List of works - Jeroen Knijnenburg

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

scientific article

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

scientific article

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

scientific article published on 18 May 2006

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

scientific article published on 25 February 2009

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

scientific article

Another Rare Prenatal Case of Post-Zygotic Mosaic Trisomy 17

scientific article published on 20 March 2013

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

scientific article

Array-Based Comparative Genomic Hybridization Analysis Reveals Recurrent Chromosomal Alterations and Prognostic Parameters in Primary Cutaneous Large B-Cell Lymphoma

article

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

scientific article published on 24 June 2005

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

scientific article published on 13 March 2009

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

scientific article published on 01 August 2007

Chromosome imbalances in syndromic hearing loss

scientific article published on 6 October 2009

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

scientific article published on 20 February 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

scientific article published in February 2006

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

scientific article published on 01 March 2007

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

scientific article published on 01 July 2007

Familial adenomatous polyposis-associated desmoids display significantly more genetic changes than sporadic desmoids

scientific article

Insights from genomic microarrays into structural chromosome rearrangements

scientific article published on 01 January 2005

Interstitial deletion of 6q without phenotypic effect

scientific article published on 01 June 2007

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

scientific article

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

scientific article published on 01 August 2009

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.

scientific article

Novel and highly recurrent chromosomal alterations in Sézary syndrome.

scientific article

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

scientific article

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

scientific article

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

scientific article published on August 2007

PRRT2-related phenotypes in patients with a 16p11.2 deletion

scientific article published on 17 August 2018

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

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

scientific article

Recurrent deletion ofZNF630at Xp11.23 is not associated with mental retardation

scientific article published on 01 March 2010

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

scientific article published on 7 March 2007

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

scientific article published on 01 May 2009

The Role of EXT1 in Nonhereditary Osteochondroma: Identification of Homozygous Deletions

article

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

scientific article published on 30 September 2010

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

scientific article published in January 2006

List of works by Jeroen Knijnenburg

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

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

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

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

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

Another Rare Prenatal Case of Post-Zygotic Mosaic Trisomy 17

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

Array-Based Comparative Genomic Hybridization Analysis Reveals Recurrent Chromosomal Alterations and Prognostic Parameters in Primary Cutaneous Large B-Cell Lymphoma

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

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

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

Chromosome imbalances in syndromic hearing loss

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

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

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

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

Familial adenomatous polyposis-associated desmoids display significantly more genetic changes than sporadic desmoids

Insights from genomic microarrays into structural chromosome rearrangements

Interstitial deletion of 6q without phenotypic effect

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

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

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.

Novel and highly recurrent chromosomal alterations in Sézary syndrome.

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

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

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

PRRT2-related phenotypes in patients with a 16p11.2 deletion

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

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

Recurrent deletion ofZNF630at Xp11.23 is not associated with mental retardation

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

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

The Role of EXT1 in Nonhereditary Osteochondroma: Identification of Homozygous Deletions

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

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