Associated Papers
The Genetic Landscape of Acute Necrotizing Encephalopathy: Insights Into the Possible Pathogenesis.
Geng C et al.
Journal of Clinical Neurology (seoul, Korea), 2025
Two Variants of the ANK1 Gene Associated with Hereditary Spherocytosis.
Bogusławska DM et al.
Biomedicines, 2025
Clinical and genetic characteristics of Chinese patients with Shwachman Diamond syndrome: a literature review of Chinese publication.
Wang L et al.
Experimental Biology and Medicine (maywood, N.j.), 2024
Variant Allele Frequency of Pseudogene-Related Variants in Short-read Next-Generation Sequencing Data May Mislead Genetic Diagnosis: A Case of Shwachman-Diamond Syndrome.
Lee H et al.
Annals of Laboratory Medicine, 2023
Clinical features, epidemiology, and treatment of Shwachman-Diamond syndrome: a systematic review.
Han X et al.
Bmc Pediatrics, 2023
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
A deep analysis using panel-based next-generation sequencing in an Ecuadorian pediatric patient with anaplastic astrocytoma: a case report.
García-Cárdenas JM et al.
Journal of Medical Case Reports, 2020
Shortfall of exome analysis for diagnosis of Shwachman-Diamond syndrome: Mismapping due to the pseudogene SBDSP1.
Yamada M et al.
American Journal of Medical Genetics. Part A, 2020
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
Variations in exon-2 of SBDS gene and its association with aplastic anemia.
Jain D et al.
International Journal of Laboratory Hematology, 2014
Young-age-onset pancreatoduodenal carcinoma in Shwachman-Diamond syndrome.
Nakaya T et al.
Pathology International, 2014
Absence of SBDS mutations in sporadic paediatric acute myeloid leukaemia.
Aalbers AM et al.
British Journal of Haematology, 2013
The preferential occurrence of FLT3-TKD mutations in inv(16) AML and impact on survival outcome: a combined analysis of 1053 core-binding factor AML patients.
Kok CH et al.
British Journal of Haematology, 2013
Mutations of the Shwachman-Bodian-Diamond syndrome gene in patients presenting with refractory cytopenia--do we have to screen?
Karow A et al.
Haematologica, 2010
A novel mutation in a Fijian boy with Shwachman-Diamond syndrome.
Newman AR et al.
Journal of Pediatric Hematology/oncology, 2009
Gene conversion causing human inherited disease: evidence for involvement of non-B-DNA-forming sequences and recombination-promoting motifs in DNA breakage and repair.
Chuzhanova N et al.
Human Mutation, 2009
A case of Shwachman-Diamond syndrome confirmed with genetic analysis in a Korean child.
Lee JH et al.
Journal of Korean Medical Science, 2008
Mutation of SBDS and SH2D1A is not associated with aplastic anemia in Japanese children.
Wang Y et al.
Haematologica, 2007
Discordant endocrinopathy in a sibling with shwachman-diamond syndrome.
Kawashima H et al.
Journal of Tropical Pediatrics, 2006
Genetic analysis of Shwachman-Diamond syndrome: phenotypic heterogeneity in patients carrying identical SBDS mutations.
Kawakami T et al.
The Tohoku Journal of Experimental Medicine, 2005
Molecular characterization of a Portuguese patient with Shwachman-Diamond syndrome.
Lima RM et al.
Journal of Pediatric Gastroenterology and Nutrition, 2005
Identification of novel mutations in patients with Shwachman-Diamond syndrome.
Nicolis E et al.
Human Mutation, 2005
Novel SBDS mutations caused by gene conversion in Japanese patients with Shwachman-Diamond syndrome.
Nakashima E et al.
Human 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
Identification of a novel AluSx-mediated deletion of exon 3 in the SBDS gene in a patient with Shwachman-Diamond syndrome.
Costa E et al.
Blood Cells, Molecules & Diseases, 0
Hematologically important mutations: Shwachman-Diamond syndrome.
Costa E et al.
Blood Cells, Molecules & Diseases, 0