Mauro Pierluigi - Concepedia

Author

Mauro Pierluigi

Ente Ospedaliero Ospedali Galliera

Also Known As

Amedea Mencarelli, MAURO PIERLUIGI, Mauro Pierluigi

Publications

1.2K

Citations

H-Index

Concepts

All Affiliations

Ente Ospedaliero Ospedali Galliera University of Palermo Ospedale Vincenzo Cervello Istituti di Ricovero e Cura a Carattere Scientifico Azienda Ospedaliera S.Giuseppe Moscati

About

Mauro Pierluigi is an author at Ente Ospedaliero Ospedali Galliera specializing in genetics, molecular genetics, and medicine.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	5	5	198
2	Public Health	1	1	22
3	Social Sciences	1	1	21
4	Communicative Disorders	1	1	94
5	Molecular Biology	1	1	10

Mauro Pierluigi

Publications

948

Citations

H-Index

Page 1

	Year	Citations
<i>De novo</i> balanced chromosome rearrangements in prenatal diagnosis Daniela Giardino, Cecilia Corti, Lucia Ballarati, Prenatal Diagnosis	2009	139
Neocentromeres in 15q24-26 Map to Duplicons Which Flanked an Ancestral Centromere in 15q25 Mario Ventura, Jonathan M. Mudge, Valeria Palumbo, Genome Research	2003	119
Cytogenetic and molecular evaluation of 241 small supernumerary marker chromosomes: Cooperative study of 19 Italian laboratories Leda Dalprà, Daniela Giardino, Palma Finelli, Genetics in Medicine Genetic TestingCytogeneticsGenetic DisorderGeneticsPathology	2005	105
The natural history of Cri du Chat Syndrome. A report from the Italian Register Paola Cerruti Mainardi, Guido Pastore, Chiara Castronovo, European Journal of Medical Genetics Natural HistoryItalian RegisterCommunicative DisordersChat Syndrome	2006	94
14q13.1‐21.1 deletion encompassing the HPE8 locus in an adolescent with intellectual disability and bilateral microphthalmia, but without holoprosencephaly Maria Piccione, Gregorio Serra, V Consiglio, American Journal of Medical Genetics Part A	2012	62
Clinical phenotype and molecular characterization of 6q terminal deletion syndrome: Five new cases Pasquale Striano, Michela Malacarne, Simona Cavani, American Journal of Medical Genetics Part A	2006	52
6q Terminal Deletion Syndrome Associated with a Distinctive EEG and Clinical Pattern: A Report of Five Cases Maurizio Elia, Pasquale Striano, Marco Fichera, Epilepsia	2006	50
A 12.4 Mb direct duplication in 19q12-q13 in a boy with cardiac and CNS malformations and developmental delay Licia Lugli, Michela Malacarne, Simona Cavani, Journal of Applied Genetics	2011	40
Interstitial deletion of chromosome 2p15-16.1: Report of two patients and critical review of current genotype–phenotype correlation Maria Piccione, Ettore Piro, Francesca Serraino, European Journal of Medical Genetics ChromatinCritical ReviewCytogeneticsGenetic DisorderGenetics	2012	39
Expanding the phenotype of reciprocal 1q21.1 deletions and duplications: a case series Martina Busè, Helenia C. Cuttaia, Daniela Palazzo, The Italian Journal of Pediatrics/Italian journal of pediatrics	2017	39

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