C. Rosenberg

发表

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

N. Carter, H. Fiegler, H. Tanke, 2005, Journal of Medical Genetics.

Mutations in the APC tumour suppressor gene cause chromosomal instability

H. Clevers, R. Fodde, J. V. Es, 2001, Nature Cell Biology.

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

H. Tanke, A. D. De Schepper, P. Hogendoorn, 2007, Cancer genetics and cytogenetics.

Array‐comparative genomic hybridization of central chondrosarcoma

H. Tanke, A. Cleton-Jansen, P. Hogendoorn, 2006, Cancer.

Genetic alterations on chromosome 16 and 17 are important features of ductal carcinoma in situ of the breast and are associated with histologic type

J. Peterse, M. Vijver, A. Cleton-Jansen, 1999, British Journal of Cancer.

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

A. Hoischen, H. Peeters, E. Eichler, 2014, Genetics in Medicine.

Molecular and clinical insights into complex genomic rearrangements related to MECP2 duplication syndrome.

D. Pehlivan, L. Gusmão, C. Rosenberg, 2021, European journal of medical genetics.

Complex Phenotype Associated with 17q21.31 Microdeletion

A. Pic-Taylor, C. Rosenberg, H. Dornelles-Wawruk, 2013, Molecular Syndromology.

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

Leslie G Biesecker, Swaroop Aradhya, Margaret P Adam, 2010, American journal of human genetics.

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

Fikret Erdogan, Reinhard Ullmann, Wei Chen, 2007, Human mutation.

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

C. Rosenberg, J. Knijnenburg, A. Krepischi-Santos, 2006, Cytogenetic and Genome Research.

Interphase cytogenetics of prostatic tumor progression: specific chromosomal abnormalities are involved in metastasis to the bone.

T. H. van der Kwast, W. Hop, F. Schröder, 1997, Laboratory investigation; a journal of technical methods and pathology.

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

P. Pearson, R. Brentani, A. Vianna-Morgante, 2012, Breast Cancer Research.

Expanding the role of SETD5 haploinsufficiency in neurodevelopment and neuroblastoma

C. Kim, C. Rosenberg, D. Bertola, 2020, Pediatric blood & cancer.

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

Dimitrius T. Pramio, A. Krepischi, D. Carraro, 2015, BioMed research international.

Chromosomal gains and losses in testicular germ cell tumors of adolescents and adults investigated by a modified comparative genomic hybridization approach.

H. Tanke, A. Raap, L. Looijenga, 1999, Laboratory investigation; a journal of technical methods and pathology.

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

I. Kerkis, J. Mazzeu, A. Vianna-Morgante, 2007, American journal of medical genetics. Part A.

Insights Into the Somatic Mutation Burden of Hepatoblastomas From Brazilian Patients

M. Maschietto, D. Carraro, I. Cunha, 2020, Frontiers in Oncology.

Mutational burden of hepatoblastomas: a role for the CX3CL1/CX3CR1 chemokine signaling pathway

M. Maschietto, D. Carraro, I. D. da Cunha, 2019, bioRxiv.

Upregulated genes at 2q24 gains as candidate oncogenes in hepatoblastomas.

D. Carraro, I. D. da Cunha, C. Rosenberg, 2014, Future oncology.

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

P. Pearson, S. Ramos, C. Rosenberg, 2015, International journal of audiology.

Low Frequency of Germline TERT and MITF Mutations in Brazilian Melanoma-Prone Patients

Dimitrius T. Pramio, C. Rosenberg, J. Duprat, 2014 .

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.

H. Tanke, P. Hogendoorn, R. J. Baatenburg de Jong, 2004, Cancer genetics and cytogenetics.

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

J. Mazzeu, A. Vianna-Morgante, C. Lourenço, 2007 .

Genetic investigation of patients with tall stature.

A. Lerário, C. Rosenberg, R. Martin, 2019, European journal of endocrinology.

Cytogenetically visible inversions are formed by multiple molecular mechanisms

A. Breman, J. Lupski, S. Cheung, 2020, Human mutation.

Collybistin binds and inhibits mTORC1 signaling: a potential novel mechanism contributing to intellectual disability and autism

M. Passos-Bueno, K. Griesi-Oliveira, C. Rosenberg, 2015, European Journal of Human Genetics.

Detection of small copy number variations (CNVs) in autism spectrum disorder (ASD) by custom array comparative genomic hybridization (aCGH)

M. Passos-Bueno, M. Zatz, K. Griesi-Oliveira, 2016 .

Fragile X frequency in a mentally retarded population in Brazil.

