Publications by authors named "Maria Cristina Schiaffino"

14Publications

Long-term clinical outcome of 6-pyruvoyl-tetrahydropterin synthase-deficient patients.

Authors:

Filippo Manti Francesca Nardecchia Giuseppe Banderali Alberto Burlina Carla Carducci Claudia Carducci Maria Alice Donati Daniela Gueraldi Sabrina Paci Francesca Pochiero Francesco Porta Rita Ortolano Valentina Rovelli Maria Cristina Schiaffino Marco Spada Nenad Blau Vincenzo Leuzzi

Mol Genet Metab 2020 Sep - Oct;131(1-2):155-162. Epub 2020 Jun 24.

Department of Human Neuroscience, Unit of Child Neurology and Psychiatry, Sapienza University, Rome, Italy. Electronic address:

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June 2020

A mild impairment of KATP channel function caused by two different ABCC8 defects in an Italian newborn.

Authors:

Giulia Romanisio Alessandro Salina Concetta Aloi Maria Cristina Schiaffino Alfredo Virgone Giuseppe d'Annunzio

Acta Diabetol 2018 Feb 19;55(2):201-203. Epub 2017 Sep 19.

Pediatric Clinic, Regional Center for Pediatric Diabetes, Istituto Giannina Gaslini, Via Gaslini 5, 16147, Genoa, Italy.

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February 2018

Combined early treatment in hemiplegic attacks related to CACNA1A encephalopathy with brain oedema: Blocking the cascade?

Authors:

Francesca Camia Livia Pisciotta Giovanni Morana Maria Cristina Schiaffino Salvatore Renna Paola Carrera Maurizio Ferrari Maria Giuseppina Baglietto Edvige Veneselli Laura Siri Maria Margherita Mancardi

Cephalalgia 2017 Oct 19;37(12):1202-1206. Epub 2016 Sep 19.

1 Unit of Child Neuropsychiatry, Head-Neck and Neuroscience Department, Giannina Gaslini Institute, Genoa, Italy.

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October 2017

Long-term outcome and need of re-operation in gastro-esophageal reflux surgery in children.

Authors:

Valentina Rossi Cinzia Mazzola Lorenzo Leonelli Paolo Gandullia Serena Arrigo Marina Pedemonte Maria Cristina Schiaffino Margherita Mancardi Oliviero Sacco Nicola Massimo Disma Clelia Zanaboni Giovanni Montobbio Arrigo Barabino Girolamo Mattioli

Pediatr Surg Int 2016 Mar 28;32(3):277-83. Epub 2015 Dec 28.

DINOGMI, University of Genoa, Genoa, Italy.

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March 2016

New insights into central nervous system involvement in FOP: Case report and review of the literature.

Authors:

Marta Bertamino Mariasavina Severino Maria Cristina Schiaffino Maria Luisa Garrè Renata Bocciardi Roberto Ravazzolo Andrea Rossi Maja Di Rocco

Am J Med Genet A 2015 Nov 4;167A(11):2817-21. Epub 2015 Aug 4.

Giannina Gaslini Institute, Rare Diseases, Pediatric, Genoa, Italy.

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November 2015

Interstitial 7q31.1 copy number variations disrupting IMMP2L gene are associated with a wide spectrum of neurodevelopmental disorders.

Authors:

Stefania Gimelli Valeria Capra Maja Di Rocco Massimiliano Leoni Marisol Mirabelli-Badenier Maria Cristina Schiaffino Patrizia Fiorio Cristina Cuoco Giorgio Gimelli Elisa Tassano

Mol Cytogenet 2014 13;7:54. Epub 2014 Aug 13.

Laboratorio di Citogenetica, Istituto G. Gaslini, G.Gaslini 5, Genoa, 16147, Italy.

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December 2014

Short-term survival of hyperammonemic neonates treated with dialysis.

