J. Knijnenburg

发表

Array-CGH detection of micro rearrangements in mentally retarded individuals: clinical significance of imbalances present both in affected children and normal parents

N. Carter, H. Fiegler, H. Tanke, 2005, Journal of Medical Genetics.

A 600 kb triplication in the cat eye syndrome critical region causes anorectal, renal and preauricular anomalies in a three-generation family

H. Beverloo, L. Hulsman, L. Zutven, 2012, European Journal of Human Genetics.

Prenatal SNP array testing in 1000 fetuses with ultrasound anomalies: causative, unexpected and susceptibility CNVs

M. Knapen, J. Knijnenburg, R. Galjaard, 2015, European Journal of Human Genetics.

A 17q21.31 microdeletion encompassing the MAPT gene in a mentally impaired patient

C. Rosenberg, J. Knijnenburg, A. Krepischi-Santos, 2006, Cytogenetic and Genome Research.

Chromosome abnormalities in two patients with features of autosomal dominant Robinow syndrome

I. Kerkis, J. Mazzeu, A. Vianna-Morgante, 2007, American journal of medical genetics. Part A.

Does parosteal liposarcoma differ from other atypical lipomatous tumors/well-differentiated liposarcomas? A molecular cytogenetic study using combined multicolor COBRA-FISH karyotyping and array-based comparative genomic hybridization.

H. Tanke, A. D. De Schepper, P. Hogendoorn, 2007, Cancer genetics and cytogenetics.

Multicolor fluorescence in situ hybridization analysis of a synovial sarcoma of the larynx with a t(X;18)(p11.2;q11.2) and trisomies 2 and 8.

H. Tanke, P. Hogendoorn, R. J. Baatenburg de Jong, 2004, Cancer genetics and cytogenetics.

Postzygotic telomere capture causes segmental UPD, duplication and deletion of chromosome 8p in a patient with intellectual disability and obesity.

A. de Klein, B. Eussen, J. Knijnenburg, 2017, European journal of medical genetics.

C-terminal BRE overexpression in 11q23-rearranged and t(8;16) acute myeloid leukemia is caused by intragenic transcription initiation

H. Stunnenberg, M. Fornerod, M. Yaspo, 2018, Leukemia.

Expanding the HPSE2 Genotypic Spectrum in Urofacial Syndrome, A Disease Featuring a Peripheral Neuropathy of the Urinary Bladder

E. A. McKenzie, W. Newman, W. Yue, 2022, Frontiers in Genetics.

Reclassification of a likely pathogenic Dutch founder variant in KCNH2; implications of reduced penetrance

T. Koopmann, C. Bezzina, A. Wilde, 2022, bioRxiv.

Hearing loss, cleft palate, and congenital hip dysplasia in female carriers of an intragenic deletion of AMMECR1

M. Haak, J. Knijnenburg, M. Hoffer, 2022, American journal of medical genetics. Part A.

Novel gene rearrangements in transformed breast cells identified by high-resolution breakpoint analysis of chromosomal aberrations.

A. Walch, J. Wienberg, M. Ferguson-Smith, 2010, Endocrine-related cancer.

Comparison of four genome wide platforms using four overlapping interstitial 2p alterations

J. T. Dunnen, M. Genuardi, E. Lucci-Cordisco, 2007 .

Optimized amplification and fluorescent labeling of small cell samples for genomic array‐CGH

H. Tanke, J. Knijnenburg, K. Szuhai, 2007, Cytometry. Part A : the journal of the International Society for Analytical Cytology.

Ring chromosome formation as a novel escape mechanism in patients with inverted duplication and terminal deletion

H. Tanke, A. Haeringen, E. Bakker, 2007, European Journal of Human Genetics.

Detailed genetic and functional analysis of the hDMDdel52/mdx mouse model.

