[PDF][PDF] The 5q-syndrome

J Boultwood, S Lewis, JS Wainscoat - 1994 - researchgate.net
T HE 5q-SYNDROME was first described by Van den Berghe et al'in 1974 in three patients
with refractory anemia and an interstitial deletion of the long arm of chromosome 5. This …

Gene silencing by DNA methylation in haematological malignancies

J Boultwood, JS Wainscoat - British journal of haematology, 2007 - Wiley Online Library
The past decade has seen an explosion of interest in the epigenetics of cancer, with an
increasing understanding that this form of genomic modification plays a critical role in …

Detection of elevated levels of tumour‐associated microRNAs in serum of patients with diffuse large B‐cell lymphoma

CH Lawrie, S Gal, HM Dunlop… - British journal of …, 2008 - Wiley Online Library
Circulating nucleic acids have been shown to have potential as non‐invasive diagnostic
markers in cancer. We therefore investigated whether microRNAs also have diagnostic utility …

[PDF][PDF] Quantitative analysis of fetal DNA in maternal plasma and serum: implications for noninvasive prenatal diagnosis

YMD Lo, MSC Tein, TK Lau, CJ Haines… - The American Journal of …, 1998 - cell.com
We have developed a real-time quantitative PCR assay to measure the concentration of fetal
DNA in maternal plasma and serum. Our results show that fetal DNA is present in high …

[HTML][HTML] Somatic SF3B1 Mutation in Myelodysplasia with Ring Sideroblasts

E Papaemmanuil, M Cazzola… - … England Journal of …, 2011 - Mass Medical Soc
Background Myelodysplastic syndromes are a diverse and common group of chronic
hematologic cancers. The identification of new genetic lesions could facilitate new …

Advances in the 5q− syndrome

J Boultwood, A Pellagatti, ANJ McKenzie… - Blood, The Journal …, 2010 - ashpublications.org
The 5q− syndrome is the most distinct of all the myelodysplastic syndromes with a clear
genotype/phenotype relationship. The significant progress made during recent years has …

Presence of fetal DNA in maternal plasma and serum

YMD Lo, N Corbetta, PF Chamberlain, V Rai… - The lancet, 1997 - thelancet.com
Background The potential use of plasma and serum for molecular diagnosis has generated
interest. Tumour DNA has been found in the plasma and serum of cancer patients, and …

[HTML][HTML] Prenatal diagnosis of fetal RhD status by molecular analysis of maternal plasma

YMD Lo, NM Hjelm, C Fidler, IL Sargent… - … England Journal of …, 1998 - Mass Medical Soc
Background The ability to determine fetal RhD status noninvasively is useful in the treatment
of RhD-sensitized pregnant women whose partners are heterozygous for the RhD gene. The …

Clinical significance of SF3B1 mutations in myelodysplastic syndromes and myelodysplastic/myeloproliferative neoplasms

L Malcovati, E Papaemmanuil… - Blood, The Journal …, 2011 - ashpublications.org
In a previous study, we identified somatic mutations of SF3B1, a gene encoding a core
component of RNA splicing machinery, in patients with myelodysplastic syndrome (MDS) …

MicroRNA expression distinguishes between germinal center B cell‐like and activated B cell‐like subtypes of diffuse large B cell lymphoma

CH Lawrie, S Soneji, T Marafioti… - … journal of cancer, 2007 - Wiley Online Library
Diffuse large B cell lymphoma (DLBCL) is an aggressive malignancy that accounts for nearly
40% of all lymphoid tumors. This heterogeneous disease can be divided into germinal …