M. Magliozzi

发表

Arrhythmogenic cardiomyopathy in children according to "Padua criteria": Single pediatric center experience.

A. Amodeo, A. Novelli, A. Secinaro, 2022, International journal of cardiology.

Biallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathy.

P. de Knijff, B. Mulder, H. Brown, 2021, The Journal of clinical investigation.

Palmoplantar Keratoderma and Woolly Hair Revealing Asymptomatic Arrhythmogenic Cardiomyopathy.

A. Novelli, G. Zambruno, L. Guerra, 2019, Acta dermato-venereologica.

Cardiovascular Involvement in Pediatric FLNC Variants: A Case Series of Fourteen Patients

A. D’Amico, A. Amodeo, A. Novelli, 2022, Journal of cardiovascular development and disease.

First evidence of maternally inherited mosaicism in TGFBR1 and subtle primary myocardial changes in Loeys-Dietz syndrome: a case report

H. Dietz, A. Amodeo, A. Novelli, 2018, BMC Medical Genetics.

What is the impact of a novel MED12 variant on syndromic conotruncal heart defects? Analysis of case report on two male sibs

A. Novelli, G. Barrano, V. Antona, 2020, Italian Journal of Pediatrics.

8p23.1 deletion: Look out for left ventricular hypertrabeculation and not only congenital heart diseases. Single‐center experience and literature revision

A. Novelli, F. Drago, E. Pompei, 2021, American journal of medical genetics. Part A.

Small 4p16.3 deletions: Three additional patients and review of the literature

G. Scarano, M. Digilio, B. Dallapiccola, 2018, American journal of medical genetics. Part A.

A patient with mosaic USP9X gene variant.

A. Dall'asta, A. Novelli, V. Barili, 2022, European journal of medical genetics.

Delayed appearance of 3‐methylglutaconic aciduria in neonates with early onset metabolic cardiomyopathies: A potential pitfall for the diagnosis

R. Carrozzo, B. Dallapiccola, F. Drago, 2019, American journal of medical genetics. Part A.

Founder Effects for ATM Gene Mutations in Italian Ataxia Telangiectasia Families

B. Dallapiccola, L. Chessa, I. Torrente, 2009, Annals of human genetics.

Myoclonic status and central fever in Angelman syndrome due to paternal uniparental disomy

F. Consoli, A. Spalice, A. De Luca, 2015, Journal of neurogenetics.

Clinical and molecular characterizations of 11 new patients with type 1 Feingold syndrome: Proposal for selecting diagnostic criteria and further genetic testing in patients with severe phenotype

M. Digilio, C. Leoni, A. Novelli, 2021, American journal of medical genetics. Part A.

ATM gene alterations in chronic lymphocytic leukemia patients induce a distinct gene expression profile and predict disease progression

R. Foà, S. Chiaretti, A. Guarini, 2012, Haematologica.

Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan Syndrome

Monia Magliozzi, Bruno Dallapiccola, Alessandro Sartorio, 2017, Human mutation.

Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis.

Monia Magliozzi, Bruno Dallapiccola, Alessandro De Luca, 2013, European journal of medical genetics.

DHPLC Screening of ATM Gene in Italian Patients Affected by Ataxia-Telangiectasia: Fourteen Novel ATM Mutations

B. Dallapiccola, L. Chessa, I. Torrente, 2006, Disease markers.

Cantú syndrome versus Zimmermann-Laband syndrome: Report of nine individuals with ABCC9 variants.

S. Robertson, M. Digilio, F. Kortüm, 2020, European journal of medical genetics.

Cardiovascular Involvement in Pediatric Laminopathies. Report of Six Patients and Literature Revision

E. Bertini, B. Dallapiccola, A. Novelli, 2020, Frontiers in Pediatrics.

Defining the Epsilon‐Sarcoglycan (SGCE) Gene Phenotypic Signature in Myoclonus‐Dystonia: A Reappraisal of Genetic Testing Criteria

M. Edwards, K. Bhatia, M. Copetti, 2013, Movement disorders : official journal of the Movement Disorder Society.

FOXI3 pathogenic variants cause one form of craniofacial microsomia

J. Lupski, Xiaogang Wang, S. Antonarakis, 2023, Nature Communications.

Prenatal CFAP53-related laterality defect: case report and review of the literature

A. Pizzuti, L. Bernardini, A. Novelli, 2023, The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians.

Biallelic truncating variants in children with titinopathy represent a recognizable condition with distinctive muscular and cardiac characteristics: a report on five patients

A. Amodeo, A. Novelli, A. Secinaro, 2023, Frontiers in cardiovascular medicine.

Neonatal diagnosis of ACTA2‐related disease: A case report and review of literature

A. Novelli, G. Mastrogiorgio, V. Maglione, 2023, American journal of medical genetics. Part A.

Novel Variant in the USP9X Gene Is Associated with Congenital Heart Disease in a Male Patient: A Case Report and Literature Review

G. Zampino, A. Novelli, R. Fischetto, 2022, Molecular Syndromology.