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Mauro Pierluigi

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Chiara Donatella Viaggi; V Antona; Simona Cavani; Giovanni Corsello; Massimo Mogni; Maria Piccione; Mauro Pierluigi; Ettore Piro; Michela Malacarne
Characterization of a complex rearrangement involving chromosomes 1, 4 and 8 by FISH and array-CGH.
Maria Piccione; Mauro Pierluigi; Gregorio Serra; Chiara Viaggi; Simona Cavani; Valeria Consiglio; Antonella Di Fiore; Marina Grasso; Michela Malacarne; Giovanni Corsello
14q13.1-21.1 deletion encompassing the HPE8 locus in an adolescent with intellectual disability and bilateral microphthalmia, but without holoprosencephaly.
Maria Piccione; Mauro Pierluigi; Ettore Piro; Francesca Serraino; Marianna Vitaloni; Orsetta Zuffardi; Simona Cavani; Roberto Ciccone; Michela Malacarne; Giovanni Corsello
Interstitial deletion of chromosome 2p15-16.1: report of two patients and critical review of current genotype-phenotype correlation.

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2012: Chiara Donatella Viaggi; V Antona; Simona Cavani; Giovanni Corsello; Massimo Mogni; Maria Piccione; Mauro Pierluigi; Ettore Piro; Michela Malacarne
Characterization of a complex rearrangement involving chromosomes 1, 4 and 8 by FISH and array-CGH.
Journal of applied genetics 2012;53(3):285-8.
2012: Maria Piccione; Mauro Pierluigi; Gregorio Serra; Chiara Viaggi; Simona Cavani; Valeria Consiglio; Antonella Di Fiore; Marina Grasso; Michela Malacarne; Giovanni Corsello
14q13.1-21.1 deletion encompassing the HPE8 locus in an adolescent with intellectual disability and bilateral microphthalmia, but without holoprosencephaly.
American journal of medical genetics. Part A 2012;158A(6):1427-33.
2012: Maria Piccione; Mauro Pierluigi; Ettore Piro; Francesca Serraino; Marianna Vitaloni; Orsetta Zuffardi; Simona Cavani; Roberto Ciccone; Michela Malacarne; Giovanni Corsello
Interstitial deletion of chromosome 2p15-16.1: report of two patients and critical review of current genotype-phenotype correlation.
European journal of medical genetics 2012;55(4):238-44.
2012: Maria Piccione; Mauro Pierluigi; E Salzano; C D Viaggi; R Antona; Simona Cavani; Michela Malacarne; R Morreale Bubella; Giovanni Corsello
Array-CGH and clinical characterization in a patient with subtelomeric 6p deletion without ocular dysgenesis.
American journal of medical genetics. Part A 2012;158A(1):150-4.
2011: Maria Piccione; Mauro Pierluigi; Davide Vecchio; Simona Cavani; Michela Malacarne; Giovanni Corsello
The first case of myoclonic epilepsy in a child with a de novo 22q11.2 microduplication.
American journal of medical genetics. Part A 2011;155A(12):3054-9.
2011: Licia Lugli; Michela Malacarne; Simona Cavani; Fabrizio Ferrari; Mauro Pierluigi; Antonio Percesepe
A 12.4 Mb direct duplication in 19q12-q13 in a boy with cardiac and CNS malformations and developmental delay.
Journal of applied genetics 2011;52(3):335-9.
2011: Simona Cavani; Paolo Prontera; Marina Grasso; Carmela Ardisia; Michela Malacarne; Cristina Gradassi; Massimiliano Cecconi; Amedea Mencarelli; Emilio Donti; Mauro Pierluigi
FMR1, FMR2, and SLITRK2 deletion inside a paracentric inversion involving bands Xq27.3-q28 in a male and his mother.
American journal of medical genetics. Part A 2011;155A(1):221-4.
2010: Alessandro Cocchella; Michela Malacarne; Francesca Forzano; Carmela Marciano; Mauro Pierluigi; Lucia Perroni; Francesca Faravelli; Emilio Di Maria
The refinement of the critical region for the 2q31.2q32.3 deletion syndrome indicates candidate genes for mental retardation and speech impairment.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2010;153B(7):1342-6.
