Enrico Alfei

Enrico Alfei

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Enrico Alfei

Enrico Alfei

Publications by authors named "Enrico Alfei"

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19Publications

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

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
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http://dx.doi.org/10.1016/j.ejmg.2018.12.001DOI Listing
December 2019

ZC4H2 deletions can cause severe phenotype in female carriers.

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.38155DOI Listing
May 2017

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

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.12164DOI Listing
July 2016

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

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.2015.09.010DOI Listing
January 2016

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

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.36746DOI 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.

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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http://dx.doi.org/10.1016/j.pediatrneurol.2014.05.029DOI Listing
September 2014

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

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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http://dx.doi.org/10.1002/ajmg.a.36142DOI Listing
December 2013

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

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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http://dx.doi.org/10.1177/0883073813483571DOI Listing
November 2013

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

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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http://dx.doi.org/10.1016/j.ejmg.2012.10.002DOI Listing
January 2013

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

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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http://dx.doi.org/10.1016/j.braindev.2009.04.013DOI Listing
May 2010