Publications Authored by Paolo Prontera

Schilbach-Rott syndrome associated with 9q22.32q22.33 duplication, involving the PTCH1 gene.

Authors:

Paolo Prontera Daniela Rogaia Ester Sallicandro Amedea Mencarelli Valentina Imperatore Gabriella Maria Squeo Giuseppe Merla Sandro Elisei Danilo Moretti-Ferreira Susanna Esposito Gabriela Stangoni

Eur J Hum Genet 2019 Aug 1;27(8):1260-1266. Epub 2019 Apr 1.

Medical Genetics Unit, University-Hospital "Santa Maria della Misericordia", Perugia, Italy.

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http://dx.doi.org/10.1038/s41431-019-0385-6	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6777447	PMC

August 2019

Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants.

Authors:

Lucilla Pizzo Matthew Jensen Andrew Polyak Jill A Rosenfeld Katrin Mannik Arjun Krishnan Elizabeth McCready Olivier Pichon Cedric Le Caignec Anke Van Dijck Kate Pope Els Voorhoeve Jieun Yoon Paweł Stankiewicz Sau Wai Cheung Damian Pazuchanics Emily Huber Vijay Kumar Rachel L Kember Francesca Mari Aurora Curró Lucia Castiglia Ornella Galesi Emanuela Avola Teresa Mattina Marco Fichera Luana Mandarà Marie Vincent Mathilde Nizon Sandra Mercier Claire Bénéteau Sophie Blesson Dominique Martin-Coignard Anne-Laure Mosca-Boidron Jean-Hubert Caberg Maja Bucan Susan Zeesman Małgorzata J M Nowaczyk Mathilde Lefebvre Laurence Faivre Patrick Callier Cindy Skinner Boris Keren Charles Perrine Paolo Prontera Nathalie Marle Alessandra Renieri Alexandre Reymond R Frank Kooy Bertrand Isidor Charles Schwartz Corrado Romano Erik Sistermans David J Amor Joris Andrieux Santhosh Girirajan

Genet Med 2019 04 7;21(4):816-825. Epub 2018 Sep 7.

Department of Biochemistry and Molecular Biology, The Pennsylvania State University, University Park, PA, USA.

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http://dx.doi.org/10.1038/s41436-018-0266-3	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6405313	PMC

April 2019

GEN-O-MA project: an Italian network studying clinical course and pathogenic pathways of moyamoya disease-study protocol and preliminary results.

Authors:

Anna Bersano Gloria Bedini Sara Nava Francesco Acerbi Davide Rossi Sebastiano Simona Binelli Silvana Franceschetti Giuseppe Faragò Marina Grisoli Andrea Gioppo Paolo Ferroli Maria Grazia Bruzzone Daria Riva Elisa Ciceri Chiara Pantaleoni Veronica Saletti Silvia Esposito Nardo Nardocci Federica Zibordi Luigi Caputi Stefania Bianchi Marzoli Maria Luisa Zedde Marco Pavanello Alessandro Raso Valeria Capra Leonardo Pantoni Cristina Sarti Alessandro Pezzini Filomena Caria Maria Luisa Dell' Acqua Andrea Zini Claudio Baracchini Filippo Farina Sandro Sanguigni Maria Luisa De Lodovici Giorgio Bono Fioravanti Capone Vincenzo Di Lazzaro Silvia Lanfranconi Massimiliano Toscano Vittorio Di Piero Simona Sacco Antonio Carolei Danilo Toni Maurizio Paciaroni Valeria Caso Patrizia Perrone Maria Vittoria Calloni Alfredo Romani Marco Cenzato Alessia Fratianni Emilio Ciusani Paolo Prontera Elisabeth Tournier Lasserve Kinga Blecharz Peter Vajkoczy Eugenio Agostino Parati

Neurol Sci 2019 Mar 3;40(3):561-570. Epub 2019 Jan 3.

Cerebrovascular Unit, Neurological Institute "C. Besta" IRCCS Foundation, Milan, Italy.

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http://link.springer.com/10.1007/s10072-018-3664-z	Publisher Site
http://dx.doi.org/10.1007/s10072-018-3664-z	DOI Listing

March 2019

Imerslund-Gräsbeck Syndrome in an Infant with a Novel Intronic Variant in the Gene: A Case Report.

Authors:

Alessandra Pacitto Paolo Prontera Gabriela Stangoni Maurizio Stefanelli Stefania Ceppi Carla Cerri Grazia Gurdo Annalisa Mencarelli Susanna Esposito

Int J Mol Sci 2019 Jan 27;20(3). Epub 2019 Jan 27.

Pediatric Clinic, Department of Surgical and Biomedical Sciences, Università degli Studi di Perugia, Piazza Menghini 1, 06129 Perugia, Italy.

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http://dx.doi.org/10.3390/ijms20030527	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6387074	PMC

January 2019

Long-term follow-up in pediatric patients with paroxysmal hypothermia (Shapiro's syndrome).

