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 …

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 …

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 …

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 …

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 …

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 …

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 …

Joint segmentation, calling, and normalization of multiple CGH profiles

F Picard, E Lebarbier, M Hoebeke, G Rigaill… - …, 2011 - academic.oup.com
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 …

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 …

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 & …