Results 41 to 50 of about 7,368 (202)
Biomolecules, 2023 Inherited bone marrow failure syndromes (IBMFSs) include Fanconi anemia, Diamond–Blackfan anemia, Shwachman–Diamond syndrome, dyskeratosis congenita, severe congenital neutropenia, and other rare entities such as GATA2 deficiency and SAMD9/9L mutations ...
Nozomu Kawashima +2 more
doaj +1 more source
Shwachman-Diamond syndromes: clinical, genetic, and biochemical insights from the rare variants
Haematologica, 2023 Shwachman-Diamond syndrome is a rare inherited bone marrow failure syndrome characterized by neutropenia, exocrine pancreatic insufficiency, and skeletal abnormalities. In 10-30% of cases, transformation to a myeloid neoplasm occurs.
Nozomu Kawashima +4 more
doaj +1 more source
Haematologica, 2009 Shwachman-Diamond syndrome is a hereditary disorder characterized by pancreatic insufficiency and bone marrow failure. Most Shwachman-Diamond syndrome patients have mutations in the SBDS gene located at chromosome 7 and suffer from recurrent infections ...
Claudia Orelio, Taco W. Kuijpers
doaj +1 more source
Haematologica, 2010 Background Diamond-Blackfan anemia and Shwachman-Diamond syndrome are inherited bone marrow failure syndromes linked to defects in ribosome synthesis.
Joseph B. Moore +4 more
doaj +1 more source
Shwachman-Diamond syndrome: first molecular diagnosis in a Brazilian child
Revista Brasileira de Hematologia e Hemoterapia, 2013 Herein the first molecular diagnosis of a Brazilian child with Shwachman-Diamond Syndrome is reported. A 6-year-old boy was diagnosed with cystic fibrosis at the age of 15 months due to recurrent respiratory infections, diarrhea and therapeutic response ...
Cresio Alves +4 more
doaj +1 more source
Inherited Bone Marrow Failure Syndromes in Children
The Journal of Pediatric Academy, 2023 Inherited bone marrow failure syndromes are disorders of hematopoiesis that are mostly encountered in childhood. Taking the basis from genetics, they are characterized by pancytopenia, increased risk of developing myelodysplastic syndrome and malignancy.
Mehmet Emin Ertunç +3 more
doaj +1 more source
Shwachman-Diamond syndrome: A case report. [PDF]
Medicine (Baltimore)Rationale: Shwachman–Diamond syndrome (SDS) is a rare autosomal recessive genetic disease, the diagnosis is a big challenge for clinician, as the clinical manifestations of the disease are diverse. Here, we report a girl who diagnosed with SDS with the symptoms of recurrent fever, elevated transaminase levels, and ...
Liu Z +7 more
europepmc +3 more sources
Absence of acquired copy number neutral loss of heterozygosity (CN-LOH) of chromosome 7 in a series of 10 patients with Shwachman-Diamond syndrome [PDF]
, 2014 We report that acquired copy number neutral loss of heterozygosity (CN-LOH) of chromosome 7 was not identified in a series of 10 patients with Shwachman\u2013Diamond syndrome (SDS)
Cannioto, Z. +12 more
core +1 more source
Telomere length in inherited bone marrow failure syndromes
Haematologica, 2015 Telomeres are long DNA repeats and a protein complex at chromosome ends that are essential for genome integrity. Telomeres are very short in patients with dyskeratosis congenita due to germline mutations in telomere biology genes.
Blanche P. Alter +3 more
doaj +1 more source
Delayed diagnosis of Shwachman diamond syndrome with short telomeres and a review of cases in Asia
Leukemia Research Reports, 2018 Inherited bone marrow failure syndrome (IBMFS) including Shwachman Diamond Syndrome (SDS) can present initially to the hematologist with myelodysplastic syndrome (MDS).
Shin Yeu Ong +5 more
doaj +1 more source