List of works - Karoly Szuhai

'The chicken or the egg?' dilemma strikes back for the controlling mechanism in chordoma(#).

scientific article

1q gain and CDT2 overexpression underlie an aggressive and highly proliferative form of Ewing sarcoma

scientific article

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

scientific article

A Rett syndrome patient with a ring X chromosome: further evidence for skewing of X inactivation and heterogeneity in the aetiology of the disease

scientific article published on 01 March 2001

A balanced t(5;17) (p15;q22-23) in chondroblastoma: frequency of the re-arrangement and analysis of the candidate genes.

scientific article

A common single-nucleotide variant in T is strongly associated with chordoma

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

A murine mesenchymal stem cell model for initiating events in osteosarcomagenesis points to CDK4/CDK6 inhibition as a therapeutic target

scientific article published on 17 December 2021

A novel strategy for human papillomavirus detection and genotyping with SybrGreen and molecular beacon polymerase chain reaction

scientific article published on November 2001

A novel t(6;14)(q25-q27;q32) in acute myelocytic leukemia involves the BCL11B gene.

scientific article

A short-term in vivo model for giant cell tumor of bone.

scientific article

A translocation t(6;14) in two cases of leiomyosarcoma: Molecular cytogenetic and array-based comparative genomic hybridization characterization.

scientific article

Aberrant heparan sulfate proteoglycan localization, despite normal exostosin, in central chondrosarcoma

scientific article published on 29 January 2009

Activation of the vitamin D receptor selectively interferes with calcineurin-mediated inflammation: a clinical evaluation in the abdominal aortic aneurysm

scientific article published on 30 May 2016

Actomyosin drives cancer cell nuclear dysmorphia and threatens genome stability

scientific article published on 24 July 2017

Analysis of stromal cells in osteofibrous dysplasia and adamantinoma of long bones

scientific article published on 07 October 2011

Angiomatoid Fibrous Histiocytoma: Pleomorphic Variant Associated with Multiplication of EWSR1-CREB1 Fusion Gene

article

Anti-EGFR Antibody Cetuximab Enhances the Cytolytic Activity of Natural Killer Cells toward Osteosarcoma

scientific article published on 16 November 2011

Array CGH analysis identifies two distinct subgroups of primary angiosarcoma of bone

article

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 analysis of cutaneous anaplastic large cell lymphoma.

scientific article

Array-CGH and SNP-Arrays, the New Karyotype

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

Array-based comparative genomic hybridisation analysis reveals recurrent chromosomal alterations in primary diffuse large B cell lymphoma of bone

article

Array-comparative genomic hybridization of central chondrosarcoma: identification of ribosomal protein S6 and cyclin-dependent kinase 4 as candidate target genes for genomic aberrations.

scientific article published on July 2006

BMP-SMAD Signaling Regulates Lineage Priming, but Is Dispensable for Self-Renewal in Mouse Embryonic Stem Cells

scientific article

BRCA2 heterozygosity delays cytokinesis in primary human fibroblasts.

scientific article

Breakpoint characterization of large deletions in EXT1 or EXT2 in 10 multiple osteochondromas families

scientific article

Breast cancer dormancy is associated with a 4NG1 state and not senescence

scientific article published on 27 October 2021

CD99-positive undifferentiated round cell sarcoma diagnosed on fine needle aspiration cytology, later found to harbour a CIC-DUX4 translocation: a recently described entity.

scientific article published on 3 July 2013

COBRA: combined binary ratio labeling of nucleic-acid probes for multi-color fluorescence in situ hybridization karyotyping

scientific article

CT-guided, COBRA-FISH-assisted diagnosis of well-differentiated liposarcoma (inflammatory subtype) of the retroperitoneum.

scientific article published in September 2007

Cathepsin K is the principal protease in giant cell tumor of bone.

scientific article

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

Centriole movements in mammalian epithelial cells during cytokinesis

scientific article

Characterization of a new human cell line (CH-3573) derived from a grade II chondrosarcoma with matrix production

scientific article

Chemotherapy-resistant osteosarcoma is highly susceptible to IL-15-activated allogeneic and autologous NK cells.