Authors:

Nicola Tambasco Federico Paolini Paoletti Giulia Prato Maria Margherita Mancardi Paolo Prontera Lucio Giordano Salvatore Grosso Antonino Romeo Francesca Pinto Salvatore Savasta Cinzia Peruzzi Michele Romoli Pasquale Striano Alberto Verrotti Vincenzo Belcastro

Eur J Paediatr Neurol 2018 Nov 29;22(6):1081-1086. Epub 2018 Aug 29.

Neurology Unit, S. Anna Hospital, Como, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2018.08.004	DOI Listing

November 2018

The 7q11.23 Protein DNAJC30 Interacts with ATP Synthase and Links Mitochondria to Brain Development.

Cell 2018 11;175(4):1088-1104.e23

Department of Neuroscience and Kavli Institute for Neuroscience, Yale School of Medicine, New Haven, CT 06510, USA; Department of Psychiatry, Yale School of Medicine, New Haven, CT 06510, USA; Departments of Genetics and of Comparative Medicine, Program in Cellular Neuroscience, Neurodegeneration and Repair, and Yale Child Study Center, Yale School of Medicine, New Haven, CT 06510, USA. Electronic address:

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http://dx.doi.org/10.1016/j.cell.2018.09.014	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6459420	PMC

November 2018

Expanding the Clinical Spectrum of Sotos Syndrome in a Patient with the New "c.[5867T>A]+[=]"; "p.[Leu1956Gln]+[=]" Missense Mutation and Complex Skin Hamartoma.

Authors:

Annalisa Mencarelli Paolo Prontera Amedea Mencarelli Daniela Rogaia Gabriela Stangoni Massimiliano Cecconi Susanna Esposito

Int J Mol Sci 2018 Oct 16;19(10). Epub 2018 Oct 16.

Pediatric Clinic, Department of Surgical and Biomedical Sciences, Università degli Studi di Perugia, Piazza Menghini 1, 06129 Perugia, Italy.

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http://www.mdpi.com/1422-0067/19/10/3189	Publisher Site
http://dx.doi.org/10.3390/ijms19103189	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6213993	PMC

October 2018

Mutations in the Neuroblastoma Amplified Sequence gene in a family affected by Acrofrontofacionasal Dysostosis type 1.

Authors:

Eleonora Palagano Giulia Zuccarini Paolo Prontera Renato Borgatti Gabriela Stangoni Sandro Elisei Stefano Mantero Ciro Menale Antonella Forlino Paolo Uva Manuela Oppo Paolo Vezzoni Anna Villa Giorgio R Merlo Cristina Sobacchi

Bone 2018 09 19;114:125-136. Epub 2018 Jun 19.

Humanitas Clinical and Research Institute, via Manzoni 113, 20089 Rozzano, Italy; CNR-IRGB, Milan Unit, via Fantoli 16/15, 20138 Milan, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.bone.2018.06.013	DOI Listing

September 2018

A Child with a c.6923_6928dup (p.Arg2308_Met2309dup) Mutation Associated with a Severe Early Infantile Epileptic Encephalopathy.

Authors:

Valentina Rapaccini Susanna Esposito Francesco Strinati Mariella Allegretti Elisabetta Manfroi Francesco Miconi Mariabernarda Pitzianti Paolo Prontera Nicola Principi Augusto Pasini

Int J Mol Sci 2018 07 6;19(7). Epub 2018 Jul 6.

Department of Systems Medicine, Unit of Child Neurology and Psychiatry, "Tor Vergata" University of Rome, 00133 Rome, Italy.

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http://dx.doi.org/10.3390/ijms19071976	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6073498	PMC

July 2018

Typical features of Parkinson disease and diagnostic challenges with microdeletion 22q11.2.

Neurology 2018 06 11;90(23):e2059-e2067. Epub 2018 May 11.

