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1
المؤلفون: Maryam Hussain, Maria Florento, Pooja Desai, Jeffrey M. Lipton, Adrianna Vlachos, Christine Louise Sardo Molmenti, Eva Atsidaftos
المصدر: Pediatric bloodcancerREFERENCES. 68(8)
مصطلحات موضوعية: Oncology, Ribosomal Proteins, medicine.medical_specialty, Colorectal cancer, Bone Neoplasms, 03 medical and health sciences, 0302 clinical medicine, hemic and lymphatic diseases, Internal medicine, Cancer screening, medicine, Humans, Cumulative incidence, Registries, Diamond–Blackfan anemia, Early Detection of Cancer, Anemia, Diamond-Blackfan, business.industry, Cancer, Hematology, Middle Aged, medicine.disease, Penetrance, 030220 oncology & carcinogenesis, Relative risk, Pediatrics, Perinatology and Child Health, Mutation, Sarcoma, Disease Susceptibility, business, Colorectal Neoplasms, 030215 immunology
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2
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 Crummettمصطلحات 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
وصف الملف: application/octet-stream; application/pdf
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3
المؤلفون: Nancy E. Seidel, Kelly A. O'Brien, Irma Dianzani, Sara Parrella, Eva Atsidaftos, David M. Bodine, Adrianna Henson, Shahla Bari, Ross Fisher, Emanuela Garelli, Jeffrey M. Lipton, Anna Aspesi, Robert J. Arceci, Supraja Prakash, Paola Quarello, Adrianna Vlachos, Ugo Ramenghi, Steven R. Ellis, Jason E. Farrar
المصدر: American Journal of Hematology. 89:985-991
مصطلحات موضوعية: Genetics, Anemia, Eukaryotic Large Ribosomal Subunit, Hematology, Biology, Ribosomal RNA, medicine.disease, Bioinformatics, Ribosomal protein, medicine, Eukaryotic Small Ribosomal Subunit, Diamond–Blackfan anemia, RRNA processing, Gene
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4Diminutive somatic deletions in the 5q region lead to a phenotype atypical of classical 5q− syndrome
المؤلفون: Eva Atsidaftos, Michael Landowski, Anupama Narla, Johnson M. Liu, Robert J. Arceci, Jeffrey M. Lipton, Thomas C. Markello, Sharon A. Singh, Adrianna Vlachos, Ellen Muir, Steven R. Ellis, Hanna T. Gazda, Lionel Blanc, David M. Bodine, Jason E. Farrar, Benjamin L. Ebert
المصدر: Blood. 122:2487-2490
مصطلحات موضوعية: Ribosomal Proteins, congenital, hereditary, and neonatal diseases and abnormalities, Pathology, medicine.medical_specialty, Adolescent, Genotype, Anemia, Immunology, Biology, Real-Time Polymerase Chain Reaction, Polymorphism, Single Nucleotide, Biochemistry, Red Cells, Iron, and Erythropoiesis, hemic and lymphatic diseases, parasitic diseases, medicine, Humans, Immunologic Factors, Anemia, Macrocytic, Diamond–Blackfan anemia, Lenalidomide, Anemia, Diamond-Blackfan, Genetics, medicine.diagnostic_test, Cytogenetics, Cell Biology, Hematology, medicine.disease, Phenotype, Thalidomide, body regions, Child, Preschool, Cytogenetic Analysis, Chromosomes, Human, Pair 5, Female, Macrocytic anemia, Chromosome Deletion, Haploinsufficiency, Fluorescence in situ hybridization
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5
المؤلفون: Christopher Buros, Roxanne Ghazvinian, Marie-Françoise O'Donohue, Bertil Glader, Colin A. Sieff, Michał Matysiak, Michael Landowski, Hanna T. Gazda, Jeffrey M. Lipton, Alan H. Beggs, Edyta Niewiadomska, Eva Atsidaftos, Adrianna Vlachos, Peter E. Newburger, Pierre-Emmanuel Gleizes, Nathalie Montel-Lehry
المساهمون: Division of Genetics and Program in Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, The Feinstein Institute for Medical Research, Laboratory of Human Genetics of Infectious Diseases, Laboratoire de biologie moléculaire eucaryote (LBME), Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Centre National de la Recherche Scientifique (CNRS)-Centre de Biologie Intégrative (CBI), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Centre National de la Recherche Scientifique (CNRS)-Centre National de la Recherche Scientifique (CNRS)
