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FRONTIERS IN ONCOLOGY, ISSN 2234-943X, 08/2019, Volume 9
Shwachman-Diamond syndrome (SDS) is a rare and systemic disease mostly caused by mutations in the SBDS gene and characterized by pancreatic insufficiency,... 
leukemia | Shwachman-Diamond syndrome | pediatric patient | cooperating mutation | ONCOLOGY | predisposition syndrome | ACUTE MYELOID-LEUKEMIA | SOMATIC MUTATIONS | molecular profiling
Journal Article
World Journal of Clinical Cases, ISSN 2307-8960, 06/2019, Volume 7, Issue 12, pp. 1456 - 1460
BACKGROUND The features of Shwachman-Diamond syndrome (SDS) include exocrine pancreatic insufficiency, skeletal abnormalities and bone marrow dysfunction; an... 
Liver dysfunction | Cirrhosis | Case report | Shwachman-Diamond syndrome | MEDICINE, GENERAL & INTERNAL | DYSFUNCTION | Case Report
Journal Article
JCI INSIGHT, ISSN 2379-3708, 06/2019, Volume 4, Issue 12
Monosomy 7 and deletion of 7q, known as del(7q), are common clonal cytogenetic abnormalities associated with high-grade myelodysplastic syndrome (MDS) arising... 
MEDICINE, RESEARCH & EXPERIMENTAL | EVOLUTION | PROTEIN | EIF6 RELEASE | MECHANISM | GENE-EXPRESSION | SHWACHMAN-DIAMOND-SYNDROME | SAMD9L MUTATIONS CAUSE | STRESS | MYELODYSPLASTIC SYNDROMES | REGION
Journal Article
Best Practice & Research Clinical Haematology, ISSN 1521-6926, 06/2019, Volume 32, Issue 2, pp. 177 - 185
Acute Myeloid Leukemia, the most common form of acute leukemia in adults, is an aggressive hematopoietic stem cell malignancy that is associated with... 
ARCH | CHIP | Acute myeloid leukemia | Myelodysplastic syndrome | Clonal hematopoiesis | SHWACHMAN-DIAMOND SYNDROME | TP53 MUTATIONS | SOMATIC MUTATIONS | EVOLUTION | GENE | FANCONI-ANEMIA PATIENTS | MALIGNANCIES | PROGNOSTIC RELEVANCE | HEMATOLOGY | BONE-MARROW FAILURE | Chemotherapy | Mortality | Hematopoietic stem cells | Cancer
Journal Article
AGING-US, ISSN 1945-4589, 04/2019, Volume 11, Issue 8, pp. 2512 - 2540
The biosynthesis of ribosomes is a complex process that requires the coordinated action of many factors and a huge energy investment from the cell. Ribosomes... 
RNA-POLYMERASE-I | EXTENDS LIFE-SPAN | TREACHER-COLLINS-SYNDROME | NUCLEOLAR ORGANIZER REGIONS | SHWACHMAN-DIAMOND-SYNDROME | TUMOR-SUPPRESSOR P53 | p53 | CELL BIOLOGY | GERIATRICS & GERONTOLOGY | ribosomopathy | P53 PROTEIN OVEREXPRESSION | EMBRYONIC STEM-CELLS | cancer | aging | BONE-MARROW FAILURE | ribosome biogenesis | TCOF1 GENE-PRODUCT
Journal Article
Journal Article
American Journal of Hematology, ISSN 0361-8609, 03/2019, Volume 94, Issue 3, pp. 384 - 393
Identification of genetic causes of neutropenia informs precision medicine approaches to medical management and treatment. Accurate diagnosis of genetic... 
CXCR4 ANTAGONIST PLERIXAFOR | MUTATIONS CAUSE | CLINICAL PRESENTATION | SEVERE CONGENITAL NEUTROPENIA | SHWACHMAN-DIAMOND SYNDROME | GENOMIC ANALYSIS | GUANINE-NUCLEOTIDE EXCHANGE | MIRAGE SYNDROME | HEMATOLOGY | MYELODYSPLASTIC SYNDROME | BONE-MARROW FAILURE | Kidney diseases | Health aspects | Genetic screening | Neutropenia | Genetic testing | Cancer
Journal Article
British Journal of Haematology, ISSN 0007-1048, 03/2019, Volume 184, Issue 5, pp. 710 - 711
Journal Article
Cardiology in the Young, ISSN 1047-9511, 03/2019, Volume 29, Issue 3, pp. 338 - 343
We sought to define the prevalence of echocardiographic abnormalities in long-term survivors of paediatric hematopoietic stem cell transplantation and... 
strain | Bone marrow transplant | cardio-oncology | ejection fraction | hematopoietic stem cell transplant | left ventricular systolic dysfunction | CARDIAC-FUNCTION | YOUNG-ADULTS | CARDIAC & CARDIOVASCULAR SYSTEMS | BONE-MARROW-TRANSPLANTATION | FOLLOW-UP | CARDIOTOXICITY | SHWACHMAN-DIAMOND-SYNDROME | CHILDREN | CHILDHOOD-CANCER SURVIVORS | RECOMMENDATIONS | PEDIATRICS | DYSFUNCTION | Anthracyclines - adverse effects | Hematologic Neoplasms - therapy | Prevalence | Follow-Up Studies | Humans | Echocardiography - methods | Child, Preschool | Infant | Male | Asymptomatic Diseases | Whole-Body Irradiation - adverse effects | Young Adult | Time Factors | Hematopoietic Stem Cell Transplantation - adverse effects | Adult | Female | Retrospective Studies | Ohio - epidemiology | Child | Ventricular Dysfunction, Left - epidemiology | Survivors | Ventricular Dysfunction, Left - etiology | Ventricular Dysfunction, Left - diagnosis | Stroke Volume | Adolescent | Anthracyclines - therapeutic use | Heart | Pediatrics | Transplants & implants | Cardiomyopathy | Radiation | Stem cell transplantation | Systematic review | Transplantation | Cancer therapies | Hematopoietic stem cells | Confidence intervals | Variables | Infusion | Ultrasonic imaging | Age | Echocardiography | Congenital diseases | Abnormalities | Exposure | Breast cancer | Patients | Survival | Hemopoiesis | Screening | Chemotherapy | Surveillance | Anthracycline | Cardiac function | Stem cells | Irradiation | Software | Adults | Ejection
Journal Article
BMJ Open, ISSN 2044-6055, 01/2019, Volume 9, Issue 1, pp. e022617 - e022617
ObjectivesShwachman-Diamond syndrome (SDS) is a rare autosomal recessive disorder. Its predominant manifestations include exocrine pancreatic insufficiency,... 
growth charts | Shwachman-diamond syndrome | genetics | Body mass index | Genetic disorders | Cognitive ability | Bone marrow | Software | Down syndrome | Mutation | Patients | Age
Journal Article
Current Opinion in Hematology, ISSN 1065-6251, 01/2019, Volume 26, Issue 1, pp. 34 - 40
Journal Article