2010: Maria Piccione; V Antona; Valeria Scavone; Michela Malacarne; Mauro Pierluigi; Marina Grasso; Giovanni Corsello
Array CGH defined interstitial deletion on chromosome 14: a new case.
European journal of pediatrics 2010;169(7):845-51.
2010: Maria Piccione; V Antona; Roberta Antona; Giovanna Gambino; Mauro Pierluigi; Michela Malacarne; Simona Cavani; Giovanni Corsello
Array-CGH defined chromosome 1p duplication in a patient with autism spectrum disorder, mild mental deficiency, and minor dysmorphic features.
American journal of medical genetics. Part A 2010;152A(2):486-9.
2009: Elga F Belligni; Elisa Biamino; Cristina Molinatto; Jole Messa; Mauro Pierluigi; Francesca Faravelli; Orsetta Zuffardi; Giovanni B Ferrero; Margherita Cirillo Silengo
Subtelomeric FISH analysis in 76 patients with syndromic developmental delay/intellectual disability.
Italian journal of pediatrics 2009;35(1):9.
2008: Maria Piccione; V Antona; Ettore Piro; Simona Cavani; Michela Malacarne; Mauro Pierluigi; Giovanni Corsello
10qter deletion: a new case.
American journal of medical genetics. Part A 2008;146A(18):2435-8.
2007: Matteo Della Monica; Fortunato Lonardo; Francesca Faravelli; Mauro Pierluigi; Daniela Varela Luquetti; Manuela De Gregori; Orsetta Zuffardi; Gioacchino Scarano
A case of autism with an interstitial 1q deletion (1q23.3-24.2) and a de novo translocation of chromosomes 1q and 5q.
American journal of medical genetics. Part A 2007;143A(22):2733-7.
2007: Antonio Percesepe; Licia Lugli; Mauro Pierluigi; Simona Cavani; Michela Malacarne; Maria Federica Roversi; Fabrizio Ferrari; Antonino Forabosco
Pure segmental trisomy 1q42-qter in a boy with a severe phenotype.
American journal of medical genetics. Part A 2007;143A(19):2339-42.
2006: Francesca Madia; Pasquale Striano; Elena Gennaro; Michela Malacarne; Roberta Paravidino; Roberta Biancheri; M Budetta; M R Cilio; Roberto Gaggero; Mauro Pierluigi; Carlo Minetti; Federico Zara
Cryptic chromosome deletions involving SCN1A in severe myoclonic epilepsy of infancy.
Neurology 2006;67(7):1230-5.
2006: Pasquale Striano; Michela Malacarne; Simona Cavani; Mauro Pierluigi; Rosanna Rinaldi; Maria Luigia Cavaliere; Maria Michela Rinaldi; Carmelilia De Bernardo; Antonino Coppola; Maria Pintaudi; Roberto Gaggero; Paola Grammatico; Salvatore Striano; Bruno Dallapiccola; Federico Zara; Francesca Faravelli
Clinical phenotype and molecular characterization of 6q terminal deletion syndrome: Five new cases.
American journal of medical genetics. Part A 2006;140(18):1944-9.
2006: Paola Cerruti Mainardi; Guido Pastore; Chiara Castronovo; Michela Godi; Andrea Guala; Stefania Tamiazzo; Sandro Provera; Mauro Pierluigi; Franca Dagna Bricarelli
The natural history of Cri du Chat Syndrome. A report from the Italian Register.
European journal of medical genetics 2006;49(5):363-83.
2006: Sabrina Buoni; Raffaella Zannolli; Francesca Macucci; Lucia Pucci; Massimo Mogni; Mauro Pierluigi; Alberto Fois
Familial robertsonian 13;14 translocation with mental retardation and epilepsy.
Journal of child neurology 2006;21(6):531-3.
