T. Dijkhuizen

发表

A 649 kb microduplication in 1p34.1, including POMGNT1, in a patient with microcephaly, coloboma and laryngomalacia; and a review of the literature.

K. Kok, C. V. van Ravenswaaij-Arts, M. Boeve, 2009, European journal of medical genetics.

MYT1L is a candidate gene for intellectual disability in patients with 2p25.3 (2pter) deletions

C. V. van Ravenswaaij-Arts, E. Smeets, S. Stevens, 2011, American journal of medical genetics. Part A.

Copy number variation in a hospital‐based cohort of children with epilepsy

C. V. van Ravenswaaij-Arts, P. Rump, O. Brouwer, 2017, Epilepsia open.

FISH and array‐CGH analysis of a complex chromosome 3 aberration suggests that loss of CNTN4 and CRBN contributes to mental retardation in 3pter deletions

K. Kok, C. Buys, B. Sikkema-Raddatz, 2006, American journal of medical genetics. Part A.

Cytogenetic classification of renal cell cancer.

E. van den Berg, S. Störkel, T. Dijkhuizen, 1997, Cancer genetics and cytogenetics.

Characterization of human larynx carcinoma cell lines HLaC′79 and HLaC′82: a common origin but diverged malignancies

T. Dijkhuizen, A. M. Tomson, J. Scholma, 1995, Clinical & Experimental Metastasis.

Split hand/foot malformation due to chromosome 7q aberrations(SHFM1): additional support for functional haploinsufficiency as the causative mechanism

K. Kok, A. V. Silfhout, B. Sikkema-Raddatz, 2009, European Journal of Human Genetics.

Reinterpretation, reclassification, and its downstream effects: challenges for clinical laboratory geneticists

K. Lyle, I. V. van Langen, A. Lucassen, 2019, BMC Medical Genomics.

TAB2 deletions and variants cause a highly recognisable syndrome with mitral valve disease, cardiomyopathy, short stature and hypermobility

B. D. de Vries, M. P. van den Berg, Patrick Deelen, 2021, European Journal of Human Genetics.

Chromosome changes in a metastasis of a chromophobe renal cell tumor.

E. van den Berg, S. Störkel, T. Dijkhuizen, 1998, Cancer genetics and cytogenetics.

Copy-number gains of HUWE1 due to replication- and recombination-based rearrangements.

P. Marynen, T. Bose, M. Roselló, 2012, American journal of human genetics.

Central 22q11.2 deletions

N. de Leeuw, W. Reardon, D. Lev, 2014, American journal of medical genetics. Part A.

Drayer’s syndrome of mental retardation, microcephaly, short stature and absent phalanges is caused by a recurrent deletion of chromosome 15(q26.2→qter)

P. Rump, B. Sikkema-Raddatz, T. Dijkhuizen, 2008, Clinical genetics.

Segmental and total uniparental isodisomy (UPiD) as a disease mechanism in autosomal recessive lysosomal disorders: evidence from SNP arrays

L. Hoefsloot, J. Saris, D. Halley, 2019, European Journal of Human Genetics.

Distinct Xp11.2 breakpoints in two renal cell carcinomas exhibiting X;autosome translocations

E. van den Berg, S. Störkel, A. V. van Kessel, 1995, Genes, chromosomes & cancer.

Chromosomal abnormalities in azoospermic and non-azoospermic infertile men: numbers needed to be screened to prevent adverse pregnancy outcomes.

C. V. van Ravenswaaij-Arts, T. Dijkhuizen, J. Land, 2012, Human reproduction.

Molecular cytogenetic analysis of clustered sporadic and familial renal cell carcinoma-associated 3q13 q22 breakpoints

I. Janssen, M. Debiec‐Rychter, E. Schoenmakers, 2002 .

Clinical outcome of patients with previously untreated soft tissue sarcomas in relation to tumor grade, DNA ploidy and karyotype

E. van den Berg, W. Molenaar, H. Hoekstra, 1997, International journal of cancer.

Cytogenetic support for early malignant change in a diffuse neurofibroma not associated with neurofibromatosis.