From The Dalglish Family 22q Clinic for Adults and Department of Psychiatry (E.B., A.M.F., A.S.B.), Toronto General Research Institute (A.S.B.), and Division of Cardiology, Department of Medicine (A.S.B.), University Health Network, Toronto, Canada; De Hartekamp Groep (E.B.), Centre for People with Intellectual Disability, Haarlem; Department of Nuclear Medicine (E.B., J.B.), Academic Medical Center, Amsterdam, the Netherlands; Clinical Genetics Research Program and Campbell Family Mental Health Research Institute (N.J.B., A.M.F., A.S.B.), Centre for Addiction and Mental Health, Toronto; Institute of Medical Science (N.J.B., M.M., A.E.L., A.S.B.), Division of Neurology, Department of Medicine (C.M., M.M., A.E.L.), and Department of Psychiatry (A.S.B.), University of Toronto; Deer Lodge Movement Disorders Centre (S.U.); Section of Neurology (S.U.), Division of Internal Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg; Morton and Gloria Shulman Movement Disorders Centre and the Edmond J. Safra Program in Parkinson's Disease Research (C.M., A.E.L.), Toronto Western Hospital and University of Toronto, Canada; Department of Molecular Neuroscience (K.Y.M., N.W.W.), UCL Institute of Neurology, London, UK; Department of Neurology (S.K.), Kansai Medical University, Osaka, Japan; Department of Neurology (M.J.B.), University of Virginia School of Medicine, Charlottesville; Medical Genetics Unit (P.P.), Perugia University Hospital, Italy; Department of Neurology (B.D.B.), University of Colorado Anschutz Medical Campus, Aurora; Neurology Section (B.D.B.), VA Eastern Colorado Health Care System, Denver; Cognitive & Movement Disorders Clinic and Hurvitz Brain Sciences Research Program (M.M.), Sunnybrook Health Sciences Centre, Toronto, Canada; Departments of Clinical Neurosciences (Movement Disorders) (B.D.) and Genetics (Neurogenetics) (K.N.), Timone University Hospital (AP-HM), Provence-Alpes-Côte d'Azur; Aix-Marseille University (B.D., K.N.), Marseille; Department of Genetics (Neurogenetics) (P.C., A.J.), Pitié-Salpêtrière University Hospital; Sorbonne University (P.C., A.J.), Paris; Department of Neurosciences (Movement Disorders) (E.M.), Lille University Hospital; Lille University (E.M.); Department of Neurology (Movement Disorders) (T.D.), Pierre Wertheimer University Hospital, Lyon; Marc Jeannerod Center for Cognitive Neurosciences (T.D.), Lyon-1 University; Department of Neurology (Movement Disorders) and Clinical Investigation Center (Clinical and Experimental Neurosciences) (O.C.), Poitiers University Hospital; Department of Neurology (Movement Disorders) (S.D.), Rennes University Hospital; Rennes-1 University (S.D.); Department of Clinical Neurosciences (Movement Disorders) (M.B.), Nice University Hospital, France; Department of Psychiatry (A.M.F.), Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, the Netherlands; Center for Human Genetics (E.V., A.S., A.V.), University Hospital Leuven; Department of Human Genetics (A.S.), KU Leuven, Belgium; Department of Neurology (A.P.), University of Munich, Germany; Scientific and Technological Coordination Unit of the ANLIS Directorate (C.P.), National Administration of Laboratories and Institutes of Health, Argentina; Department of Neurodegenerative Diseases (T.G.), Center of Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen; German Center for Neurodegenerative Diseases (DZNE) (T.G.); Department of Neurology (K.C.), AZ Turnhout, Antwerp, Belgium; Neurology Unit and Stroke Center (F.B.), Hôpital Foch, Suresnes, France; Movement Disorder Division (K.M.), Johns Hopkins University, Baltimore, MD; and Psychological Medicine and Clinical Neurosciences (N.M.W.), MRC Centre for Neuropsychiatric Genetics and Genomics, Cardiff University School of Medicine, Cardiff University, UK.

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http://dx.doi.org/10.1212/WNL.0000000000005660	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5993183	PMC

June 2018

Report of a Novel Missense Variant in a Boy With Short Stature and His Mother With Leri-Weill Dyschondrosteosis.

Authors:

Laura Lucchetti Paolo Prontera Amedea Mencarelli Ester Sallicandro Annalisa Mencarelli Marta Cofini Alberto Leonardi Gabriela Stangoni Laura Penta Susanna Esposito

Front Endocrinol (Lausanne) 2018 10;9:163. Epub 2018 Apr 10.

Pediatric Clinic, Department of Surgical and Biomedical Sciences, Università degli Studi di Perugia, Perugia, Italy.

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http://dx.doi.org/10.3389/fendo.2018.00163	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5902492	PMC

April 2018

Late-Onset N-Acetylglutamate Synthase Deficiency: Report of a Paradigmatic Adult Case Presenting with Headaches and Review of the Literature.

Authors:

Catia Cavicchi Chiara Chilleri Antonella Fioravanti Lorenzo Ferri Francesco Ripandelli Cinzia Costa Paolo Calabresi Paolo Prontera Francesca Pochiero Elisabetta Pasquini Silvia Funghini Giancarlo la Marca Maria Alice Donati Amelia Morrone

Int J Mol Sci 2018 Jan 24;19(2). Epub 2018 Jan 24.

Molecular and Cell Biology Laboratory of Neurometabolic Diseases, Neuroscience Department, Meyer Children's Hospital, 50139 Florence, Italy.

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http://dx.doi.org/10.3390/ijms19020345	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5855567	PMC

January 2018

Clinical features and outcome of 6 new patients carrying de novo gene mutations.

