S. Cavani

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Guidelines and Quality Assurance for Acquired Cytogenetics A common European framework for quality assessment for banded chromosome studies and molecular cytogenetic investigations of acquired abnormalities

R. Siebert, F. Solé, C. Haferlach, 2013 .

Plasma levels of amyloid beta 40 and 42 are independent from ApoE genotype and mental retardation in Down syndrome.

M. Tabaton, L. Marinelli, H. Mori, 2000, American journal of medical genetics.

Ten Years of HPV Vaccines

A. Geroldi, P. Scollo, S. Cavani, 2017 .

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

F. Zara, S. Cavani, F. Bricarelli, 2001, Journal of medical genetics.

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

S. Cavani, C. Danesino, A. Guala, 2019, Pediatric reports.

Lack of evidence of a genetic origin in the impaired spermatogenesis of a patient cohort with low-grade varicocele

S. Cavani, M. Giusti, L. Perroni, 2001, Journal of endocrinological investigation.

10qter deletion: A new case

S. Cavani, M. Piccione, V. Antona, 2008, American journal of medical genetics. Part A.

ECA Permanent working group for cytogenetics and society: Cytogenetic guidelines and quality assurance. A common framework for quality assessment for constitutional and acquired cytogenetic investigations

R. Hastings, S. Cavani, F. Bricarelli, 2006 .

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

D. Nižetić, G. Basso, C. Mulligan, 2003, The Lancet.

Pure segmental trisomy 1q42‐qter in a boy with a severe phenotype

S. Cavani, A. Forabosco, A. Percesepe, 2007, American journal of medical genetics. Part A.

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

G. Scarano, G. Neri, C. Pantaleoni, 2005, American journal of medical genetics. Part A.

Cytogenetic Guidelines and Quality Assurance: a common European framework for quality assessment for constitutional and acquired cytogenetic investigations

P. Patsalis, R. Hastings, S. Cavani, 2007, European Journal of Human Genetics.

Cytogenetic and molecular evaluation of 241 small supernumerary marker chromosomes: Cooperative study of 19 Italian laboratories

F. Torricelli, P. Simi, E. Sala, 2005, Genetics in Medicine.

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

M. Fichera, D. Luciano, S. Cavani, 2011, Journal Genetika.

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

S. Perrotta, C. Mecucci, A. Savoia, 2014, Haematologica.

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

F. Zara, S. Cavani, F. Bricarelli, 2001, Journal of medical genetics.

The first case of myoclonic epilepsy in a child with a de novo 22q11.2 microduplication

S. Cavani, M. Piccione, G. Corsello, 2011, American journal of medical genetics. Part A.

The first three mosaic cri du chat syndrome patients with two rearranged cell lines

F. Zara, S. Cavani, F. Bricarelli, 2000, Journal of medical genetics.

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

L. Gianaroli, N. Ragni, D. Fortini, 2000, Human reproduction.

18q‐ syndrome and ectodermal dysplasia syndrome: Description of a child and his family

R. Zannolli, M. Mazzei, M. Fimiani, 2003, American journal of medical genetics. Part A.

An improved method for the detection of Down's syndrome aneuploidy in uncultured amniocytes

H. Lehrach, D. Nižetić, S. Cavani, 1996, Clinical genetics.

Cryptic 1p36.3/6q25.2 translocation in three generations ascertained through a foetus with IUGR and cerebral malformations

S. Cavani, F. Faravelli, G. Piombo, 2003, Prenatal diagnosis.

A 12.4 Mb direct duplication in 19q12-q13 in a boy with cardiac and CNS malformations and developmental delay

S. Cavani, A. Percesepe, L. Lugli, 2011, Journal of Applied Genetics.

Mild Generalized Epilepsy and Developmental Disorder Associated with Large Inv Dup(15)

