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List of works by Carla Rosenberg

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Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies

scientific article (publication date: 14 May 2010)
Mutations in the APC tumour suppressor gene cause chromosomal instability

scientific article published in April 2001
Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability

scientific article
Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation

scientific article published in July 2007
Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair.

scientific article
Identification of genetic markers for prostatic cancer progression

scientific article published on 01 June 2000
Germline DNA copy number variation in familial and early-onset breast cancer

scientific article
Characteristic pattern of chromosomal gains and losses in marginal zone B cell lymphoma detected by comparative genomic hybridization

scientific article published on 01 May 1997
Overrepresentation of the short arm of chromosome 12 is related to invasive growth of human testicular seminomas and nonseminomas

scientific article published on 01 November 2000
Identification of the critical region of 12p over-representation in testicular germ cell tumors of adolescents and adults.

scientific article published on May 1998
Genomic imbalances associated with mullerian aplasia

scientific article published on 26 November 2007
Germline copy number variations and cancer predisposition.

scientific article published on April 2012
Whole-genome array-CGH screening in undiagnosed syndromic patients: old syndromes revisited and new alterations.

scientific article published in January 2006
Array-Based Comparative Genomic Hybridization Analysis Reveals Recurrent Chromosomal Alterations and Prognostic Parameters in Primary Cutaneous Large B-Cell Lymphoma

article
Comparative genomic and in situ hybridization of germ cell tumors of the infantile testis.

scientific article published in July 2000
Ring chromosome formation as a novel escape mechanism in patients with inverted duplication and terminal deletion

scientific article published on 7 March 2007
Structural variation in the human genome: the impact of copy number variants on clinical diagnosis.

scientific article
Molecular genetic characterization of both components of a dedifferentiated chondrosarcoma, with implications for its histogenesis

scientific article published on 01 December 1999
A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features

scientific article published on 17 December 2011
Chromosomal instability in MYH- and APC-mutant adenomatous polyps

scientific article published in March 2006
Insights from genomic microarrays into structural chromosome rearrangements

scientific article published on 01 January 2005
Two distinct regions in 2q24.2-q24.3 associated with idiopathic epilepsy.

scientific article published on 30 September 2010
Molecular cytogenetic characterization of four previously established and two newly established Ewing sarcoma cell lines.

scientific article published on April 2006
TBX6, LHX1 and copy number variations in the complex genetics of Müllerian aplasia

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
Dosage changes of a segment at 17p13.1 lead to intellectual disability and microcephaly as a result of complex genetic interaction of multiple genes

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

scientific 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
A genotypic and histopathological study of a large Dutch kindred with hyperparathyroidism-jaw tumor syndrome

scientific article published on 01 April 2000
A novel t(6;14)(q25-q27;q32) in acute myelocytic leukemia involves the BCL11B gene.

scientific article
Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity.

scientific article published on 18 September 2014
Deletion of the RMGA and CHD2 genes in a child with epilepsy and mental deficiency.

scientific article
High frequency of submicroscopic chromosomal imbalances in patients with syndromic craniosynostosis detected by a combined approach of microsatellite segregation analysis, multiplex ligation-dependent probe amplification and array-based comparative g

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

scientific article
High resolution DNA fiber-fish on yeast artificial chromosomes: direct visualization of DNA replication

scientific article published on 01 August 1995
LINE-1 hypermethylation in peripheral blood of cutaneous melanoma patients is associated with metastasis

scientific article
A novel de novo microdeletion spanning the SYNGAP1 gene on the short arm of chromosome 6 associated with mental retardation

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

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
Constitutional haploinsufficiency of tumor suppressor genes in mentally retarded patients with microdeletions in 17p13.1.

scientific article
Genomic imbalances pinpoint potential oncogenes and tumor suppressors in Wilms tumors.

scientific article published on 24 February 2016
Dual molecular diagnosis contributes to atypical Prader-Willi phenotype in monozygotic twins

scientific article published on 20 June 2017
Li-Fraumeni-like syndrome associated with a large BRCA1 intragenic deletion

scientific article
Interphase cytogenetics and comparative genomic hybridization of human epithelial cancers and precursor lesions

scientific article published on October 1, 1997
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
Genome-wide screening of copy number variants in children born small for gestational age reveals several candidate genes involved in growth pathways.

scientific article published on 30 May 2014
Individuals with abnormal phenotype and normal G-banding karyotype: improvement and limitations in the diagnosis by the use of 24-colour FISH.

scientific article published on April 2000
Nonrandom inactivation of the Y-bearing X chromosome in a 46,XX individual: evidence for the etiology of 46,XX true hermaphroditism

scientific article published on 01 January 1994
Diagnosis of genetic abnormalities in developmentally delayed patients: A new strategy combining MLPA and array-CGH

scientific article published on 01 March 2007
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

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