scientific article

Chromosomal and Microsatellite Instability of Adenocarcinomas and Dysplastic Lesions (DALM) in Ulcerative Colitis

scientific article published on 01 December 2006

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

scientific article published on 01 August 2007

Chromosome segregation errors as a cause of DNA damage and structural chromosome aberrations

scientific article published on September 2011

Clonal T- and natural killer-cell large granular lymphocyte proliferations in a single patient established by array-based comparative genomic hybridization analysis

scientific article published on 26 October 2006

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

scientific article

Combined metaphase, interphase cytogenetic, and flow cytometric analysis of DNA content of pediatric acute lymphoblastic leukemia

scientific article published in April 1998

Comprehensive profiling of disease-relevant copy number aberrations for advanced clinical diagnostics of pediatric acute lymphoblastic leukemia

scientific article published on 19 December 2019

Connexin 26 mutations in cases of sensorineural deafness in eastern Austria

scientific article published in July 2002

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

Cutaneous Anaplastic Large Cell Lymphoma and Peripheral T-Cell Lymphoma NOS Show Distinct Chromosomal Alterations and Differential Expression of Chemokine Receptors and Apoptosis Regulators

scientific article published on 27 August 2009

DNA methylation and transcriptional trajectories during human development and reprogramming of isogenic pluripotent stem cells.

scientific article published on 13 October 2017

DOG1 expression in giant-cell-containing bone tumours

scientific article published on 21 December 2015

Deletions encompassing 1q41q42.1 and clinical features of autosomal dominant Robinow syndrome

scientific article published on 20 January 2010

Detection and molecular cytogenetic characterization of a novel ring chromosome in a histological variant of Ewing sarcoma

scientific article published on 01 January 2007

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

scientific article published on 01 March 2007

Differences in telomerase expression by the CD1a+ cells in Langerhans cell histiocytosis reflect the diverse clinical presentation of the disease

scientific article published on 01 June 2007

Disruption of Drosophila Rad50 causes pupal lethality, the accumulation of DNA double-strand breaks and the induction of apoptosis in third instar larvae

scientific article published in June 2004

Distinct nuclear gene expression profiles in cells with mtDNA depletion and homoplasmic A3243G mutation.

scientific article published on October 2005

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

EWSR1-CREB1 and EWSR1-ATF1 Fusion Genes in Angiomatoid Fibrous Histiocytoma

article

Establishment and cytogenetic characterization of a human acute lymphoblastic leukemia cell line (ALL-VG) with ETV6/ABL1 rearrangement

scientific article

Establishment and detailed functional and molecular genetic characterisation of a novel sacral chordoma cell line, MUG-Chor1.

scientific article

Evaluation of high-resolution microarray platforms for genomic profiling of bone tumours

scientific article

Ewing sarcoma inhibition by disruption of EWSR1-FLI1 transcriptional activity and reactivation of p53.

scientific article

Expression of the immune regulation antigen CD70 in osteosarcoma

scientific article

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

scientific article

Fluorescent CXCR4 targeting peptide as alternative for antibody staining in Ewing sarcoma

scientific article

Frequent deletion of the CDKN2A locus in chordoma: analysis of chromosomal imbalances using array comparative genomic hybridisation

scientific article

Further Evidence of the Existence of Benign Teratomas of the Postpubertal Testis

article

Fusion events lead to truncation of FOS in epithelioid hemangioma of bone

scientific article

GJB2 mutations in hearing impairment: identification of a broad clinical spectrum for improved genetic counseling.

scientific article

GRM1 is upregulated through gene fusion and promoter swapping in chondromyxoid fibroma.

scientific article

Gene-expression profiling and array-based CGH classify CD4+CD56+ hematodermic neoplasm and cutaneous myelomonocytic leukemia as distinct disease entities

article

Generation of induced pluripotent stem cells from human foetal fibroblasts using the Sleeping Beauty transposon gene delivery system.

scientific article

Genetic characterization of mesenchymal, clear cell, and dedifferentiated chondrosarcoma.

scientific article

Genome-wide analysis of Ollier disease: Is it all in the genes?

scientific article published on 14 January 2011

Genomic alterations and gene expression in primary diffuse large B-cell lymphomas of immune-privileged sites: the importance of apoptosis and immunomodulatory pathways.

scientific article published on October 2008

Genomic analysis of early adenocarcinoma of the esophagus or gastroesophageal junction: tumor progression is associated with alteration of 1q and 8p sequences.

scientific article

Genomic array and expression analysis of frequent high-level amplifications in adenocarcinomas of the gastro-esophageal junction.

