Works matching DE "SHWACHMAN-Diamond Syndrome"
Results: 48
Bispectral index monitoring in a patient with combination of congenital insensitivity to pain with anhidrosis (CIPA) and Shwachman-Diamond syndrome.
- Published in:
- 2014
- By:
- Publication type:
- Letter
Shwachman-diamond syndrome: Are we missing many?
- Published in:
- Indian Pediatrics, 2012, v. 49, n. 9, p. 748, doi. 10.1007/s13312-012-0138-x
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- Publication type:
- Article
Shwachman-Diamond syndrome: a complex case demonstrating the potential for misdiagnosis as asphyxiating thoracic dystrophy (Jeune syndrome).
- Published in:
- BMC Pediatrics, 2012, v. 12, n. 1, p. 48, doi. 10.1186/1471-2431-12-48
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- Publication type:
- Article
RADIOSENSITIVITY IN LYMPHOBLASTOID CELL LINES DERIVED FROM SHWACHMAN-DIAMOND SYNDROME PATIENTS.
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- Radiation Protection Dosimetry, 2015, v. 166, p. 95, doi. 10.1093/rpd/ncv152
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- Publication type:
- Article
RADIOSENSITIVITY IN LYMPHOBLASTOID CELL LINES DERIVED FROM SHWACHMAN-DIAMOND SYNDROME PATIENTS.
- Published in:
- Radiation Protection Dosimetry, 2015, v. 166, n. 1-4, p. 95, doi. 10.1093/rpd/ncv152
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- Publication type:
- Article
In Vivo Senescence in the Sbds-Deficient Murine Pancreas: Cell-Type Specific Consequences of Translation Insufficiency.
- Published in:
- PLoS Genetics, 2015, v. 11, n. 6, p. 1, doi. 10.1371/journal.pgen.1005288
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- Publication type:
- Article
Lethal Complications and Complex Genotypes in Shwachman Diamond Syndrome: Report of a Family with Recurrent Neonatal Deaths and a Case-Based Brief Review of the Literature.
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- Children, 2024, v. 11, n. 6, p. 705, doi. 10.3390/children11060705
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- Publication type:
- Article
Shwachman-Diamond syndrome (SDS) in a preterm neonate.
- Published in:
- 2015
- By:
- Publication type:
- journal article
Liver transplantation for very severe hepatopulmonary syndrome due to vitamin A-induced chronic liver disease in a patient with Shwachman-Diamond syndrome.
- Published in:
- 2018
- By:
- Publication type:
- Case Study
Mesenchymal stromal cells from Shwachman‐Diamond syndrome patients fail to recreate a bone marrow niche in vivo and exhibit impaired angiogenesis.
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- British Journal of Haematology, 2018, v. 182, n. 1, p. 114, doi. 10.1111/bjh.15388
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- Publication type:
- Article
Absence of acquired copy number neutral loss of heterozygosity ( CN- LOH) of chromosome 7 in a series of 10 patients with Shwachman-Diamond syndrome.
- Published in:
- British Journal of Haematology, 2014, v. 165, n. 4, p. 573, doi. 10.1111/bjh.12767
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- Publication type:
- Article
Cytokine production by bone marrow mononuclear cells in inherited bone marrow failure syndromes.
- Published in:
- British Journal of Haematology, 2013, v. 163, n. 1, p. 81, doi. 10.1111/bjh.12475
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- Publication type:
- Article
Absence of SBDS mutations in sporadic paediatric acute myeloid leukaemia.
- Published in:
- British Journal of Haematology, 2013, v. 160, n. 4, p. 559, doi. 10.1111/bjh.12134
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- Publication type:
- Article
Inherited causes of exocrine pancreatic insufficiency in pediatric patients: clinical presentation and laboratory testing.
- Published in:
- Critical Reviews in Clinical Laboratory Sciences, 2023, v. 60, n. 5, p. 366, doi. 10.1080/10408363.2023.2179968
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- Publication type:
- Article
Genetic characterization of GSD I in Serbian population revealed unexpectedly high incidence of GSD Ib and 3 novel SLC37A4 variants.