A. Vianna-Morgante, C. Rosenberg, R. Mingroni-Netto, 1990, American journal of medical genetics.

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

Andrew J Lees, Susan Gribble, Rohan de Silva, 2006, Nature Genetics.

High resolution DNA Fiber–fish on yeast artificial chromosomes: direct visualization of DNA replication

G. V. Ommen, J. D. Dunnen, L. Blonden, 1995, Nature Genetics.

Large germline copy number variations as predisposing factor in childhood neoplasms.

P. Pearson, C. Rosenberg, B. de Camargo, 2014, Future oncology.

Genomic imbalances pinpoint potential oncogenes and tumor suppressors in Wilms tumors

P. Grundy, M. Maschietto, D. Carraro, 2016, Molecular Cytogenetics.

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

M. Passos-Bueno, H. Brentani, J. Kitajima, 2017, PloS one.

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

C. Rosenberg, J. Gurgel-Giannetti, A. Krepischi, 2012, European journal of medical genetics.

Unraveling the Genetic Architecture of Hepatoblastoma Risk: Birth Defects and Increased Burden of Germline Damaging Variants in Gastrointestinal/Renal Cancer Predisposition and DNA Repair Genes

M. Scliar, C. Rosenberg, E. Novak, 2021, Frontiers in Genetics.

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

L. Grinberg, C. Pasqualucci, P. Pearson, 2013, Genetics and molecular biology.

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

P. Hainaut, P. Pearson, A. Krepischi, 2014, Orphanet Journal of Rare Diseases.

Number of rare germline CNVs and TP53 mutation types

P. Pearson, A. Krepischi, C. Rosenberg, 2012, Orphanet Journal of Rare Diseases.

EXPANDING THE PHENOTYPE OF 8p23.1 DELETION SYNDROME: EIGHT NEW CASES RESEMBLING THE CLINICAL SPECTRUM OF 22q11.2 MICRODELETION.

C. Kim, C. Rosenberg, R. Honjo, 2022, The Journal of pediatrics.

Near-haploidy and subsequent polyploidization characterize the progression of peripheral chondrosarcoma.

A. Cleton-Jansen, P. Hogendoorn, J. Bovée, 2000, The American journal of pathology.

Comparison of four genome wide platforms using four overlapping interstitial 2p alterations

J. T. Dunnen, M. Genuardi, E. Lucci-Cordisco, 2007 .

Array-Comparative Genomic Hybridization of Central Chondrosarcoma IdentificationofRibosomalProteinS6andCyclin-DependentKinase4asCandidateTargetGenesforGenomicAberrations

H. Tanke, A. Cleton-Jansen, P. Hogendoorn, 2006 .

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

C. Rosenberg, M. Svartman, N. Linhares, 2013, Meta gene.

Germline BAX Deletion in a Patient With Melanoma and Gastrointestinal Stromal Tumor

P. Pearson, D. Carraro, C. Rosenberg, 2013, The American Journal of Gastroenterology.

Deletion of the centromere as a mechanism for achieving stability of a dicentric chromosome.

C. Rosenberg, A. Vianna-Morgante, A. Vianna‐Morgante, 1986, Cytogenetics and cell genetics.

Detection of mosaicism for segmental and whole chromosome imbalances by targeted sequencing

A. Vianna-Morgante, C. Rosenberg, A. Krepischi, 2020, Annals of human genetics.

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

H. Tanke, A. Haeringen, E. Bakker, 2007, European Journal of Human Genetics.

O2: Diagnosis of genetic abnormalities in developmentally delayed patients: a new strategy combining MLPA and arrayCGH

H. Tanke, S. White, M. Kriek, 2005 .

Pathogenic copy number variants in patients with congenital hypopituitarism associated with complex phenotypes

A. Krepischi, A. Lerário, A. Jorge, 2015, Clinical endocrinology.

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

C. Rosenberg, I. Arnhold, D. Bertola, 2014, European journal of endocrinology.

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

H. Tanke, W. Sloos, D. Brunoni, 2005, Human Genetics.

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

H. Tanke, J. Wiegant, A. Raap, 2000, Genes, chromosomes & cancer.

Comparative genomic hybridization in hypotriploid/hyperdiploid tumors.

