Angela Peron

Angela Peron

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Angela Peron

Angela Peron

Publications by authors named "Angela Peron"

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Prenatal upper-limb mesomelia and 2q31.1 microdeletions affecting the regulatory genome.

Genet Med 2018 11;20(11):1483-1484

Medical Genetics Unit, Fondazione, Cà Granda Ospedale Maggiore Policlinico, Milan, Italy.

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http://dx.doi.org/10.1038/gim.2018.19DOI Listing
November 2018

Hot water epilepsy and SYN1 variants.

Epilepsia 2018 11;59(11):2162-2163

Child Neuropsychiatric Unit, Epilepsy Center, San Paolo Hospital, Department of Health Sciences, University of Milan, Milan, Italy.

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http://dx.doi.org/10.1111/epi.14572DOI Listing
November 2018

Healthcare transition from childhood to adulthood in Tuberous Sclerosis Complex.

Am J Med Genet C Semin Med Genet 2018 09 25;178(3):355-364. Epub 2018 Sep 25.

Department of Health Sciences, Child Neuropsychiatry Unit - Epilepsy Center, San Paolo Hospital, Università degli Studi di Milano, Milan, Italy.

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http://dx.doi.org/10.1002/ajmg.c.31653DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6635672PMC
September 2018

Current concepts on epilepsy management in tuberous sclerosis complex.

Am J Med Genet C Semin Med Genet 2018 09 26;178(3):299-308. Epub 2018 Sep 26.

Department of Neurology and Epileptology, The Children's Memorial Health Institute, Warsaw, Poland.

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http://doi.wiley.com/10.1002/ajmg.c.31652
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http://dx.doi.org/10.1002/ajmg.c.31652DOI Listing
September 2018

Genetics, genomics, and genotype-phenotype correlations of TSC: Insights for clinical practice.

Am J Med Genet C Semin Med Genet 2018 09 26;178(3):281-290. Epub 2018 Sep 26.

Department of Pediatrics, Division of Medical Genetics, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, Texas.

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http://dx.doi.org/10.1002/ajmg.c.31651DOI Listing
September 2018

Tuberous sclerosis complex.

Am J Med Genet C Semin Med Genet 2018 09 16;178(3):274-277. Epub 2018 Oct 16.

Department of Pediatrics, Division of Medical Genetics, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, Texas.

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http://dx.doi.org/10.1002/ajmg.c.31657DOI Listing
September 2018

Ictal signs in tuberous sclerosis complex: Clinical and video-EEG features in a large series of recorded seizures.

Epilepsy Behav 2018 08 12;85:14-20. Epub 2018 Jun 12.

Epilepsy Center-Child Neuropsychiatric Unit, ASST Santi Paolo e Carlo, Milan, Italy; Department of Health Sciences, University of Milan, Italy.

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http://dx.doi.org/10.1016/j.yebeh.2018.05.027DOI Listing
August 2018

Rhinencephalon changes in tuberous sclerosis complex.

Neuroradiology 2018 Aug 17;60(8):813-820. Epub 2018 Jun 17.

Pediatric Neurology and Neurophysiology Unit, Department of Woman and Child Health, University Hospital of Padova, Padova, PD, Italy.

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http://dx.doi.org/10.1007/s00234-018-2045-xDOI Listing
August 2018

Deep phenotyping of patients with Tuberous Sclerosis Complex and no mutation identified in TSC1 and TSC2.

Eur J Med Genet 2018 Jul 9;61(7):403-410. Epub 2018 Feb 9.

Child Neuropsychiatry Unit - Epilepsy Center, San Paolo Hospital, Milan, Italy; Department of Health Sciences, Università degli Studi di Milano, Milan, Italy.

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http://dx.doi.org/10.1016/j.ejmg.2018.02.005DOI Listing
July 2018

Dramatic relapse of seizures after everolimus withdrawal.

Eur J Paediatr Neurol 2018 Jan 3;22(1):203-206. Epub 2017 Aug 3.

Child Neuropsychiatry Unit - Epilepsy Center, ASST Santi Paolo e Carlo Hospital, Department of Health Sciences, University of Milan, Italy.

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http://dx.doi.org/10.1016/j.ejpn.2017.07.018DOI Listing
January 2018

Lennox-Gastaut syndrome in adulthood: Long-term clinical follow-up of 38 patients and analysis of their recorded seizures.

Epilepsy Behav 2017 12 7;77:73-78. Epub 2017 Nov 7.

Epilepsy Center, San Paolo Hospital, Milan, Italy; Department of Health Sciences, Università degli Studi di Milano, Italy.

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http://dx.doi.org/10.1016/j.yebeh.2017.09.006DOI Listing
December 2017

2q33.1q34 Deletion in a Girl with Brain Anomalies and Anorectal Malformation.

Cytogenet Genome Res 2016 3;150(1):23-28. Epub 2016 Dec 3.

