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COVID‐19 disease in patients with chronic neutropenia: The experience from the European Network for Innovative Diagnosis and Treatment of Chronic Neutropenias.
- Published in:
- British Journal of Haematology, 2024, v. 204, n. 6, p. 2480, doi. 10.1111/bjh.19411
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- 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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- Article
Ataluren improves myelopoiesis and neutrophil chemotaxis by restoring ribosome biogenesis and reducing p53 levels in Shwachman–Diamond syndrome cells.
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- British Journal of Haematology, 2024, v. 204, n. 1, p. 292, doi. 10.1111/bjh.19134
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- Article
The non‐invasive evaluation of liver involvement in patients with cystic fibrosis: A prospective study.
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- Liver International, 2023, v. 43, n. 11, p. 2492, doi. 10.1111/liv.15748
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- Article
Counteracting the Common Shwachman–Diamond Syndrome-Causing SBDS c.258+2T>C Mutation by RNA Therapeutics and Base/Prime Editing.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 4, p. 4024, doi. 10.3390/ijms24044024
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- Publication type:
- Article
Immunogenicity and Safety of the BNT162b2 COVID-19 Vaccine in Patients with Cystic Fibrosis with or without Lung Transplantation.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 2, p. 908, doi. 10.3390/ijms24020908
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- Article
Impact of COVID-19 on Lung Disease in People with Cystic Fibrosis: A 6-Month Follow-Up Study on Respiratory Outcomes.
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- Biomedicines, 2022, v. 10, n. 11, p. 2771, doi. 10.3390/biomedicines10112771
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- Article
Case Report: Heterozygous Germline Variant in EIF6 Additional to Biallelic SBDS Pathogenic Variants in a Patient With Ribosomopathy Shwachman-Diamond Syndrome.
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- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.896749
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- Article
Phenotypic Variation in Two Siblings Affected with Shwachman-Diamond Syndrome: The Use of Expert Variant Interpreter (eVai) Suggests Clinical Relevance of a Variant in the KMT2A Gene.
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- Genes, 2022, v. 13, n. 8, p. 1314, doi. 10.3390/genes13081314
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- Article
Impact of CFTR Modulators on Beta-Cell Function in Children and Young Adults with Cystic Fibrosis.
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- Journal of Clinical Medicine, 2022, v. 11, n. 14, p. 4149, doi. 10.3390/jcm11144149
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- Article
Clinical course and risk factors for severe COVID-19 among Italian patients with cystic fibrosis: a study within the Italian Cystic Fibrosis Society.
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- Infection, 2022, v. 50, n. 3, p. 671, doi. 10.1007/s15010-021-01737-z
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- Article
The impact of FDA and EMA regulatory decision-making process on the access to CFTR modulators for the treatment of cystic fibrosis.
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- 2022
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- Publication type:
- journal article
Novel Translational Read-through–Inducing Drugs as a Therapeutic Option for Shwachman-Diamond Syndrome.
- Published in:
- Biomedicines, 2022, v. 10, n. 4, p. 886, doi. 10.3390/biomedicines10040886
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- Publication type:
- Article
State-of-the-art review of lung imaging in cystic fibrosis with recommendations for pulmonologists and radiologists from the "iMAging managEment of cySTic fibROsis" (MAESTRO) consortium.
- Published in:
- European Respiratory Review, 2022, v. 31, n. 163, p. 1, doi. 10.1183/16000617.0173-2021
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- Article
Enhanced p53 Levels Are Involved in the Reduced Mineralization Capacity of Osteoblasts Derived from Shwachman–Diamond Syndrome Subjects.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 24, p. 13331, doi. 10.3390/ijms222413331
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- Article
The frequent and clinically benign anomalies of chromosomes 7 and 20 in Shwachman-diamond syndrome may be subject to further clonal variations.
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- Molecular Cytogenetics (17558166), 2021, v. 14, n. 1, p. 1, doi. 10.1186/s13039-021-00575-w
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- Publication type:
- Article
Role of sweat ion ratios in diagnosing cystic fibrosis.
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- Pediatric Pulmonology, 2021, v. 56, n. 7, p. 2023, doi. 10.1002/ppul.25395
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- Article
SARS-CoV-2 infection in cystic fibrosis: A multicentre prospective study with a control group, Italy, February-July 2020.
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- PLoS ONE, 2021, v. 16, n. 5, p. 1, doi. 10.1371/journal.pone.0251527
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- Article
Glucose Tolerance Stages in Cystic Fibrosis Are Identified by a Unique Pattern of Defects of Beta-Cell Function.
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- 2021
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- Publication type:
- journal article
Cystic Fibrosis: Recent Insights into Inhaled Antibiotic Treatment and Future Perspectives.
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- Antibiotics (2079-6382), 2021, v. 10, n. 3, p. 338, doi. 10.3390/antibiotics10030338
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- Publication type:
- Article
SARS-CoV-2 related pneumonia in an adult with cystic fibrosis: natural favourable clinical course or effective therapy?
