Search Results - "Suijkerbuijk, Ron F."
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Trial by Dutch laboratories for evaluation of non-invasive prenatal testing. Part I-clinical impact
Published in Prenatal diagnosis (01-12-2016)“…Objective To evaluate the clinical impact of nationwide implementation of genome‐wide non‐invasive prenatal testing (NIPT) in pregnancies at increased risk for…”
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A child with complementary mosaic trisomy 8 and mosaic trisomy 21; clinical description of Warkany-Down syndrome and mechanism of origin
Published in European journal of medical genetics (01-06-2020)“…Aneuploidy mosaicism involving two complementary different autosomal trisomy cell lines is extremely rare. Although a mosaic double trisomy 8/trisomy 21 has…”
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NIPTRIC: an online tool for clinical interpretation of non-invasive prenatal testing (NIPT) results
Published in Scientific reports (05-12-2016)“…To properly interpret the result of a pregnant woman’s non-invasive prenatal test (NIPT), her a priori risk must be taken into account in order to obtain her…”
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Successful noninvasive trisomy 18 detection using single molecule sequencing
Published in Clinical chemistry (Baltimore, Md.) (01-04-2013)“…Noninvasive trisomy 21 detection performed by use of massively parallel sequencing is achievable with high diagnostic sensitivity and low false-positive rates…”
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Reviews of chromosome studies in urological tumors. III. Cytogenetics and genes in testicular tumors
Published in The Journal of urology (01-05-1996)“…We reviewed available cytogenetic and molecular findings in testicular germ cell tumors, and their possible application to clinical, pathological and basic…”
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6
Complex composition and co-amplification of SAS and MDM2 in ring and giant rod marker chromosomes in well-differentiated liposarcoma
Published in Genes chromosomes & cancer (01-06-1994)“…Extra abnormal chromosomes (rings and giant rods) containing chromosome 12 sequences are characteristic of well-differentiated liposarcoma (WDLPS). By whole…”
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7
Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing: Follow-up results of the TRIDENT-2 study
Published in American journal of human genetics (02-06-2022)“…In the TRIDENT-2 study, all pregnant women in the Netherlands are offered genome-wide non-invasive prenatal testing (GW-NIPT) with a choice of receiving either…”
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Detection of chromosomal DNA gains and losses in testicular germ cell tumors by comparative genomic hybridization
Published in Genes chromosomes & cancer (01-10-1996)“…To extend the results of conventional cytogenetic analysis of testicular germ cell tumors (TGCTs), we applied the new molecular cytogenetic method of…”
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Chromosomes 1 and 12 abnormalities in pediatric germ cell tumors by interphase fluorescence in situ hybridization
Published in Cancer genetics and cytogenetics (01-03-2001)“…Chromosome studies of pediatric germ cell tumors (GCTs) show differences in abnormalities dependent on age, sex, tumor location, and histology. Previous…”
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Involvement of 3q21 in Nodular Fasciitis
Published in Cancer genetics and cytogenetics (15-10-1998)“…Cytogenetic data on nodular fasciitis are sparse. We present a case of this lesion and discuss our results in view of previously reported findings in nodular…”
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Increasing levels of MYC and MET co-amplification during tumor progression of a case of gastric cancer
Published in Cancer genetics and cytogenetics (15-07-1995)“…The cytogenetic study of a nodal metastasis from a gastric carcinoma, after two passages in nude mice, revealed a large number of double minutes. Comparative…”
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12
Cloning and Characterization of DXS6673E, a Candidate Gene for X-linked Mental Retardation in Xq13.1
Published in Human molecular genetics (01-07-1996)“…In several families with non-specific X-linked mental retardation (XLMR) linkage analyses have assigned the underlying gene defect to the pericentromeric…”
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13
Fluorescence in situ hybridization analysis of chromosome 12 anomalies in semen cells from patients with carcinoma in situ of the testis
Published in The Journal of pathology (01-11-1998)“…Carcinoma in situ (CIS) of the testis is the precursor of seminomas and non‐seminomatous germ cell tumours of the adult testis. A marked cytogenetic anomaly,…”
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14
Genetic reflection of glioblastoma biopsy material in xenografts : characterization of 11 glioblastoma xenograft lines by comparative genomic hybridization
Published in Journal of neurosurgery (01-04-2000)“…Human tumors implanted as subcutaneous xenografts in nude mice are widely used for the study of tumor biology and therapy. Validation of these models requires…”
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15
Fluorescencein situ hybridization analysis of chromosome 12 anomalies in semen cells from patients with carcinomain situ of the testis
Published in The Journal of pathology (01-11-1998)Get full text
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16
Comparative genomic hybridization as a tool to define two distinct chromosome 12-derived amplification units in well-differentiated liposarcomas
Published in Genes chromosomes & cancer (01-04-1994)“…Well-differentiated liposarcomas (WDLPS) are frequently characterized by a near-diploid karyotype with supernumerary ring and/or giant rod-shaped marker…”
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17
Isochromosome 12p-positive pineal germ cell tumor
Published in Cancer research (Chicago, Ill.) (15-03-1994)“…We report the chromosomal characteristics of a recurrent pineal non-seminomatous germ cell tumor in a 16-year-old male patient. This non-seminomatous tumor had…”
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18
Detection of numerical alterations for chromosomes 7 and 12 in benign thyroid lesions by in situ hybridization. Histological implications
Published in The American journal of pathology (01-07-1995)“…Polysomies of chromosomes 7 and 12 have been frequently observed by conventional cytogenetics in a subgroup of thyroid follicular adenomas and in some cases of…”
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Isolation of osteosarcoma-associated amplified DNA sequences using representational difference analysis
Published in Genes chromosomes & cancer (01-10-1997)“…Comparative genomic hybridization analysis of a primary osteosarcoma and its metastasis revealed two regions of DNA amplification, one at 17p11.2‐12 and one at…”
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Fluorescent in situ identification of human marker chromosomes using flow sorting and Alu element-mediated PCR
Published in Genomics (San Diego, Calif.) (01-06-1992)“…A novel approach to the identification of human chromosomes has been developed. Chromosomal in situ hybridization (or "chromosome painting") has been performed…”
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