List of works - Carla Rosenberg

5q12.1 deletion: Delineation of a phenotype including mental retardation and ocular defects

scientific article published on 15 March 2011

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

scientific article

A Euploid Line of Human Embryonic Stem Cells Derived from a 43,XX,dup(9q),+12,-14,-15,-18,-21 Embryo

scientific article published on 5 November 2015

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 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 familial case with interstitial 2q36 deletion: Variable phenotypic expression in full and mosaic state

scientific article published on 20 July 2012

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

scientific article published on 01 April 2000

A microduplication of 5p15.33 reveals CLPTM1L as a candidate gene for cleft lip and palate.

scientific article published on 8 February 2013

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

article

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

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

scientific article

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

scientific article

Application of multicolor fluorescence in situ hybridization analysis for detection of cross-contamination and in vitro progression in commonly used murine tumor cell lines

scientific article published on December 2002

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

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

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

article

Array-CGH as an adjuvant tool in cytogenetic diagnosis of pediatric MDS and JMML.

scientific article published on 2 October 2013

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

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

Chromosomal instability in MYH- and APC-mutant adenomatous polyps

scientific article published in March 2006

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

scientific article published on 01 August 2007

Chromothripsis with at least 12 breaks at 1p36.33-p35.3 in a boy with multiple congenital anomalies.

scientific article published on 4 June 2015

Claes Lundsteen—in Memoriam

Clinical diagnosis of heterozygous dystrophin gene deletions by fluorescence in situ hybridization

scientific article published on 01 October 1998

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

scientific article published in July 2000

Complex phenotype associated with 17q21.31 microdeletion.

scientific article published on 21 August 2013

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)

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

scientific article

DNA Methylation Levels of Melanoma Risk Genes Are Associated with Clinical Characteristics of Melanoma Patients

scientific article

Deletion of the RMGA and CHD2 genes in a child with epilepsy and mental deficiency.

scientific article

Deletion of the entire POU4F3 gene in a familial case of autosomal dominant non-syndromic hearing loss.

scientific article published on 18 February 2014

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

scientific article published on 20 January 2010

Dental developmental abnormalities in a patient with subtelomeric 7q36 deletion syndrome may confirm a novel role for the SHH gene

scientific article published on 4 December 2013

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

Differential DNA Methylation of MicroRNA Genes in Temporal Cortex from Alzheimer's Disease Individuals.

scientific article published on 26 April 2016

Do Copy Number Changes in CACNA2D2, CACNA2D3, and CACNA1D Constitute a Predisposing Risk Factor for Alzheimer's Disease?

scientific article published on 14 June 2016

Does germ-line deletion of the PIP gene constitute a widespread risk for cancer?

scientific article published on 19 June 2013

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

Down-regulation of ANAPC13 and CLTCL1: Early Events in the Progression of Preinvasive Ductal Carcinoma of the Breast

scientific article published in April 2012

Dual molecular diagnosis contributes to atypical Prader-Willi phenotype in monozygotic twins

scientific article published on 20 June 2017

Efficient detection of chromosome imbalances and single nucleotide variants using targeted sequencing in the clinical setting.

scientific article published on 4 September 2017

Fragile X frequency in a mentally retarded population in Brazil.

scientific article published in January 1990

Genetic alterations of chromosome 17 in human breast carcinoma studied by fluorescence in situ hybridization and molecular DNA techniques

scientific article published on 01 July 1994

Genome-wide DNA methylation profile of leukocytes from melanoma patients with and without CDKN2A mutations

scientific article published on 16 September 2014

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

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 imbalances pinpoint potential oncogenes and tumor suppressors in Wilms tumors.

scientific article published on 24 February 2016

Genotype-phenotype correlation of 16p13.3 terminal duplication and 22q13.33 deletion: Natural history of a patient and review of the literature

scientific article published on 07 December 2015

Germline BAX deletion in a patient with melanoma and gastrointestinal stromal tumor

scientific article published in August 2013

Germline DNA copy number variation in familial and early-onset breast cancer

scientific article

Germline DNA copy number variation in individuals with Argyrophilic grain disease reveals CTNS as a plausible candidate gene

scientific article published on 8 November 2013

Germline copy number variations and cancer predisposition.

scientific article published on April 2012

High OCT4A levels drive tumorigenicity and metastatic potential of medulloblastoma cells

scientific article published on 07 February 2017

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

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

scientific article published on 01 August 1995

Identification of a supernumerary marker derived from chromosome 17 using FISH.

scientific article published in October 1995

Identification of genetic markers for prostatic cancer progression

scientific article published on 01 June 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