Authors:

Carla Marini Michele Romoli Elena Parrini Cinzia Costa Davide Mei Francesco Mari Lucio Parmeggiani Elena Procopio Tiziana Metitieri Elena Cellini Simona Virdò Dalila De Vita Mattia Gentile Paolo Prontera Paolo Calabresi Renzo Guerrini

Neurol Genet 2017 Dec 11;3(6):e206. Epub 2017 Dec 11.

Pediatric Neurology Unit (C.M., E.P., D.M., F.M., T.M., E.C., S.V., D.D.V., R.G.), Neurogenetics and Neurobiology Laboratories, Neuroscience Department, A. Meyer Pediatric Hospital, University of Florence; Neurology Unit (M.R., C.C., P.C.), Department of Medicine, University of Perugia, Ospedale S. Maria della Misericordia; Child Neurology Service (L.P.), Hospital of Bolzano; Metabolic Unit (E.P.), A. Meyer Pediatric Hospital, Florence; Medical Genetics Unit (M.G.), Azienda Sanitaria Locale Bari; Neonatology Unit and Prenatal Diagnosis (P.P.), Medical Genetic Unit, Ospedale S. Maria della Misericordia, Perugia; Department of Experimental Neurosciences (P.C.), "Istituto di Ricovero e Cura a Carattere Scientifico," IRCCS Santa Lucia Foundation, Rome; and IRCCS Stella Maris Foundation (R.G.), Calambrone, Pisa, Italy.

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http://dx.doi.org/10.1212/NXG.0000000000000206	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5733250	PMC

December 2017

Autosomal Dominant PTH Gene Signal Sequence Mutation in a Family With Familial Isolated Hypoparathyroidism.

Authors:

Luigia Cinque Angelo Sparaneo Laura Penta Amedea Mencarelli Daniela Rogaia Susanna Esposito Federico Pio Fabrizio Filomena Baorda Alberto Verrotti Alberto Falorni Gabriela Stangoni Geoffrey N Hendy Vito Guarnieri Paolo Prontera

J Clin Endocrinol Metab 2017 11;102(11):3961-3969

Regional Reference Centre for Medical Genetics, "Santa Maria della Misericordia" Hospital, Perugia 06129, Italy.

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http://dx.doi.org/10.1210/jc.2017-00250	DOI Listing

November 2017

Epileptogenic Brain Malformations and Mutations in Tubulin Genes: A Case Report and Review of the Literature.

Authors:

Annalisa Mencarelli Paolo Prontera Gabriela Stangoni Elisabetta Mencaroni Nicola Principi Susanna Esposito

Int J Mol Sci 2017 Oct 29;18(11). Epub 2017 Oct 29.

Pediatric Clinic, Department of Surgical and Biomedical Sciences, Università degli Studi di Perugia, 06123 Perugia, Italy.

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http://www.mdpi.com/1422-0067/18/11/2273	Publisher Site
http://dx.doi.org/10.3390/ijms18112273	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5713243	PMC

October 2017

A Clinical and Molecular Survey of 62 Cystic Fibrosis Patients from Umbria (Central Italy) Disclosing a High Frequency (2.4%) of the 2184insA Allele: Implications for Screening.

Authors:

Paolo Prontera Ilenia Isidori Valeria Mencarini Guido Pennoni Amedea Mencarelli Gabriela Stangoni Giuseppe Di Cara Alberto Verrotti

Public Health Genomics 2016 12;19(6):336-341. Epub 2016 Oct 12.

Medical Genetics Unit, Hospital 'S. Maria della Misericordia', Perugia, Italy.

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http://dx.doi.org/10.1159/000450849	DOI Listing

September 2017

Juvenile Moyamoya and Craniosynostosis in a Child with Deletion 1p32p31: Expanding the Clinical Spectrum of 1p32p31 Deletion Syndrome and a Review of the Literature.

Authors:

Paolo Prontera Daniela Rogaia Amedea Mencarelli Valentina Ottaviani Ester Sallicandro Giorgio Guercini Susanna Esposito Anna Bersano Giuseppe Merla Gabriela Stangoni

Int J Mol Sci 2017 Sep 17;18(9). Epub 2017 Sep 17.

Medical Genetics Unit, S. Maria della Misericordia Hospital, University of Perugia, 06123 Perugia, Italy.

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http://dx.doi.org/10.3390/ijms18091998	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5618647	PMC

September 2017

Genotype-phenotype correlation of F484L mutation in three Italian families with Thomsen myotonia.

Authors:

Marco Cassone Valentina Ferradini Giuliana Longo Paola Sarchielli Donatella Murasecco Michele Romoli Elisabetta Pasquini Giuseppe Novelli Paolo Prontera Federica Sangiuolo

Muscle Nerve 2017 06 26;55(6):E24-E25. Epub 2017 Mar 26.

Department of Biomedicine and Prevention, University Tor Vergata Rome, Italy.

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http://dx.doi.org/10.1002/mus.25407	DOI Listing

June 2017

Research Progresses in Understanding the Pathophysiology of Moyamoya Disease.

