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 …
based comparative genomic hybridization (array CGH) led to the identification of a 2p15p16 …
The natural history of Cri du Chat Syndrome. A report from the Italian Register
PC Mainardi, G Pastore, C Castronovo, M Godi… - European Journal of …, 2006 - Elsevier
The aim of this report is to provide an update on the natural history of the Cri du Chat
Syndrome by means of the Italian Register (IR). Two hundred twenty patients were …
Syndrome by means of the Italian Register (IR). Two hundred twenty patients were …
Neocentromeres in 15q24-26 map to duplicons which flanked an ancestral centromere in 15q25
The existence of latent centromeres has been proposed as a possible explanation for the
ectopic emergence of neocentromeres in humans. This hypothesis predicts an association …
ectopic emergence of neocentromeres in humans. This hypothesis predicts an association …
De novo balanced chromosome rearrangements in prenatal diagnosis
D Giardino, C Corti, L Ballarati, D Colombo… - Prenatal …, 2009 - Wiley Online Library
Objective We surveyed the datasheets of 29 laboratories concerning prenatal diagnosis of
de novo apparently balanced chromosome rearrangements to assess the involvement of …
de novo apparently balanced chromosome rearrangements to assess the involvement of …
Clinical phenotype and molecular characterization of 6q terminal deletion syndrome: five new cases
P Striano, M Malacarne, S Cavani… - American journal of …, 2006 - Wiley Online Library
Mental retardation, facial dysmorphisms, seizures, and brain abnormalities are features of
6q terminal deletions. We have ascertained five patients with 6q subtelomere deletions (four …
6q terminal deletions. We have ascertained five patients with 6q subtelomere deletions (four …
6q terminal deletion syndrome associated with a distinctive EEG and clinical pattern: a report of five cases
Purpose: Mental retardation, facial dysmorphisms, and neurologic and brain abnormalities
are features of 6q terminal deletions. Epilepsy is frequently associated with this chromosome …
are features of 6q terminal deletions. Epilepsy is frequently associated with this chromosome …
[HTML][HTML] Expanding the phenotype of reciprocal 1q21. 1 deletions and duplications: a case series
M Busč, HC Cuttaia, D Palazzo, MV Mazara… - Italian journal of …, 2017 - Springer
Abstract Background Recurrent reciprocal 1q21. 1 deletions and duplications have been
associated with variable phenotypes. Phenotypic features described in association with …
associated with variable phenotypes. Phenotypic features described in association with …
[HTML][HTML] Role of body composition in the prediction of skeletal fragility induced by hormone deprivation therapies in cancer patients
A Dalla Volta, I Caramella, P Di Mauro… - Current Oncology …, 2023 - Springer
Abstract Purpose of Review This review paper is intended to show that changes in body
composition are key in the pathogenesis of bone fragility amongst patients with breast and …
composition are key in the pathogenesis of bone fragility amongst patients with breast and …
[HTML][HTML] Immune checkpoint inhibitors in malignant pleural mesothelioma: a systematic review and meta-analysis
Simple Summary Many clinical trials have investigated the role of Immune Checkpoint
Inhibitors (ICIs) in pleural mesothelioma (PM), with contrasting results. We performed a …
Inhibitors (ICIs) in pleural mesothelioma (PM), with contrasting results. We performed a …
[HTML][HTML] Cytogenetic and molecular evaluation of 241 small supernumerary marker chromosomes: cooperative study of 19 Italian laboratories
L Dalprą, D Giardino, P Finelli, C Corti, C Valtorta… - Genetics in …, 2005 - nature.com
Purpose: We evaluated the experiences of 19 Italian laboratories concerning 241 small
supernumerary marker chromosomes (sSMCs) with the aim of answering questions arising …
supernumerary marker chromosomes (sSMCs) with the aim of answering questions arising …