2006: Maurizio Elia; Pasquale Striano; Marco Fichera; Roberto Gaggero; Lucia Castiglia; Ornella Galesi; Michela Malacarne; Mauro Pierluigi; Carmelo Amato; Sebastiano A Musumeci; Corrado Romano; Silvia Majore; Paola Grammatico; Federico Zara; Salvatore Striano; Francesca Faravelli
6q terminal deletion syndrome associated with a distinctive EEG and clinical pattern: a report of five cases.
Epilepsia 2006;47(5):830-8.
2006: Giovanni Battista Ferrero; Elga Belligni; Lorena Sorasio; Angelo Giovanni Delmonaco; Roberto Oggero; Francesca Faravelli; Mauro Pierluigi; Margherita Silengo
Phenotype resembling Donnai-Barrow syndrome in a patient with 9qter;16qter unbalanced translocation.
American journal of medical genetics. Part A 2006;140(8):892-4.
2006: Raffaella Zannolli; Sabrina Buoni; Francesca Macucci; Maria M de Santi; Flavia Miracco; Mauro Pierluigi; Massimo Mogni; Paola Piomboni; Maria R Massafra; Paolo Galluzzi; Walter Livi; Aldo Cuccia; Maria Margollicci; Lucia Pucci; Palmino Sacco; Massimo Molinelli; Alberto Burlina; James A Swift; Michele Fimiani; Michele Zappella; Clelia Miracco
Global developmental delay, osteopenia and ectodermal defect: a new syndrome.
Brain & development 2006;28(3):155-61.
2005: Massimiliano Cecconi; Francesca Forzano; Donatella Milani; Simona Cavani; Chiara Baldo; Angelo Selicorni; Chiara Pantaleoni; Margherita Silengo; Giovanni Battista Ferrero; Gioacchino Scarano; Matteo Della Monica; Rita Fischetto; Paola Grammatico; Silvia Majore; Giuseppe Zampino; Luigi Memo; Emanuela Lucci Cordisco; Giovanni Neri; Mauro Pierluigi; Franca Dagna Bricarelli; M Grasso; Francesca Faravelli
Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth.
American journal of medical genetics. Part A 2005;134(3):247-53.
2003: Simona Cavani; C Perfumo; Francesca Faravelli; Michela Malacarne; M Sogliani; G Piombo; G Zerega; M Zucca; Franca Dagna Bricarelli; Mauro Pierluigi
Cryptic 1p36.3/6q25.2 translocation in three generations ascertained through a foetus with IUGR and cerebral malformations.
Prenatal diagnosis 2003;23(10):819-23.
2003: ventura Mario; Jonathan M Mudge; Valeria Palumbo; Sally Burn; Elisabeth Blennow; Mauro Pierluigi; Roberto Giorda; Orsetta Zuffardi; Nicoletta Archidiacono; Michael S Jackson; Mariano Rocchi
Neocentromeres in 15q24-26 map to duplicons which flanked an ancestral centromere in 15q25.
Genome research 2003;13(9):2059-68.
2003: Raffaella Zannolli; Francesca Macucci; Rosanna Maria Di Bartolo; L Serracca; Clelia Miracco; Maria Margherita De Santi; Fabio Giannini; Alessandro Malandrini; Paolo Galluzzi; S De Robertis; Theodora Hadjistilianou; Roberto Perotti; Michele Fimiani; T Doldo; Roberto Giorgetti; Simona Cavani; Mauro Pierluigi
Novel CNS syndrome and ectodermal dysplasia.
American journal of medical genetics. Part A 2003;116A(2):200-4.
2003: Raffaella Zannolli; Mauro Pierluigi; Lucia Pucci; N Lagrasta; O Gasparre; M R Matera; Rosanna Maria Di Bartolo; Maria Antonietta Mazzei; Palmino Sacco; Clelia Miracco; Maria Margherita De Santi; P Aitiani; Simona Cavani; L Pellegrini; Michele Fimiani; Carlo Alessandrini; Paolo Galluzzi; Walter Livi; Stefano Gonnelli; P Terrosi Vagnoli; Michele Zappella; Guido Morgese
18q-syndrome and ectodermal dysplasia syndrome: description of a child and his family.
