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

The Journal of pathology, 2008-10, Vol.216 (2), p.209-217

2008

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CXCL14, CXCR7 expression and CXCR4 splice variant ratio associate with survival and metastases in Ewing sarcoma patients

European journal of cancer (1990), 2015-11, Vol.51 (17), p.2624-2633

2015

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

Oncogene, 2012-03, Vol.31 (10), p.1287-1298

2012

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Generation of Fibrodysplasia ossificans progressiva and control integration free iPSC lines from periodontal ligament fibroblasts

Stem cell research, 2019-12, Vol.41, p.101639-101639, Article 101639

2019

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

Oncogene, 2012-03, Vol.31 (9), p.1095-1104

2012

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Genomic imbalances associated with müllerian aplasia

Journal of medical genetics, 2008-04, Vol.45 (4), p.228-232

2008

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Novel splice variants of CXCR4 identified by transcriptome sequencing

Biochemical and biophysical research communications, 2015-10, Vol.466 (1), p.89-94

2015

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

Journal of medical genetics, 2006-02, Vol.43 (2), p.180-186

2006

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

British journal of cancer, 2008-01, Vol.98 (2), p.434-442

2008

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Conserved hierarchical gain of chromosome 4 is an independent prognostic factor in high hyperdiploid pediatric acute lymphoblastic leukemia

Leukemia research, 2017-01, Vol.52, p.28-33

2017

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

Journal of medical genetics, 2009-06, Vol.46 (6), p.412-417

2009

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

Cytopathology (Oxford), 2014-04, Vol.25 (2), p.129-132

2014

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Simultaneous A8344G heteroplasmy and mitochondrial DNA copy number quantification in myoclonus epilepsy and ragged-red fibers (MERRF) syndrome by a multiplex molecular beacon based real-time fluorescence PCR

Nucleic acids research, 2001-02, Vol.29 (3), p.E13-13

2001

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

Cytogenetic and genome research, 2006-01, Vol.115 (3-4), p.254-261

2006

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Diffuse Alveolar Damage of the Lungs in Forensic Autopsies : Assessment of Histopathological Stages and Causes of Death

TheScientificWorld, 2012-01, Vol.2012 (2012), p.1-6

2012

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

Journal of clinical pathology, 2010-12, Vol.63 (12), p.1095-1100

2010

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878 Novel Eight-target FISH Approach for Profiling Clonality of High-hyperdiploid Paediatric Acute Lymphoblastic Leukemia (HHD-pALL)

European journal of cancer (1990), 2012-07, Vol.48, p.S212-S212

2012

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

Clinical genetics, 2010-04, Vol.77 (4), p.404-407

2010

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

Human genetics, 2005-04, Vol.116 (5), p.390-394

2005

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GJB2 Mutations in Hearing Impairment: Identification of a Broad Clinical Spectrum for Improved Genetic Counseling

The Laryngoscope, 2005-03, Vol.115 (3), p.461-465

2005

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Array-CGH analysis of cutaneous anaplastic large cell lymphoma

Methods in molecular biology (Clifton, N.J.), 2013, Vol.973, p.197

2013

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

Modern pathology, 2020-05, Vol.33 (5), p.812-824

2020

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

The Journal of pathology, 2007-07, Vol.212 (3), p.269-277

2007

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

Cytogenetic and genome research, 2008-01, Vol.123 (1-4), p.65-78

2008

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

Cytogenetic and genome research, 2006-01, Vol.114 (1), p.89-92

2006

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

CXCL14, CXCR7 expression and CXCR4 splice variant ratio associate with survival and metastases in Ewing sarcoma patients

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

Generation of Fibrodysplasia ossificans progressiva and control integration free iPSC lines from periodontal ligament fibroblasts

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

Genomic imbalances associated with müllerian aplasia

Novel splice variants of CXCR4 identified by transcriptome sequencing

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

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

Conserved hierarchical gain of chromosome 4 is an independent prognostic factor in high hyperdiploid pediatric acute lymphoblastic leukemia

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

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

Simultaneous A8344G heteroplasmy and mitochondrial DNA copy number quantification in myoclonus epilepsy and ragged-red fibers (MERRF) syndrome by a multiplex molecular beacon based real-time fluorescence PCR

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

Diffuse Alveolar Damage of the Lungs in Forensic Autopsies : Assessment of Histopathological Stages and Causes of Death

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

878 Novel Eight-target FISH Approach for Profiling Clonality of High-hyperdiploid Paediatric Acute Lymphoblastic Leukemia (HHD-pALL)

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

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

GJB2 Mutations in Hearing Impairment: Identification of a Broad Clinical Spectrum for Improved Genetic Counseling

Array-CGH analysis of cutaneous anaplastic large cell lymphoma

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

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

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

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

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