Clinical significance of rare copy number variations in epilepsy: a case-control survey using microarray-based comparative genomic hybridization

…, R Galasso, G Gobbi, C Molinatto, S Cavani… - Archives of …, 2012 - jamanetwork.com
Objective To perform an extensive search for genomic rearrangements by microarray-based
comparative genomic hybridization in patients with epilepsy. Design Prospective cohort …

Clinical and molecular characterisation of 80 patients with 5p deletion: genotype-phenotype correlation

…, A Calì, G Coucourde, G Pastore, S Cavani… - Journal of Medical …, 2001 - jmg.bmj.com
The majority of deletions of the short arm of chromosome 5 are associated with cri du chat
syndrome (CdCS) and patients show phenotypic and cytogenetic variability. To perform a …

Acquired mutations in GATA1 in neonates with Down's syndrome with transient myeloid disorder

…, I Burtscher, C Mulligan, A Mensah, S Cavani… - The Lancet, 2003 - thelancet.com
Transient myeloid disorder is a unique self-regressing neoplasia specific to Down's
syndrome. The transcription factor GATA1 is needed for normal growth and maturation of …

[HTML][HTML] Exact methods for the traveling salesman problem with multiple drones

S Cavani, M Iori, R Roberti - Transportation Research Part C: Emerging …, 2021 - Elsevier
Drone delivery is drawing increasing attention in last-mile delivery. Effective solution
methods to solve decision-making problems arising in drone delivery allow to run and …

Frequency of hyper-, hypohaploidy and diploidy in ejaculate, epididymal and testicular germ cells of infertile patients

…, D Fortini, N Conte, C Magli, S Cavani… - Human …, 2000 - academic.oup.com
The hypothesis that sperm aneuploidy and diploidy increase as a function of
spermatogenesis impairment was addressed. Ejaculated semen samples from a series of …

Interstitial deletion of chromosome 2p15-16.1: report of two patients and critical review of current genotype–phenotype correlation

M Piccione, E Piro, F Serraino, S Cavani… - European journal of …, 2012 - Elsevier
We report two individuals with developmental delay and dysmorphic features, in whom array-
based comparative genomic hybridization (array CGH) led to the identification of a 2p15p16 …

First-trimester euploid miscarriages analysed by array-CGH

CD Viaggi, S Cavani, M Malacarne, F Floriddia… - Journal of applied …, 2013 - Springer
Abstract It is estimated that 10–15% of all clinically recognised pregnancies results in a
miscarriage, most of which occur during the first trimester. Large-scale chromosomal …

Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth

…, F Forzano, D Milani, S Cavani… - American Journal of …, 2005 - Wiley Online Library
Sotos syndrome is characterized by pre‐and post‐natal overgrowth, typical craniofacial
features, advanced bone age, and developmental delay. Some degree of phenotypic …

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

…, A Spano, C Danesino, M Malacarne, S Cavani… - Pediatric Reports, 2019 - mdpi.com
Our objective is to collect data and information for a better care and follow up in Cri du Chat
patients. We conducted a literature review in August 2017 and then discuss the outcomes …

Microarray transcript profiling distinguishes the transient from the acute type of megakaryoblastic leukaemia (M7) in Down's syndrome, revealing PRAME as a specific …

…, G Denyer, A Mensah, S Cavani… - British journal of …, 2004 - Wiley Online Library
Transient myeloproliferative disorder (TMD) is a unique, spontaneously regressing
neoplasia specific to Down's syndrome (DS), affecting up to 10% of DS neonates. In 20 …