Publications by authors named "Enrico Alfei"

21Publications

CGH Findings in Children with Complex and Essential Autistic Spectrum Disorder.

Authors:
Silvia Annunziata Sara Bulgheroni Stefano D'Arrigo Silvia Esposito Matilde Taddei Veronica Saletti Enrico Alfei Francesca Luisa Sciacca Ambra Rizzo Chiara Pantaleoni Daria Riva

J Autism Dev Disord 2021 Jan 4. Epub 2021 Jan 4.

Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria 11, 20133, Milan, Italy.

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January 2021

Neurological phenotype of Potocki-Lupski syndrome.

Authors:
Claudia Ciaccio Chiara Pantaleoni Donatella Milani Enrico Alfei Francesca L Sciacca Laura Canafoglia Alessandra Erbetta Stefano D'Arrigo

Am J Med Genet A 2020 10 15;182(10):2317-2324. Epub 2020 Aug 15.

Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.

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October 2020

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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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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December 2018

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

Authors:
Ambra Rizzo Enrico Alfei Federica Zibordi Veronica Saletti Giovanna Zorzi Elena Freri Margherita Estienne Vita Girgenti Stefano D'Arrigo Silvia Esposito Barbara Buldrini Isabella Moroni Donatella Milani Tiziana Granata Anna Ardissone Marica Eoli Bruna Molteni Stefania Bigoni Chiara Pantaleoni Nardo Nardocci Francesca Luisa Sciacca

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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September 2018

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

Authors:
Diana Alcantara Andrew E Timms Karen Gripp Laura Baker Kaylee Park Sarah Collins Chi Cheng Fiona Stewart Sarju G Mehta Anand Saggar László Sztriha Melinda Zombor Oana Caluseriu Ronit Mesterman Margot I Van Allen Adeline Jacquinet Sofia Ygberg Jonathan A Bernstein Aaron M Wenger Harendra Guturu Gill Bejerano Natalia Gomez-Ospina Anna Lehman Enrico Alfei Chiara Pantaleoni Valerio Conti Renzo Guerrini Ute Moog John M Graham Robert Hevner William B Dobyns Mark O'Driscoll Ghayda M Mirzaa

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

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

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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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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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July 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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January 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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May 2016

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

Authors:
Fabiana Fattori Lorenzo Maggi Claudio Bruno Denise Cassandrini Valentina Codemo Michela Catteruccia Giorgio Tasca Angela Berardinelli Francesca Magri Marika Pane Anna Rubegni Lucio Santoro Lucia Ruggiero Patrizio Fiorini Antonella Pini Tiziana Mongini Sonia Messina Giacomo Brisca Irene Colombo Guja Astrea Chiara Fiorillo Cinzia Bragato Isabella Moroni Elena Pegoraro Maria Rosaria D'Apice Enrico Alfei Marina Mora Lucia Morandi Alice Donati Anni Evilä Anna Vihola Bjarne Udd Pia Bernansconi Eugenio Mercuri Filippo Maria Santorelli Enrico Bertini Adele D'Amico

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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July 2015

PDCD10 gene mutations in multiple cerebral cavernous malformations.

Authors:
Maria Sole Cigoli Francesca Avemaria Stefano De Benedetti Giovanni P Gesu Lucio Giordano Accorsi Stefano Parmigiani Maria Franca Corona Valeria Capra Andrea Mosca Simona Giovannini Francesca Notturno Fausta Ciccocioppo Lilia Volpi Margherita Estienne Giuseppe De Michele Antonella Antenora Leda Bilo Antonietta Tavoni Nelia Zamponi Enrico Alfei Giovanni Baranello Daria Riva Silvana Penco

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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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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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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September 2014

3q29 microdeletion syndrome: Cognitive and behavioral phenotype in four patients.

Authors:
Santina Città Serafino Buono Donatella Greco Concetta Barone Enrico Alfei Sara Bulgheroni Arianna Usilla Chiara Pantaleoni Corrado Romano

Am J Med Genet A 2013 Dec 24;161A(12):3018-22. Epub 2013 Sep 24.

Unit of Psychology, IRCCS Associazione Oasi Maria Santissima, Troina, Italy.

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December 2013

Partial Trisomy 13 and Partial Monosomy 8 Mosaicism Secondary to an Unbalanced De Novo Translocation: Highlighting an Uncommon Chromosomal Abnormality.

Authors:
Giovanni Baranello Claudia Cesaretti Fabio Zambonin Rosario Casalone Paola Granata Silvia Esposito Enrico Alfei Federica Natacci

J Child Neurol 2013 Nov 22;28(11):1463-1466. Epub 2013 Apr 22.

1UO Neurologia dello Sviluppo, Fondazione IRCCS Istituto Neurologico "C Besta", Milan, Italy.

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November 2013

Novel mutations in TSEN54 in pontocerebellar hypoplasia type 2.

Authors:
Roberta Battini Stefano D'Arrigo Denise Cassandrini Andrea Guzzetta Chiara Fiorillo Chiara Pantaleoni Alessandro Romano Enrico Alfei Giovanni Cioni Filippo M Santorelli

J Child Neurol 2014 Apr 9;29(4):520-5. Epub 2013 Jan 9.

*These authors equally contributed to the paper.

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April 2014

5p13 microduplication syndrome: a new case and better clinical definition of the syndrome.

Authors:
Francesca Novara Enrico Alfei Stefano D'Arrigo Chiara Pantaleoni Silvana Beri Valentina Achille Francesca L Sciacca Roberto Giorda Orsetta Zuffardi Roberto Ciccone

Eur J Med Genet 2013 Jan 18;56(1):54-8. Epub 2012 Oct 18.

Department of Molecular Medicine, University of Pavia, Pavia, Italy.

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January 2013

The Pitt-Hopkins syndrome: report of 16 new patients and clinical diagnostic criteria.

Authors:
Giuseppe Marangi Stefania Ricciardi Daniela Orteschi Serena Lattante Marina Murdolo Bruno Dallapiccola Chiara Biscione Rosetta Lecce Pietro Chiurazzi Corrado Romano Donatella Greco Rosa Pettinato Giovanni Sorge Chiara Pantaleoni Enrico Alfei Irene Toldo Cinzia Magnani Paolo Bonanni Federica Martinez Gigliola Serra Domenica Battaglia Donatella Lettori Gessica Vasco Anna Baroncini Cecilia Daolio Marcella Zollino

Am J Med Genet A 2011 Jul 10;155A(7):1536-45. Epub 2011 Jun 10.

Istituto di Genetica Medica, Università Cattolica del Sacro Cuore, Roma, Italy.

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July 2011

Glucose transporter type 1 deficiency: ketogenic diet in three patients with atypical phenotype.

Authors:
Pierangelo Veggiotti Federica Teutonico Enrico Alfei Nardo Nardocci Giovanna Zorzi Anna Tagliabue Valentina De Giorgis Umberto Balottin

Brain Dev 2010 May 9;32(5):404-8. Epub 2009 Jun 9.

Department of Child Neurology and Psychiatry, Fondazione IRCCS Istituto Neurologico C.Mondino, Pavia, Italy.

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May 2010