Associated Papers
Growth Patterns in Shwachman-Diamond Syndrome: Findings from the North American Shwachman-Diamond Syndrome Registry.
Schwarz L et al.
The Journal of Pediatrics, 2025
Hematologic complications with age in Shwachman-Diamond syndrome.
Furutani E et al.
Blood Advances, 2022
34758064 (PubMed )
Supplement: advancesADV2021005539-suppl1.pdf
Improved detection of SBDS gene mutation by a new method of next-generation sequencing analysis based on the Chinese mutation spectrum.
Wu D et al.
Plos One, 2022
IDH1 as a Cooperating Mutation in AML Arising in the Context of Shwachman-Diamond Syndrome.
Mourad S et al.
Frontiers in Oncology, 2019
Reanalysing genomic data by normalized coverage values uncovers CNVs in bone marrow failure gene panels.
Lauhasurayotin S et al.
Npj Genomic Medicine, 2019
Abnormal circumferential strain measured by echocardiography is present in patients with Shwachman-Diamond syndrome despite normal shortening fraction.
Ryan TD et al.
Pediatric Blood & Cancer, 2015
Variable clinical presentation of Shwachman-Diamond syndrome: update from the North American Shwachman-Diamond Syndrome Registry.
Myers KC et al.
The Journal of Pediatrics, 2014
Genetic analysis of inherited bone marrow failure syndromes from one prospective, comprehensive and population-based cohort and identification of novel mutations.
Tsangaris E et al.
Journal of Medical Genetics, 2011
A novel mutation in a Fijian boy with Shwachman-Diamond syndrome.
Newman AR et al.
Journal of Pediatric Hematology/oncology, 2009
The Shwachman-Diamond SBDS protein localizes to the nucleolus.
Austin KM et al.
Blood, 2005
Skeletal phenotype in patients with Shwachman-Diamond syndrome and mutations in SBDS.
Mäkitie O et al.
Clinical Genetics, 2004
Mutations in SBDS are associated with Shwachman-Diamond syndrome.
Boocock GR et al.
Nature Genetics, 2003
[New methods for the detection of gene mutation].
Zhang B et al.
Zhonghua Bing Li Xue Za Zhi = Chinese Journal of Pathology, 1993
Hematologically important mutations: Shwachman-Diamond syndrome.
Costa E et al.
Blood Cells, Molecules & Diseases, 0
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