Publications Authored by Enrico Alfei

Clinical spectrum of PTEN mutation in pediatric patients. A bicenter experience.

Authors:

Claudia Ciaccio Veronica Saletti Stefano D'Arrigo Silvia Esposito Enrico Alfei Isabella Moroni Davide Tonduti Luisa Chiapparini Chiara Pantaleoni Donatella Milani

Eur J Med Genet 2019 Dec 4;62(12):103596. Epub 2018 Dec 4.

Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.

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https://linkinghub.elsevier.com/retrieve/pii/S17697212183042	Publisher Site
http://dx.doi.org/10.1016/j.ejmg.2018.12.001	DOI Listing

December 2019

Concurrent AFG3L2 and SPG7 mutations associated with syndromic parkinsonism and optic atrophy with aberrant OPA1 processing and mitochondrial network fragmentation.

Authors:

Stefania Magri Valentina Fracasso Massimo Plumari Enrico Alfei Daniele Ghezzi Cinzia Gellera Paola Rusmini Angelo Poletti Daniela Di Bella Antonio E Elia Chiara Pantaleoni Franco Taroni

Hum Mutat 2018 12 10;39(12):2060-2071. Epub 2018 Oct 10.

Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.

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http://dx.doi.org/10.1002/humu.23658	DOI Listing

December 2018

The noncoding RNA AK127244 in 2p16.3 locus: A new susceptibility region for neuropsychiatric disorders.

Am J Med Genet B Neuropsychiatr Genet 2018 09 14;177(6):557-562. Epub 2018 Aug 14.

Laboratory of Clinical Pathology and Medical Genetics, Foundation IRCCS C. Besta Neurological Institute, Milan, Italy.

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http://dx.doi.org/10.1002/ajmg.b.32649	DOI Listing

September 2018

Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly.

Brain 2017 Oct;140(10):2610-2622

Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA.

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https://academic.oup.com/brain/article/140/10/2610/4107301	Publisher Site
http://dx.doi.org/10.1093/brain/awx203	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6080423	PMC

October 2017

ZC4H2 deletions can cause severe phenotype in female carriers.

Authors:

Cristina Zanzottera Donatella Milani Enrico Alfei Ambra Rizzo Stefano D'Arrigo Susanna Esposito Chiara Pantaleoni

Am J Med Genet A 2017 May 27;173(5):1358-1363. Epub 2017 Mar 27.

Developmental Neurology Unit, Department of Pediatric Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.

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http://dx.doi.org/10.1002/ajmg.a.38155	DOI Listing

May 2017

Insights into 6q21-q22: Refinement of the critical region for acro-cardio-facial syndrome.

Authors:

Donatella Milani Giulia Anna Cagnoli Marco Baccarin Enrico Alfei Silvana Guerneri Susanna Esposito

Congenit Anom (Kyoto) 2016 Jul;56(4):187-189

Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy.

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http://dx.doi.org/10.1111/cga.12164	DOI Listing

July 2016

The Diagnostic Yield of Array Comparative Genomic Hybridization Is High Regardless of Severity of Intellectual Disability/Developmental Delay in Children.

Authors:

Stefano D'Arrigo Francesco Gavazzi Enrico Alfei Orsetta Zuffardi Cristina Montomoli Barbara Corso Erika Buzzi Francesca L Sciacca Sara Bulgheroni Daria Riva Chiara Pantaleoni

J Child Neurol 2016 May 28;31(6):691-9. Epub 2015 Oct 28.

Developmental Neurology Department, IRCCS Fondazione Istituto Neurologico "C. Besta," Milan, Italy.

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http://dx.doi.org/10.1177/0883073815613562	DOI Listing

May 2016

Chromosome 17q21.31 duplication syndrome: Description of a new familiar case and further delineation of the clinical spectrum.

Authors:

Federica Natacci Enrico Alfei Lucia Tararà Stefano D'Arrigo Orsetta Zuffardi Barbara Gentilin Chiara Pantaleoni

Eur J Paediatr Neurol 2016 Jan 22;20(1):183-7. Epub 2015 Oct 22.

UO Neurologia dello Sviluppo, Dipartimento di Neuroscienze Pediatriche, IRCCS Fondazione Istituto Neurologico "Carlo Besta", Via Celoria 11, Milan, Italy.

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http://dx.doi.org/10.1016/j.ejpn.2015.09.010	DOI Listing

January 2016

Centronuclear myopathies: genotype-phenotype correlation and frequency of defined genetic forms in an Italian cohort.

J Neurol 2015 Jul 10;262(7):1728-40. Epub 2015 May 10.

Unit for Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, Viale San Paolo 15, 00146, Rome, Italy.

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http://dx.doi.org/10.1007/s00415-015-7757-9	DOI Listing

July 2015

PDCD10 gene mutations in multiple cerebral cavernous malformations.

PLoS One 2014 29;9(10):e110438. Epub 2014 Oct 29.

Department of Laboratory Medicine, Medical Genetics Unit - Niguarda Ca' Granda Hospital, Milan, Italy.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0110438	PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4212902	PMC

June 2015

Seizures and EEG features in 74 patients with genetic-dysmorphic syndromes.

Authors:

Enrico Alfei Federico Raviglione Silvana Franceschetti Stefano D'Arrigo Donatella Milani Angelo Selicorni Daria Riva Orsetta Zuffardi Chiara Pantaleoni Simona Binelli

Am J Med Genet A 2014 Dec 24;164A(12):3154-61. Epub 2014 Sep 24.

Developmental Neurology Division, Carlo Besta Neurological Institute, I.R.C.C.S. Foundation, Milan, Italy.

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http://dx.doi.org/10.1002/ajmg.a.36746	DOI Listing

December 2014

Hyperargininemia: 7-month follow-up under sodium benzoate therapy in an Italian child presenting progressive spastic paraparesis, cognitive decline, and novel mutation in ARG1 gene.

Authors:

Giovanni Baranello Enrico Alfei Diego Martinelli Manuela Rizzetto Fabiana Cazzaniga Carlo Dionisi-Vici Cinzia Gellera Barbara Castellotti

Pediatr Neurol 2014 Sep 4;51(3):430-3. Epub 2014 Jun 4.

Unit of Genetics of Neurodegenerative and Metabolic Diseases, Department of Diagnostic and Applied Techonology, Fondazione IRCCS Istituto Neurologico "Carlo Besta", Milan, Italy.

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