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- Monaldi Archives for Chest Disease, 2020, v. 90, n. 4, p. 738, doi. 10.4081/monaldi.2020.1579
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- Article
Does cystic fibrosis constitute an advantage in COVID-19 infection?
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- 2020
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- Publication type:
- Letter
Nonsense Suppression Therapy: New Hypothesis for the Treatment of Inherited Bone Marrow Failure Syndromes.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 13, p. 4672, doi. 10.3390/ijms21134672
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- Article
The Gluten Free Diet's Impact on Growth in Children with Celiac Disease in Two Different Countries.
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- Nutrients, 2020, v. 12, n. 6, p. 1547, doi. 10.3390/nu12061547
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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
Microarray expression studies on bone marrow of patients with Shwachman-Diamond syndrome in relation to deletion of the long arm of chromosome 20, other chromosome anomalies or normal karyotype.
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- Molecular Cytogenetics (17558166), 2020, v. 13, n. 1, p. 1, doi. 10.1186/s13039-019-0466-9
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- Publication type:
- Article
Two novel and correlated CF-causing insertions in the (TG)mTn tract of the CFTR gene.
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- PLoS ONE, 2019, v. 14, n. 10, p. 1, doi. 10.1371/journal.pone.0222838
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- Publication type:
- Article
Whole exome sequencing discloses heterozygous variants in the DNAJC21 and EFL1 genes but not in SRP54 in 6 out of 16 patients with Shwachman‐Diamond Syndrome carrying biallelic SBDS mutations.
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- British Journal of Haematology, 2019, v. 185, n. 3, p. 627, doi. 10.1111/bjh.15594
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- Article
Peripheral blood immunophenotyping in a large cohort of patients with Shwachman–Diamond syndrome.
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- Pediatric Blood & Cancer, 2019, v. 66, n. 5, p. N.PAG, doi. 10.1002/pbc.27597
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- Article
Shwachman-Diamond Syndrome: Molecular Mechanisms and Current Perspectives.
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- Molecular Diagnosis & Therapy, 2019, v. 23, n. 2, p. 281, doi. 10.1007/s40291-018-0368-2
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- Article
Shwachman‐Diamond syndrome with clonal interstitial deletion of the long arm of chromosome 20 in bone marrow: haematological features, prognosis and genomic instability.
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- British Journal of Haematology, 2019, v. 184, n. 6, p. 974, doi. 10.1111/bjh.15729
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- Article
Is cellular senescence involved in cystic fibrosis?
- Published in:
- 2019
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- Publication type:
- journal article
Peripheral blood immunophenotyping in a large cohort of patients with Shwachman-Diamond syndrome.
- Published in:
- 2019
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- Publication type:
- journal article
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
Ataluren‐driven restoration of Shwachman‐Bodian‐Diamond syndrome protein function in Shwachman‐Diamond syndrome bone marrow cells.
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- American Journal of Hematology, 2018, v. 93, n. 4, p. 527, doi. 10.1002/ajh.25025
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- Article
Parental origin of the deletion del(20q) in Shwachman-Diamond patients and loss of the paternally derived allele of the imprinted L3MBTL1 gene.
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- Genes, Chromosomes & Cancer, 2017, v. 56, n. 1, p. 51, doi. 10.1002/gcc.22401
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- Article
Evaluation of energy metabolism and calcium homeostasis in cells affected by Shwachman-Diamond syndrome.
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- Scientific Reports, 2016, p. 25441, doi. 10.1038/srep25441
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- Publication type:
- Article
Immunophenotypic analysis of hematopoiesis in patients suffering from Shwachman-Bodian-Diamond Syndrome.
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- European Journal of Haematology, 2015, v. 95, n. 4, p. 308, doi. 10.1111/ejh.12490
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- 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.
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- British Journal of Haematology, 2014, v. 165, n. 4, p. 573, doi. 10.1111/bjh.12767
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- Article
Incidence of Shwachman-Diamond syndrome.
- Published in:
- Pediatric Blood & Cancer, 2012, v. 59, n. 7, p. 1334, doi. 10.1002/pbc.24260
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- Article
Further characterization of Shwachman-Diamond syndrome: Psychological functioning and quality of life in adult and young patients.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 3, p. 567, doi. 10.1002/ajmg.a.35211
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- Article
Draft consensus guidelines for diagnosis and treatment of Shwachman-Diamond syndrome.
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- Annals of the New York Academy of Sciences, 2011, v. 1242, n. 1, p. 40, doi. 10.1111/j.1749-6632.2011.06349.x
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- Article
Genetic Modifiers of Liver Disease in Cystic Fibrosis.
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- JAMA: Journal of the American Medical Association, 2009, v. 302, n. 10, p. 1076, doi. 10.1001/jama.2009.1295
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- Article
Identification of novel mutations in patients with Shwachman-Diamond syndrome.
- Published in:
- Human Mutation, 2005, v. 25, n. 4, p. 410, doi. 10.1002/humu.9324
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- Publication type:
- Article