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[Allogeneic hematopoietic stem cell transplantation for Shwachman-Diamond syndrome: a report of three cases and literature review]. [PDF]

Zhonghua Xue Ye Xue Za Zhi
Feng AH, Shi JM, Fu HR, Yu J, Zheng WY, Zhu YY, Huang H, Zhao YM.   +7 more
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Ataluren Treatment Improves Hematopoietic and Pancreatic Disorders in Patients with Shwachman-Diamond Syndrome

Cipolli M, Bezzerri V, Pegoraro A, Hristodor A, Crane G, Meneghelli I, Brignole C, Boni C, Baldisseri E, Vella A, Menichetti G, Valli R, Porta G, D'Amico G, Tecchio C, Parisi A, Lippi G, Cesaro S, Corey S.   +18 more
europepmc   +1 more source

Shwachman-Diamond Syndrome: frequent misdiagnosis as Jeune Syndrome and other peculiarities

Pediatric Rheumatology Online Journal, 2011
Corveleyn A, Bossuyt X, Bordon V, Vermylen C, Sevenants L, Haerynck F, Schaballie H, Meyts I, Uyttebroeck A, Renard M   +9 more
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Prenatal Diagnosis of Shwachman–Diamond Syndrome: Fetal Compound Heterozygous Variants in the SBDS Gene Associated With Mildly Straight Ribs

Prenatal Diagnosis
Shwachman–Diamond Syndrome (SDS) is a rare genetic disorder with pancreatic insufficiency, bone marrow failure, and skeletal abnormalities. Prenatal diagnosis is rare, with only one previous case.
Linyan Zhu, Xuhong Wang, Yubo Shi, Xiaxi Huang, Huiqing Ding   +4 more
semanticscholar   +1 more source

Genetic and clinical characteristics of patients with Shwachman Diamond syndrome with special consideration of treatment with granulocyte-colony stimulating factor

Haematologica
Not available.
S. Mellor‐Heineke, J. Skokowa, N. Gerschmann, E. Deordieva, Ivan Tesakov, Sally Kinsey, Maja Klaudel-Dreszler, Piero Farruggia, Martina Suková, Mikael Sundin, Yasmine El Chazli, Tania Masmas, Leen Willems, G. Ebetsberger-Dachs, Hans C Erichsen, O. Steinberg-Shemer, A. Shcherbina, Karl Welte, C. Zeidler   +18 more
semanticscholar   +1 more source

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.

Drug Discoveries & Therapeutics
Hematologic abnormalities are the most common symptoms of Shwachman-Diamond syndrome (SDS). The causative gene for SDS is the Shwachman-Bodian-Diamond syndrome (SBDS) gene; however, the function of SBDS and pathogenesis of each condition in SDS are ...
Yukihiro Sera, Tsuneo Imanaka, Yusuke Iguchi, Masafumi Yamaguchi   +3 more
semanticscholar   +1 more source

The First Fetal Case of Shwachman-Diamond Syndrome Mimicking Vascular Growth Restriction

Pediatric and Developmental Pathology
Shwachman-Diamond Syndrome (SDS) is a rare autosomal recessive genetic condition with 90% of cases associated with biallelic pathogenic variants in the Shwachman-Bodian-Diamond Syndrome (SBDS) gene on chromosome 7q.11.21.
Nicoleta-Andreea Bobric, Julie Grevoul-Fesquet, Luc Rigonnot, Detlef Trost, A. Boughalem, J. Martinovic   +5 more
semanticscholar   +1 more source

Incidence of Myeloid Malignancy in Shwachman-Diamond Syndrome: An International Cohort Study

Blood
Introduction: Shwachman Diamond syndrome (SDS) is a genetic bone marrow failure syndrome associated with a predisposition to developing myeloid malignancies. Survival is exceptionally poor for patients who develop MDS or AML.
Kasiani C Myers, Jie He, Ben Goldberg, Christopher R Reilly, Yang Wan, Xiaofan Zhu, S. Cesaro, Marco Cipolli, A. Bertuch, Candelaria O'Farrell, Kenichiro Watanabe, A. Kattamis, Polyxeni Delaporta, M. Cotter, Eoghan Dunlea, Taizo A Nakano, A. Geddis, K. Brundige, Ian Atkinson, Katherine Coyne, S. Loveless, Leah Cheng, Edie A. Weller, J. Donadieu, Akiko Shimamura   +24 more
semanticscholar   +1 more source