase, MELAS Syndrome, Humans, Acidosis, Lactic, Female, Red Cell Biology & its Disorders, Genetic Association Studies, Germ-Line Mutation
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::6a45e11c567c6f28ad3a0a7859fd7703
https://pubmed.ncbi.nlm.nih.gov/30026338 -
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المؤلفون: Philip Connor, Daniel H. Wiseman, Stephen M. Hughes, Martin Holcik, Laura Marques, Denise Bonney, Michael T. Geraghty, Ronald M. Laxer, Pranesh Chakraborty, Colin Powell, Alexis A. Thompson, Isabelle Thuret, Dean R. Campagna, Matthew M. Heeney, Turaya Naas, Alison May, Victoria Bordon, Caterina P. Minniti, Adam D. Rudner, Robert J. Klaassen, Patricia-Jane Giardina, Ashley Lau, Sylvia S. Bottomley, Robert Wynn, John Moppett, Klaus Schmitz-Abe, Kyriacos Markianos, Caroline Kannengiesser, Erin K. Kennedy, Mark D. Fleming, Hapsatou Mamady, Stephen Jolles, Danielle Durie, Paul B.M. Joyce, Anoop K. Sendamarai
المصدر: Blood. 124:2867-2871
مصطلحات موضوعية: Fever, Developmental Disabilities, Immunology, Biology, Mitochondrion, medicine.disease_cause, Biochemistry, Red Cells, Iron, and Erythropoiesis, Pleiotropy, medicine, Humans, Allele, Gene, Alleles, Immunodeficiency, Genetics, Mutation, Immunologic Deficiency Syndromes, Genetic Diseases, X-Linked, RNA Nucleotidyltransferases, Cell Biology, Hematology, medicine.disease, Phenotype, Anemia, Sideroblastic, HEK293 Cells, Biogenesis
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a2b532825ab1c08282e4d95d9980e67
https://doi.org/10.1182/blood-2014-08-591370