Cerebrovasc Dis 2016 12;41(3-4):105-18. Epub 2016 Jan 12.

Cerebrovascular Disease Unit, IRCCS Foundation C. Besta, Neurological Institute, Milan, Italy.

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http://dx.doi.org/10.1159/000442298	DOI Listing

December 2016

A53T in a parkinsonian family: a clinical update of the SNCA phenotypes.

Authors:

Nicola Tambasco Pasquale Nigro Michele Romoli Paolo Prontera Simone Simoni Paolo Calabresi

J Neural Transm (Vienna) 2016 11 1;123(11):1301-1307. Epub 2016 Jun 1.

Clinica Neurologica, Azienda Ospedaliera e Universitaria di Perugia, S.Andrea delle Fratte, 06156, Perugia, Italy.

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http://dx.doi.org/10.1007/s00702-016-1578-6	DOI Listing

November 2016

A novel MED12 mutation: Evidence for a fourth phenotype.

Authors:

Paolo Prontera Valentina Ottaviani Daniela Rogaia Ilenia Isidori Amedea Mencarelli Natascia Malerba Dario Cocciadiferro Pfundt Rolph Gabriela Stangoni Anneke Vulto-van Silfhout Giuseppe Merla

Am J Med Genet A 2016 09 17;170(9):2377-82. Epub 2016 Jun 17.

Medical Genetics Unit, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia, Italy.

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http://dx.doi.org/10.1002/ajmg.a.37805	DOI Listing

September 2016

Erratum to: A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver-Russell and Beckwith-Wiedemann syndromes.

Clin Epigenetics 2016 21;8:40. Epub 2016 Apr 21.

Human Molecular Genetics Laboratory, IRCCS Istituto Auxologico Italiano, Milano, Italy.

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http://dx.doi.org/10.1186/s13148-016-0206-5	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4840904	PMC

July 2016

A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver-Russell and Beckwith-Wiedemann syndromes.

Clin Epigenetics 2016 1;8:23. Epub 2016 Mar 1.

Human Molecular Genetics Laboratory, IRCCS Istituto Auxologico Italiano, Milano, Italy.

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http://dx.doi.org/10.1186/s13148-016-0183-8	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4772365	PMC

April 2016

Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients.

J Inherit Metab Dis 2016 Mar 16;39(2):243-52. Epub 2015 Oct 16.

Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.

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http://dx.doi.org/10.1007/s10545-015-9894-9	DOI Listing

March 2016

JAG1 Loss-Of-Function Variations as a Novel Predisposing Event in the Pathogenesis of Congenital Thyroid Defects.

Authors:

Tiziana de Filippis Federica Marelli Gabriella Nebbia Patrizia Porazzi Sabrina Corbetta Laura Fugazzola Roberto Gastaldi Maria Cristina Vigone Roberta Biffanti Daniela Frizziero Luana Mandarà Paolo Prontera Mariacarolina Salerno Mohamad Maghnie Natascia Tiso Giorgio Radetti Giovanna Weber Luca Persani

J Clin Endocrinol Metab 2016 Mar 13;101(3):861-70. Epub 2016 Jan 13.

Laboratorio di Ricerche Endocrino-Metaboliche (T.d.F., F.M., P.Po., L.P.), Istituto di Ricevero e Cura a Carattere Scientifico (IRCCS) Istituto Auxologico Italiano, 20149 Milano, Italy; Clinica Pediatrica De Marchi (G.N.) and Unità di Endocrinologia (L.F.), Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico; Dipartimento di Fisiopatologia Medica e Chirurgica e dei Trapianti (L.F.), Università degli Studi di Milano; and Dipartimento di Scienze Cliniche e di Comunità (L.P.), Università di Milano, 20122 Milano, Italy; Unità di Endocrinologia (S.C.), IRCCS Policlinico San Donato, 20097 San Donato Milanese, Milano, Italy; Dipartimento di Scienze Biomediche per la Salute (S.C.), Università degli Studi di Milano, IRCCS Policlinico San Donato, 20097 San Donato Milanese, Milano, Italy; Dipartimento di Pediatria (R.G., M.M.), IRCCS Giannina Gaslini, Università di Genova, 16148 Genova, Italy; Dipartimento di Pediatria (M.C.V., G.E.), IRCCS Istituto San Raffaele, Università Vita-Salute San Raffaele, 20132 Milano, Italy; Dipartimento di Scienze Cardiache, Vascolari e Toraciche (R.B.), Università di Padova, 35128 Padova, Italy; Unità di Genetica Clinica ed Epidemiologica (D.F.), Università degli Studi-Azienda Ospedaliera di Padova, 35128 Padova, Italy; Unità di Genetica Medica (L.M.), Ospedale Maria Paternò Arezzo, 97100 Ragusa, Italy; Centro di Riferimento Regionale di Genetica Medica (P.Pr.), Azienda Ospedaliera-Universitaria di Perugia, 06156 Perugia, Italy; Dipartimento di Scienze Mediche Traslazionali (M.S.), Università degli Studi Federico II, 80131 Napoli, Italy; Dipartimento di Biologia (N.T.), Università di Padova, 35128 Padova, Italy; and Divisione Pediatrica (G.R.), Ospedale Regionale di Bolzano, 39100 Bolzano, Italy.

