Mauro Pierluigi

Ente Ospedaliero Ospedali Galliera — Italy

Biochemistry, Genetics and Molecular Biology · Life Sciences

18h-index1.2kcitations36works0.02yr avg
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Research Topics

Genomic variations and chromosomal abnormalities(28), Genetics and Neurodevelopmental Disorders(11), Chromosomal and Genetic Variations(8), Prenatal Screening and Diagnostics(7), Congenital heart defects research(6)

Publications35 total

Expanding the phenotype of reciprocal 1q21.1 deletions and duplications: a case series
˜The œItalian Journal of Pediatrics/Italian journal of pediatrics·2017· 39 citedOpen Access
Issue Information
Congenital Anomalies·2015Open Access
4p16.1-p15.31 duplication and 4p terminal deletion in a 3-years old Chinese girl: Array-CGH, genotype-phenotype and neurological characterization
European Journal of Paediatric Neurology·2015· 6 cited
Microdeletion 2q23.3q24.1: Exploring genotype‐phenotype correlations
Congenital Anomalies·2014· 5 citedOpen Access
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· 62 cited
Characterization of a complex rearrangement involving chromosomes 1, 4 and 8 by fish and array-CGH
Journal of Applied Genetics·2012· 7 cited
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· 40 cited
Molecular and clinical characterization of a small duplication Xp in a human female with psychiatric disorders
Journal of Genetics·2011· 4 cited
The first case of myoclonic epilepsy in a child with a de novo 22q11.2 microduplication
American Journal of Medical Genetics Part A·2011· 23 cited
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· 40 citedOpen Access
<i>FMR1</i>, <i>FMR2</i>, and <i>SLITRK2</i> deletion inside a paracentric inversion involving bands Xq27.3–q28 in a male and his mother
American Journal of Medical Genetics Part A·2010· 10 citedOpen Access
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·2010· 21 cited
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· 38 cited
Array CGH defined interstitial deletion on chromosome 14: a new case
European Journal of Pediatrics·2010· 11 cited
Subtelomeric FISH analysis in 76 patients with syndromic developmental delay/intellectual disability
˜The œItalian Journal of Pediatrics/Italian journal of pediatrics·2009· 8 citedOpen Access
<i>De novo</i> balanced chromosome rearrangements in prenatal diagnosis
Prenatal Diagnosis·2009· 139 citedOpen Access
10qter deletion: A new case
American Journal of Medical Genetics Part A·2008· 6 cited
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· 19 cited
Pure segmental trisomy 1q42‐qter in a boy with a severe phenotype
American Journal of Medical Genetics Part A·2007· 13 cited
Clinical phenotype and molecular characterization of 6q terminal deletion syndrome: Five new cases
American Journal of Medical Genetics Part A·2006· 52 cited
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Frequent Co-authors

Michela Malacarne(18), Simona Cavani(17), Maria Piccione(10), Giovanni Corsello(9), Francesca Faravelli(8), Orsetta Zuffardi(5), Marina Grasso(5), F. Dagna Bricarelli(4), Vincenzo Antona(4), Emilio Donti(3), Ettore Piro(3), L Perroni(3), Paolo Strigini(3), Massimo Mogni(3), Daniela Giardino(2), Cecilia Corti(2), Elena Sala(2), Nicoletta Villa(2), Giuseppe Piombo(2), Silvana Guerneri(2)