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Proceedings of the National Academy of Sciences - PNAS, ISSN 1091-6490, 2013, Volume 110, Issue 36, pp. E3408 - E3416
Journal Article
Journal Article
Cell (Cambridge), ISSN 0092-8674, 2014, Volume 159, Issue 1, pp. 148 - 162
Journal Article
Journal Article
Biology of Blood and Marrow Transplantation, ISSN 1083-8791, 2017, Volume 23, Issue 9, pp. 1422 - 1428
Abstract Patients with inherited bone marrow failure syndromes (IBMFS) such as Fanconi anemia (FA), dyskeratosis congenita (DC), and Diamond Blackfan anemia... 
Hematology, Oncology and Palliative Medicine | Late effects | Dyskeratosis congenita | Pediatric allogeneic hematopoietic cell transplant | Fanconi anemia | Diamond Blackfan anemia | Inherited bone marrow failure syndromes | LONG-TERM SURVIVORS | Pediatric allogeneic | 4 DECADES | NATIONAL-CANCER-INSTITUTE | IMMUNOLOGY | BIALLELIC MUTATIONS | FANCONI-ANEMIA | CHILDREN | TRANSPLANTATION | hematopoietic cell transplant | INSTITUTE/PEDIATRIC BLOOD | DYSKERATOSIS-CONGENITA | DIAMOND-BLACKFAN ANEMIA | HEMATOLOGY | APLASTIC-ANEMIA | Bone Marrow Diseases - diagnosis | Humans | Anemia, Diamond-Blackfan - immunology | Hemoglobinuria, Paroxysmal - pathology | Anemia, Diamond-Blackfan - mortality | Dyskeratosis Congenita - mortality | Anemia, Aplastic - therapy | Fanconi Anemia - mortality | Transplantation, Homologous | Hemoglobinuria, Paroxysmal - immunology | Anemia, Aplastic - diagnosis | Bone Marrow Diseases - therapy | Dyskeratosis Congenita - diagnosis | Dyskeratosis Congenita - therapy | Anemia, Diamond-Blackfan - therapy | Hemoglobinuria, Paroxysmal - diagnosis | Child | Anemia, Aplastic - pathology | Hematopoietic Stem Cell Transplantation | International Cooperation | Bone Marrow Diseases - pathology | Consensus Development Conferences as Topic | Anemia, Diamond-Blackfan - diagnosis | Consensus | Fanconi Anemia - diagnosis | Bone Marrow Diseases - immunology | Survival Analysis | Fanconi Anemia - immunology | Fanconi Anemia - therapy | Hemoglobinuria, Paroxysmal - therapy | Dyskeratosis Congenita - immunology | Anemia, Aplastic - immunology | Pediatrics | Conferences, meetings and seminars | Immunodeficiency | Bone marrow | Genetic aspects | Transplantation | Medical screening | Conferences and conventions | Hematopoietic stem cells | Fanconi's anemia | Medical research | Epidemiology | Diseases | Medicine, Experimental | Children | dyskeratosis congenita | pediatric allogeneic hematopoietic cell transplant | late effects | inherited bone marrow failure syndromes
Journal Article
Journal Article
Trends in molecular medicine, ISSN 1471-4914, 2016, Volume 22, Issue 7, pp. 615 - 628
A key aspect of cellular function is the proper assembly and utilization of ribonucleoproteins (RNPs). Recent studies have shown that hyper- or hypo-assembly... 
Pathology | stress granules | dyskeratosis congenita | spinal muscular atrophy | RNA quality control | RNP assembly | therapy | MEDICINE, RESEARCH & EXPERIMENTAL | MYOTONIC-DYSTROPHY TYPE-1 | PRECURSOR RIBOSOMAL-RNA | C9ORF72 REPEAT EXPANSIONS | BIOCHEMISTRY & MOLECULAR BIOLOGY | POLY(A)-SPECIFIC RIBONUCLEASE PARN | CARTILAGE-HAIR HYPOPLASIA | AMYOTROPHIC-LATERAL-SCLEROSIS | DISORDER MOPD I | CELL BIOLOGY | EUKARYOTIC STRESS GRANULES | SPINAL MUSCULAR-ATROPHY | DYSKERATOSIS-CONGENITA | Immunologic Deficiency Syndromes - pathology | Microcephaly - genetics | Scoliosis - genetics | Hair - abnormalities | Humans | Walker-Warburg Syndrome - genetics | Muscular Dystrophies - genetics | Ribonucleoproteins - analysis | Dwarfism - metabolism | Osteochondrodysplasias - genetics | Walker-Warburg Syndrome - metabolism | Hair - pathology | Muscular Atrophy, Spinal - metabolism | Parkinson Disease - pathology | Muscular Dystrophies - metabolism | Hirschsprung Disease - pathology | Fetal Growth Retardation - metabolism | Ribonucleoproteins - metabolism | RNA Stability | Muscular Atrophy, Spinal - pathology | Fetal Growth Retardation - pathology | Osteochondrodysplasias - congenital | Mutation | Osteochondrodysplasias - metabolism | Osteochondrodysplasias - pathology | Hirschsprung Disease - genetics | Hair - metabolism | Fetal Growth Retardation - genetics | Dyskeratosis Congenita - genetics | Scoliosis - pathology | Muscular Atrophy, Spinal - genetics | Microcephaly - pathology | Ribonucleoproteins - genetics | Dyskeratosis Congenita - metabolism | Parkinson Disease - metabolism | Dwarfism - pathology | Walker-Warburg Syndrome - pathology | Mallory Bodies - genetics | Mallory Bodies - pathology | Microcephaly - metabolism | Scoliosis - metabolism | Parkinson Disease - genetics | Muscular Dystrophies - pathology | Dwarfism - genetics | Mallory Bodies - metabolism | Animals | Dyskeratosis Congenita - pathology | Immunologic Deficiency Syndromes - genetics | Immunologic Deficiency Syndromes - metabolism | Hirschsprung Disease - metabolism | RNA | Therapy | Spinal Muscular Atrophy | Stress granules | Dyskeratosis Congenita
Journal Article