Frequent pathway mutations of splicing machinery in myelodysplasia
K Yoshida, M Sanada, Y Shiraishi, D Nowak, Y Nagata… - Nature, 2011 - nature.com
Myelodysplastic syndromes and related disorders (myelodysplasia) are a heterogeneous
group of myeloid neoplasms showing deregulated blood cell production with evidence of …
group of myeloid neoplasms showing deregulated blood cell production with evidence of …
Genetic variegation of clonal architecture and propagating cells in leukaemia
K Anderson, C Lutz, FW Van Delft, CM Bateman, Y Guo… - Nature, 2011 - nature.com
Little is known of the genetic architecture of cancer at the subclonal and single-cell level or
in the cells responsible for cancer clone maintenance and propagation. Here we have …
in the cells responsible for cancer clone maintenance and propagation. Here we have …
Oncogenic mutations of ALK in neuroblastoma
S Ogawa, J Takita, M Sanada, Y Hayashi - Cancer science, 2011 - Wiley Online Library
Neuroblastoma is one of the most common solid cancers among children. Prognosis of
advanced neuroblastoma is still poor despite the recent advances in chemo/radiotherapies …
advanced neuroblastoma is still poor despite the recent advances in chemo/radiotherapies …
Copy number variations on chromosome 12q14 in patients with normal tension glaucoma
JH Fingert, AL Robin, JL Stone, BR Roos… - Human molecular …, 2011 - academic.oup.com
We report identification of a novel genetic locus (GLC1P) for normal tension glaucoma
(NTG) on chromosome 12q14 using linkage studies of an African-American pedigree …
(NTG) on chromosome 12q14 using linkage studies of an African-American pedigree …
Frequent loss of HLA alleles associated with copy number-neutral 6pLOH in acquired aplastic anemia
T Katagiri, A Sato-Otsubo, K Kashiwase… - Blood, The Journal …, 2011 - ashpublications.org
Idiopathic aplastic anemia (AA) is a common cause of acquired BM failure. Although
autoimmunity to hematopoietic progenitors is thought to be responsible for its pathogenesis …
autoimmunity to hematopoietic progenitors is thought to be responsible for its pathogenesis …
Chromosome 1p21. 3 microdeletions comprising DPYD and MIR137 are associated with intellectual disability
MH Willemsen, A Vallès, LAMH Kirkels… - Journal of medical …, 2011 - jmg.bmj.com
Background MicroRNAs (miRNAs) are non-coding gene transcripts involved in post-
transcriptional regulation of genes. Recent studies identified miRNAs as important …
transcriptional regulation of genes. Recent studies identified miRNAs as important …
SNP array–based karyotyping: differences and similarities between aplastic anemia and hypocellular myelodysplastic syndromes
MG Afable, M Wlodarski, H Makishima… - Blood, The Journal …, 2011 - ashpublications.org
In aplastic anemia (AA), contraction of the stem cell pool may result in oligoclonality, while in
myelodysplastic syndromes (MDS) a single hematopoietic clone often characterized by …
myelodysplastic syndromes (MDS) a single hematopoietic clone often characterized by …
Joint segmentation, calling, and normalization of multiple CGH profiles
The statistical analysis of array comparative genomic hybridization (CGH) data has now
shifted to the joint assessment of copy number variations at the cohort level. Considering …
shifted to the joint assessment of copy number variations at the cohort level. Considering …
Microdeletions and microduplications in patients with congenital heart disease and multiple congenital anomalies
E Goldmuntz, P Paluru, J Glessner… - Congenital heart …, 2011 - Wiley Online Library
Objective. Multiple genetic syndromes are caused by recurrent chromosomal microdeletions
or microduplications. The increasing use of high‐resolution microarrays in clinical analysis …
or microduplications. The increasing use of high‐resolution microarrays in clinical analysis …
Intragenic deletion in DYRK1A leads to mental retardation and primary microcephaly.
BWM Van Bon, A Hoischen, J Hehir-Kwa… - Clinical …, 2011 - search.ebscohost.com
Intragenic deletion in DYRK1A leads to mental retardation and primary microcephaly Page 1
Clin Genet 2011: 79: 296–299 Printed in Singapore. All rights reserved © 2011 John Wiley & …
Clin Genet 2011: 79: 296–299 Printed in Singapore. All rights reserved © 2011 John Wiley & …