المصدر: Human Genetics
Human Genetics, Springer Verlag, 2013, 132 (11), pp.1265-1274. ⟨10.1007/s00439-013-1326-z⟩مصطلحات موضوعية: Ribosomal Proteins, DNA Copy Number Variations, Anemia, [SDV]Life Sciences [q-bio], Biology, Article, 03 medical and health sciences, 0302 clinical medicine, Genetics, medicine, Humans, Reticulocytopenia, RNA, Small Interfering, Diamond–Blackfan anemia, Gene, ComputingMilieux_MISCELLANEOUS, Genetics (clinical), Anemia, Diamond-Blackfan, 030304 developmental biology, Comparative Genomic Hybridization, 0303 health sciences, Point mutation, GATA1, medicine.disease, Molecular biology, 3. Good health, RNA, Ribosomal, Gene Knockdown Techniques, 030220 oncology & carcinogenesis, Mutation, Macrocytic anemia, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, Gene Deletion, HeLa Cells, Comparative genomic hybridization
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6
المؤلفون: Kelly A. O'Brien, Crystiana A. Tsujiura, David M. Bodine, Adrianna Vlachos, Abdel G. Elkahloun, Xiuli An, Lionel Blanc, Eva Atsidaftos, Steven R. Ellis, Jens Lichtenberg, Jason E. Farrar, Jeffrey M. Lipton, Stacie M. Anderson
المصدر: Blood. 129(23)
مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Ribosomal Proteins, Adolescent, Cellular differentiation, Immunology, CD34, Biology, Biochemistry, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Erythroid Cells, Genes, X-Linked, hemic and lymphatic diseases, medicine, Humans, Erythropoiesis, GATA1 Transcription Factor, Progenitor cell, Diamond–Blackfan anemia, Response to Letter, Child, Cells, Cultured, Anemia, Diamond-Blackfan, Cell Proliferation, Genes, Dominant, Models, Genetic, Bone marrow failure, GATA1, Cell Differentiation, Cell Biology, Hematology, medicine.disease, Molecular biology, Haematopoiesis, 030104 developmental biology, 030220 oncology & carcinogenesis, Case-Control Studies, Child, Preschool, Mutation, Female, Transcriptome
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7
المؤلفون: Leana Doherty, Adrianna Vlachos, Eva Atsidaftos, Antonis Kattamis, Stella M. Davies, Michał Matysiak, Christopher Buros, Alan H. Beggs, Edyta Niewiadomska, Colin A. Sieff, Jeffrrey M. Lipton, Milena Preti, Michael Landowski, Marie-Françoise O'Donohue, Roxanne Ghazvinian, Pierre-Emmanuel Gleizes, Mee Rie Sheen, Hanna T. Gazda, Bertil Glader, Peter E. Newburger
المساهمون: Laboratoire de biologie moléculaire eucaryote (LBME), Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Centre National de la Recherche Scientifique (CNRS)-Centre de Biologie Intégrative (CBI), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Centre National de la Recherche Scientifique (CNRS)-Centre National de la Recherche Scientifique (CNRS), Division of Genetics and Program in Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, The Feinstein Institute for Medical Research, First department of Pediatrics, University of Athens School of Medicine, Laboratory of Human Genetics of Infectious Diseases, Cohen Children's Medical Center of New York, Hofstra University School of Medicine, Hofstra University [Hempstead], First Department of Paediatrics, Athens University, Thalassaemia Unit, 'Aghia Sofia' Children's Hospital
المصدر: Human Mutation
Human Mutation, Wiley, 2012, 33 (7), pp.1037-1044. ⟨10.1002/humu.22081⟩