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- Clinical Genetics, 2018, v. 93, n. 2, p. 350, doi. 10.1111/cge.13093
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- Publication type:
- Article
Two mutations in the SBDS gene reveal a diagnosis of Shwachman-Diamond syndrome in a patient with atypical symptoms.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 7, p. 1, doi. 10.1101/mcs.a006237
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- Publication type:
- Article
Shwachman-Diamond syndrome.
- Published in:
- Anaesthesiologie & Intensivmedizin, 2021, v. 62, p. 1, doi. 10.19224/ai2021.S001
- Publication type:
- Article
A case of Shwachman-Diamond syndrome.
- Published in:
- 2013
- By:
- Publication type:
- Abstract
Different loss of material in recurrent chromosome 20 interstitial deletions in Shwachman-Diamond syndrome and in myeloid neoplasms.
- Published in:
- Molecular Cytogenetics (17558166), 2013, v. 6, n. 1, p. 1, doi. 10.1186/1755-8166-6-56
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- Publication type:
- Article
Structural variation and missense mutation in SBDS associated with Shwachman-Diamond syndrome.
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- BMC Medical Genetics, 2014, v. 15, n. 1, p. 1, doi. 10.1186/1471-2350-15-64
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- Publication type:
- Article
Pearson Syndrome: A Rare Cause of Failure to Thrive in Infants.
- Published in:
- 2019
- By:
- Publication type:
- Case Study
Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond-like features.
- Published in:
- 2017
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- Publication type:
- journal article
Shwachman-Bodian-Diamond syndrome: metaphyseal chondrodysplasia in children with pancreatic insufficiency and neutropenia.
- Published in:
- Pediatric Radiology, 2015, v. 45, n. 7, p. 1066, doi. 10.1007/s00247-014-3231-6
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- Publication type:
- Article
Misdiagnosis as asphyxiating thoracic dystrophy and CMV-associated haemophagocytic lymphohistiocytosis in Shwachman-Diamond syndrome.
- Published in:
- European Journal of Pediatrics, 2013, v. 172, n. 5, p. 613, doi. 10.1007/s00431-012-1908-0
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- Publication type:
- Article
Atrioventricular septal defect in a case of Shwachman–Diamond syndrome.
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- Cardiology in the Young, 2014, v. 24, n. 3, p. 549, doi. 10.1017/S104795111300084X
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- Publication type:
- Article
Altered Intracellular Localization and Mobility of SBDS Protein upon Mutation in Shwachman-Diamond Syndrome.
- Published in:
- PLoS ONE, 2011, v. 6, n. 6, p. 1, doi. 10.1371/journal.pone.0020727
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- Publication type:
- Article
Acquired copy number neutral loss of heterozygosity of chromosome 7 associated with clonal haematopoiesis in a patient with Shwachman- Diamond syndrome.
- Published in:
- British Journal of Haematology, 2012, v. 159, n. 4, p. 480, doi. 10.1111/bjh.12032
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- Publication type:
- Article
Deletion of chromosome 20 in bone marrow of patients with Shwachman- Diamond syndrome, loss of the EIF6 gene and benign prognosis.
- Published in:
- British Journal of Haematology, 2012, v. 157, n. 4, p. 503, doi. 10.1111/j.1365-2141.2012.09033.x
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- Publication type:
- Article
Spectrum of diabetes mellitus in patients with Shwachman-Diamond syndrome: case report and review of the literature.
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- Italian Journal of Pediatrics, 2023, v. 49, n. 1, p. 1, doi. 10.1186/s13052-023-01501-z
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- Publication type:
- Article
Spectrum of diabetes mellitus in patients with Shwachman-Diamond syndrome: case report and review of the literature.
- Published in:
- Italian Journal of Pediatrics, 2023, v. 49, n. 1, p. 1, doi. 10.1186/s13052-023-01501-z
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- Publication type:
- Article
SBDS-Deficient Cells Have an Altered Homeostatic Equilibrium due to Translational Inefficiency Which Explains their Reduced Fitness and Provides a Logical Framework for Intervention.
- Published in:
- PLoS Genetics, 2017, v. 13, n. 1, p. 1, doi. 10.1371/journal.pgen.1006552
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- Publication type:
- Article
Mechanism of eIF6 release from the nascent 60S ribosomal subunit.
