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Last Updated: 10/31/2025
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Found 301 publications
A novel MAP7D1 mutation causes mitotic defects and RPS14 accumulation in Shwachman-Diamond syndrome patient cells.
Journal: Disease models & mechanisms
Published: April 09, 2025
Shwachman-Diamond Syndrome and Diabetes: An Update from the Italian Registry and Review of the Literature.
Journal: Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association
Published: January 15, 2025
Clinical and genetic spectrum of SBDS and DNAJC21 gene variants in bone marrow failure cases: Atypical and cryptic presentations.
Journal: Blood cells, molecules & diseases
Published: December 15, 2024
Mitotic abnormalities and spindle assembly checkpoint inactivation in a cell model of Shwachman-Diamond syndrome with mutations in the Shwachman-Bodian-Diamond syndrome gene, 258+2T > C.
Journal: Drug discoveries & therapeutics
Published: October 27, 2024
Prenatal Diagnosis of Shwachman-Diamond Syndrome: Fetal Compound Heterozygous Variants in the SBDS Gene Associated With Mildly Straight Ribs.
Journal: Prenatal diagnosis
Published: October 25, 2024
Reduced EIF6 dosage attenuates TP53 activation in models of Shwachman-Diamond syndrome.
Journal: The Journal of clinical investigation
Published: October 17, 2024
Constitutive systemic inflammation in Shwachman-Diamond Syndrome.
Journal: Molecular medicine (Cambridge, Mass.)
Published: October 09, 2024
Outcomes of allogeneic hematopoietic stem cell transplantation in Shwachman-Diamond syndrome: a systematic review and meta-analysis.
Journal: Cytotherapy
Published: October 04, 2024
Allogeneic hematopoietic stem cell transplantation for Shwachman-Diamond syndrome: a report of three cases and literature review
Journal: Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi
Published: September 04, 2024
The First Fetal Case of Shwachman-Diamond Syndrome Mimicking Vascular Growth Restriction.
Journal: Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
Published: August 31, 2024
Lymphoid malignancies in patients with Shwachman-Diamond syndrome.
Journal: Blood
Published: August 19, 2024
Last Updated: 10/31/2025