Human Mutation, Wiley, 2012, epub ahead of print. ⟨10.1002/humu.22081⟩مصطلحات موضوعية: Ribosomal Proteins, Proband, Ribosomopathy, Ribosomal Protein L3, [SDV]Life Sciences [q-bio], Blotting, Western, Pure red cell aplasia, Biology, medicine.disease_cause, Article, Frameshift mutation, 03 medical and health sciences, 0302 clinical medicine, Ribosomal protein, Genetics, medicine, Humans, Missense mutation, Abnormalities, Multiple, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology, RNA, Small Interfering, Diamond–Blackfan anemia, Frameshift Mutation, ComputingMilieux_MISCELLANEOUS, Genetics (clinical), Anemia, Diamond-Blackfan, 030304 developmental biology, 0303 health sciences, Mutation, Blotting, Northern, medicine.disease, Molecular biology, 3. Good health, RNA, Ribosomal, 030220 oncology & carcinogenesis, Tumor Suppressor Protein p53, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, HeLa Cells
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8
المؤلفون: Adrianna Vlachos, Thomas C. Markello, Steven R. Ellis, Hannah Carlson-Donohoe, Jeffrey M. Lipton, David M. Bodine, Eva Atsidaftos, Robert J. Arceci, Jason E. Farrar
المصدر: Blood. 118:6943-6951
مصطلحات موضوعية: Male, Ribosomal Proteins, Genotyping Techniques, Immunology, Single-nucleotide polymorphism, Genome-wide association study, Haploinsufficiency, Biology, Polymorphism, Single Nucleotide, Biochemistry, Ribosome, Red Cells, Iron, and Erythropoiesis, Ribosomal protein, medicine, Humans, Diamond–Blackfan anemia, Gene, Anemia, Diamond-Blackfan, Oligonucleotide Array Sequence Analysis, Genetics, Reverse Transcriptase Polymerase Chain Reaction, Gene Expression Profiling, Infant, Newborn, Infant, Cell Biology, Hematology, Ribosomal RNA, Blotting, Northern, medicine.disease, Molecular biology, Child, Preschool, Female, Gene Deletion, Genome-Wide Association Study
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9
المؤلفون: Valérie Choesmel, Jason E. Farrar, Peter E. Newburger, Bertil Glader, Marie-Françoise O'Donohue, Hanna T. Gazda, Catherine Clinton, Sarah E. Ball, Eva Atsidaftos, Michał Matysiak, Mee Rie Sheen, Leana Doherty, Edyta Niewiadomska, Hal E. Schneider, Robert J. Arceci, Adrianna Vlachos, Colin A. Sieff, Jeffrey M. Lipton, Pierre-Emmanuel Gleizes
المساهمون: Division of Genetics and Program in Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, The Feinstein Institute for Medical Research, Laboratoire de biologie moléculaire eucaryote (LBME), Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Centre National de la Recherche Scientifique (CNRS)-Centre de Biologie Intégrative (CBI), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Centre National de la Recherche Scientifique (CNRS)-Centre National de la Recherche Scientifique (CNRS), Laboratory of Human Genetics of Infectious Diseases, Birmingham Children's Hospital, Cohen Children's Medical Center of New York, Hofstra University School of Medicine, Hofstra University [Hempstead]
المصدر: American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2010, 86 (2), pp.222-228. ⟨10.1016/j.ajhg.2009.12.015⟩
American Journal of Human Genetics, Elsevier (Cell Press), 2010, 86 (2), pp.222-8. ⟨10.1016/j.ajhg.2009.12.015⟩مصطلحات موضوعية: Ribosomal Proteins, MESH: RNA Processing, Post-Transcriptional, MESH: Mutation, Anemia, Ribosomopathy, [SDV]Life Sciences [q-bio], Population, Biology, MESH: Base Sequence, medicine.disease_cause, 03 medical and health sciences, 0302 clinical medicine, MESH: Anemia, Diamond-Blackfan, Ribosomal protein genes, Ribosomal protein, Report, medicine, Genetics, Humans, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology, Genetics(clinical), Diamond–Blackfan anemia, RNA Processing, Post-Transcriptional, education, RRNA processing, Genetics (clinical), ComputingMilieux_MISCELLANEOUS, 030304 developmental biology, Anemia, Diamond-Blackfan, 0303 health sciences, Mutation, education.field_of_study, MESH: Humans, Base Sequence, 030305 genetics & heredity, medicine.disease, MESH: Ribosomal Proteins, Molecular biology, Phenotype, 3. Good health, 030220 oncology & carcinogenesis, Erratum, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