T. Bragge, N. Datson, Annemieke Aartsma-Rus, 2020, PloS one.

O2: Diagnosis of genetic abnormalities in developmentally delayed patients: a new strategy combining MLPA and arrayCGH

H. Tanke, S. White, M. Kriek, 2005 .

Interstitial deletion of 6q without phenotypic effect

A. van Haeringen, J. Knijnenburg, K. Szuhai, 2007, American journal of medical genetics. Part A.

Array CGH detection of a cryptic deletion in a complex chromosome rearrangement

H. Tanke, W. Sloos, D. Brunoni, 2005, Human Genetics.

The influence of SNP‐based chromosomal microarray and NIPT on the diagnostic yield in 10,000 fetuses with and without fetal ultrasound anomalies

W. V. van IJcken, M. Knapen, J. Knijnenburg, 2017, Human mutation.

Clinical Report Interstitial Deletion of 6q Without Phenotypic Effect

A. Haeringen, J. Knijnenburg, K. Szuhai, 2007 .

Copy number variation in regions flanked (or unflanked) by duplicons among patients with developmental delay and/or congenital malformations; detection of reciprocal and partial Williams-Beuren duplications

G. V. Ommen, J. T. Dunnen, S. White, 2006, European Journal of Human Genetics.

A homozygous deletion of a normal variation locus in a patient with hearing loss from non-consanguineous parents

H. Tanke, C. Ruivenkamp, J. Knijnenburg, 2009, Journal of Medical Genetics.

Advanced genome-wide screening in human genomic disorders

J. Knijnenburg, 2009 .

The role of EXT1 in nonhereditary osteochondroma: identification of homozygous deletions.

A. Cleton-Jansen, H. van Dekken, P. Hogendoorn, 2007, Journal of the National Cancer Institute.

Cellular/intramuscular myxoma and grade I myxofibrosarcoma are characterized by distinct genetic alterations and specific composition of their extracellular matrix

R. Sciot, A. Cleton-Jansen, C. Fletcher, 2009, Journal of cellular and molecular medicine.

Array-based comparative genomic hybridization analysis reveals recurrent chromosomal alterations and prognostic parameters in primary cutaneous large B-cell lymphoma.

E. Jordanova, A. Raap, R. Willemze, 2006, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

Novel and highly recurrent chromosomal alterations in Sézary syndrome.

Remco Dijkman, Karl-Johan Leuchowius, Ulf Landegren, 2008, Cancer research.

A complex rearrangement on chromosome 22 affecting both homologues; haplo-insufficiency of the Cat eye syndrome region may have no clinical relevance

N. Carter, H. Fiegler, H. Tanke, 2006, Human Genetics.

A new gene associated with a beta-thalassemia phenotype: the observation of variants in SUPT5H.

F. Baas, C. Ruivenkamp, J. Traeger-Synodinos, 2020, Blood.

Prenatal diagnosis of susceptibility loci for neurodevelopmental disorders – genetic counseling and pregnancy outcome in 57 cases

D. Papatsonis, M. Knapen, J. Knijnenburg, 2017, Prenatal diagnosis.

Whole-genome array-CGH screening in undiagnosed syndromic patients: old syndromes revisited and new alterations

W. Sloos, M. Passos-Bueno, P. Pearson, 2006, Cytogenetic and Genome Research.

Combined array-comparative genomic hybridization and single-nucleotide polymorphism-loss of heterozygosity analysis reveals complex genetic alterations in cervical cancer

Ekaterina S Jordanova, Jan Oosting, Karoly Szuhai, 2007, BMC Genomics.

normal parents imbalances present both in affected children and of mentally retarded individuals: clinical significance Array-CGH detection of micro rearrangements in

N. Carter, H. Fiegler, W. Sloos, 2006 .

An Xq22.3 duplication detected by comparative genomic hybridization microarray (Array‐CGH) defines a new locus (FGS5) for FG syndrome

J. Opitz, M. Passos-Bueno, F. Jehee, 2005, American journal of medical genetics. Part A.

An Xq 22 . 3 Duplication Detected by Comparative Genomic Hybridization Microarray ( Array-CGH ) Defines a New Locus ( FGS 5 ) for FG Syndrome

J. Opitz, M. Passos-Bueno, F. Jehee, 2005 .

Array comparative genomic hybridization with cyanin cis-platinum-labeled DNAs.

H. Tanke, J. Gray, J. Hodgson, 2004, BioTechniques.

Split hand‐foot malformation, tetralogy of Fallot, mental retardation and a 1 Mb 19p deletion—evidence for further heterogeneity?