H. Tanke, A. Raap, L. Looijenga, 1997, Cytometry.

Atypical presentation of a germline APC mutation in a child with supratentorial primitive neuroectodermal tumor

S. Ezquina, C. Rosenberg, E. Novak, 2018, Pediatric blood & cancer.

Burden of Rare Copy Number Variants in Microcephaly: A Brazilian Cohort of 185 Microcephalic Patients and Review of the Literature.

M. Passos-Bueno, C. Kim, A. Vianna-Morgante, 2022, Journal of autism and developmental disorders.

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

P. Pearson, V. Bezrookove, G. Beverstock, 2003, American journal of medical genetics. Part A.

Comparative genomic hybridization of cancer of the gastroesophageal junction: deletion of 14Q31-32.1 discriminates between esophageal (Barrett's) and gastric cardia adenocarcinomas.

H. Tanke, W. Dinjens, H. van Dekken, 1999, Cancer research.

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

C. Maurer-Morelli, Í. Lopes-Cendes, V. L. Gil-da-Silva-Lopes, 2012, American journal of medical genetics. Part A.

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

C. Kim, F. Jehee, B. Mendonca, 2006, American journal of medical genetics. Part A.

Chromosomal constitution of human spermatocytic seminomas: Comparative genomic hybridization supported by conventional and interphase cytogenetics

H. Tanke, A. Raap, L. Looijenga, 1997, Genes, chromosomes & cancer.

Comparative Genomic and In Situ Hybridization of Germ Cell Tumors of the Infantile Testis

L. Looijenga, W. Oosterhuis, H. Stoop, 2000, Laboratory Investigation.

Overrepresentation of the short arm of chromosome 12 is related to invasive growth of human testicular seminomas and nonseminomas

J W Oosterhuis, L. Looijenga, J. Oosterhuis, 2000, Oncogene.

Nonrandom inactivation of the Y-bearing X chromosome in a 46,XX individual: evidence for the etiology of 46,XX true hermaphroditism.

P. Pearson, G. Stetten, C. Migeon, 1994, Cytogenetics and cell genetics.

Phenotypic spectrum of 45,X/46,XY individuals.

J. Opitz, A. Vianna-Morgante, C. Rosenberg, 1987, American journal of medical genetics.

Isochromosome 1q as the sole chromosomal abnormality in two fetal teratomas. Possible trisomic or tetrasomic zygote rescue in fetal teratoma with an additional isochromosome 1q.

C. Wijmenga, P. Pearson, P. Stoutenbeek, 1999, Cancer genetics and cytogenetics.

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

N. Carter, S. Gribble, E. Prigmore, 2011, American journal of medical genetics. Part A.

Testicular regression in a patient with virilized female phenotype.

C. Rosenberg, Z. Mustacchi, T. Chu, 1984, American journal of medical genetics.

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

P. Marynen, L. Looijenga, A. Verkerk, 1998, Oncogene.

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

P. Ashton-Prolla, D. Carraro, M. Teixeira, 2012, BMC Cancer.

Germline copy number variations and cancer predisposition.

P. Pearson, C. Rosenberg, Ana Cristina Victorino Krepischi, 2012, Future oncology.

A novel MYT1L mutation in a boy with syndromic obesity: Case report and literature review.

C. Rosenberg, I. T. da Silva, A. Krepischi, 2021, Obesity research & clinical practice.

Understanding the Landscape of X-linked Variants Causing Intellectual Disability in Females Through Extreme X Chromosome Inactivation Skewing

M. Ribeiro, C. Rosenberg, E. Medina-Acosta, 2020, Molecular Neurobiology.

Origin of chromosome rearrangements in two long-lived human keratinocyte lines

P. Pearson, G. Stetten, J. Littlefield, 1991, In Vitro Cellular & Developmental Biology - Animal.

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

Hans Tanke, Anton K. Raap, Martijn H. Breuning, 2000, Human Genetics.

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

S. Antonarakis, P. Pearson, G. Stetten, 1993, American journal of medical genetics.

Analysis of reciprocal translocations by chromosome painting: applications and limitations of the technique.