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http://dx.doi.org/10.1210/jc.2015-3403	DOI Listing

March 2016

Migraine and epilepsy: what value today?

Authors:

Cinzia Costa Paolo Prontera Stefano Caproni Letizia M Cupini Paola Sarchielli Paolo Calabresi

J Headache Pain 2015 Dec;16(Suppl 1):A44

Clinica Neurologica, Università di Perugia, Ospedale S. Maria della Misericordia, Perugia, Italy.

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http://dx.doi.org/10.1186/1129-2377-16-S1-A44	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4759038	PMC

December 2015

A New Homozygous IGF1R Variant Defines a Clinically Recognizable Incomplete Dominant form of SHORT Syndrome.

Authors:

Paolo Prontera Lucia Micale Alberto Verrotti Valerio Napolioni Gabriela Stangoni Giuseppe Merla

Hum Mutat 2015 Nov 24;36(11):1043-7. Epub 2015 Aug 24.

Medical Genetics Unit, IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo, Italy.

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http://dx.doi.org/10.1002/humu.22853	DOI Listing

November 2015

RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome.

J Clin Invest 2015 Sep 17;125(9):3585-99. Epub 2015 Aug 17.

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http://dx.doi.org/10.1172/JCI80102	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4588287	PMC

September 2015

Stem cells from human amniotic fluid exert immunoregulatory function via secreted indoleamine 2,3-dioxygenase1.

J Cell Mol Med 2015 Jul 17;19(7):1593-605. Epub 2015 Mar 17.

Department of Experimental Medicine, University of Perugia, Perugia, Italy.

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http://dx.doi.org/10.1111/jcmm.12534	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4511357	PMC

July 2015

2p15-p16.1 microdeletions encompassing and proximal to BCL11A are associated with elevated HbF in addition to neurologic impairment.

Authors:

Alister P W Funnell Paolo Prontera Valentina Ottaviani Maria Piccione Antonino Giambona Aurelio Maggio Fiorella Ciaffoni Sandra Stehling-Sun Manuela Marra Francesca Masiello Lilian Varricchio John A Stamatoyannopoulos Anna R Migliaccio Thalia Papayannopoulou

Blood 2015 Jul 27;126(1):89-93. Epub 2015 May 27.

Division of Hematology, Department of Medicine, University of Washington, Seattle, WA.

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http://dx.doi.org/10.1182/blood-2015-04-638528	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4492199	PMC

July 2015

Five children with deletions of 1p34.3 encompassing AGO1 and AGO3.

Authors:

Mari J Tokita Penny M Chow Ghayda Mirzaa Nicola Dikow Bianca Maas Bertrand Isidor Cédric Le Caignec Lynette S Penney Giovanni Mazzotta Laura Bernardini Tiziana Filippi Agatino Battaglia Emilio Donti Dawn Earl Paolo Prontera

Eur J Hum Genet 2015 Jun 1;23(6):761-5. Epub 2014 Oct 1.

Medical Genetics Unit, Hospital Santa Maria della Misericordia, University of Perugia, Perugia, Italy.

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http://dx.doi.org/10.1038/ejhg.2014.202	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4795073	PMC

June 2015

A genetic-demographic approach reveals a gender-specific association of SLC6A3/DAT1 40 bp-VNTR with life-expectancy.

Authors:

Fazal Hadi Serena Dato Francesco M Carpi Paolo Prontera Francesca Crucianelli Federica Renda Giuseppe Passarino Valerio Napolioni

Biogerontology 2015 Jun 24;16(3):365-73. Epub 2015 Jan 24.

School of Biosciences and Biotechnologies, University of Camerino, Camerino, Italy.

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http://dx.doi.org/10.1007/s10522-015-9552-5	DOI Listing

June 2015

Characterization of 14 novel deletions underlying Rubinstein-Taybi syndrome: an update of the CREBBP deletion repertoire.

Hum Genet 2015 Jun 25;134(6):613-26. Epub 2015 Mar 25.

Medical Genetics, Department of Health Sciences, Università degli Studi di Milano, Via A. di Rudinì, 8, 20142, Milan, Italy.

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http://dx.doi.org/10.1007/s00439-015-1542-9	DOI Listing

June 2015

7q11.23 dosage-dependent dysregulation in human pluripotent stem cells affects transcriptional programs in disease-relevant lineages.

Nat Genet 2015 Feb 15;47(2):132-41. Epub 2014 Dec 15.