American journal of medical genetics. Part A 2003;116A(2):192-9.
2002: Rosanna Chifari; Renzo Guerrini; Mauro Pierluigi; Simona Cavani; Vincenzo Sgrò; Maurizio Elia; Raffaele Canger; Maria Paola Canevini
Mild generalized epilepsy and developmental disorder associated with large inv dup(15).
Epilepsia 2002;43(9):1096-100.
2001: Raffaella Zannolli; Rosa Mostardini; Lucia Pucci; Livio Sorrentino; Maurizio Biagioli; Roberto Perotti; Massimo Guarna; Theodora Hadjistilianou; G Zerega; Mauro Pierluigi; B Franco; Alfonso D'Ambrosio; Guido Morgese
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)].
American journal of medical genetics 2001;102(1):29-35.
2001: E Rossi; F Piccini; Marcella Zollino; Giovanni Neri; Desiree Caselli; Romano Tenconi; C Castellan; R Carrozzo; Cesare Danesino; Orsetta Zuffardi; Angela Ragusa; Lucia Castiglia; Ornella Galesi; D Greco; Corrado Romano; Mauro Pierluigi; C Perfumo; Maja Di Rocco; Francesca Faravelli; Franca Dagna Bricarelli; Maria Clara Bonaglia; Maria Francesca Bedeschi; Renato Borgatti
Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations.
Journal of medical genetics 2001;38(6):417-20.
2001: Paola Cerruti Mainardi; C Perfumo; A Calì; G Coucourde; Guido Pastore; Simona Cavani; Federico Zara; J Overhauser; Mauro Pierluigi; Franca Dagna Bricarelli
Clinical and molecular characterisation of 80 patients with 5p deletion: genotype-phenotype correlation.
Journal of medical genetics 2001;38(3):151-8.
2000: C Perfumo; P Cerruti Mainardi; A Calí; G Coucourde; Federico Zara; Simona Cavani; J Overhauser; Franca Dagna Bricarelli; Mauro Pierluigi
The first three mosaic cri du chat syndrome patients with two rearranged cell lines.
Journal of medical genetics 2000;37(12):967-72.
2000: P Cerruti Mainardi; Andrea Guala; Guido Pastore; G Pozzo; Franca Dagna Bricarelli; Mauro Pierluigi
Psychomotor development in Cri du Chat Syndrome.
Clinical genetics 2000;57(6):459-61.
1999: Daniela Giardino; Daniela Bettio; Giulietta Gottardi; Nicoletta Rizzi; Mauro Pierluigi; C Perfumo; A Calì; Franca Dagna Bricarelli; Lidia Larizza
FISH characterization of two supernumerary r(1) associated with distinct clinical phenotypes.
American journal of medical genetics 1999;84(4):377-80.
1998: Simona Cavani; C Perfumo; A Argusti; Mauro Pierluigi; Lucia Perroni; K Schmiegelow; M B Petersen; Finbarr E Cotter; P Strigini; Franca Dagna Bricarelli; D Nizetić
Cytogenetic and molecular study of 32 Down syndrome families: potential leukaemia predisposing role of the most proximal segment of chromosome 21q.
British journal of haematology 1998;103(1):213-6.
1997: T Mattina; Mauro Pierluigi; D Mazzone; S Scardilli; C Perfumo; F Mollica
Double partial trisomy 9q34.1-->qter and 21pter-->q22.11: FISH and clinical findings.
Journal of medical genetics 1997;34(11):945-8.
1997: Mauro Pierluigi; P Battaglia; C Perfumo; Anna Baroncini; Franca Dagna Bricarelli
Combined use of cytogenetic analysis and FISH for the identification of two antenatal de novo markers as Robertsonian translocations involving the p arms.
Annales de génétique 1997;40(2):99-103.
1996: T Mattina; Mauro Pierluigi; C Perfumo; D Mazzone; S Scardilli; F Mollica
Antley-Bixler syndrome.
Clinical genetics 1996;50(4):277.