P. Pearson, K. Blakemore, G. Stetten, 1992, American journal of human genetics.

Copy number variations in a Brazilian cohort with autism spectrum disorders highlight the contribution of cell adhesion genes

S. Scherer, M. Passos-Bueno, A. Vianna-Morgante, 2021, Clinical genetics.

Molecular and cellular basis of hyperassembly and protein aggregation driven by a rare pathogenic mutation in DDX3X

Helder Veras Ribeiro Filho, João Vitor Pereira de Godoy, H. Westfahl, 2021, iScience.

TET Upregulation Leads to 5-Hydroxymethylation Enrichment in Hepatoblastoma

D. Carraro, I. D. da Cunha, C. Rosenberg, 2019, Front. Genet..

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

D. Carraro, C. Rosenberg, A. Krepischi, 2014, Tumor Biology.

The genetic and epigenetic landscapes of hepatoblastomas

I. Cunha, C. Rosenberg, A. Krepischi, 2017, Applied Cancer Research.

High OCT4A levels drive tumorigenicity and metastatic potential of medulloblastoma cells

M. C. Teixeira dos Santos, C. Rosenberg, O. Okamoto, 2017, Oncotarget.

Genomic profiling by DNA amplification of laser capture microdissected tissues and array CGH.

Renée X de Menezes, Riccardo Fodde, Hans Morreau, 2004, Nucleic acids research.

Array-based comparative genomic hybridization analysis reveals recurrent chromosomal alterations and prognostic parameters in primary cutaneous large B-cell lymphoma.

E. Jordanova, A. Raap, R. Willemze, 2006, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

Identification of Genetic Markers for Prostatic Cancer Progression

H. Tanke, C. Rosenberg, R. Kranse, 2000, Laboratory Investigation.

Perturbations of genes essential for Müllerian duct and Wölffian duct development in Mayer-Rokitansky-Küster-Hauser syndrome.

J. Lupski, R. Gibbs, S. Jhangiani, 2021, American journal of human genetics.

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

H. van Dekken, C. Rosenberg, J. Alers, 1997, Histochemistry and Cell Biology.

Clinical and molecular delineation of the 17q21.31 microdeletion syndrome

L. Vissers, B. D. de Vries, E. Eichler, 2008, Journal of Medical Genetics.

Insights from the genetic characterization of central precocious puberty associated with multiple anomalies.

F. de Zegher, C. Kim, A. Latronico, 2020, Human reproduction.

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

N. Carter, H. Fiegler, H. Tanke, 2006, Human Genetics.

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

K. Aittomäki, L. Morin-Papunen, H. Laivuori, 2013, Orphanet Journal of Rare Diseases.

A novel KCNQ4 mutation and a private IMMP2L-DOCK4 duplication segregating with nonsyndromic hearing loss in a Brazilian family

J. Mazzeu, C. Rosenberg, R. Mingroni-Netto, 2015, Human Genome Variation.

Chromosomal microarray analyses from 5,778 patients with neurodevelopmental disorders and congenital anomalies in Brazil

P. Pearson, A. Vianna-Morgante, M. Migliavacca, 2022, medRxiv.

Congenital chromoanagenesis in the routine postnatal chromosomal microarray analyses

P. Pearson, L. Ribeiro-Bicudo, A. Vianna-Morgante, 2021, American journal of medical genetics. Part A.

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

P. Marynen, R. Stevenson, C. Schwartz, 2008, Genome research.

Genomic imbalances associated with müllerian aplasia

C. Kim, C. Rosenberg, P. Otto, 2007, Journal of Medical Genetics.

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

A. Vianna-Morgante, C. Rosenberg, A. Krepischi, 2017, European journal of medical genetics.

Recurrent Copy Number Variants Associated with Syndromic Short Stature of Unknown Cause

Bruna L. Freire, Rosimeire A. Roela, C. Kim, 2017, Hormone Research in Paediatrics.

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

Charles Lee, M. Milá, L. Rodriguez-Revenga, 2007, Genetics in Medicine.

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

W. Sloos, M. Passos-Bueno, P. Pearson, 2006, Cytogenetic and Genome Research.

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

J. Lupski, R. Gibbs, S. Jhangiani, 2017, American journal of medical genetics. Part A.

Utility of trio-based exome sequencing in the elucidation of the genetic basis of isolated syndromic intellectual disability: illustrative cases

Renan Valieris, A. Vianna-Morgante, S. Ezquina, 2018, The application of clinical genetics.