1] Department of Experimental Oncology, European Institute of Oncology (Istituto di Ricovero e Cura a Carattere Scientifico, IRCCS), Milan, Italy. [2] Department of Health Sciences, University of Milan, Milan, Italy.

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http://dx.doi.org/10.1038/ng.3169	DOI Listing

February 2015

Recurrent ∼100 Kb microdeletion in the chromosomal region 14q11.2, involving CHD8 gene, is associated with autism and macrocephaly.

Authors:

Paolo Prontera Valentina Ottaviani Daniela Toccaceli Daniela Rogaia Carmen Ardisia Rita Romani Gabriela Stangoni Angiolo Pierini Emilio Donti

Am J Med Genet A 2014 Dec 24;164A(12):3137-41. Epub 2014 Sep 24.

Centro di Riferimento Regionale di Genetica Medica, Azienda Ospedaliera-Universitaria di Perugia, Perugia, Italy.

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http://dx.doi.org/10.1002/ajmg.a.36741	DOI Listing

December 2014

Brief report: functional MRI of a patient with 7q11.23 duplication syndrome and autism spectrum disorder.

Authors:

Paolo Prontera Domenico Serino Bernardo Caldini Laura Scarponi Giuseppe Merla Giuseppe Testa Marco Muti Valerio Napolioni Giovanni Mazzotta Massimo Piccirilli Emilio Donti

J Autism Dev Disord 2014 Oct;44(10):2608-13

Medical Genetics Unit, Hospital "S. M. della Misericordia", University of Perugia, Via E. dal Pozzo, 06123, Perugia, Italy,

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http://link.springer.com/content/pdf/10.1007/s10803-014-2117	Web Search
http://link.springer.com/10.1007/s10803-014-2117-7	Publisher Site
http://dx.doi.org/10.1007/s10803-014-2117-7	DOI Listing

October 2014

DPP6 gene disruption in a family with Gilles de la Tourette syndrome.

Authors:

Paolo Prontera Valerio Napolioni Valentina Ottaviani Daniela Rogaia Carmela Fusco Bartolomeo Augello Domenico Serino Valentina Parisi Laura Bernardini Giuseppe Merla Andrea E Cavanna Emilio Donti

Neurogenetics 2014 Oct 17;15(4):237-42. Epub 2014 Aug 17.

Medical Genetics Unit, Department of Surgical and Biomedical Sciences, University of Perugia, Hospital "S. M. della Misericordia", Via E. dal Pozzo, 06123, Perugia, Italy,

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http://link.springer.com/10.1007/s10048-014-0418-9	Publisher Site
http://dx.doi.org/10.1007/s10048-014-0418-9	DOI Listing

October 2014

Hypothesis: gonadal temperature influences sex-specific imprinting.

Authors:

Paolo Prontera Emilio Donti

Front Genet 2014 25;5:294. Epub 2014 Aug 25.

Medical Genetics Unit, Department of Surgical and Biomedical Sciences, University of Perugia Perugia, Italy.

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http://dx.doi.org/10.3389/fgene.2014.00294	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4142806	PMC

September 2014

Shapiro's syndrome: Defining the clinical spectrum of the spontaneous paroxysmal hypothermia syndrome.

Authors:

Nicola Tambasco Vincenzo Belcastro Paolo Prontera Pasquale Nigro Emilio Donti Aroldo Rossi Paolo Calabresi

Eur J Paediatr Neurol 2014 Jul 15;18(4):453-7. Epub 2014 Feb 15.

Clinica Neurologica, Azienda Ospedaliero - Universitaria di Perugia, Italy; I.R.C.C.S., Fondazione S. Lucia, Roma, Italy.

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http://dx.doi.org/10.1016/j.ejpn.2014.02.001	DOI Listing

July 2014

Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients.

Hum Mutat 2014 Jul 9;35(7):841-50. Epub 2014 Apr 9.

Medical Genetics Unit, IRCCS Casa Sollievo Della Sofferenza Hospital, San Giovanni Rotondo, Italy.

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http://eprints.uniss.it/10824/1/Micale_L_Molecular_analysis_	Web Search
http://doi.wiley.com/10.1002/humu.22547	Publisher Site
http://dx.doi.org/10.1002/humu.22547	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4234006	PMC

July 2014

A novel ATP1A2 gene mutation in familial hemiplegic migraine and epilepsy.

Authors:

Cinzia Costa Paolo Prontera Paola Sarchielli Alessandra Tonelli Maria Teresa Bassi Letizia Maria Cupini Stefano Caproni Sabrina Siliquini Emilio Donti Paolo Calabresi

Cephalalgia 2014 Jan 5;34(1):68-72. Epub 2013 Aug 5.

Clinica Neurologica, Università di Perugia, Ospedale S. Maria della Misericordia, Italy.