E. van den Berg, H. Hoekstra, T. Dijkhuizen, 1997, Cancer genetics and cytogenetics.

Gene expression patterns and copy number changes in primary osteosarcoma

R. Hofstra, K. Kok, F. Gerbens, 2006 .

An 8.35 Mb overlapping interstitial deletion of 8q24 in two patients with coloboma, congenital heart defect, limb abnormalities, psychomotor retardation and convulsions.

N. de Leeuw, C. V. van Ravenswaaij-Arts, T. Dijkhuizen, 2009, European journal of medical genetics.

Fine mapping of the 1q21 breakpoint of the papillary renal cell carcinoma-associated (X;1) translocation

E. van den Berg, A. V. van Kessel, T. Dijkhuizen, 1996, Human Genetics.

Carcinoid in a horseshoe kidney. Morphology, immunohistochemistry, and cytogenetics.

E. van den Berg, A. Gouw, H. Mensink, 1995, Cancer genetics and cytogenetics.

Bilateral polymicrogyria as the indicative feature in a child with a 22q11.2 deletion.

L. Meiners, C. V. van Ravenswaaij-Arts, D. Sival, 2010, European journal of medical genetics.

The prevalence of chromosomal abnormalities in subgroups

T. Dijkhuizen, H. Groen, E. Dul, 2012 .

The prevalence of chromosomal abnormalities in subgroups of infertile men.

C. V. van Ravenswaaij-Arts, T. Dijkhuizen, J. Land, 2012, Human reproduction.

Intracranial teratoma with multiple fetuses: pre- and post-natal appearance.

C. Vermeij-Keers, T. Dijkhuizen, T. Cohen-Overbeek, 1995, Human pathology.

Social responsiveness scale-aided analysis of the clinical impact of copy number variations in autism

R. Hochstenbach, M. Poot, C. Kemner, 2011, neurogenetics.

Nine patients with a microdeletion 15q11.2 between breakpoints 1 and 2 of the Prader-Willi critical region, possibly associated with behavioural disturbances.

K. Kok, C. V. van Ravenswaaij-Arts, M. Breuning, 2009, European journal of medical genetics.

Cytogenetic analysis of a case of myxoid liposarcoma with cartilaginous differentiation.

E. van den Berg, H. Hoekstra, T. Dijkhuizen, 1996, Cancer genetics and cytogenetics.

Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes

B. V. van Bon, R. Pfundt, B. D. de Vries, 2010, Journal of Medical Genetics.

The phenotypic spectrum of terminal 6q deletions based on a large cohort derived from social media and literature: a prominent role for DLL1

C. V. van Ravenswaaij-Arts, T. Dijkhuizen, N. Corsten-Janssen, 2022, Orphanet Journal of Rare Diseases.

Identification of prognostic relevant chromosomal abnormalities in chronic lymphocytic leukemia using microarray-based genomic profiling

Annet Simons, Rolph Pfundt, R. Pfundt, 2014, Molecular Cytogenetics.

A substantial proportion of microsatellite‐unstable colon tumors carry TP53 mutations while not showing chromosomal instability

H. Hollema, R. Hofstra, K. Kok, 2005, Genes, chromosomes & cancer.

Balanced into array: genome-wide array analysis in 54 patients with an apparently balanced de novo chromosome rearrangement and a meta-analysis

A. Green, W. Reardon, E. Bongers, 2011, European Journal of Human Genetics.

A unique 970kb microdeletion in 9q33.3, including the NR5A1 gene in a 46,XY female.

C. V. van Ravenswaaij-Arts, B. Sikkema-Raddatz, T. Dijkhuizen, 2009, European journal of medical genetics.

Renal oncocytoma with t(5;12;11), der(1)t(1;8) and add(19): “true” oncocytoma or chromophobe adenoma?

E. van den Berg, A. Veen, E. Berg, 1997, International journal of cancer.

Structural and Functional Genomics of the CPT1B Gene for Muscle-type Carnitine Palmitoyltransferase I in Mammals*

P. Terpstra, P. A. Wood, N. Huijkman, 2002, The Journal of Biological Chemistry.

Tumor progression in a giant cell type malignant fibrous histiocytoma of bone: Clinical, radiologic, histologic, and cytogenetic evidence

E. D. de Vries, W. Molenaar, E. Berg, 1994, Genes, chromosomes & cancer.

An interstitial duplication of chromosome 13q31.3q32.1 further delineates the critical region for postaxial polydactyly type A2.