R. Guerrini, M. Elia, S. Cavani, 2002, Epilepsia.

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

M. Fichera, S. Gimelli, P. Striano, 2012, Archives of neurology.

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

O. Zuffardi, S. Cavani, M. Piccione, 2012, European journal of medical genetics.

First-trimester euploid miscarriages analysed by array-CGH

S. Cavani, C. Baldo, D. Coviello, 2013, Journal of Applied Genetics.

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

S. Cavani, M. Piccione, M. Malacarne, 2017, Italian Journal of Pediatrics.

Array‐CGH and clinical characterization in a patient with subtelomeric 6p deletion without ocular dysgenesis

S. Cavani, M. Piccione, G. Corsello, 2012, American journal of medical genetics. Part A.

Clinical phenotype and molecular characterization of 6q terminal deletion syndrome: Five new cases

P. Striano, A. Coppola, F. Zara, 2006, American journal of medical genetics. Part A.

Nonhomologous Robertsonian translocations (NHRTs) and uniparental disomy (UPD) risk: an Italian multicentric prenatal survey

E. Calzolari, M. Genuardi, A. Ferlini, 2004, Prenatal diagnosis.

Prenatal diagnosis of Gollop‐Wolfgang Complex

S. Cavani, F. Faravelli, F. Forzano, 2009, Prenatal diagnosis.

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

D. Nižetić, G. Basso, C. Mulligan, 2004, British journal of haematology.

A common European framework for quality assessment for constitutional, acquired and molecular cytogenetic investigations. E.C.A. Permanent Working Group for Cytogenetics and Society

R. Hastings, R. Howell, S. Cavani, 2012 .

Galliera Genetic Bank: A DNA and Cell Line Biobank from Patients Affected by Genetic Diseases

S. Cavani, C. Baldo, D. Coviello, 2016 .

Novel CNS syndrome and ectodermal dysplasia

R. Zannolli, R. Perotti, A. Malandrini, 2003, American Journal of Medical Genetics. Part A.

14q13.1‐21.1 deletion encompassing the HPE8 locus in an adolescent with intellectual disability and bilateral microphthalmia, but without holoprosencephaly

S. Cavani, M. Piccione, G. Corsello, 2012, American journal of medical genetics. Part A.

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

S. Cavani, M. Piccione, V. Antona, 2012, Journal of Applied Genetics.

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

P. Gasparini, L. Bernardini, A. Novelli, 2022, Prenatal diagnosis.

FRAXE mutation in a mentally retarded subject and in his phenotypically normal twin brother

S. Cavani, F. Faravelli, F. Bricarelli, 2000, European Journal of Human Genetics.

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

S. Perrotta, C. Mecucci, A. Savoia, 2014, Haematologica.

Microdeletion 2q23.3q24.1: Exploring genotype‐phenotype correlations

S. Cavani, D. Milani, C. Sabatini, 2015, Congenital anomalies.

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

S. Cavani, M. Piccione, V. Antona, 2012, Journal of Applied Genetics.

Array‐CGH defined chromosome 1p duplication in a patient with autism spectrum disorder, mild mental deficiency, and minor dysmorphic features

S. Cavani, M. Piccione, V. Antona, 2010, American journal of medical genetics. Part A.

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

C. Bolognesi, P. Degan, S. Ravera, 2018, Journal of cellular physiology.

Cytogenetic and molecular study of 32 Down syndrome families: potential leukaemia predisposing role of the most proximal segment of chromosome 21q

D. Nižetić, K. Schmiegelow, S. Cavani, 1998, British journal of haematology.

FMR1, FMR2, and SLITRK2 deletion inside a paracentric inversion involving bands Xq27.3–q28 in a male and his mother

A. Mencarelli, S. Cavani, P. Prontera, 2011, American journal of medical genetics. Part A.

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

S. Cavani, P. D’ambrosio, R. Petillo, 2017, European Journal of Medical Genetics.

First-trimester euploid miscarriages analysed by array-CGH

S. Cavani, M. Traversa, G. Piombo, 2013, Journal of Applied Genetics.

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

S. Perrotta, C. Mecucci, A. Savoia, 2014, Haematologica.