- Published in:
- Nature Structural & Molecular Biology, 2015, v. 22, n. 11, p. 914, doi. 10.1038/nsmb.3112
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- Publication type:
- Article
Ribosomal 60S-subunit production: the final scene.
- Published in:
- Nature Structural & Molecular Biology, 2015, v. 22, n. 11, p. 837, doi. 10.1038/nsmb.3121
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- Publication type:
- Article
Prognostic Values From Integrated Analysis of the Nomogram Based on RNA-Binding Proteins and Clinical Factors in Endometrial Cancer.
- Published in:
- Clinical Medicine Insights: Oncology, 2022, p. 1, doi. 10.1177/11795549221123620
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- Publication type:
- Article
Genetics Corner: A Neonatal Case of Shwachman-Diamond Syndrome with Prominent Skeletal Anomalies Diagnosed by Whole Exome Sequencing.
- Published in:
- 2022
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- Publication type:
- Case Study
Management challenges in Shwachman-Diamond syndrome.
- Published in:
- Infant, 2021, v. 17, n. 6, p. 242
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- Publication type:
- Article
Growth Charts for Shwachman–Diamond Syndrome at Ages 0 to 18 Years.
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- Cancers, 2024, v. 16, n. 7, p. 1420, doi. 10.3390/cancers16071420
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- Publication type:
- Article
mTOR and STAT3 Pathway Hyper-Activation is Associated with Elevated Interleukin-6 Levels in Patients with Shwachman-Diamond Syndrome: Further Evidence of Lymphoid Lineage Impairment.
- Published in:
- Cancers, 2020, v. 12, n. 3, p. 597, doi. 10.3390/cancers12030597
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- Publication type:
- Article
Immunophenotypic analysis of hematopoiesis in patients suffering from Shwachman-Bodian-Diamond Syndrome.
- Published in:
- European Journal of Haematology, 2015, v. 95, n. 4, p. 308, doi. 10.1111/ejh.12490
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- Publication type:
- Article
Somatic development in children with Shwachman-Diamond syndrome.
- Published in:
- Italian Journal of Pediatrics, 2020, v. 46, n. 1, p. N.PAG, doi. 10.1186/s13052-020-00919-z
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- Publication type:
- Article
Can treatment of malabsorption in Shwachman–Diamond syndrome improve prognosis?
- Published in:
- 2018
- By:
- Publication type:
- Editorial
Shwachman–Diamond syndrome: Nationwide survey and systematic review in Japan.
- Published in:
- Pediatrics International, 2018, v. 60, n. 8, p. 719, doi. 10.1111/ped.13601
- By:
- Publication type:
- Article
Quality of life assessment in patients with cystic fibrosis by means of the Cystic Fibrosis Questionnaire.
- Published in:
- Brazilian Journal of Pulmonology / Jornal Brasileiro de Pneumologia, 2011, v. 37, n. 2, p. 184, doi. 10.1590/S1806-37132011000200008
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- Publication type:
- Article
Interaction of the GTPase Elongation Factor Like-1 with the Shwachman-Diamond Syndrome Protein and Its Missense Mutations.
- Published in:
- International Journal of Molecular Sciences, 2018, v. 19, n. 12, p. 4012, doi. 10.3390/ijms19124012
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- Publication type:
- Article
Association of isochromosome (7)(q10) in Shwachman–Diamond syndrome with the severity of cytopenia.
- Published in:
- 2018
- By:
- Publication type:
- Case Study
Syndrome of progressive bone marrow failure and pancreatic insufficiency remains cryptic despite whole exome sequencing: variant of Shwachman-Diamond syndrome or new condition?
- Published in:
- Clinical Case Reports, 2017, v. 5, n. 6, p. 748, doi. 10.1002/ccr3.931
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- Publication type:
- Article
Author Correction: Pluripotent stem cell model of Shwachman–Diamond syndrome reveals apoptotic predisposition of hemoangiogenic progenitors.
- Published in:
- 2021
- By:
- Publication type:
- Correction Notice
Pluripotent stem cell model of Shwachman–Diamond syndrome reveals apoptotic predisposition of hemoangiogenic progenitors.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41598-020-71844-8
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- Publication type:
- Article