Fanconi anemia (FA) is a rare hereditary disease characterized by bone marrow failure and developmental anomalies; a high incidence of myelodysplasia (MDS), acute nonlymphocytic leukemia (AML), and solid tumors; and cellular hypersensitivity to cross-linking agents. The genetic basis of FA is ...
Wildemann1 Abstract Background: Myelinoclastic diffuse sclerosis (MDS; also termed Schilder's disease) is a rare inflammatory demyelinating disorder of the central nervous system characterised by demyelination of vast areas of the white matter. It is unclear whether MDS is a variant of multiple ...
on behalf of the European Working Group on MDS in childhood (EWOG-MDS) Rights and permissions Reprints and permissions About this article Cite this article Zecca, M., Bergamaschi, G., Kratz, C. et al. JAK2 V617F mutation is a rare event in juvenile myelomonocytic leukemia. Leukemia 21,...
Is MDS the same as multiple myeloma? Does multiple myeloma cause amyloidosis? Why is multiple myeloma not a leukemia? Does multiple myeloma cause confusion? Is multiple myeloma a blood or bone cancer? What is the life expectancy of a multiple myeloma patient?
Wildemann1 Abstract Background: Myelinoclastic diffuse sclerosis (MDS; also termed Schilder's disease) is a rare inflammatory demyelinating disorder of the central nervous system characterised by demyelination of vast areas of the white matter. It is unclear whether MDS is a variant of multiple ...
Myelodysplastic/myeloproliferative neoplasms (MDS/MPN) represent not a single disease, but a diverse collection of conditions, progressively categorized based on recurring genetic anomalies. Chromosomal translocations of meningioma 1 (MN1) and ETS variant 6 (ETV6) genes are exceedingly rare, but repeatedl...
Putative FBXO11 substrates are enriched for proteins with functions in RNA metabolism and, of note, spliceosome mutations that are commonly found in MDS/sAML are rare in patients with low FBXO11 expression. We also reveal that loss of FBXO11 leads to significant changes in transcriptional ...
Is Adult‐Onset Dystonia a Rare Disease? Time for Population‐Based Studies Adult-onset dystonia is considered a rare disease, a conclusion based on the relatively homogeneous low prevalence estimates provided by the majority of st... G Defazio,A Berardelli - 《Movement Disorders》 被引量: 0...
There is considerable variability within the LGMDs, with respect to age of onset, from early childhood to adulthood, severity of disease, and rate of progression among the different subtypes and even within the same family. Serum creatine kinase (CK) levels vary from normal to greatly elevated,...
Mitochondrial DNA (mtDNA)-depletion syndromes (MDS; OMIM 251880) are phenotypically heterogeneous, autosomal-recessive disorders characterized by tissue-sp... A Feigenbaum - 《Nature Genetics》 被引量: 216发表: 2001年 Familial tumoral calcinosis and testicular microlithiasis associated with a new mutatio...