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10
المؤلفون: Steven R. Ellis, Alan H. Beggs, Edyta Niewiadomska, Robert J. Arceci, Colin A. Sieff, Agnieszka Grabowska, Jeanne Kowalski, Michael A. McDevitt, Jeffrey M. Lipton, C. Conover Talbot, Michelle Nater, Sarah E. Ball, Diane Esposito, Emi Caywood, Clifford M. Takemoto, Adrianna Vlachos, Hal E. Schneider, Paul S. Meltzer, Eva Atsidaftos, Jason E. Farrar, Hanna T. Gazda
المصدر: Blood. 112:1582-1592
مصطلحات موضوعية: Male, Ribosomal Proteins, Ribosomopathy, Molecular Sequence Data, Immunology, Apoptosis, Biology, Biochemistry, Ribosome, Cell Line, Cohort Studies, Ribosomal protein S19, Large ribosomal subunit, medicine, Humans, Amino Acid Sequence, RNA Processing, Post-Transcriptional, RNA, Small Interfering, Diamond–Blackfan anemia, Anemia, Diamond-Blackfan, Cell Proliferation, Oligonucleotide Array Sequence Analysis, Genetics, Base Sequence, Eukaryotic Large Ribosomal Subunit, Chromosome Mapping, Infant, DNA, Cell Biology, Hematology, Ribosomal RNA, medicine.disease, Molecular biology, Pedigree, Case-Control Studies, Mutation, Female, Chromosomes, Human, Pair 3, Chromosome Deletion, Haploinsufficiency, Ribosomes
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11
المؤلفون: Charlotte M. Niemeyer, Agnieszka Grabowska, Carolyn Wong, Joerg J Meerpohl, Eva Atsidaftos, Bertil Glader, Elzbieta Latawiec, David G. Nathan, Jeffrey M. Lipton, Karen Backer, Alan H. Beggs, Edyta Niewiadomska, Lydie Da Costa, Lilia B. Merida-Long, Joachim Stahl, Karen A. Orfali, Adrianna Vlachos, Gil Tchernia, Colin A. Sieff, Gerhard Schratt, Hal E. Schneider, Sarah E. Ball, Hanna T. Gazda
المصدر: The American Journal of Human Genetics. 79:1110-1118
مصطلحات موضوعية: Male, Ribosomal Proteins, congenital, hereditary, and neonatal diseases and abnormalities, Genetic Linkage, Ribosomopathy, Molecular Sequence Data, Bone Marrow Cells, Biology, medicine.disease_cause, 03 medical and health sciences, 0302 clinical medicine, Reference Values, Ribosomal protein, Report, hemic and lymphatic diseases, Ribosomal protein S19, Genetics, medicine, Humans, Genetics(clinical), Diamond–Blackfan anemia, Gene, Cells, Cultured, Genetics (clinical), Anemia, Diamond-Blackfan, 030304 developmental biology, 0303 health sciences, Mutation, Base Sequence, Aplasia, Ribosomal RNA, medicine.disease, Molecular biology, Alternative Splicing, Gene Expression Regulation, Case-Control Studies, 030220 oncology & carcinogenesis, Female, Ribosomes
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12
المؤلفون: Jeffrey M. Lipton, Jessica Kang, Philip S. Rosenberg, Eva Atsidaftos, Blanche P. Alter, Adrianna Vlachos
المصدر: Blood. 128:333-333
مصطلحات موضوعية: Oncology, medicine.medical_specialty, Pathology, Colorectal cancer, medicine.medical_treatment, Immunology, Hematopoietic stem cell transplantation, Biochemistry, 03 medical and health sciences, 0302 clinical medicine, Breast cancer, hemic and lymphatic diseases, Internal medicine, medicine, Cumulative incidence, Gastrointestinal cancer, Diamond–Blackfan anemia, business.industry, Cancer, Cell Biology, Hematology, medicine.disease, 030220 oncology & carcinogenesis, Sarcoma, business, 030215 immunology
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13
المؤلفون: Brian M. Dulmovits, Jessica Kang, Eva Atsidaftos, Julien Papoin, Jeffrey M. Lipton, Lionel Blanc, Adrianna Vlachos
المصدر: Cancer Research. 76:2457-2457
مصطلحات موضوعية: Cancer Research, Pathology, medicine.medical_specialty, Cancer, Osteoblast, Biology, medicine.disease, Ascorbic acid, medicine.disease_cause, medicine.anatomical_structure, Oncology, medicine, Cancer research, Adenocarcinoma, Sarcoma, Diamond–Blackfan anemia, Carcinogenesis, Haploinsufficiency
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14