scientific article published in April 2006

Genomic imbalances associated with mullerian aplasia

scientific article published on 26 November 2007

Genomic instability in giant cell tumor of bone. A study of 52 cases using DNA ploidy, relocalization FISH, and array-CGH analysis.

scientific article published in June 2009

Guidelines for molecular karyotyping in constitutional genetic diagnosis

scientific article

Heterogeneous and complex rearrangements of chromosome arm 6q in chondromyxoid fibroma: delineation of breakpoints and analysis of candidate target genes

scientific article published on 9 August 2010

High-resolution copy number analysis of paraffin-embedded archival tissue using SNP BeadArrays.

scientific article

Human cardiomyocyte progenitor cell transplantation preserves long-term function of the infarcted mouse myocardium

scientific article published on 09 May 2009

Human melanoma brain metastases cell line MUG-Mel1, isolated clones and their detailed characterization

scientific article published on 11 March 2019

Hypoparathyroidism-retardation-dysmorphism syndrome in a girl: A new variant not caused by a TBCE mutation--clinical report and review.

scientific article published in March 2006

I9: Micro-arrays consisting of pooled BACs for rapid detection of genomic imbalances

Identification of a SNP in a regulatory region of GJB2 associated with idiopathic nonsyndromic autosomal recessive hearing loss in a multicenter study

scientific article published in June 2013

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

Intronic deletion and duplication proximal of the EXT1 gene: a novel causative mechanism for multiple osteochondromas.

scientific article published on 23 January 2013

Kinome profiling of myxoid liposarcoma reveals NF-kappaB-pathway kinase activity and casein kinase II inhibition as a potential treatment option.

scientific article published on 23 September 2010

LSAMP, a novel candidate tumor suppressor gene in human osteosarcomas, identified by array comparative genomic hybridization

scientific article

Local recurrence of myxofibrosarcoma is associated with increase in tumour grade and cytogenetic aberrations, suggesting a multistep tumour progression model

article

Long-term culture of primary human lymphoblastic leukemia cells in the absence of serum or hematopoietic growth factors

scientific article published on 9 January 2009

Loss of NF2 defines a genetic subgroup of non-FOS-rearranged osteoblastoma

scientific article published on 16 June 2020

Loss of p53 partially rescues embryonic development of Palb2 knockout mice but does not foster haploinsufficiency of Palb2 in tumour suppression

scientific journal article

MLPA is a powerful tool for detecting lymphoblastic transformation in chronic myeloid leukemia and revealing the clonal origin of relapse in pediatric acute lymphoblastic leukemia.

scientific article published on September 2012

Machine learning analysis of gene expression data reveals novel diagnostic and prognostic biomarkers and identifies therapeutic targets for soft tissue sarcomas

article

Maffucci syndrome: a genome-wide analysis using high resolution single nucleotide polymorphism and expression arrays on four cases.

scientific article published on 16 May 2011

Malignant fibrous histiocytoma and fibrosarcoma of bone: a re-assessment in the light of currently employed morphological, immunohistochemical and molecular approaches.

scientific article published on 22 September 2012

Maternally inherited partial monosomy 9p (pter → p24.1) and partial trisomy 20p (pter → p12.1) characterized by microarray comparative genomic hybridization.

scientific article published on 21 September 2011

Mediator complex subunit 12 exon 2 mutation analysis in different subtypes of smooth muscle tumors confirms genetic heterogeneity

scientific article published on 19 March 2013

Microarray Techniques to Analyze Copy-Number Alterations in Genomic DNA: Array Comparative Genomic Hybridization and Single-Nucleotide Polymorphism Array.

scientific article published on October 2015

Molecular Analysis of Gene Fusions in Bone and Soft Tissue Tumors by Anchored Multiplex PCR–Based Targeted Next-Generation Sequencing

article

Molecular Pathology of Bone Tumors

scientific article published on 18 December 2018

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

scientific article

Molecular cytogenetic characterization of four previously established and two newly established Ewing sarcoma cell lines.

scientific article published on April 2006

Molecular pathology and its diagnostic use in bone tumors.

scientific article

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

Multiple genomic aberrations in a patient with mental retardation and hypogonadism: 45,X/46,X,psu dic(Y) karyotype, thyroid hormone receptor beta (THRB) mutation and heterozygosity for Wilson disease.