C. Rosenberg, P. Otto, A. Krepischi, 2022, American journal of medical genetics. Part A.

Two novel pathogenic variants in MED13L: one familial and one isolated case.

C. Rosenberg, D. Bertola, I. T. da Silva, 2021, Journal of intellectual disability research : JIDR.

aplasiaimbalances associated with müllerian

C. Kim, C. Rosenberg, P. Otto, 2008 .

aplasia Genomic imbalances associated with mllerian

C. Kim, C. Rosenberg, P. Otto, 2008 .

Molecular cytogenetic evaluation of gastric cardia adenocarcinoma and precursor lesions.

P. Riegman, H. van Dekken, C. Rosenberg, 2001, The American journal of pathology.

Clonal analysis of a case of multifocal oesophageal (Barrett's) adenocarcinoma by comparative genomic hybridization

H. Tanke, H. Tanke, H. van Dekken, 1999, The Journal of pathology.

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

H. Tanke, W. Kuo, H. van Dekken, 2006, Cancer genetics and cytogenetics.

Array-CGH testing in spontaneous abortions with normal karyotypes

C. Rosenberg, S. Costa, C. Borovik, 2008 .

Constitutional Haploinsufficiency of Tumor Suppressor Genes in Mentally Retarded Patients With Microdeletions in 17p13.1

N. Carter, J. Crolla, A. Vianna-Morgante, 2009, Cytogenetic and Genome Research.

Chromosomal instability in MYH- and APC-mutant adenomatous polyps.

H. Morreau, R. Fodde, J. Boer, 2006, Cancer research.

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

J. Opitz, M. Passos-Bueno, F. Jehee, 2005, American journal of medical genetics. Part A.

An Xq 22 . 3 Duplication Detected by Comparative Genomic Hybridization Microarray ( Array-CGH ) Defines a New Locus ( FGS 5 ) for FG Syndrome

J. Opitz, M. Passos-Bueno, F. Jehee, 2005 .

Germline Genomic Copy Number Variation Contribution to Cancer Predisposition

P. Pearson, C. Rosenberg, A. Krepischi, 2013 .

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

H. Tanke, P. Hogendoorn, C. Rosenberg, 2006, Cancer genetics and cytogenetics.

Array comparative genomic hybridization with cyanin cis-platinum-labeled DNAs.

H. Tanke, J. Gray, J. Hodgson, 2004, BioTechniques.

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

H. Tanke, W. Dinjens, P. Pearson, 2002, Cancer genetics and cytogenetics.

Partial 1q Duplications and Associated Phenotype

A. Pic-Taylor, J. Mazzeu, J. Baroneza, 2016, Molecular Syndromology.

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

R Pfundt, L Colleaux, N. de Leeuw, 2011, Journal of Medical Genetics.

Universal linkage system: An improved method for labeling archival DNA for comparative genomic hybridization

A. Raap, H. van Dekken, C. Rosenberg, 1999, Genes, chromosomes & cancer.

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

C. Rosenberg, A. Krepischi, Anupama Vasudevan, 2013, Medical Oncology.

Craniosynostosis in 10q26 deletion patients: A consequence of brain underdevelopment or altered suture biology?

M. Passos-Bueno, N. Lourenço, C. Rosenberg, 2016, American journal of medical genetics. Part A.

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

H. Tanke, R. Offringa, J. Wiegant, 2002, Cancer genetics and cytogenetics.

An Apparently Balanced Complex Chromosome Rearrangement Involving Seven Breaks and Four Chromosomes in a Healthy Female and Segregation/Recombination in Her Affected Son

M. Migliavacca, C. Rosenberg, F. Milanezi, 2021, Molecular Syndromology.

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

J. Lupski, S. Cheung, N. Katsanis, 2014, American journal of human genetics.

architecture-driven DNA breaks and break-induced replication duplications mediated by genomicMECP 2 Nonrecurrent Material Supplemental

P. Marynen, R. Stevenson, C. Schwartz, 2008 .

Increased DNA Copy Number Variation Mosaicism in Elderly Human Brain

L. Grinberg, R. Leite, C. Pasqualucci, 2018, Neural plasticity.

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

C. Rosenberg, M. Svartman, N. Linhares, 2015, European journal of medical genetics.

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

P. Pearson, A. Vianna-Morgante, E. Bijlsma, 2010, Epilepsia.

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

Shuwen Huang, J. Crolla, A. Vianna-Morgante, 2010, American journal of medical genetics. Part A.