Increased DNA Copy Number Variation Mosaicism in Elderly Human Brain.

scientific article published on 28 June 2018

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

Inherited Xq13.2-q21.31 duplication in a boy with recurrent seizures and pubertal gynecomastia: Clinical, chromosomal and aCGH characterization.

scientific article published on 07 July 2016

Insertional translocation of 15q25-q26 into 11p13 and duplication at 8p23.1 characterized by high resolution arrays in a boy with congenital malformations and aniridia

scientific article published on 18 September 2012

Insight into the mechanisms and consequences of recurrent telomere capture associated with a sub-telomeric deletion

scientific article published on 12 May 2018

Insights from genomic microarrays into structural chromosome rearrangements

scientific article published on 01 January 2005

Integrative Variation Analysis Reveals that a Complex Genotype May Specify Phenotype in Siblings with Syndromic Autism Spectrum Disorder

scientific article

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

scientific article published on October 1, 1997

Intragenic reorganization of RB1 in a complex (4;13) rearrangement demonstrated by FISH.

scientific article published on January 1994

Isochromosome 1q as the Sole Chromosomal Abnormality in Two Fetal Teratomas

article

LINE-1 hypermethylation in peripheral blood of cutaneous melanoma patients is associated with metastasis

scientific article

Large germline copy number variations as predisposing factor in childhood neoplasms

scientific article published on January 2014

Li-Fraumeni-like syndrome associated with a large BRCA1 intragenic deletion

scientific article

Lymphovascular invasion and histologic grade are associated with specific genomic profiles in invasive carcinomas of the breast

scientific article

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

Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability

scientific article

Molecular and clinical delineation of the 17q22 microdeletion phenotype

scientific article published on 30 January 2013

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

scientific article published on April 2006

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

scientific article published on 01 December 1999

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 supernumerary ring chromosomes of different origin in a patient: a clinical report and review of the literature

scientific article published on 01 October 2003

Mutations in the APC tumour suppressor gene cause chromosomal instability

scientific article published in April 2001

Non-overlapping 22q11.2 microdeletions in patients with oculo-auriculo-vertebral spectrum

scientific article published on 05 December 2013

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

Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair.

scientific article

Novel partial duplication of EYA1 causes branchiootic syndrome in a large Brazilian family

scientific article published on 30 April 2015

Number of rare germline CNVs and TP53 mutation types ⬇️

scientific article published on December 21, 2012

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

Partial 1q Duplications and Associated Phenotype.

scientific article

Phenotypic spectrum of 45,X/46,XY individuals

scientific article published on 01 July 1987

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

RB1 deletion in gonadoblastoma in an XY female

scientific article published on 01 December 1997

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

scientific article published on 01 March 2010

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

scientific article published on 18 September 2014

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 rare germline copy number variation in melanoma-prone patients

scientific article

Selection of adrenal tumor cells in culture demonstrated by interphase cytogenetics

article

Short Report - Clinical Genetics Genomic copy number alterations in non-syndromic hearing loss

scientific article published on 12 October 2015

Single-nucleotide polymorphism-array improves detection rate of genomic alterations in core-binding factor leukemia.

scientific article published on May 2013

Spectrum of genetic changes in gastro-esophageal cancer cell lines determined by an integrated molecular cytogenetic approach

scientific article published on 01 May 2002

Structural variation in the human genome: the impact of copy number variants on clinical diagnosis.

scientific article

Subtelomeric 6p25 deletion/duplication: Report of a patient with new clinical findings and genotype-phenotype correlations.

scientific article published on 24 March 2015

TBX6, LHX1 and copy number variations in the complex genetics of Müllerian aplasia

scientific article

Testicular regression in a patient with virilized female phenotype

scientific article published on 01 September 1984

The profile and contribution of rare germline copy number variants to cancer risk in Li-Fraumeni patients negative for TP53 mutations.

scientific article

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

scientific article published on 30 September 2010

Unbalanced translocation, t(18;21), detected by fluorescence in situ hybridization (FISH) in a child with 18q- syndrome and a ring chromosome 21.

scientific article published on July 1993

Upregulated genes at 2q24 gains as candidate oncogenes in hepatoblastomas

scientific article published on December 2014

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 Carla Rosenberg

5q12.1 deletion: Delineation of a phenotype including mental retardation and ocular defects

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

A Euploid Line of Human Embryonic Stem Cells Derived from a 43,XX,dup(9q),+12,-14,-15,-18,-21 Embryo

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

A familial case with interstitial 2q36 deletion: Variable phenotypic expression in full and mosaic state

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

A microduplication of 5p15.33 reveals CLPTM1L as a candidate gene for cleft lip and palate.