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http://dx.doi.org/10.1177/0333102413498941	DOI Listing

January 2014

Absence of deletion and duplication of MLL2 and KDM6A genes in a large cohort of patients with Kabuki syndrome.

Authors:

Manuela Priolo Lucia Micale Bartolomeo Augello Carmela Fusco Federica Zucchetti Paolo Prontera Valeria Paduano Elisa Biamino Angelo Selicorni Corrado Mammì Carmelo Laganà Leopoldo Zelante Giuseppe Merla

Mol Genet Metab 2012 Nov 6;107(3):627-9. Epub 2012 Jul 6.

Unita' Operativa di Genetica Medica, Azienda Ospedaliera Bianchi-Melacrino-Morelli, Reggio Calabria, Italy.

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http://dx.doi.org/10.1016/j.ymgme.2012.06.019	DOI Listing

November 2012

Xq12-q13.3 duplication: evidence of a recurrent syndrome.

Authors:

Paolo Prontera Valentina Ottaviani Ilenia Isidori Gabriela Stangoni Emilio Donti

Ann Neurol 2012 Nov;72(5):821-2; author reply 822-3

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http://dx.doi.org/10.1002/ana.23754	DOI Listing

November 2012

Nablus mask-like facial syndrome: deletion of chromosome 8q22.1 is necessary but not sufficient to cause the phenotype.

Am J Med Genet A 2012 Sep 20;158A(9):2091-9. Epub 2012 Jul 20.

Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.

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http://dx.doi.org/10.1002/ajmg.a.35446	DOI Listing

September 2012

Acrofrontofacionasal dysostosis 1 in two sisters of Indian origin.

Authors:

Paolo Prontera Riccardo Urciuoli Sabrina Siliquini Sara Macone Gabriela Stangoni Emilio Donti Teresa Anna Cantisani Maurizio Elia Vincenzo Belcastro

Am J Med Genet A 2011 Dec 3;155A(12):3125-7. Epub 2011 Nov 3.

CRR Genetica Medica, Università ed Azienda Ospedaliera di Perugia, Perugia, Italy.

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http://dx.doi.org/10.1002/ajmg.a.34295	DOI Listing

December 2011

Cleft palate and ADULT phenotype in a patient with a novel TP63 mutation suggests lumping of EEC/LM/ADULT syndromes into a unique entity: ELA syndrome.

Authors:

Paolo Prontera Emanuela Garelli Ilenia Isidori Amedea Mencarelli Adriana Carando Margherita Cirillo Silengo Emilio Donti

Am J Med Genet A 2011 Nov 11;155A(11):2746-9. Epub 2011 Oct 11.

Medical Genetics Unit, Department of Clinical and Experimental Medicine, University of Perugia, Perugia, Italy.

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http://dx.doi.org/10.1002/ajmg.a.34270	DOI Listing

November 2011

Deletion 2p15-16.1 syndrome: case report and review.

Authors:

Paolo Prontera Laura Bernardini Gabriela Stangoni Anna Capalbo Daniela Rogaia Rita Romani Carmela Ardisia Bruno Dallapiccola Emilio Donti

Am J Med Genet A 2011 Oct 9;155A(10):2473-8. Epub 2011 Sep 9.

Sezione di Genetica Medica, Università e Azienda Ospedaliera di Perugia, Italy.

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http://dx.doi.org/10.1002/ajmg.a.33875	DOI Listing

October 2011

Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients.

Orphanet J Rare Dis 2011 Jun 9;6:38. Epub 2011 Jun 9.

Medical Genetics Unit, IRCCS Casa Sollievo della Sofferenza Hospital, 71013 San Giovanni Rotondo, Italy.

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http://dx.doi.org/10.1186/1750-1172-6-38	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3141365	PMC

June 2011

Craniometaphyseal dysplasia with severe craniofacial involvement shows homozygosity at 6q21-22.1 locus.

Authors:

Paolo Prontera Daniela Rogaia Cristina Sobacchi Vanessa Luiza Romanelli Tavares Giovanni Mazzotta Maria Rita Passos-Bueno Emilio Donti

Am J Med Genet A 2011 May 4;155A(5):1106-8. Epub 2011 Apr 4.

Sezione di Genetica Medica, Azienda Ospedaliera e Università di Perugia, Italy.

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http://dx.doi.org/10.1002/ajmg.a.33826	DOI Listing

May 2011

Trisomy 2 mosaicism with caudal dysgenesis, Hirschsprung disease, and micro-anophthalmia.

Authors:

Paolo Prontera Gabriela Stangoni Carmela Ardisia Daniela Rogaia Amedea Mencarelli Emilio Donti

Am J Med Genet A 2011 Apr 17;155A(4):928-30. Epub 2011 Mar 17.

Medical Genetics Unit, Department of Clinical and Experimental Medicine, University of Perugia and S. Maria della Misericordia Hospital, Perugia, Italy.

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