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Haematologica, ISSN 0390-6078, 12/2014, Volume 99, Issue 12, pp. 1792 - 1798
Journal Article
Annals of the New York Academy of Sciences, ISSN 0077-8923, 11/2005, Volume 1054, Issue 1, pp. 223 - 227
: There has been progress in the application of stem cell transplantation for treatment of an increasing number of severe congenital and acquired bone marrow... 
thalassemia | preimplantation HLA typing | stem cell transplantation | congenital bone marrow failures | preimplantation diagnosis | Stem cell transplantation | Preimplantation diagnosis | Thalassemia | Preimplantation HLA typing | Congenital bone marrow failures | DIAGNOSIS | MULTIDISCIPLINARY SCIENCES | DISORDERS | ANEMIA | HLA | EMBRYOS | Anemia, Diamond-Blackfan - embryology | Humans | Anemia, Diamond-Blackfan - surgery | Genetic Diseases, Inborn - genetics | Tandem Repeat Sequences | Blood Banks | HLA Antigens - genetics | Genetic Engineering - ethics | Anemia, Diamond-Blackfan - prevention & control | Thalassemia - genetics | Thalassemia - prevention & control | Siblings | Genetic Engineering - methods | Fetal Diseases - diagnosis | Genetic Diseases, Inborn - embryology | Ectodermal Dysplasia - embryology | Blastocyst | Ectodermal Dysplasia - diagnosis | Ectodermal Dysplasia - prevention & control | Anemia, Diamond-Blackfan - diagnosis | Thalassemia - embryology | Cord Blood Stem Cell Transplantation | Preimplantation Diagnosis - ethics | Ectodermal Dysplasia - surgery | Fertilization in Vitro | Embryo Transfer | Genetic Diseases, Inborn - prevention & control | Tissue and Organ Procurement - ethics | Tissue and Organ Procurement - methods | Thalassemia - surgery | Genetic Diseases, Inborn - surgery | Histocompatibility Testing - methods
Journal Article
Journal Article
Expert Review of Hematology, ISSN 1747-4086, 2014, Volume 7, Issue 3, pp. 359 - 372
Journal Article
British Journal of Haematology, ISSN 0007-1048, 11/2015, Volume 171, Issue 4, pp. 517 - 529
Summary Diamond–Blackfan anaemia (DBA) is a rare congenital disease causing severe anaemia and progressive bone marrow failure. The majority of patients carry... 
erythroid progenitor | Trp53 | Diamond‐Blackfan anaemia | erythroid differentiation | glucocorticoid therapy | Diamond-Blackfan anaemia | Erythroid progenitor | Erythroid differentiation | Glucocorticoid therapy | RNA | BONE-MARROW | SELF-RENEWAL | RECEPTOR | PROLIFERATION | FAILURE | DEFICIENCY | P53 | DIFFERENTIATION | HEMATOLOGY | RIBOSOMAL-PROTEIN S19 | Apoptosis - drug effects | Erythroid Precursor Cells - drug effects | Humans | bcl-2-Associated X Protein - biosynthesis | Erythropoiesis - drug effects | Male | Ribosomal Proteins - deficiency | Tumor Suppressor Protein p53 - physiology | Cyclin-Dependent Kinase Inhibitor p21 - genetics | Dexamethasone - pharmacology | Prednisolone - therapeutic use | Drug Evaluation, Preclinical | bcl-2-Associated X Protein - genetics | Disease Models, Animal | Cyclin-Dependent Kinase Inhibitor p21 - biosynthesis | Anemia, Diamond-Blackfan - blood | Ribosomal Proteins - genetics | Mice, Inbred C57BL | Cells, Cultured | Transcription Factors - biosynthesis | Radiation Chimera | Transcription Factors - genetics | Prednisolone - pharmacology | Up-Regulation - drug effects | Animals | Anemia, Diamond-Blackfan - drug therapy | Adolescent | Mice | RNA sequencing | Genetic disorders | Corticosteroids | Analysis | Tumor proteins | Gene expression | Steroids | Haematological Malignancy | Research Paper | Clinical Medicine | Hematologi | Medical and Health Sciences | Hematology | Klinisk medicin | Medicin och hälsovetenskap
Journal Article
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 08/2018, Volume 27, Issue 15, pp. 2628 - 2643
Abstract Ribosome biogenesis is a global process required for growth and proliferation in all cells, but disruptions in this process surprisingly lead to... 
ERYTHROPOIESIS FAILURE | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | DIAMOND-BLACKFAN ANEMIA | TREACHER-COLLINS-SYNDROME | CRANIOFACIAL DEVELOPMENT | RIBOSOMAL-PROTEIN L11 | NEURAL CREST | RNA-POLYMERASE I | TUMOR-SUPPRESSOR P53 | L-LEUCINE IMPROVES | TCOF1 GENE-PRODUCT
Journal Article
Journal Article