scientific article published in October 2009

Multiplex ligation-dependent probe amplification and fluorescence in situ hybridization are complementary techniques to detect cytogenetic abnormalities in multiple myeloma

scientific article published on 30 May 2013

No genomic aberrations in Langerhans cell histiocytosis as assessed by diverse molecular technologies

scientific article published on 01 March 2009

No haploinsufficiency but loss of heterozygosity for EXT in multiple osteochondromas

scientific article

Non-random mtDNA segregation patterns indicate a metastable heteroplasmic segregation unit in m.3243A>G cybrid cells

scientific article

Novel and highly recurrent chromosomal alterations in Sézary syndrome.

scientific article

Novel splice variants of CXCR4 identified by transcriptome sequencing

scientific article published on 27 August 2015

Novel translocation variant in ewing sarcoma involving the NFATc2 gene

article

Oncogenic functions of hMDMX in in vitro transformation of primary human fibroblasts and embryonic retinoblasts

scientific article published on 12 September 2011

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

scientific article

Opening the archives for state of the art tumour genetic research: sample processing for array-CGH using decalcified, formalin-fixed, paraffin-embedded tissue-derived DNA samples

scientific article

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

scientific article published on August 2007

Osteosarcoma originates from mesenchymal stem cells in consequence of aneuploidization and genomic loss of Cdkn2.

scientific article

P63: Molecular karyotyping of a chondroblastoma to identify the new formed chimera-gene

article

PRAME and HLA Class I expression patterns make synovial sarcoma a suitable target for PRAME specific T-cell receptor gene therapy

article

Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase

scientific article

Physical status of multiple human papillomavirus genotypes in flow-sorted cervical cancer cells

scientific article published on 01 June 2007

Positioning of cervical carcinoma and Burkitt lymphoma translocation breakpoints with respect to the human papillomavirus integration cluster in FRA8C at 8q24.13

scientific article published on 01 October 2004

Presence of a high amount of stroma and downregulation of SMAD4 predict for worse survival for stage I-II colon cancer patients.

scientific article

Primary synovial sarcoma of the heart: a cytogenetic and molecular genetic analysis combining RT-PCR and COBRA-FISH of a case with a complex karyotype.

scientific article published in November 2004

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

scientific article

Real-time monitoring of rolling-circle amplification using a modified molecular beacon design

scientific article published on July 2002

Recurrent chromosome 22 deletions in osteoblastoma affect inhibitors of the Wnt/beta-catenin signaling pathway

scientific article

Report of a del22q11 in a patient with Mayer-Rokitansky-Küster-Hauser (MRKH) anomaly and exclusion ofWNT-4,RAR-gamma, andRXR-alpha as major genes determining MRKH anomaly in a study of 25 affected women

article

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

scientific article published on 7 March 2007

Role of the transcription factor T (brachyury) in the pathogenesis of sporadic chordoma: a genetic and functional-based study

scientific article

Sarcoma derived from cultured mesenchymal stem cells

scientific article published on 12 October 2006

Secondary peripheral chondrosarcoma evolving from osteochondroma as a result of outgrowth of cells with functional EXT

scientific article (publication date: March 2012)

Selective resistance to the PARP inhibitor olaparib in a mouse model for BRCA1-deficient metaplastic breast cancer.

scientific article published on 22 June 2015

Sequencing Overview of Ewing Sarcoma: A Journey across Genomic, Epigenomic and Transcriptomic Landscapes

scientific article

Sequential and hierarchical chromosomal changes and chromosome instability are distinct features of high hyperdiploid pediatric acute lymphoblastic leukemia

scientific article published on 30 August 2014

Silent Philadelphia chromosome: a distinct developmental stage in a philadelphia chromosome-positive chronic myeloproliferation?

scientific article published in April 2000

Simultaneous mapping of human papillomavirus integration sites and molecular karyotyping in short-term cultures of cervical carcinomas by using 49-color combined binary ratio labeling fluorescence in situ hybridization

article

Simultaneous molecular karyotyping and mapping of viral DNA integration sites by 25-color COBRA-FISH.

scientific article

Single nucleotide polymorphism array analysis of chromosomal instability patterns discriminates rectal adenomas from carcinomas

article

Sleeping Beauty transposon-based system for cellular reprogramming and targeted gene insertion in induced pluripotent stem cells.

scientific article published on 28 December 2012

Small deletions but not methylation underlie CDKN2A/p16 loss of expression in conventional osteosarcoma.