J. D. den Dunnen, H. van Bokhoven, C. Ruivenkamp, 2009, American journal of medical genetics. Part A.

Does non‐invasive prenatal testing affect the livebirth prevalence of Down syndrome in the Netherlands? A population‐based register study

D. Smeets, A. Kooper, A. V. van Kaam, 2021, Prenatal diagnosis.

Comprehensive diagnostics of acute myeloid leukemia by whole transcriptome RNA sequencing

P. de Knijff, P. Hoen, T. van Wezel, 2020, Leukemia.

Two distinct regions in 2q24.2‐q24.3 associated with idiopathic epilepsy

P. Pearson, A. Vianna-Morgante, E. Bijlsma, 2010, Epilepsia.

Recurrent deletion of ZNF630 at Xp11.23 is not associated with mental retardation

R. Pfundt, J. Gécz, M. Stratton, 2010, American journal of medical genetics. Part A.

Chromosome imbalances in syndromic hearing loss

C. Rosenberg, J. Knijnenburg, P. Otto, 2009, Clinical genetics.

Diagnosis of genetic abnormalities in developmentally delayed patients: A new strategy combining MLPA and array‐CGH

H. Tanke, J. D. den Dunnen, G. V. van Ommen, 2007, American journal of medical genetics. Part A.

A 6Mb deletion in band 2q22 due to a complex chromosome rearrangement associated with severe psychomotor retardation, microcephaly and distinctive dysmorphic facial features.

E. Bakker, Y. Hilhorst‐Hofstee, L. Laan, 2007, European journal of medical genetics.

Insights from genomic microarrays into structural chromosome rearrangements

H. Tanke, W. Sloos, M. Poot, 2005, American journal of medical genetics. Part A.

Possible hints and pitfalls in diagnosing Peutz-Jeghers syndrome

D. Barge-Schaapveld, C. de Bruin, J. Knijnenburg, 2018, Journal of pediatric endocrinology & metabolism : JPEM.

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

Oncogenomic analysis of mycosis fungoides reveals major differences with Sezary syndrome.

J. Boer, R. Willemze, R. van Doorn, 2009, Blood.

Familial Adenomatous Polyposis-Associated Desmoids Display Significantly More Genetic Changes than Sporadic Desmoids

B. Alman, P. Devilee, P. Radice, 2011, PloS one.

Molecular characterization of two patients with de novo interstitial deletions in 4q22–q24

Z. Tümer, N. Tommerup, L. Larsen, 2009, American journal of medical genetics. Part A.

Molecular and clinical characterization of de novo and familial cases with microduplication 3q29: guidelines for copy number variation case reporting

S. Scherer, A. C. Lionel, C. Marshall, 2009, Cytogenetic and Genome Research.

IL-31 Receptor Alpha Expression in Epidermal Keratinocytes Is Modulated by Cell Differentiation and Interferon Gamma

E. Jaffe, L. Cerroni, R. Willemze, 2009 .

Another Rare Prenatal Case of Post‐Zygotic Mosaic Trisomy 17

M. Knapen, J. Knijnenburg, F. D. de Vries, 2013, American journal of medical genetics. Part A.

Intracerebral hemorrhage in a neonate with an intragenic COL4A2 duplication

L. D. de Vries, G. Santen, C. Peeters-Scholte, 2020, American journal of medical genetics. Part A.

Rapid detection of genomic imbalances using micro-arrays consisting of pooled BACs covering all human chromosome arms

H. Tanke, H. K. V. van Amstel, J. Knijnenburg, 2005, Nucleic acids research.

The arrhythmogenic cardiomyopathy phenotype associated with PKP2 c.1211dup variant

R. Bökenkamp, D. Barge-Schaapveld, R. L. Lekanne Deprez, 2023, Netherlands Heart Journal.

Autonomous B-cell receptor signaling and genetic aberrations in chronic lymphocytic leukemia-phenotype monoclonal B lymphocytosis in siblings of patients with chronic lymphocytic leukemia

Marcelo A. Navarrete, Marvyn T. Koning, K. Stamatopoulos, 2023, Haematologica.

A Woman with Missing Hb A2 Due to a Novel (εγ)δβ0-Thalassemia and a Novel δ-Globin Variant Hb A2-Gebenstorf (HBD: c.209G>A)

J. Knijnenburg, C. Harteveld, F. Dutly, 2020, Hemoglobin.

Prenatal SNP array testing in 1000 fetuses with ultrasound anomalies: causative, unexpected and susceptibility CNVs

M. Knapen, J. Knijnenburg, R. Galjaard, 2015, European Journal of Human Genetics.

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