C. Surace

发表

A novel FISH assay for SS18–SSX fusion type in synovial sarcoma

M. Rocchi, F. Mertens, N. Mandahl, 2004, Laboratory Investigation.

Molecular cytogenetic characterization of an ins(4;X) occurring as the sole abnormality in an aggressive, poorly differentiated soft tissue sarcoma

M. Rocchi, F. Mertens, N. Mandahl, 2005, Virchows Archiv.

High-Resolution Array CGH Profiling Identifies Na/K Transporting ATPase Interacting 2 (NKAIN2) as a Predisposing Candidate Gene in Neuroblastoma

R. Boldrini, M. D. De Ioris, F. Locatelli, 2013, PloS one.

Molecular cytogenetic resources for chromosome 4 and comparative analysis of phylogenetic chromosome IV in great apes.

M. Mancini, N. Archidiacono, M. Rocchi, 2000, Genomics.

Atrioventricular canal defect in patients with RASopathies

M. Digilio, B. Dallapiccola, M. Tartaglia, 2012, European Journal of Human Genetics.

Clinical hallmarks and genetic polymorphisms in the CFTR gene contribute to the disclosure of the A1006E mutation.

V. Lucidi, S. Bella, C. Surace, 2010, Clinical and investigative medicine. Medecine clinique et experimentale.

Fluorescent in situ hybridization (FISH) reveals frequent and recurrent numerical and structural abnormalities in hepatoblastoma with no informative karyotype.

M. Rocchi, G. Basso, G. Perilongo, 2002, Medical and pediatric oncology.

Masked complex chromosome rearrangement in a child thought to have del(8qter) as the sole cytogenetic abnormality

R. Capolino, C. Surace, M. Digilio, 2008, Cytogenetic and Genome Research.

RABGAP1L gene rearrangement resulting from a der(Y)t(Y;1)(q12;q25) in acute myeloid leukemia arising in a child with Klinefelter syndrome

C. Mecucci, R. L. Starza, C. Surace, 2009, Virchows Archiv.

Mild ring 17 syndrome shares common phenotypic features irrespective of the chromosomal breakpoints location

R. Capolino, C. Surace, M. Digilio, 2009, Clinical genetics.

MYC-containing double minutes in hematologic malignancies: evidence in favor of the episome model and exclusion of MYC as the target gene.

M. Rocchi, B. Johansson, A. Hagemeijer, 2006, Human molecular genetics.

Interstitial 10q21.1q23.31 Duplication due to Meiotic Recombination of a Paternal Balanced Complex Rearrangement: Cytogenetic and Molecular Characterization

M. Digilio, B. Dallapiccola, A. Novelli, 2017, Cytogenetic and Genome Research.

Array-CGH characterization and genotype-phenotype analysis in a patient with a ring chromosome 6

M. Digilio, C. Cini, C. Surace, 2013, BMC Medical Genomics.

A Ph-negative chronic myeloid leukemia with a complex BCR/ABL rearrangement and a t(6;9)(p21;q34.1).

M. Rocchi, O. Markovic, C. Surace, 2006, Cancer genetics and cytogenetics.

Molecular cytogenetic characterization of a complex rearrangement involving chromosomes 9 and 22 in a case of Ph-negative chronic myeloid leukemia.

M. Rocchi, C. Storlazzi, C. Surace, 2002, Cancer genetics and cytogenetics.

Fluorescence in situ hybridization improves cytogenetic results in the analysis of hepatoblastoma.

M. Rocchi, G. Basso, G. Perilongo, 2002, Cancer genetics and cytogenetics.

Trans-heterozygosity for mutations enhances the risk of recurrent/chronic pancreatitis in patients with Cystic Fibrosis

Letizia Da Sacco, V. Raia, M. Lucarelli, 2018, Molecular Medicine.

Advantages of a next generation sequencing targeted approach for the molecular diagnosis of retinoblastoma

R. Cozza, M. D. De Ioris, F. Locatelli, 2015, BMC Cancer.

Advantages of a next generation sequencing targeted approach for the molecular diagnosis of retinoblastoma

R. Cozza, M. D. De Ioris, F. Locatelli, 2015, BMC Cancer.

Short communication Molecular cytogenetic characterization of a complex rearrangement involving chromosomes 9 and 22 in a case of Ph-negative chronic myeloid leukemia

M. Rocchi, C. Storlazzi, C. Surace, 2002 .

Complex chromosome rearrangements related 15q14 microdeletion plays a relevant role in phenotype expression and delineates a novel recurrent syndrome

M. Digilio, R. Capolino, C. Surace, 2011, Orphanet journal of rare diseases.

Gene amplification as double minutes or homogeneously staining regions in solid tumors: origin and structure.