C. V. van Ravenswaaij-Arts, T. Dijkhuizen, P. A. van der Zwaag, 2010, European journal of medical genetics.

Genetics as a diagnostic tool in sarcomatoid renal‐cell cancer

E. van den Berg, C. Buys, T. Dijkhuizen, 1997, International journal of cancer.

Chromosomal findings and p53‐mutation analysis in chromophilic renal‐cell carcinomas

E. van den Berg, W. Henn, T. Dijkhuizen, 1996, International journal of cancer.

Loss of heterozygosity at the short arm of chromosome 3 in renal‐cell cancer correlates with the cytological tumour type

C. Buys, T. Dijkhuizen, J. Oosterhuis, 1993, International journal of cancer.

Cytogenetic analysis of epithelial renal‐cell tumors: Relationship with a new histopathological classification

E. van den Berg, H. Mensink, C. Buys, 1993, International journal of cancer.

Different homing pattern of isolated mouse lymphoma cells correlates with a different chromosomal pattern.

W. Molenaar, W. Lemstra, T. Dijkhuizen, 1989, Cancer genetics and cytogenetics.

Diagnostic interpretation of array data using public databases and internet sources

L. Feuk, N. Carter, N. de Leeuw, 2012, Human mutation.

Cytogenetics of a case of eccrine spiradenoma.

E. van den Berg, H. Hoekstra, P. Nikkels, 1992, Human pathology.

phenotypes microduplications that show distinctive co-locating 17 p 13 . 3 microdeletions and Further molecular and clinical delineation of

R. Pfundt, C. Martin, A. Wallin, 2022 .

Practical guidelines for interpreting copy number gains detected by high-resolution array in routine diagnostics

K. Kok, R. Sinke, A. Essen, 2011, European Journal of Human Genetics.

Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature

S. Antonarakis, S. Gimelli, F. Béna, 2013, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

The phenotypic spectrum of terminal and subterminal 6p deletions based on a social media-derived cohort and literature review

M. Swertz, C. V. van Ravenswaaij-Arts, T. Dijkhuizen, 2022, Orphanet Journal of Rare Diseases.

The phenotypic spectrum of proximal 6q deletions based on a large cohort derived from social media and literature reports

M. Swertz, C. V. van Ravenswaaij-Arts, A. D. den Ouden, 2018, European Journal of Human Genetics.

The phenotypic spectrum of proximal 6q deletions based on a large cohort derived from social media and literature reports

M. Swertz, C. V. van Ravenswaaij-Arts, A. D. den Ouden, 2018, European Journal of Human Genetics.

The phenotypic spectrum of proximal 6 q deletions based on a large cohort derived from social media and literature

M. Swertz, T. Dijkhuizen, B. Flapper, 2018 .

N. de Leeuw, C. V. van Ravenswaaij-Arts, C. Ruivenkamp, 2019, European journal of medical genetics.

Novel GAA Variants and Mosaicism in Pompe Disease Identified by Extended Analyses of Patients with an Incomplete DNA Diagnosis

L. Hoefsloot, J. Saris, A. de Klein, 2020, Molecular therapy. Methods & clinical development.

Cytogenetics of a case of cardiac myxoma.

E. van den Berg, T. Dijkhuizen, J. Meuzelaar, 1992, Cancer genetics and cytogenetics.

Rearrangements involving 12p12 in two cases of cardiac myxoma.

E. van den Berg, T. Dijkhuizen, J. Meuzelaar, 1995, Cancer genetics and cytogenetics.

Fine mapping of the human renal oncocytoma-associated translocation (5;11)(q35;q13) breakpoint.

E. van den Berg, D. Weghuis, R. Sinke, 1997, Cancer genetics and cytogenetics.

Involvement of the chromosomal region 11q13 in renal oncocytoma: case report and literature review.

E. van den Berg, M. Stöckle, C. Neuhaus, 1997, Cancer genetics and cytogenetics.

Germline hypermethylation of MLH1 and EPCAM deletions are a frequent cause of Lynch syndrome

H. Hollema, R. Hofstra, M. Ligtenberg, 2009, Genes, chromosomes & cancer.

Translocations involving 6p22 in acute myeloid leukaemia at relapse: breakpoint characterization using microarray‐based comparative genomic hybridization

J. Tchinda, K. Kok, P. Vlies, 2004, British journal of haematology.

Application of a comprehensive subtelomere array in clinical diagnosis of mental retardation.

