Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1989 1
1990 1
2000 1
2001 1
2002 1
2007 1
2010 1
2011 3
2012 2
2013 4
2014 3
2015 2
2016 1
2017 3
2018 3
2019 4
2020 1
2021 2
2022 2
2023 1
2024 1

Text availability

Article attribute

Article type

Publication date

Search Results

30 results

Results by year

Filters applied: . Clear all
Page 1
Shwachman-Diamond Syndrome: Molecular Mechanisms and Current Perspectives.
Bezzerri V, Cipolli M. Bezzerri V, et al. Mol Diagn Ther. 2019 Apr;23(2):281-290. doi: 10.1007/s40291-018-0368-2. Mol Diagn Ther. 2019. PMID: 30413969 Review.
Shwachman-Diamond syndrome (SDS) is a rare inherited disease mainly caused by mutations in the Shwachman-Bodian-Diamond Syndrome (SBDS) gene. ...Almost 15-20% of patients with SDS present myelodysplastic syndrome with a high risk o
Shwachman-Diamond syndrome (SDS) is a rare inherited disease mainly caused by mutations in the Shwachman-Bodian-
Shwachman Diamond syndrome: narrow genotypic spectrum and variable clinical features.
Thompson AS, Giri N, Gianferante DM, Jones K, Savage SA, Alter BP, McReynolds LJ. Thompson AS, et al. Pediatr Res. 2022 Dec;92(6):1671-1680. doi: 10.1038/s41390-022-02009-8. Epub 2022 Mar 23. Pediatr Res. 2022. PMID: 35322185 Free PMC article. Review.
BACKGROUND AND OBJECTIVES: Shwachman Diamond syndrome (SDS) is an inherited bone marrow failure syndrome (IBMFS) associated with pancreatic insufficiency, neutropenia, and skeletal dysplasia. ...CLINICAL TRIAL REGISTRATION: ClinicalTrials.gov Identifie …
BACKGROUND AND OBJECTIVES: Shwachman Diamond syndrome (SDS) is an inherited bone marrow failure syndrome (IBMFS) …
Clinical spectrum and molecular pathophysiology of Shwachman-Diamond syndrome.
Huang JN, Shimamura A. Huang JN, et al. Curr Opin Hematol. 2011 Jan;18(1):30-5. doi: 10.1097/MOH.0b013e32834114a5. Curr Opin Hematol. 2011. PMID: 21124213 Free PMC article. Review.
PURPOSE OF REVIEW: Shwachman-Diamond syndrome (SDS) is an inherited bone marrow failure and cancer predisposition syndrome that affects multiple organ systems. Mutations in the Shwachman-Bodian-Diamond syndrome (SBDS) gene are foun …
PURPOSE OF REVIEW: Shwachman-Diamond syndrome (SDS) is an inherited bone marrow failure and cancer predisposition sy
Clinical and molecular pathophysiology of Shwachman-Diamond syndrome: an update.
Myers KC, Davies SM, Shimamura A. Myers KC, et al. Hematol Oncol Clin North Am. 2013 Feb;27(1):117-28, ix. doi: 10.1016/j.hoc.2012.10.003. Epub 2012 Nov 3. Hematol Oncol Clin North Am. 2013. PMID: 23351992 Free PMC article. Review.
Shwachman-Diamond syndrome (SDS) is an inherited neutropenia syndrome associated with a significant risk of aplastic anemia and malignant transformation. Multiple additional organ systems, including the pancreas, liver, and skeletal and central nervous
Shwachman-Diamond syndrome (SDS) is an inherited neutropenia syndrome associated with a significant risk of apla
Shwachman-Diamond syndrome: clinical phenotypes.
Cipolli M. Cipolli M. Pancreatology. 2001;1(5):543-8. doi: 10.1159/000055858. Pancreatology. 2001. PMID: 12120235 Review.
The clinical phenotype of Shwachman-Diamond syndrome (SDS) is extremely heterogeneous, showing a wide range of abnormalities and symptoms. The main characteristics of the syndrome are exocrine pancreatic dysfunction, haematologic abnormality and growth …
