M. Pierluigi

发表

Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations

C. Romano, R. Borgatti, R. Tenconi, 2001, Journal of medical genetics.

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 refinement of the critical region for the 2q31.2q32.3 deletion syndrome indicates candidate genes for mental retardation and speech impairment

F. Faravelli, F. Forzano, L. Perroni, 2010, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Effect of x-rays on chromosome 21 nondisjunction.

R. Sansone, G. Forni, P. Strigini, 2005, American journal of medical genetics. Supplement.

Radiation and Down's syndrome

R. Sansone, P. Strigini, M. Pierluigi, 1990, Nature.

Cryptic chromosome deletions involving SCN1A in severe myoclonic epilepsy of infancy

P. Striano, F. Zara, R. Biancheri, 2006, Neurology.

The natural history of Cri du Chat Syndrome. A report from the Italian Register.

F. Bricarelli, M. Godi, A. Guala, 2006, European journal of medical genetics.

10qter deletion: A new case

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

Phenotype resembling Donnai–Barrow syndrome in a patient with 9qter;16qter unbalanced translocation

G. Ferrero, M. Silengo, F. Faravelli, 2006, American journal of medical genetics. Part A.

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.

The Italian External Quality Assessment Scheme in Classical Cytogenetics: Four Years of Activity

E. Calzolari, D. Taruscio, C. Mecucci, 2008, Public Health Genomics.

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 of Genetics.

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.

Global developmental delay, osteopenia and ectodermal defect: A new syndrome

J. A. Swift, R. Zannolli, M. Fimiani, 2006, Brain and Development.

High efficiency in the attribution of parental origin of non-disjunction in trisomy 21 by both cytogenetic and molecular polymorphisms

F. Bricarelli, N. Sacchi, L. Perroni, 1988, Human Genetics.

Familial Robertsonian 13;14 Translocation With Mental Retardation and Epilepsy

R. Zannolli, A. Fois, S. Buoni, 2006, Journal of child neurology.

6q Terminal Deletion Syndrome Associated with a Distinctive EEG and Clinical Pattern: A Report of Five Cases

M. Fichera, C. Romano, P. Striano, 2006, Epilepsia.

FISH characterization of two supernumerary r(1) associated with distinct clinical phenotypes.

D. Giardino, L. Larizza, G. Gottardi, 1999, American journal of medical genetics.

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.

Neocentromeres in 15q24-26 map to duplicons which flanked an ancestral centromere in 15q25.

Jonathan M. Mudge, Elisabeth Blennow, Roberto Giorda, 2003, Genome research.

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.

Double partial trisomy 9q34.1-->qter and 21pter-->q22.11: FISH and clinical findings.

D. Mazzone, T. Mattina, M. Pierluigi, 1997, Journal of medical genetics.

Premutation for the Martin-Bell syndrome analyzed in a large pedigree segregating also for G6PD-deficiency. I: A working hypothesis on the nature of the FRAX-mutations.

M. Rocchi, M. Pierluigi, M. Grasso, 1991, American journal of medical genetics.

De novo balanced chromosome rearrangements in prenatal diagnosis

G. Voglino, F. Torricelli, E. Sala, 2009, Prenatal diagnosis.

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.

Isochromosome not translocation in trisomy 21q21q

F. Bricarelli, L. Perroni, M. Pierluigi, 1989, Human 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.

Array CGH defined interstitial deletion on chromosome 14: a new case

M. Piccione, V. Antona, G. Corsello, 2010, European Journal of Pediatrics.

Origin of extra chromosome 21 in 343 families: cytogenetic and molecular approaches.

L. Perroni, P. Strigini, M. Pierluigi, 2005, American journal of medical genetics. Supplement.

Subtelomeric FISH analysis in 76 patients with syndromic developmental delay/intellectual disability

O. Zuffardi, G. Ferrero, M. Silengo, 2009, Italian journal of pediatrics.

4p16.1-p15.31 duplication and 4p terminal deletion in a 3-years old Chinese girl: Array-CGH, genotype-phenotype and neurological characterization.

M. Piccione, G. Corsello, M. Malacarne, 2015, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Corpus callosum agenesis, multiple cysts, skin defects, and subtle ocular abnormalities with a de novo mutation [45,XX,der(5), t(5;;14) (pter;q11.2)].

R. Zannolli, R. Perotti, G. Morgese, 2001, American journal of medical genetics.

Identification and purification of overlapping cosmid clones of the region Xq24-qter of human X chromosome using HPLC.

M. Pierluigi, S. Lucia, B. Ida, 1992, Genomics.

Crossing over and chromosome 21 nondisjunction: a study of 60 families.

L. Perroni, P. Strigini, M. Pierluigi, 2005, American journal of medical genetics. Supplement.

Novel CNS syndrome and ectodermal dysplasia

R. Zannolli, R. Perotti, A. Malandrini, 2003, American journal of medical genetics. Part A.

A case of autism with an interstitial 1q deletion (1q23.3‐24.2) and a de novo translocation of chromosomes 1q and 5q

G. Scarano, D. Luquetti, O. Zuffardi, 2007, American journal of medical genetics. Part A.

Parental age and the origin of trisomy 21

F. Bricarelli, D. Coviello, P. Strigini, 1989, Human Genetics.

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.

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

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

Psychomotor development in Cri du Chat Syndrome

A. Guala, G. Pastore, M. Pierluigi, 2000, Clinical genetics.

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.

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.

Leri-Weill’s syndrome: clinical, radiological and genetic investigations in five patients

F. Piccione, M. Giuffré, M. Pierluigi, 2016 .

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.

The refinement of the critical region for the 2q31.2q32.3 deletion syndrome indicates candidate genes for mental retardation and speech impairment

F. Faravelli, F. Forzano, L. Perroni, 2010, American Journal of Medical Genetics Part B: Neuropsychiatric Genetics.