Authors:

Stefano Picca Carlo Dionisi-Vici Andrea Bartuli Tommaso De Palo Francesco Papadia Giovanni Montini Marco Materassi Maria Alice Donati Enrico Verrina Maria Cristina Schiaffino Carmine Pecoraro Emilia Iaccarino Enrico Vidal Alberto Burlina Francesco Emma

Pediatr Nephrol 2015 May 4;30(5):839-47. Epub 2014 Sep 4.

Nephrology and Dialysis Unit, Department of Nephrology-Urology, "Bambino Gesù" Children's Hospital-IRCCS, Rome, Italy,

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May 2015

SMAD4 mutations causing Myhre syndrome result in disorganization of extracellular matrix improved by losartan.

Authors:

Pasquale Piccolo Pratibha Mithbaokar Valeria Sabatino John Tolmie Daniela Melis Maria Cristina Schiaffino Mirella Filocamo Generoso Andria Nicola Brunetti-Pierri

Eur J Hum Genet 2014 Aug 8;22(8):988-94. Epub 2014 Jan 8.

1] Telethon Institute of Genetics and Medicine, Naples, Italy [2] Department of Translational Medicine, Federico II University of Naples, Naples, Italy.

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August 2014

A new SPINK5 mutation in a patient with Netherton syndrome: a case report.

Authors:

Maria G Alpigiani Pietro Salvati Maria Cristina Schiaffino Corrado Occella Daniela Castiglia Claudia Covaciu Renata Lorini

Pediatr Dermatol 2012 Jul-Aug;29(4):521-2. Epub 2011 Jun 22.

Department of Pediatrics, Institute Giannina Gaslini IRCCS, Genoa, Italy.

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November 2012

Laparoscopic proximal Roux-en-Y gastrojejunal diversion in children: preliminary experience from a single center.

Authors:

Girolamo Mattioli Piero Buffa Paolo Gandullia Maria Cristina Schiaffino Stefano Avanzini Giovanni Rapuzzi Alessio Pini Prato Edoardo Guida Sara Costanzo Valentina Rossi Angelina Basile Giovanni Montobbio Mirta DellaRocca Leila Mameli Nicola Disma Alice Pessagno Paolo Tomà Vincenzo Jasonni

J Laparoendosc Adv Surg Tech A 2009 Dec;19(6):807-13

Department of Pediatric Surgery, Gaslini Research Institute and Children's Hospital, Genoa, Italy.

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December 2009

Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type.

Mol Genet Metab 2008 Apr 27;93(4):475-80. Epub 2007 Dec 27.

Genetics Medical Center, INSA, Oporto, Portugal.

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April 2008

Severe epilepsy in X-linked creatine transporter defect (CRTR-D).

Authors:

Maria Margherita Mancardi Ubaldo Caruso Maria Cristina Schiaffino Maria Giuseppina Baglietto Andrea Rossi Francesca Maria Battaglia Gajja Sophi Salomons Cornelis Jakobs Federico Zara Edvige Veneselli Roberto Gaggero

Epilepsia 2007 Jun;48(6):1211-3

Department of Child Neuropsychiatry, Epilepsy Unit, G. Gaslini Institute, Genoa, Italy.

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June 2007

Severe lactic acidosis due to thiamine deficiency in a patient with B-cell leukemia/lymphoma on total parenteral nutrition during high-dose methotrexate therapy.

Authors:

Johanna Svahn Maria Cristina Schiaffino Ubaldo Caruso Michaela Calvillo Giuseppe Minniti Carlo Dufour

J Pediatr Hematol Oncol 2003 Dec;25(12):965-8

Department of Pediatric Hematology/Oncology, G. Gaslini Children's Hospital, Genova, Italy.

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December 2003

Early-onset cobalamin C/D deficiency: epilepsy and electroencephalographic features.

Authors:

Roberta Biancheri Roberto Cerone Andrea Rossi Maria Cristina Schiaffino Ubaldo Caruso Giuseppe Minniti Maria Viviana Perrone Paolo Tortori-Donati Edvige Veneselli

Epilepsia 2002 Jun;43(6):616-22

III Division of Paediatrics, G. Gaslini Institute, Genova, Italy.

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June 2002