scientific article

Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome

scientific article

Telatinib Is an Effective Targeted Therapy for Pseudomyogenic Hemangioendothelioma.

scientific article

The NFATc2 gene is involved in a novel cloned translocation in a Ewing sarcoma variant that couples its function in immunology to oncology

scientific article (publication date: April 2009)

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

article

The second European interdisciplinary Ewing sarcoma research summit--A joint effort to deconstructing the multiple layers of a complex disease

scientific article

Three new chondrosarcoma cell lines: one grade III conventional central chondrosarcoma and two dedifferentiated chondrosarcomas of bone

scientific article

Tiling resolution array-CGH shows that somatic mosaic deletion of the EXT gene is causative in EXT gene mutation negative multiple osteochondromas patients

article

Transactivating mutation of theMYOD1gene is a frequent event in adult spindle cell rhabdomyosarcoma

article

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

scientific article published on 30 September 2010

Unraveling the Resistance of IGF-Pathway Inhibition in Ewing Sarcoma

scientific article published on 29 November 2020

Unscrambling the genomic chaos of osteosarcoma reveals extensive transcript fusion, recurrent rearrangements and frequent novel TP53 aberrations

scientific article published on 11 December 2015

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

scientific article published in January 2006

Widening the clinical spectrum of Pitt-Rogers-Danks/Wolf-Hirschhorn syndromes

p120-catenin prevents multinucleation through control of MKLP1-dependent RhoA activity during cytokinesis

scientific article

List of works by Karoly Szuhai

'The chicken or the egg?' dilemma strikes back for the controlling mechanism in chordoma(#).

1q gain and CDT2 overexpression underlie an aggressive and highly proliferative form of Ewing sarcoma

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

A Rett syndrome patient with a ring X chromosome: further evidence for skewing of X inactivation and heterogeneity in the aetiology of the disease

A balanced t(5;17) (p15;q22-23) in chondroblastoma: frequency of the re-arrangement and analysis of the candidate genes.

A common single-nucleotide variant in T is strongly associated with chordoma

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

A murine mesenchymal stem cell model for initiating events in osteosarcomagenesis points to CDK4/CDK6 inhibition as a therapeutic target

A novel strategy for human papillomavirus detection and genotyping with SybrGreen and molecular beacon polymerase chain reaction

A novel t(6;14)(q25-q27;q32) in acute myelocytic leukemia involves the BCL11B gene.

A short-term in vivo model for giant cell tumor of bone.

A translocation t(6;14) in two cases of leiomyosarcoma: Molecular cytogenetic and array-based comparative genomic hybridization characterization.

Aberrant heparan sulfate proteoglycan localization, despite normal exostosin, in central chondrosarcoma

Activation of the vitamin D receptor selectively interferes with calcineurin-mediated inflammation: a clinical evaluation in the abdominal aortic aneurysm

Actomyosin drives cancer cell nuclear dysmorphia and threatens genome stability

Analysis of stromal cells in osteofibrous dysplasia and adamantinoma of long bones

Angiomatoid Fibrous Histiocytoma: Pleomorphic Variant Associated with Multiplication of EWSR1-CREB1 Fusion Gene

Anti-EGFR Antibody Cetuximab Enhances the Cytolytic Activity of Natural Killer Cells toward Osteosarcoma

Array CGH analysis identifies two distinct subgroups of primary angiosarcoma of bone

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 analysis of cutaneous anaplastic large cell lymphoma.

Array-CGH and SNP-Arrays, the New Karyotype

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

Array-based comparative genomic hybridisation analysis reveals recurrent chromosomal alterations in primary diffuse large B cell lymphoma of bone

Array-comparative genomic hybridization of central chondrosarcoma: identification of ribosomal protein S6 and cyclin-dependent kinase 4 as candidate target genes for genomic aberrations.

BMP-SMAD Signaling Regulates Lineage Priming, but Is Dispensable for Self-Renewal in Mouse Embryonic Stem Cells

BRCA2 heterozygosity delays cytokinesis in primary human fibroblasts.

Breakpoint characterization of large deletions in EXT1 or EXT2 in 10 multiple osteochondromas families

Breast cancer dormancy is associated with a 4NG1 state and not senescence

CD99-positive undifferentiated round cell sarcoma diagnosed on fine needle aspiration cytology, later found to harbour a CIC-DUX4 translocation: a recently described entity.