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

H. van Bokhoven, C. Rosenberg, K. Szuhai, 2010, Clinical genetics.

Recurrent deletion of ZNF630 at Xp11.23 is not associated with mental retardation

R. Pfundt, J. Gécz, M. Stratton, 2010, American journal of medical genetics. Part A.

Chromosome imbalances in syndromic hearing loss

C. Rosenberg, J. Knijnenburg, P. Otto, 2009, Clinical genetics.

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 genome hybridisation

M. Passos-Bueno, C. Kim, F. Jehee, 2008, Journal of Medical Genetics.

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

H. Tanke, J. D. den Dunnen, G. V. van Ommen, 2007, American journal of medical genetics. Part A.

A 6Mb deletion in band 2q22 due to a complex chromosome rearrangement associated with severe psychomotor retardation, microcephaly and distinctive dysmorphic facial features.

E. Bakker, Y. Hilhorst‐Hofstee, L. Laan, 2007, European journal of medical genetics.

Subtelomeric 6 p 25 deletion / duplication : Report of a patient with new clinical fi ndings and genotype e phenotype correlations

C. Rosenberg, M. Svartman, N. Linhares, 2022 .

Insights from genomic microarrays into structural chromosome rearrangements

H. Tanke, W. Sloos, M. Poot, 2005, American journal of medical genetics. Part A.

Mining Novel Candidate Imprinted Genes Using Genome-Wide Methylation Screening and Literature Review

L. Grinberg, C. Pasqualucci, A. Vianna-Morgante, 2017 .

Molecular and clinical delineation of the 17q22 microdeletion phenotype

S. Knight, A. Nordgren, S. Price, 2013, European Journal of Human Genetics.

RB1 deletion in gonadoblastoma in an XY female

A. Vianna-Morgante, C. Rosenberg, C. Moreira-Filho, 1997, Human Genetics.

Congenital limb deficiency: Genetic investigation of 44 individuals presenting mainly longitudinal defects in isolated or syndromic forms

M. Passos-Bueno, C. Kim, G. Yamamoto, 2021, Clinical genetics.

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

S. Gribble, E. Prigmore, P. Pearson, 2012, European journal of medical genetics.

Genomic copy number alterations in non‐syndromic hearing loss

C. Rosenberg, A. Krepischi, S. Costa, 2015, Clinical genetics.

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

C. Rosenberg, L. Sichero, C. Borovik, 1995, American journal of medical genetics.

Functional characteristics of a broad spectrum of TBX6 variants in Mayer-Rokitansky-Küster-Hauser syndrome.

J. Lupski, R. Gibbs, S. Jhangiani, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Deletion of the short arm of chromosome 20

A. Richieri‐Costa, C. Rosenberg, A. Vianna-Morgante, 1987, Clinical genetics.

A Brazilian cohort of individuals with Phelan-McDermid syndrome: genotype-phenotype correlation and identification of an atypical case

M. Passos-Bueno, A. Pessoa, A. Krepischi, 2019, Journal of Neurodevelopmental Disorders.

Copy Number Alterations in Hepatoblastoma: Literature Review and a Brazilian Cohort Analysis Highlight New Biological Pathways

Juliana Sobral de Barros, A. Vianna-Morgante, D. Carraro, 2021, Frontiers in Oncology.

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

S. Pittaluga, A. Hagemeijer, A. Raap, 1997, Leukemia.

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

M. Lier, A. Brøgger, J. Nesland, 1994, Cancer genetics and cytogenetics.

Genome-wide DNA methylation profile of leukocytes from melanoma patients with and without CDKN 2 A mutations

H. Brentani, H. Vieira, D. Carraro, 2019 .

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

H. Brentani, H. Vieira, D. Carraro, 2014, Experimental and molecular pathology.

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

A. Vianna-Morgante, C. Rosenberg, M. Svartman, 2016, Meta gene.

DNA methylation landscape of hepatoblastomas reveals arrest at early stages of liver differentiation and cancer-related alterations

P. Pearson, L. dos Reis Vasques, H. Brentani, 2016, Oncotarget.

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

L. Grinberg, C. Pasqualucci, C. Suemoto, 2016, Neural plasticity.

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

L. Grinberg, C. Pasqualucci, C. Suemoto, 2016 .

DNA methylation landscape of hepatoblastomas reveals arrest at early stages of liver differentiation and cancer-related alterations.