1996: Mauro Pierluigi; C Perfumo; S Cavani; H Lehrach; Dean Nizetic; Franca Dagna Bricarelli
An improved method for the detection of Down's syndrome aneuploidy in uncultured amniocytes.
Clinical genetics 1996;49(1):32-6.
1994: Mauro Pierluigi; C Perfumo; A Arslanian; A Giannotti; Franca Dagna Bricarelli
[In situ ++hybridization with painting probes in the definition of reciprocal translocations].
Pathologica 1994;86(1):106-9.
1992: C Perfumo; A Arslanian; F Zara; G Piombo; Mauro Pierluigi
[Non-radioactive in situ hybridization of alpha-satellite sequences in cytogenetic diagnosis].
Pathologica 1992;84(1091):363-9.
1991: G Filippi; A Arslanian; Franca Dagna Bricarelli; Mauro Pierluigi; M Grasso; A Rinaldi; M Rocchi; Marcello Siniscalco
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.
American journal of medical genetics 1991;40(4):387-94.
1990: P Strigini; R Sansone; S Carobbi; Mauro Pierluigi
Radiation and Down's syndrome.
Nature 1990;347(6295):717.
1990: R Sansone; Mauro Pierluigi; S Carobbi; M Cominetti; P Strigini
Disomic homozygosity and leukemia in Down's syndrome.
Human genetics 1990;85(3):386.
1990: P Strigini; Mauro Pierluigi; G L Forni; R Sansone; S Carobbi; M Grasso; Franca Dagna Bricarelli
Effect of x-rays on chromosome 21 nondisjunction.
American journal of medical genetics. Supplement 1990;7():155-9.
1990: Lucia Perroni; Franca Dagna Bricarelli; M Grasso; Mauro Pierluigi; M Baldi; C Pedemonte; P Strigini
Crossing over and chromosome 21 nondisjunction: a study of 60 families.
American journal of medical genetics. Supplement 1990;7():141-7.
1990: Franca Dagna Bricarelli; Mauro Pierluigi; M Grasso; P Strigini; Lucia Perroni
Origin of extra chromosome 21 in 343 families: cytogenetic and molecular approaches.
American journal of medical genetics. Supplement 1990;7():129-32.
1989: M Grasso; Maria Luisa Giovannucci Uzielli; Mauro Pierluigi; F Tavellini; Lucia Perroni; Franca Dagna Bricarelli
Isochromosome not translocation in trisomy 21q21q.
Human genetics 1989;84(1):63-5.
1989: Franca Dagna Bricarelli; Mauro Pierluigi; M Landucci; A Arslanian; D A Coviello; M A Ferro; P Strigini
Parental age and the origin of trisomy 21. A study of 302 families.
Human genetics 1989;82(1):20-6.
1988: Franca Dagna Bricarelli; Mauro Pierluigi; Lucia Perroni; M Grasso; A Arslanian; N Sacchi
High efficiency in the attribution of parental origin of non-disjunction in trisomy 21 by both cytogenetic and molecular polymorphisms.
Human genetics 1988;79(2):124-7.
1985: L Doria Lamba Carbone; Mauro Pierluigi; M A Ferro
[Prenatal cytogenetic diagnosis of a 69,XXX/46,XX fetus].
Pathologica 1985;77(1052):761-6.
1985: L Doria Lamba Carbone; Mauro Pierluigi; G Camera; Franca Dagna Bricarelli
[Fetal phenotypic aspects of trisomy 18. 9 cases diagnosed prenatally].
Pathologica 1985;77(1052):743-55.
1985: L Doria Lamba Carbone; G Barbieri; Mauro Pierluigi; C Vallega; D Dodero; M Chiappara; Franca Dagna Bricarelli
[Fetal cytogenetic findings in the first trimester. Personal experience].
Pathologica 1985;77(1052):731-42.
1985: Roberta Vanni; M De Murtas; Mauro Pierluigi; L Doria Lamba Carbone
[A case of fetal 46,XX in a woman with trisomy 21].
Pathologica 1985;77(1052):757-9.