Medical Genetics Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Università degli Studi di Milano, Milan, Italy.

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http://dx.doi.org/10.1159/000452090DOI Listing
January 2017

Effectiveness and tolerability of antiepileptic drugs in 104 girls with Rett syndrome.

Epilepsy Behav 2017 01 15;66:27-33. Epub 2016 Dec 15.

Epilepsy Center, San Paolo Hospital, Department of Health Sciences, Università degli Studi di Milano, Italy.

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http://dx.doi.org/10.1016/j.yebeh.2016.10.006DOI Listing
January 2017

Long-term outcome of epilepsy with onset in the first three years of life: Findings from a large cohort of patients.

Eur J Paediatr Neurol 2016 Jul 26;20(4):566-72. Epub 2016 Mar 26.

Epilepsy Center, San Paolo Hospital, Department of Health Sciences, University of Milan, Italy.

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http://dx.doi.org/10.1016/j.ejpn.2016.03.008DOI Listing
July 2016

Do patients with tuberous sclerosis complex have an increased risk for malignancies?

Am J Med Genet A 2016 06 7;170(6):1538-44. Epub 2016 Apr 7.

Child Neurology Unit-Epilepsy Center, San Paolo Hospital, Department of Health Sciences, Università degli Studi di Milano, Milan, Italy.

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http://dx.doi.org/10.1002/ajmg.a.37644DOI Listing
June 2016

Autism spectrum disorder in tuberous sclerosis complex: searching for risk markers.

Orphanet J Rare Dis 2015 Dec 2;10:154. Epub 2015 Dec 2.

Child Neuropsychiatry Unit - Epilepsy Center, AO San Paolo, Department of Health Sciences, Università degli Studi di Milano, Milan, Italy.

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http://dx.doi.org/10.1186/s13023-015-0371-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4668631PMC
December 2015

7p22.1 microduplication syndrome: Clinical and molecular characterization of an adult case and review of the literature.

Eur J Med Genet 2015 Nov 19;58(11):578-83. Epub 2015 Aug 19.

Lab. Citogenetica e Genetica Molecolare, IRCCS Istituto Auxologico Italiano, Milano, Italy.

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http://dx.doi.org/10.1016/j.ejmg.2015.08.003DOI Listing
November 2015

Glioblastoma multiforme in a child with tuberous sclerosis complex.

Am J Med Genet A 2015 Oct 6;167A(10):2388-93. Epub 2015 May 6.

Child Neurology Unit - Epilepsy Center, Department of Health Science, University of Milan, San Paolo Hospital, Milano, Italy.

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http://dx.doi.org/10.1002/ajmg.a.37158DOI Listing
October 2015

Molecular cytogenetic characterization of a 2q35-q37 duplication and a 4q35.1-q35.2 deletion in two cousins: a genotype-phenotype analysis.

Am J Med Genet A 2015 Jul 6;167(7):1551-9. Epub 2015 Apr 6.

Medical Genetics Unit, Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, Milan, Italy.

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http://dx.doi.org/10.1002/ajmg.a.37063DOI Listing
July 2015

Prenatal and postnatal findings in five cases of Fryns syndrome.

Prenat Diagn 2014 Dec 22;34(12):1227-30. Epub 2014 Jul 22.

Clinical Genetics Unit, Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, Milano, Italy.

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http://dx.doi.org/10.1002/pd.4447DOI Listing
December 2014

Hot water epilepsy: a video case of European boy with positive family history and subsequent non-reflex epilepsy.

Epileptic Disord 2014 Mar;16(1):96-100

Centro Epilessia, Neurologia 2, Azienda Ospedaliera San Paolo, Dipartimento di Scienze della Salute, Università degli Studi di Milano, Italy.

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http://dx.doi.org/10.1684/epd.2014.0640DOI Listing
March 2014

Snyder-Robinson syndrome: a novel nonsense mutation in spermine synthase and expansion of the phenotype.

Am J Med Genet A 2013 Sep 29;161A(9):2316-20. Epub 2013 Jul 29.

Clinical Genetics Service, V. Buzzi Children's Hospital, ICP, Milan, Italy.

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http://dx.doi.org/10.1002/ajmg.a.36116DOI Listing
September 2013

Interstitial 6q microdeletion syndrome and epilepsy: a new patient and review of the literature.

Am J Med Genet A 2013 Aug 21;161A(8):2009-15. Epub 2013 Jun 21.

Epilepsy Center, San Paolo Hospital, Department of Medicine Surgery and Dentistry, University of Milan, Milan, Italy.

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http://dx.doi.org/10.1002/ajmg.a.35993DOI Listing
August 2013

Medical care of adolescents and women with Rett syndrome: an Italian study.

Am J Med Genet A 2012 Jan 2;158A(1):13-8. Epub 2011 Dec 2.

Neurology Unit, Epilepsy Center, University of Milan, Italy.

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http://dx.doi.org/10.1002/ajmg.a.34367DOI Listing
January 2012