K. Kok, R. Fehrmann, G. T. te Meerman, 2005, European journal of medical genetics.

The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome: report on two patients and review of the literature.

I. Lerer, B. Sikkema-Raddatz, T. Dijkhuizen, 2009, European journal of medical genetics.

Increased Recurrence Risk in Phelan-McDermid (22q13.3 Deletion) Syndrome: the Importance of FISH Demonstrated by a Case Series of Five Families

S. Nampoothiri, M. Willemsen, T. Dijkhuizen, 2018, OBM Genetics.

Analysis of multiple renal cell adenomas and carcinomas suggests allelic loss at 3p21 to be a prerequisite for malignant development

E. van den Berg, E. Maher, C. Buys, 1997, Genes, chromosomes & cancer.

Molecular cytogenetic analysis of clustered sporadic and familial renal cell carcinoma-associated 3q13 approximately q22 breakpoints.

E. van den Berg, I. Janssen, A. V. van Kessel, 2002, Cancer genetics and cytogenetics.

Chromosomal changes in renal oncocytomas. Evidence that t(5;11)(q35;q13) may characterize a second subgroup of oncocytomas.

E. van den Berg, H. Mensink, E. Berg, 1995, Cancer genetics and cytogenetics.

A live‐born child with a mosaic chromosomal pattern of either monosomy 21 or trisomy 4 in different embryonal germ layers

B. Sikkema-Raddatz, T. Dijkhuizen, K. van Spaendonck-Zwarts, 2010, Prenatal Diagnosis.

Two cases of renal cell carcinoma, clear cell type, revealing a t(6;11)(p21;q13)

E. Berg, T. Dijkhuizen, B. Janssen, 1996 .

Cytogenetics as a tool in the histologic subclassification of chondrosarcomas.

E. van den Berg, T. Dijkhuizen, J. Oosterhuis, 1994, Cancer genetics and cytogenetics.

Chromosomal abnormalities in non-neoplastic renal tissue.

E. van den Berg, E. Berg, T. Dijkhuizen, 1995, Cancer genetics and cytogenetics.

Identification of prognostic relevant chromosomal abnormalities in chronic lymphocytic leukemia using microarray-based genomic profiling

R. Pfundt, D. Weghuis, A. Simons, 2014, Molecular Cytogenetics.

Uncombable hair syndrome due to maternal uniparental disomy of chromosome 1

T. Dijkhuizen, Y. Vos, M. Bolling, 2022, American journal of medical genetics. Part A.

Pathogenesis of renal cell tumors: A (cyto)-genetic model

E. Berg, T. Dijkhuizen, B. Jong, 1996 .

Bilateral polymicrogyria as the indicative feature in a child with a 22q11.2 deletion.

L. Meiners, C. V. van Ravenswaaij-Arts, D. Sival, 2010, European journal of medical genetics.

Comparison of cytogenetic abnormalities and deoxyribonucleic acid ploidy of benign, borderline malignant, and different grades of malignant soft tissue tumors.

E. van den Berg, H. Hoekstra, T. Dijkhuizen, 1994, Laboratory investigation; a journal of technical methods and pathology.

Cytogenetic analysis of murine embryo-derived tumors.

T. Dijkhuizen, J. Oosterhuis, B. de Jong, 1990, Cancer research.

Cytogenetic Analysis of Murine Embryo-derived Tumors1

T. Dijkhuizen, J. Oosterhuis, A. Dam, 2006 .

No cytogenetic evidence for involvement of gene(s) at 2p16 in sporadic cardiac myxomas: cytogenetic changes in ten sporadic cardiac myxomas.

E. van den Berg, T. Dijkhuizen, J. Meuzelaar, 2001, Cancer genetics and cytogenetics.

N. de Leeuw, C. V. van Ravenswaaij-Arts, C. Ruivenkamp, 2019, European journal of medical genetics.

Distinct features for chromophilic renal cell cancer with Xp11.2 breakpoints.

E. van den Berg, T. Dijkhuizen, H. Bürger, 1998, Cancer genetics and cytogenetics.