المؤلفون: Adrianna Vlachos, Eva Atsidaftos, Philip S. Rosenberg, Jeffrey M. Lipton, Blanche P. Alter
مصطلحات موضوعية: Male, Pathology, Clinical Trials and Observations, Hemoglobinuria, Paroxysmal, Comorbidity, Biochemistry, Gastroenterology, 0302 clinical medicine, Fanconi anemia, Risk Factors, hemic and lymphatic diseases, Neoplasms, Cumulative incidence, Registries, Diamond–Blackfan anemia, Child, Bone Marrow Diseases, Anemia, Diamond-Blackfan, Bone Marrow Transplantation, 0303 health sciences, Incidence, Anemia, Aplastic, Hematology, Middle Aged, Pancytopenia, 3. Good health, Leukemia, 030220 oncology & carcinogenesis, Child, Preschool, Female, Adult, medicine.medical_specialty, Adolescent, Anemia, Immunology, 03 medical and health sciences, Young Adult, Internal medicine, medicine, Humans, 030304 developmental biology, Aged, business.industry, Cancer, Infant, Cell Biology, Bone Marrow Failure Disorders, medicine.disease, business, Dyskeratosis congenita, Follow-Up Studies
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15Academic Journal
المؤلفون: Adrianna Vlachos, Sarah Ball, Niklas Dahl, Blanche P. Alter, Sujit Sheth, Joerg Meerpohl, Stefan Karlsson, Johnson M. Liu, Thierry Leblanc, Carole Paley, Elizabeth M. Kang, Eva Judmann Leder, Eva Atsidaftos, Akiko Shimamura, Monica Bessler, Bertil Glader, Jeffrey M. Lipton, RAMENGHI, Ugo
المساهمون: Adrianna Vlacho, Sarah Ball, Niklas Dahl, Blanche P Alter, Sujit Sheth, Ugo Ramenghi, Joerg Meerpohl, Stefan Karlsson, Johnson M Liu, Thierry Leblanc, Carole Paley, Elizabeth M Kang, Eva Judmann Leder, Eva Atsidafto, Akiko Shimamura, Monica Bessler, Bertil Glader, Jeffrey M Lipton
مصطلحات موضوعية: Diamond Blackfan syndrome
وصف الملف: STAMPA
Relation: info:eu-repo/semantics/altIdentifier/pmid/18671700; info:eu-repo/semantics/altIdentifier/wos/WOS:000258604200001; volume:142; issue:6; firstpage:859; lastpage:876; numberofpages:18; journal:BRITISH JOURNAL OF HAEMATOLOGY; http://hdl.handle.net/2318/45347; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-50049093522
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16
المؤلفون: Mutlu Kartal, Maud Simansour, Adrianna Vlachos, Ilenia Boria, Emanuela Garelli, Catherine Clinton, Irma Dianzani, Thierry Leblanc, Hanna T. Gazda, Niklas Dahl, Michael Landowski, Mee Rie Sheen, Ugo Ramenghi, Christopher Buros, Eva Atsidaftos, Alan H. Beggs, Anna Aspesi, Lori J. Dobson, Elisa Pavesi, Alexis Proust, Lydie Da Costa, Paola Quarello, Dagmar Pospisilova, Steven R. Ellis, Jeffrey M. Lipton, Joerg J Meerpohl, Daniela Ferrante, Anne-Sophie Fröjmark, Radek Cmejla
المساهمون: Dept. Medical Sciences, Università degli Studi del Piemonte Orientale - Amedeo Avogadro (UPO), Dept. of Pediatrics, Università degli studi di Torino (UNITO), Division of Genetics and Program in Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School [Boston] (HMS), Pediatric Hematology & Oncology, Dept. of Pediatric and Adolescent Medicine, VU University Medical Center [Amsterdam], AP-HP, Service d'Hématologie Biologique, Hôpital Robert-Debré, Hématopoïèse normale et pathologique, Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Gustave Roussy (IGR)-Université Paris-Sud - Paris 11 (UP11), Université Paris Diderot - Paris 7 (UPD7), Hematology Laboratory, Hôpital Bicêtre, Dept. of Genetics and Pathology, Section of Clinical Genetics, The Rudbeck laboratory, Uppsala University Children's Hospital, Palacky University Olomouc, Dept. of Cell Physiology, Institute of Hematology and Blood Transfusion, The Feinstein Institute for Medical Research, Cohen Children's Medical Center of New York, Hofstra University School of Medicine, Hofstra University [Hempstead], University of Louisville
المصدر: Human Mutation
