Inherited Bone Marrow Failure Syndrome

Known as: IBMFS 
A rare disorder in which a person's bone marrow is unable to make enough blood cells and there is a family history of the same disorder. There are… (More)
National Institutes of Health

Papers overview

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2018
2018
The National Cancer Institute Inherited Bone Marrow Failure Syndromes Cohort enrolls patients with the four major syndromes… (More)
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Review
2018
Review
2018
BACKGROUND ERCC6L2-associated disorder has recently been described and only five patients were reported so far. The described… (More)
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2015
2015
BACKGROUND Phenotypic overlap among the inherited bone marrow failure syndromes (IBMFSs) frequently limits the ability to… (More)
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Review
2013
Review
2013
Molecular pathogenesis may be elucidated for inherited bone marrow failure syndromes (IBMFS). The study and presentation of the… (More)
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2011
2011
Our knowledge of the phenotypes of inherited bone marrow failure syndromes (IBMFSs) derives from case reports or case series in… (More)
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Highly Cited
2010
Highly Cited
2010
Fanconi anaemia (FA), dyskeratosis congenita (DC), Diamond-Blackfan anaemia (DBA), and Shwachman-Diamond syndrome (SDS) comprise… (More)
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2010
2010
Telomeres, the nucleotide repeats and protein complex at chromosome ends, are required for chromosomal stability and are… (More)
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2008
2008
OBJECTIVE Unclassified inherited bone marrow failure syndromes are a heterogeneous group of genetic disorders that represent… (More)
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Review
2007
Review
2007
Prompt and accurate diagnosis is required for optimal treatment and genetic counseling of patients with inherited bone marrow… (More)
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Highly Cited
2007
Highly Cited
2007
The autosomal recessive disorder Shwachman-Diamond syndrome, characterized by bone marrow failure and leukemia predisposition, is… (More)
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