List of works - Cecilia Surace

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

scientific article

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

scientific article published in September 2004

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

scientific article published on 4 November 2015

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

scientific article

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

scientific article

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

scientific article published on 25 December 2012

Extensive molecular analysis suggested the strong genetic heterogeneity of idiopathic chronic pancreatitis.

scientific article

High-resolution array CGH profiling identifies Na/K transporting ATPase interacting 2 (NKAIN2) as a predisposing candidate gene in neuroblastoma

scientific article

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

scientific article published on 6 May 2017

Lyonization effects of the t(X;16) translocation on the phenotypic expression in a rare female with Menkes disease.

scientific article published in March 2009

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

scientific article published on September 2009

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

scientific article published on 26 August 2005

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

scientific article published on 30 October 2019

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

scientific article published on March 2016

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

scientific article published on 22 August 2019

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

scientific article published on 28 January 2015

Telomere shortening and telomere position effect in mild ring 17 syndrome

scientific article published on 7 January 2014

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

scientific article published on 27 July 2018

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

scientific article

List of works by Cecilia Surace

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

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

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

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

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

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

Extensive molecular analysis suggested the strong genetic heterogeneity of idiopathic chronic pancreatitis.

High-resolution array CGH profiling identifies Na/K transporting ATPase interacting 2 (NKAIN2) as a predisposing candidate gene in neuroblastoma

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

Lyonization effects of the t(X;16) translocation on the phenotypic expression in a rare female with Menkes disease.

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

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

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

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

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

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

Telomere shortening and telomere position effect in mild ring 17 syndrome

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

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