H. Brentani, M. Maschietto, D. Carraro, 2016, Oncotarget.

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

A. Cleton-Jansen, P. Hogendoorn, A. Taminiau, 1999, The Journal of pathology.

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

H. Tanke, P. Hogendoorn, C. Rosenberg, 2004, Modern Pathology.

Analysis ofReciprocal Translocations byChromosomePainting: Applications andLimitations oftheTechnique

P. Pearson, K. Blakemore, C. Rosenberg, 1992 .

Differentially painting human chromosome arms with combined binary ratio-labeling fluorescence in situ hybridization.

M. Bittner, P. Meltzer, J. Trent, 2000, Genome research.

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

A. Raap, V. Bezrookove, G. Beverstock, 2004, Cancer genetics and cytogenetics.

Comparative genomic hybridization with lissamine- and fluorescein-labeled nucleotides.

J. Wiegant, A. Raap, H. Tanke, 1998, Cytometry.

Role of rare germline copy number variation in melanoma-prone patients.

Felipe Fidalgo, Dirce Maria Carraro, Maria Isabel Achatz, 2016, Future oncology.

Selection of adrenal tumor cells in culture demonstrated by interphase cytogenetics.

A. Latronico, C. Rosenberg, B. Mendonca, 1995, Cancer genetics and cytogenetics.

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

A. Børresen, C. Rosenberg, A. Vianna-Morgante, 1994, Cytogenetics and cell genetics.

Chromosomal instability in fibroblasts and mesenchymal tumors from 2 sibs with Rothmund‐Thomson syndrome

J. Wiegant, L. Dalprà, M. Miozzo, 1998, International journal of cancer.

DNA METHYLATION AS A KEY EPIGENETICS PLAYER FOR HEPATOBLASTOMA CHARACTERIZATION.

M. Maschietto, D. Carraro, I. D. da Cunha, 2021, Clinics and research in hepatology and gastroenterology.

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

G. V. Ommen, J. T. Dunnen, M. Passos-Bueno, 1998, Neuromuscular Disorders.

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

J. Mosser, J. Andrieux, C. Treguier, 2011, American journal of medical genetics. Part A.

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

M. Brentani, R. Rocha, D. Carraro, 2012, Translational oncology.

A de novo em ~1.3 Mb microdeletion at 17q11.2 associated with Neurofibromatosis-Noonan syndrome

C. Rosenberg, A. Cristina, B. Camargo, 2012 .

Cleft Lip/Palate, Short Stature, and Developmental Delay in a Boy with a 5.6-Mb Interstitial Deletion Involving 10p15.3p14

L. Ribeiro-Bicudo, A. Richieri‐Costa, C. Rosenberg, 2015, Molecular Syndromology.

A microdeletion in Alzheimer’s disease disrupts NAMPT gene

L. Grinberg, C. Suemoto, C. Rosenberg, 2014, Journal of Genetics.

Genome-wide profiling of copy number alterations in triple-negative breast cancer identifies a region at 19p13 associated with lymph node metastasis

D. Carraro, C. Rosenberg, A. Krepischi, 2013, BMC Proceedings.

563 Genome-wide Profiling of Copy Number Alterations in Triple-negative Breast Cancer Identifies a Region at 19p13 Associated With Lymph Node Metastasis

D. Carraro, C. Rosenberg, A. Krepischi, 2012 .

Mechanistic insights revealed by a UBE2A mutation linked to intellectual disability

R. Klevit, M. Maschietto, K. Franchini, 2018, Nature Chemical Biology.

Down-regulation of ANAPC 13 and CLTCL 1 : Early Events in the Progression of Preinvasive Ductal Carcinoma of the Breast 1 , 2