COBRA: combined binary ratio labeling of nucleic-acid probes for multi-color fluorescence in situ hybridization karyotyping

CT-guided, COBRA-FISH-assisted diagnosis of well-differentiated liposarcoma (inflammatory subtype) of the retroperitoneum.

Cathepsin K is the principal protease in giant cell tumor of bone.

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

Centriole movements in mammalian epithelial cells during cytokinesis

Characterization of a new human cell line (CH-3573) derived from a grade II chondrosarcoma with matrix production

Chemotherapy-resistant osteosarcoma is highly susceptible to IL-15-activated allogeneic and autologous NK cells.

Chromosomal and Microsatellite Instability of Adenocarcinomas and Dysplastic Lesions (DALM) in Ulcerative Colitis

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

Chromosome segregation errors as a cause of DNA damage and structural chromosome aberrations

Clonal T- and natural killer-cell large granular lymphocyte proliferations in a single patient established by array-based comparative genomic hybridization analysis

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

Combined metaphase, interphase cytogenetic, and flow cytometric analysis of DNA content of pediatric acute lymphoblastic leukemia

Comprehensive profiling of disease-relevant copy number aberrations for advanced clinical diagnostics of pediatric acute lymphoblastic leukemia

Connexin 26 mutations in cases of sensorineural deafness in eastern Austria

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.

Cutaneous Anaplastic Large Cell Lymphoma and Peripheral T-Cell Lymphoma NOS Show Distinct Chromosomal Alterations and Differential Expression of Chemokine Receptors and Apoptosis Regulators

DNA methylation and transcriptional trajectories during human development and reprogramming of isogenic pluripotent stem cells.

DOG1 expression in giant-cell-containing bone tumours

Deletions encompassing 1q41q42.1 and clinical features of autosomal dominant Robinow syndrome

Detection and molecular cytogenetic characterization of a novel ring chromosome in a histological variant of Ewing sarcoma

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

Differences in telomerase expression by the CD1a+ cells in Langerhans cell histiocytosis reflect the diverse clinical presentation of the disease

Disruption of Drosophila Rad50 causes pupal lethality, the accumulation of DNA double-strand breaks and the induction of apoptosis in third instar larvae

Distinct nuclear gene expression profiles in cells with mtDNA depletion and homoplasmic A3243G mutation.

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

EWSR1-CREB1 and EWSR1-ATF1 Fusion Genes in Angiomatoid Fibrous Histiocytoma

Establishment and cytogenetic characterization of a human acute lymphoblastic leukemia cell line (ALL-VG) with ETV6/ABL1 rearrangement

Establishment and detailed functional and molecular genetic characterisation of a novel sacral chordoma cell line, MUG-Chor1.

Evaluation of high-resolution microarray platforms for genomic profiling of bone tumours

Ewing sarcoma inhibition by disruption of EWSR1-FLI1 transcriptional activity and reactivation of p53.

Expression of the immune regulation antigen CD70 in osteosarcoma

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

Fluorescent CXCR4 targeting peptide as alternative for antibody staining in Ewing sarcoma

Frequent deletion of the CDKN2A locus in chordoma: analysis of chromosomal imbalances using array comparative genomic hybridisation

Further Evidence of the Existence of Benign Teratomas of the Postpubertal Testis

Fusion events lead to truncation of FOS in epithelioid hemangioma of bone

GJB2 mutations in hearing impairment: identification of a broad clinical spectrum for improved genetic counseling.

GRM1 is upregulated through gene fusion and promoter swapping in chondromyxoid fibroma.

Gene-expression profiling and array-based CGH classify CD4+CD56+ hematodermic neoplasm and cutaneous myelomonocytic leukemia as distinct disease entities

Generation of induced pluripotent stem cells from human foetal fibroblasts using the Sleeping Beauty transposon gene delivery system.

Genetic characterization of mesenchymal, clear cell, and dedifferentiated chondrosarcoma.

Genome-wide analysis of Ollier disease: Is it all in the genes?

Genomic alterations and gene expression in primary diffuse large B-cell lymphomas of immune-privileged sites: the importance of apoptosis and immunomodulatory pathways.

Genomic analysis of early adenocarcinoma of the esophagus or gastroesophageal junction: tumor progression is associated with alteration of 1q and 8p sequences.

Genomic array and expression analysis of frequent high-level amplifications in adenocarcinomas of the gastro-esophageal junction.

Genomic imbalances associated with mullerian aplasia