M. Malacarne

发表

Subtelomeric deletions of chromosome 9q: A novel microdeletion syndrome

E. Zackai, I. Krantz, N. Spinner, 2004, American journal of medical genetics. Part A.

19q13 microdeletion syndrome: Further refining the critical region.

R. Bloise, F. Faravelli, D. Coviello, 2012, European journal of medical genetics.

3q26.33-3q27.2 microdeletion: a new microdeletion syndrome?

J. Hoffman, G. Mandrile, F. Faravelli, 2013, European journal of medical genetics.

1p31.1 microdeletion including only NEGR1 gene in two patients.

G. Gimelli, D. Coviello, M. Malacarne, 2020, European journal of medical genetics.

High-Throughput Gene and Protein Analysis Revealed the Response of Disc Cells to Vitamin D, Depending on the VDR FokI Variants

P. De Luca, M. Brayda-Bruno, D. Coviello, 2021, International journal of molecular sciences.

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.

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

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

HMGA2 overexpression in polycythemia vera with t(12;21)(q14;q22).

A. Ballestrero, R. Bruzzone, G. Cirmena, 2007, Cancer genetics and cytogenetics.

Paternal uniparental disomy chromosome 14‐like syndrome due a maternal de novo 160 kb deletion at the 14q32.2 region not encompassing the IG‐ and the MEG3‐DMRs: Patient report and genotype–phenotype correlation

M. Carella, V. Antona, G. Corsello, 2015, American journal of medical genetics. Part A.

Lack of SCN1A Mutations in Familial Febrile Seizures

F. Zara, E. Gennaro, B. Bernardina, 2002, Epilepsia.

10qter deletion: A new case

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

Expanding the phenotype associated with interstitial 6p25.1p24.3 microdeletion: a new case and review of the literature

G. Gimelli, M. Severino, D. Coviello, 2021, Journal of genetics.

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.

12q14.3 microdeletion involving HMGA2 gene cause a Silver-Russell syndrome-like phenotype: a case report and review of the literature

M. Piccione, M. Malacarne, T. Fragapane, 2020, Italian Journal of Pediatrics.

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.

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.

Perlman syndrome: Clinical report and nine‐year follow‐up

M. Piccione, A. Riccio, M. Cecconi, 2005, American journal of medical genetics. Part A.

Clinical Report Perlman Syndrome: Clinical Report and Nine-Year Follow-Up

M. Piccione, A. Riccio, M. Cecconi, 2005 .

17q23.3 de novo microdeletion involving only TANC2 gene: a new case.

G. Gimelli, D. Tortora, D. Coviello, 2020, European journal of medical genetics.

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.

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.

Testing single/combined clinical categories on 5110 Italian patients with developmental phenotypes to improve array‐based detection rate

A. Novelli, A. Renieri, R. Genesio, 2019, Molecular genetics & genomic medicine.

Prematurity, ventricular septal defect and dysmorphisms are independent predictors of pathogenic copy number variants: a retrospective study on array-CGH results and phenotypical features of 293 children with neurodevelopmental disorders and/or multiple congenital anomalies

S. Bernasconi, L. Garavelli, O. Zuffardi, 2018, Italian Journal of Pediatrics.

Microarray application in prenatal diagnosis: a position statement from the cytogenetics working group of the Italian Society of Human Genetics (SIGU), November 2011

L. Bernardini, A. Novelli, O. Zuffardi, 2012, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

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.

Further Delineation of Duplications of ARX Locus Detected in Male Patients with Varying Degrees of Intellectual Disability

M. Miano, M. Nicodemi, S. Bianco, 2022, International journal of molecular sciences.

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.

Benign familial infantile convulsions: mapping of a novel locus on chromosome 2q24 and evidence for genetic heterogeneity.

F. Zara, A. Bianchi, A. Gambardella, 2001, American journal of human genetics.

Custom Array Comparative Genomic Hybridization: the Importance of DNA Quality, an Expert Eye, and Variant Validation

Domenico Coviello, Francesca Lantieri, Michela Malacarne, 2017, International journal of molecular sciences.

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.

12q21 Interstitial Deletions: Seven New Syndromic Cases Detected by Array-CGH and Review of the Literature

C. Romano, S. Bianca, M. Piccione, 2022, Genes.

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.

8p23.2-pter Microdeletions: Seven New Cases Narrowing the Candidate Region and Review of the Literature

C. Romano, C. Baldo, L. Larizza, 2021, Genes.

Structural chromosomal abnormalities detected during CVS analysis and their role in the prenatal ascertainment of cryptic subtelomeric rearrangements

A. Percesepe, P. Magini, A. Farina, 2013, 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.

No Evidence of a Major Locus for Benign Familial Infantile Convulsions on Chromosome 19q12‐q13.1

F. Zara, R. Guerrini, E. Gennaro, 1999, Epilepsia.

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.

Psychomotor Development in Cri du Chat Syndrome: Comparison in Two Italian Cohorts with Different Rehabilitation Methods

C. Danesino, A. Guala, M. Comelli, 2016, TheScientificWorldJournal.

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.

Incidental Detection of a Chromosomal Aberration by Array-CGH in an Early Prenatal Diagnosis for Monogenic Disease on Coelomic Fluid

M. Piccione, D. Coviello, A. Maggio, 2022, Life.

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.

The crucial role of FBXO28 in the pathogenesis of the 1q41q42 microdeletion syndrome

E. Gennaro, A. Spalice, L. Papetti, 2016, American Journal of Medical Genetics. Part A.

Copy number variations in candidate genomic regions confirm genetic heterogeneity and parental bias in Hirschsprung disease

S. Gimelli, I. Ceccherini, D. Coviello, 2019, Orphanet Journal of Rare Diseases.

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.

Cryptic chromosome deletions involving SCN1A in severe myoclonic epilepsy of infancy

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

First-trimester euploid miscarriages analysed by array-CGH

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

M. Carella, G. Corsello, E. Piro, 2015, 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 : the official publication of the International Society of Psychiatric Genetics.