The clinical phenotype of Shwachman-Diamond syndrome (SDS) is extremely heterogeneous, showing a wide range of abnormal …
Mechanisms of leukemic transformation in congenital neutropenia.
Link DC. Link DC. Curr Opin Hematol. 2019 Jan;26(1):34-40. doi: 10.1097/MOH.0000000000000479. Curr Opin Hematol. 2019. PMID: 30431463 Free PMC article. Review.
PURPOSE OF REVIEW: The development of a myelodysplastic syndrome (MDS) or acute myeloid leukemia (AML) in patients with congenital neutropenia is now the major cause of mortality. ...This review focuses on mechanisms of leukemic transformation in severe congenital neutrope …
PURPOSE OF REVIEW: The development of a myelodysplastic syndrome (MDS) or acute myeloid leukemia (AML) in patients with congenital ne …
Molecular basis of the human ribosomopathy Shwachman-Diamond syndrome.
Warren AJ. Warren AJ. Adv Biol Regul. 2018 Jan;67:109-127. doi: 10.1016/j.jbior.2017.09.002. Epub 2017 Sep 6. Adv Biol Regul. 2018. PMID: 28942353 Free PMC article. Review.
In particular, recent advances in cryo-electron microscopy, coupled with genetic, biochemical and prior structural data, have revealed that the SBDS protein that is deficient in the inherited leukaemia predisposition disorder Shwachman-Diamond syndrome couple …
In particular, recent advances in cryo-electron microscopy, coupled with genetic, biochemical and prior structural data, have revealed that …
[Two cases of Shwachman-Diamond syndrome with genetic confirmation and literature review].
Shen J, Lin K, An Y, Wu YM, Qiao ZW, Yu H, Zhu QR, Zhang T. Shen J, et al. Zhonghua Er Ke Za Zhi. 2013 Sep;51(9):679-83. Zhonghua Er Ke Za Zhi. 2013. PMID: 24330988 Review. Chinese.
OBJECTIVE: To study clinical features and gene mutations in Shwachman-Diamond syndrome (SDS), a rare autosomal recessive disease, in children. METHOD: Clinical manifestations, laboratory examinations, image studies, and genetic testing of two cases with SDS w …
OBJECTIVE: To study clinical features and gene mutations in Shwachman-Diamond syndrome (SDS), a rare autosomal recessiv …
Spectrum of diabetes mellitus in patients with Shwachman-Diamond syndrome: case report and review of the literature.
Navasardyan LV, Furlan I, Brandt S, Schulz A, Wabitsch M, Denzer C. Navasardyan LV, et al. Ital J Pediatr. 2023 Aug 14;49(1):98. doi: 10.1186/s13052-023-01501-z. Ital J Pediatr. 2023. PMID: 37580732 Free PMC article. Review.
BACKGROUND: Shwachman-Diamond syndrome (SDS) is a rare congenital disorder caused by mutations in the SBDS gene and characterized by exocrine pancreatic deficiency, hematologic dysfunction, and skeletal growth failure. ...CONCLUSIONS: Considering that the SBD …
BACKGROUND: Shwachman-Diamond syndrome (SDS) is a rare congenital disorder caused by mutations in the SBDS gene and cha …
Neonatal manifestations of inherited bone marrow failure syndromes.
Khincha PP, Savage SA. Khincha PP, et al. Semin Fetal Neonatal Med. 2016 Feb;21(1):57-65. doi: 10.1016/j.siny.2015.12.003. Epub 2015 Dec 24. Semin Fetal Neonatal Med. 2016. PMID: 26724991 Free PMC article. Review.
Many of these syndromes, such as Fanconi anemia, dyskeratosis congenita and Diamond-Blackfan anemia, confer risks of multiple medical complications later in life, including an increased risk of cancer. ...
Many of these syndromes, such as Fanconi anemia, dyskeratosis congenita and Diamond-Blackfan anemia, confer risks of multiple medical …
30 results