Domenico Trombetta, Reinhard Ullmann, Peter F Ambros, 2010, Genome research.

A 76-kb duplicon maps close to the BCR gene on chromosome 22 and the ABL gene on chromosome 9: Possible involvement in the genesis of the Philadelphia chromosome translocation

N. Archidiacono, M. Rocchi, G. Saglio, 2002, Proceedings of the National Academy of Sciences of the United States of America.

Medulloblastoma: Role of MYCN Gene Amplification Using Fluorescence In Situ Hybridization and Real Time Quantitative PCR Methods

C. Surace, 2012 .

Episomal amplification of MYCN in a case of medulloblastoma

M. Rocchi, F. Burel-Vandenbos, F. Pedeutour, 2008, Virchows Archiv.

Erratum to: Acute promyelocytic leukemia with additional chromosome abnormalities in a renal transplant case

M. Rocchi, A. Cuneo, C. Storlazzi, 2001, Annals of Hematology.

Acute promyelocytic leukemia with additional chromosome abnormalities in a renal transplant case

M. Rocchi, A. Cuneo, C. Storlazzi, 2001, Annals of Hematology.

Phenotype characterisation of TBX4 mutation and deletion carriers with neonatal and paediatric pulmonary hypertension

R. Boldrini, M. Griese, E. Austin, 2019, European Respiratory Journal.

Characterization of a novel isolated deletion of the exon 3 within the CFTR gene: Relevance for phenotypic expression and genetic counseling.

F. Torricelli, V. Lucidi, C. Surace, 2011, Clinical biochemistry.

Telomere shortening and telomere position effect in mild ring 17 syndrome

Letizia Da Sacco, A. Masotti, M. Digilio, 2014, Epigenetics & Chromatin.

Two novel cases of trilateral retinoblastoma: genetics and review of the literature.

R. Cozza, F. Locatelli, C. Surace, 2013, Cancer genetics.

Congenital heart defects in recurrent reciprocal 1q21.1 deletion and duplication syndromes: rare association with pulmonary valve stenosis.

M. Digilio, B. Dallapiccola, L. Bernardini, 2013, European journal of medical genetics.

Abstracts from the 23rd Italian congress of Cystic Fibrosis and the 13th National congress of Cystic Fibrosis Italian Society

N. Segata, F. Armanini, P. Palange, 2018, Italian Journal of Pediatrics.

Telomere shortening and telomere position effect in mild ring 17 syndrome

Andrea Masotti, Cecilia Surace, Maria Cristina Digilio, 2014, Epigenetics & Chromatin.

Lyonization Effects of the t(X;16) Translocation on the Phenotypic Expression in a Rare Female With Menkes Disease

E. Bertini, C. Dionisi-Vici, S. Boenzi, 2009, Pediatric Research.

Novel Compound Heterozygous Mutations in IL-7 Receptor α Gene in a 15-Month-Old Girl Presenting With Thrombocytopenia, Normal T Cell Count and Maternal Engraftment

P. Palma, C. Cancrini, M. Chiriacò, 2019, Front. Immunol..

Molecular cytogenetic characterization of a novel additional chromosomal aberration in blast crisis of a Ph-positive chronic myeloid leukemia.

M. Rocchi, C. Storlazzi, C. Surace, 2002, Cancer genetics and cytogenetics.

Trans-heterozygosity for mutations enhances the risk of recurrent/chronic pancreatitis in patients with Cystic Fibrosis

Letizia Da Sacco, V. Raia, M. Lucarelli, 2018, Molecular medicine.

Extensive Molecular Analysis Suggested the Strong Genetic Heterogeneity of Idiopathic Chronic Pancreatitis

G. Castaldo, V. Lucidi, C. Surace, 2016, Molecular medicine.

Novel Dominant Mutation in BIN1 Gene Causing Mild Centronuclear Myopathy Revealed by Myalgias and CK Elevation.

E. Bertini, N. Romero, J. Böhm, 2016, Journal of neuromuscular diseases.

Relationship between CFTR and CTRC variants and the clinical phenotype in late-onset cystic fibrosis disease with chronic pancreatitis.

V. Lucidi, C. Surace, A. Angioni, 2015, The Journal of molecular diagnostics : JMD.