M. Brentani, R. Rocha, D. Carraro, 2012 .

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

C. Rosenberg, L. Pereira, S. Costa, 2015, PloS one.

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

P. Pearson, D. Lindhout, B. Poll-The, 2001, European Journal of Human Genetics.

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

L. Grinberg, C. Pasqualucci, C. Suemoto, 2016, Front. Genet..

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

V. L. Gil-da-Silva-Lopes, M. Simioni, C. Rosenberg, 2016, American journal of medical genetics. Part A.

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

P. Pearson, A. Vianna-Morgante, C. Rosenberg, 2018, Chromosome Research.

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

C. Rosenberg, R. Bittar, R. Mingroni-Netto, 2014, European journal of medical genetics.

Hepatoblastomas exhibit marked NNMT downregulation driven by promoter DNA hypermethylation

P. Pearson, M. Maschietto, D. Carraro, 2020, Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine.

Interstitial 1q21.1 Microdeletion Is Associated with Severe Skeletal Anomalies, Dysmorphic Face and Moderate Intellectual Disability

Siulan Vendramini-Pittoli, R. Zechi-Ceide, L. Ribeiro-Bicudo, 2016, Molecular Syndromology.

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

D. Carraro, C. Rosenberg, M. Achatz, 2015, Melanoma research.

Investigating Genetic Factors Contributing to Variable Expressivity of Class I 17p13.3 Microduplication

A. Vianna-Morgante, M. Scliar, C. Rosenberg, 2021, International journal of molecular and cellular medicine.

Skewed X-chromosome Inactivation in Women with Idiopathic Intellectual Disability is Indicative of Pathogenic Variants

A. Vianna-Morgante, C. Rosenberg, P. Otto, 2023, Molecular Neurobiology.

Invited Lectures

L. Shaffer, Y. Fukushima, J. Barber, 2009, Chromosome Research.

FRAXF in a patient with chromosome 8 duplication.

A. Vianna-Morgante, C. Rosenberg, P. Otto, 1996, Journal of medical genetics.

Effect of X inactivation on fragile X frequency and mental retardation.

C. Rosenberg, P. Otto, L. Navajas, 1991, American journal of medical genetics.

Molecular and Cellular Basis of Hyper-Assembly, Protein Aggregation and Impaired Neurodevelopment Driven by a Rare Pathogenic Mutation in DDX3X

Helder Veras Ribeiro Filho, Dionísio Pedro Amorim Neto, H. Westfahl, 2021 .

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

L. Ribeiro-Bicudo, A. Richieri‐Costa, C. Rosenberg, 2015, Molecular Genetics and Genomics.

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

M. Passos-Bueno, P. Pearson, C. Rosenberg, 2013, European journal of medical genetics.

A microduplication of 5 p 15 . 33 reveals CLPTM 1 L as a candidate gene for cleft lip and palate

M. Passos-Bueno, P. Pearson, C. Rosenberg, 2013 .

Transcriptome of iPSC-derived neuronal cells reveals a module of co-expressed genes consistently associated with autism spectrum disorder

M. Passos-Bueno, D. Martins‐de‐Souza, I. Voineagu, 2020, Molecular Psychiatry.

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

D. O. Vidal, M. Maschietto, C. Rosenberg, 2013, Medical Oncology.

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

C. Larsson, B. Teh, C. V. van Asperen, 2000, The Journal of clinical endocrinology and metabolism.

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

Ryan E. Mills, M. Zatz, P. Pearson, 2013, European Journal of Human Genetics.

KIF11 microdeletion is associated with microcephaly, chorioretinopathy and intellectual disability

A. Vianna-Morgante, A. Krepischi, C. Rosenberg, 2018, Human Genome Variation.

Chromosomal microarray analyses from 5778 patients with neurodevelopmental disorders and congenital anomalies in Brazil

P. Pearson, A. Vianna-Morgante, M. Migliavacca, 2022, Scientific Reports.

Germline copy number variations and cancer predisposition.

P. Pearson, C. Rosenberg, A. Krepischi, 2012, Future oncology.

Contents Vol. 7, 2016

M. Mussini, M. Poot, Siulan Vendramini-Pittoli, 2016, Molecular Syndromology.

Upregulated genes at 2q24 gains as candidate oncogenes in hepatoblastomas.

D. Carraro, I. D. da Cunha, C. Rosenberg, 2014, Future oncology.

Cleft Lip/Palate, Short Stature, and Developmental Delay in a Boy with a 5.6-Mb Interstitial Deletion Involving 10p15.3p14

L. Ribeiro-Bicudo, A. Richieri‐Costa, C. Rosenberg, 2015, Molecular Syndromology.