30 Result(s)

Article

Germline activating TYK2 mutations in pediatric patients with two primary acute lymphoblastic leukemia occurrences

The contribution of genetic predisposing factors to the development of pediatric acute lymphoblastic leukemia (ALL), the most frequently diagnosed cancer in childhood, has not been fully elucidated. Children p...

E Waanders, B Scheijen, M C J Jongmans, H Venselaar, S V van Reijmersdal… in Leukemia (2017)

Article

Integrated use of minimal residual disease classification and IKZF1 alteration status accurately predicts 79% of relapses in pediatric acute lymphoblastic leukemia

Response to therapy as determined by minimal residual disease (MRD) is currently used for stratification in treatment protocols for pediatric acute lymphoblastic leukemia (ALL). However, the large MRD-based me...

E Waanders, V H J van der Velden, C E van der Schoot, F N van Leeuwen… in Leukemia (2011)

Article

TET2 mutations in childhood leukemia

S M C Langemeijer, J H Jansen, J Hooijer, P van Hoogen, E Stevens-Linders… in Leukemia (2011)

Article

IKZF1 deletions predict relapse in uniformly treated pediatric precursor B-ALL

Relapse is the most common cause of treatment failure in pediatric acute lymphoblastic leukemia (ALL) and is often difficult to predict. To explore the prognostic impact of recurrent DNA copy number abnormalit...

R P Kuiper, E Waanders, V H J van der Velden, S V van Reijmersdal… in Leukemia (2010)

Article

Novel RUNX1 mutations in familial platelet disorder with enhanced risk for acute myeloid leukemia: clues for improved identification of the FPD/AML syndrome

M C J Jongmans, R P Kuiper, C L Carmichael, E J Wilkins, N Dors, A Carmagnac… in Leukemia (2010)

Article

CNTNAP2 gene dosage variation is associated with schizophrenia and epilepsy

A homozygous mutation of the CNTNAP2 gene has been associated with a syndrome of focal epilepsy, mental retardation, language regression and other neuropsychiatric problems in children of the Old Order Amish comm...

J I Friedman, T Vrijenhoek, S Markx, I M Janssen, W A van der Vliet… in Molecular Psychiatry (2008)

Article

The C terminus of the synovial sarcoma-associated SSX proteins interacts with the LIM homeobox protein LHX4

As a result of the synovial sarcoma-associated t(X;18) translocation, the SS18 gene on chromosome 18 is fused to either one of the three closely related SSX genes on the X chromosome. The SS18 protein is thought ...

D R H de Bruijn, A H A van Dijk, M P Willemse, A Geurts van Kessel in Oncogene (2008)

Article

High-resolution genomic profiling of childhood ALL reveals novel recurrent genetic lesions affecting pathways involved in lymphocyte differentiation and cell cycle progression

Gross cytogenetic anomalies are traditionally being used as diagnostic, prognostic and therapeutic markers in the clinical management of cancer, including childhood acute lymphoblastic leukemia (ALL). Recently...

R P Kuiper, E F P M Schoenmakers, S V van Reijmersdal, J Y Hehir-Kwa… in Leukemia (2007)

Article

Identification of truncated RUNX1 and RUNX1-PRDM16 fusion transcripts in a case of t(1;21)(p36;q22)-positive therapy-related AML

M-J P L Stevens-Kroef, E F P M Schoenmakers, M van Kraaij, E Huys, S Vermeulen… in Leukemia (2006)

Article

Translocation t(2;3)(p15–23;q26–27) in myeloid malignancies: report of 21 new cases, clinical, cytogenetic and molecular genetic features

Chromosomal rearrangements involving 3q26 either due to inversion or translocation with various partner chromosomes are a recurrent finding in malignant myeloid disorders. Typically, these chromosome aberratio...

M Stevens-Kroef, B Poppe, S van Zelderen-Bhola, E van den Berg… in Leukemia (2004)

Article

The synovial sarcoma associated protein SYT interacts with the acute leukemia associated protein AF10

As a result of the synovial sarcoma associated t(X;18) translocation, the human SYT gene on chromosome 18 is fused to either the SSX1 or the SSX2 gene on the X chromosome. Although preliminary evidence indicates ...

D R H de Bruijn, N R dos Santos, J Thijssen, M Balemans, S Debernardi, B Linder… in Oncogene (2001)

Article

Chromosomal localization of three human genes encoding members of the TGF-β superfamily of type I serine/threonine kinase receptors

E. Röijer, K. Miyazono, A. -K. Åström, A. Geurts van Kessel… in Mammalian Genome (1998)

Article

Survival in first or second remission after lymphocyte-depleted transplantation for Philadelphia chromosome-positive CML in first chronic phase

We studied the outcome of BMT in 38 consecutive CML patients in CP1 who received transplants depleted of lymphocytes using counterflow centrifugation. In all patients the conditioning regimen was intensified b...

A Schattenberg, F Preijers, E Mensink, B Bär, N Schaap… in Bone Marrow Transplantation (1997)

Article

Exclusion of the phosphatidylinositol-specific phospholipase C β3 (PLC β3) gene as candidate for the multiple endocrine neoplasia type 1 (MEN 1) gene

Multiple endocrine neoplasia type 1 (MEN 1) is inherited as an autosomal dominant disorder, characterized by hyperplasia and neoplasia in several endocrine organs. The MEN 1 gene, which is most probably a tum...

Mireille J. de Wit, Rudy M. Landsvater, Richard J. Sinke… in Human Genetics (1996)

Article

A long-lasting, complete hematologic and cytogenetic remission of chronic myelogenous leukemia after treatment with busulfan alone

 A 44-year-old man suffering from cytogenetically and molecularly proven Philadelphia translocation-positive chronic myelogenous leukemia in chronic phase was treated with busulfan for 18 months and studied du...

C. M. P. W. Mandigers, E. J. B. M. Mensink, A. Geurts van Kessel… in Annals of Hematology (1996)

Chapter and Conference Paper

Chromosome 12 Aberrations in Human Germ Cell Tumors: A Fluorescence In Situ Hybridization Inventory

Human germ cell tumors (GCTs) consist of a heterogeneous group of solid neoplasms occurring in the testis, the ovary, and several extragonadal sites (Mostofi and Price 1973; Scully 1979; Gonzales-Crussi 1982)....

R. F. Suijkerbuijk, R. J. Sinke… in Chromosome 12 Aberrations in Human Solid T… (1994)

Article

Localization of X chromosome short arm markers relative to synovial sarcoma- and renal adenocarcinoma-associated translocation breakpoints

A series of thirteen different DNA markers was mapped relative to papillary renal cell carcinoma- and synovial sarcoma-associated translocation breakpoints in Xp11.2 using a panel of tumor-derived somatic cell...

R. J. Sinke, B. de Leeuw, H. A. P. Janssen, D. Olde Weghuis… in Human Genetics (1993)