Results 161 to 170 of about 7,368 (202)

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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Shwachman–Diamond syndrome

MUSCULOSKELETAL SURGERY, 2011
Shwachman-Diamond syndrome (SDS) is a rare autosomal recessive disorder with exocrine pancreatic insufficiency, bone marrow failure and skeletal abnormalities. Patients frequently present failure to thrive, susceptibility to infections and short stature. A persistent or intermittent neutropenia occurs in 88-100% of patients.
DALL'OCA, Carlo, Bondi M., Merlini M., CIPOLLI, MARCO, LAVINI, FRANCO, BARTOLOZZI, Pietro   +5 more
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Shwachman‐Diamond syndrome

Pediatric Blood & Cancer, 2005
AbstractShwachman‐Diamond syndrome (SDS) is an inherited marrow failure disorder with varying cytopenia, pancreatic dysfunction, and metaphyseal dysostosis. SDS is also characterized by a risk of myelodysplasia and leukemia in up to one third of the patients.
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Shwachman-Diamond Syndrome

Seminars in Hematology, 2006
Shwachman-Diamond syndrome (SDS) is an autosomal recessive marrow failure syndrome associated with exocrine pancreatic insufficiency and leukemia predisposition. Bone marrow failure typically manifests with neutropenia, but anemia, thrombocytopenia, or aplastic anemia may also develop.
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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
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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