Simona Cavani

Genoa, Italy

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 10 publications

Positive predictive values and outcomes for uninformative cell-free DNA tests: An Italian multicentric Cytogenetic and cytogenomic Audit of diagnOstic testing (ICARO study).

Positive predictive values and outcomes for uninformative cell-free DNA tests: An Italian multicentric Cytogenetic and cytogenomic Audit of diagnOstic testing (ICARO study).

Journal: Prenatal diagnosis

Published: August 05, 2022

Children and adults affected by Cri du Chat syndrome: Care's recommendations.

Children and adults affected by Cri du Chat syndrome: Care's recommendations.

Journal: Pediatric reports

Published: August 20, 2018

Expanding the phenotype of reciprocal 1q21.1 deletions and duplications: a case series.

Expanding the phenotype of reciprocal 1q21.1 deletions and duplications: a case series.

Journal: Italian journal of pediatrics

Published: April 22, 2017

Concentration-dependent metabolic effects of metformin in healthy and Fanconi anemia lymphoblast cells.

Concentration-dependent metabolic effects of metformin in healthy and Fanconi anemia lymphoblast cells.

Journal: Journal of cellular physiology

Published: April 10, 2017

Brachydactyly type E in an Italian family with 6p25 trisomy.

Brachydactyly type E in an Italian family with 6p25 trisomy.

Journal: European journal of medical genetics

Published: August 18, 2016

Microdeletion 2q23.3q24.1: exploring genotype-phenotype correlations.

Microdeletion 2q23.3q24.1: exploring genotype-phenotype correlations.

Journal: Congenital anomalies

Published: April 18, 2014

Molecular analysis of Fanconi anemia: the experience of the Bone Marrow Failure Study Group of the Italian Association of Pediatric Onco-Hematology.

Molecular analysis of Fanconi anemia: the experience of the Bone Marrow Failure Study Group of the Italian Association of Pediatric Onco-Hematology.

Journal: Haematologica

Published: March 04, 2014

First-trimester euploid miscarriages analysed by array-CGH.

First-trimester euploid miscarriages analysed by array-CGH.

Journal: Journal of applied genetics

Published: February 21, 2013

Characterization of a complex rearrangement involving chromosomes 1, 4 and 8 by FISH and array-CGH.

Characterization of a complex rearrangement involving chromosomes 1, 4 and 8 by FISH and array-CGH.

Journal: Journal of applied genetics

Published: February 17, 2012

Molecular and clinical characterization of a small duplication Xp in a human female with psychiatric disorders.

Molecular and clinical characterization of a small duplication Xp in a human female with psychiatric disorders.

Journal: Journal of genetics

Published: January 10, 2012

Showing 1-10 of 10

Last Updated: 09/26/2026