Human Mutation, Wiley, 2010, 31 (12), pp.1269. ⟨10.1002/humu.21383⟩مصطلحات موضوعية: Ribosomal Proteins, Ribosomopathy, Pseudogene, Molecular Sequence Data, Mutagenesis (molecular biology technique), Biology, Article, 03 medical and health sciences, 0302 clinical medicine, Diamond Blackfan syndrome, mutation data base, Databases, Genetic, Genetics, medicine, Humans, Diamond–Blackfan anemia, Indel, Gene, Genetics (clinical), Genetic Association Studies, 030304 developmental biology, Anemia, Diamond-Blackfan, 0303 health sciences, Base Sequence, Life Sciences, medicine.disease, Penetrance, 3. Good health, Mutagenesis, 030220 oncology & carcinogenesis, Mutation (genetic algorithm), Mutation, Ribosomes
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17
المؤلفون: Adrianna, Vlachos, Sarah, Ball, Niklas, Dahl, Blanche P, Alter, Sujit, Sheth, Ugo, Ramenghi, Joerg, Meerpohl, Stefan, Karlsson, Johnson M, Liu, Thierry, Leblanc, Carole, Paley, Elizabeth M, Kang, Eva Judmann, Leder, Eva, Atsidaftos, Akiko, Shimamura, Monica, Bessler, Bertil, Glader, Jeffrey M, Lipton, Winfred, Wang
المصدر: British Journal of Haematology
مصطلحات موضوعية: Adult, medicine.medical_specialty, medicine.medical_treatment, MEDLINE, Reviews, cancer predisposition, Disease, Hematopoietic stem cell transplantation, Congenital Abnormalities, Diagnosis, Differential, 03 medical and health sciences, 0302 clinical medicine, Pregnancy, Neoplasms, medicine, Humans, genetics, Genetic Predisposition to Disease, Diamond–Blackfan anemia, Intensive care medicine, Child, Glucocorticoids, 030304 developmental biology, Anemia, Diamond-Blackfan, 0303 health sciences, treatment, business.industry, Diamond Blackfan syndrome, Pregnancy Complications, Hematologic, Bone marrow failure, Hematopoietic Stem Cell Transplantation, Hematology, medicine.disease, 3. Good health, Surgery, Natural history, Transplantation, Treatment Outcome, 030220 oncology & carcinogenesis, Diamond Blackfan anaemia, Female, bone marrow failure, business, Erythrocyte Transfusion
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18
المؤلفون: Kelly O'Brien, Adrianna Vlachos, Stacie M. Anderson, Crystiana Tsujiura, Lionel Blanc, Eva Atsidaftos, NIH Intramural Sequencing Center, Jason E. Farrar, Steven R Ellis, Jeffrey Michael Lipton, David M. Bodine
المصدر: Blood. 126:3605-3605
مصطلحات موضوعية: Leukocyte migration, Immunology, GATA1, Cell Biology, Hematology, Gene mutation, Biology, medicine.disease, Biochemistry, Molecular biology, Gene expression profiling, Transcriptome, Ribosomal protein, medicine, Diamond–Blackfan anemia, Gene
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19
المؤلفون: Israel Zyskind, Jeffrey M. Lipton, Adrianna Vlachos, Eva Atsidaftos
المصدر: Pediatric bloodcancer. 46(5)
مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Adolescent, Anemia, Ribosomopathy, Informed consent, hemic and lymphatic diseases, Epidemiology, medicine, Humans, Erythropoiesis, Registries, Diamond–Blackfan anemia, Anemia, Diamond-Blackfan, Molecular Epidemiology, business.industry, Medical record, Genetic disorder, Hematopoietic Stem Cell Transplantation, Hematology, Middle Aged, medicine.disease, Survival Rate, Treatment Outcome, Oncology, Child, Preschool, Pediatrics, Perinatology and Child Health, Female, business, Rare disease
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20
المؤلفون: Eva Atsidaftos, Andrea M Tufano, Diana S Osorio, Jeffrey M. Lipton, Cristina Sison, Adrianna Vlachos
المصدر: Blood. 124:4399-4399
مصطلحات موضوعية: Delayed puberty, Gynecology, medicine.medical_specialty, Pregnancy, education.field_of_study, Placental abruption, Obstetrics, business.industry, media_common.quotation_subject, Immunology, Population, Cell Biology, Hematology, medicine.disease, Biochemistry, Miscarriage, Menopause, medicine, Menarche, medicine.symptom, business, education, Menstrual cycle, media_common