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

A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features

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

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

Application of multicolor fluorescence in situ hybridization analysis for detection of cross-contamination and in vitro progression in commonly used murine tumor cell lines

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

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

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

Array-CGH as an adjuvant tool in cytogenetic diagnosis of pediatric MDS and JMML.

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

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

Chromosomal instability in MYH- and APC-mutant adenomatous polyps

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

Chromothripsis with at least 12 breaks at 1p36.33-p35.3 in a boy with multiple congenital anomalies.

Claes Lundsteen—in Memoriam

Clinical diagnosis of heterozygous dystrophin gene deletions by fluorescence in situ hybridization

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

Complex phenotype associated with 17q21.31 microdeletion.

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

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

DNA Methylation Levels of Melanoma Risk Genes Are Associated with Clinical Characteristics of Melanoma Patients

Deletion of the RMGA and CHD2 genes in a child with epilepsy and mental deficiency.

Deletion of the entire POU4F3 gene in a familial case of autosomal dominant non-syndromic hearing loss.

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

Dental developmental abnormalities in a patient with subtelomeric 7q36 deletion syndrome may confirm a novel role for the SHH gene

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

Differential DNA Methylation of MicroRNA Genes in Temporal Cortex from Alzheimer's Disease Individuals.

Do Copy Number Changes in CACNA2D2, CACNA2D3, and CACNA1D Constitute a Predisposing Risk Factor for Alzheimer's Disease?

Does germ-line deletion of the PIP gene constitute a widespread risk for cancer?

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

Down-regulation of ANAPC13 and CLTCL1: Early Events in the Progression of Preinvasive Ductal Carcinoma of the Breast

Dual molecular diagnosis contributes to atypical Prader-Willi phenotype in monozygotic twins

Efficient detection of chromosome imbalances and single nucleotide variants using targeted sequencing in the clinical setting.

Fragile X frequency in a mentally retarded population in Brazil.

Genetic alterations of chromosome 17 in human breast carcinoma studied by fluorescence in situ hybridization and molecular DNA techniques

Genome-wide DNA methylation profile of leukocytes from melanoma patients with and without CDKN2A mutations

Genome-wide screening of copy number variants in children born small for gestational age reveals several candidate genes involved in growth pathways.

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

Genomic imbalances associated with mullerian aplasia

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

Genotype-phenotype correlation of 16p13.3 terminal duplication and 22q13.33 deletion: Natural history of a patient and review of the literature

Germline BAX deletion in a patient with melanoma and gastrointestinal stromal tumor

Germline DNA copy number variation in familial and early-onset breast cancer

Germline DNA copy number variation in individuals with Argyrophilic grain disease reveals CTNS as a plausible candidate gene

Germline copy number variations and cancer predisposition.

High OCT4A levels drive tumorigenicity and metastatic potential of medulloblastoma cells

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

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

Identification of a supernumerary marker derived from chromosome 17 using FISH.

Identification of genetic markers for prostatic cancer progression

Identification of the critical region of 12p over-representation in testicular germ cell tumors of adolescents and adults.

Increased DNA Copy Number Variation Mosaicism in Elderly Human Brain.

Individuals with abnormal phenotype and normal G-banding karyotype: improvement and limitations in the diagnosis by the use of 24-colour FISH.

Inherited Xq13.2-q21.31 duplication in a boy with recurrent seizures and pubertal gynecomastia: Clinical, chromosomal and aCGH characterization.

Insertional translocation of 15q25-q26 into 11p13 and duplication at 8p23.1 characterized by high resolution arrays in a boy with congenital malformations and aniridia

Insight into the mechanisms and consequences of recurrent telomere capture associated with a sub-telomeric deletion

Insights from genomic microarrays into structural chromosome rearrangements

Integrative Variation Analysis Reveals that a Complex Genotype May Specify Phenotype in Siblings with Syndromic Autism Spectrum Disorder

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

Intragenic reorganization of RB1 in a complex (4;13) rearrangement demonstrated by FISH.

Isochromosome 1q as the Sole Chromosomal Abnormality in Two Fetal Teratomas

LINE-1 hypermethylation in peripheral blood of cutaneous melanoma patients is associated with metastasis

Large germline copy number variations as predisposing factor in childhood neoplasms

Li-Fraumeni-like syndrome associated with a large BRCA1 intragenic deletion

Lymphovascular invasion and histologic grade are associated with specific genomic profiles in invasive carcinomas of the breast

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

Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability

Molecular and clinical delineation of the 17q22 microdeletion phenotype

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

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