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- Publications
- Influence
Common variants at 2q37.3, 8q24.21, 15q21.3, and 16q24.1 influence chronic lymphocytic leukemia risk
- Dalemari Crowther-Swanepoel, P. Broderick, +32 authors R. Houlston
- Biology, Medicine
- Nature Genetics
- 10 January 2010
To identify new risk variants for chronic lymphocytic leukemia (CLL), we conducted a genome-wide association study of 299,983 tagging SNPs, with validation in four additional series totaling 2,503… Expand
Screening for copy‐number alterations and loss of heterozygosity in chronic lymphocytic leukemia—A comparative study of four differently designed, high resolution microarray platforms
- R. Gunnarsson, J. Staaf, +14 authors R. Rosenquist
- Biology, Medicine
- Genes, chromosomes & cancer
- 1 August 2008
Screening for gene copy‐number alterations (CNAs) has improved by applying genome‐wide microarrays, where SNP arrays also allow analysis of loss of heterozygozity (LOH). We here analyzed 10 chronic… Expand
Loss of ZDHHC15 expression in a woman with a balanced translocation t(X;15)(q13.3;cen) and severe mental retardation
- M. Mansouri, L. Marklund, +6 authors N. Dahl
- Biology, Medicine
- European Journal of Human Genetics
- 1 August 2005
X-linked mental retardation (XLMR) affects one in 600 males and is highly heterogeneous. We describe here a 29-year-old woman with severe nonsyndromic mental retardation and a balanced reciprocal… Expand
Alterations in the expression, structure and function of progesterone receptor membrane component-1 (PGRMC1) in premature ovarian failure.
- M. Mansouri, J. Schuster, +11 authors N. Dahl
- Biology, Medicine
- Human molecular genetics
- 1 December 2008
Premature ovarian failure (POF) is characterized by hypergonadotropic hypogonadism and amenorrhea before the age of 40. The condition has a heterogeneous background but genetic factors are… Expand
High-density screening reveals a different spectrum of genomic aberrations in chronic lymphocytic leukemia patients with ‘stereotyped’ IGHV3-21 and IGHV4-34 B-cell receptors
- Millaray Marincevic, N. Cahill, +13 authors R. Rosenquist
- Biology, Medicine
- Haematologica
- 26 April 2010
Background The existence of multiple subsets of chronic lymphocytic leukemia expressing ‘stereotyped’ B-cell receptors implies the involvement of antigen(s) in leukemogenesis. Studies also indicate… Expand
High‐resolution genomic screening in mantle cell lymphoma—specific changes correlate with genomic complexity, the proliferation signature and survival
- A. M. Halldórsdóttir, B. Sander, +5 authors H. Ehrencrona
- Biology, Medicine
- Genes, chromosomes & cancer
- 1 February 2011
Mantle cell lymphoma (MCL) is characterized by the t(11;14)(q13;q32) and numerous copy number aberrations (CNAs). Recently, gene expression profiling defined a proliferation gene expression signature… Expand
Verification that common variation at 2q37.1, 6p25.3, 11q24.1, 15q23, and 19q13.32 influences chronic lymphocytic leukaemia risk
- Dalemari Crowther-Swanepoel, M. Mansouri, +11 authors R. Houlston
- Medicine
- British journal of haematology
- 1 August 2010
A recent genome wide association study of chronic lymphocytic leukaemia (CLL) provided evidence that common variation at 2q13 (rs17483466), 2q37.1 (rs13397985), 6p25.3 (rs872071), 11q24.1 (rs735665),… Expand
Distinct gene expression profiles in subsets of chronic lymphocytic leukemia expressing stereotyped IGHV4-34 B-cell receptors
- Millaray Marincevic, M. Mansouri, +8 authors R. Rosenquist
- Biology, Medicine
- Haematologica
- 1 December 2010
Background Numerous subsets of patients with chronic lymphocytic leukemia display similar immunoglobulin gene usage with almost identical complementarity determining region 3 sequences. Among… Expand
Screening for copy number alterations in loci associated with autism spectrum disorders by two‐color multiplex ligation‐dependent probe amplification
- A. Bremer, M. Giacobini, +5 authors J. Schoumans
- Biology, Medicine
- American journal of medical genetics. Part B…
- 24 March 2009
The autism spectrum disorder (ASD) is a heterogenous condition characterized by impaired socialization and communication in association with stereotypic behaviors. ASD is highly heritable and… Expand
Lack of association between the MDM2 promoter polymorphism SNP309 and clinical outcome in chronic lymphocytic leukemia.
- M. A. Kaderi, M. Mansouri, +11 authors R. Rosenquist
- Biology, Medicine
- Leukemia research
- 1 March 2010
The 309T>G polymorphism in the promoter region of the MDM2 gene, known as SNP309, has recently been suggested as an unfavorable prognostic marker in chronic lymphocytic leukemia (CLL) although this… Expand