Giuseppe Zampino

Giuseppe Zampino

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Giuseppe Zampino

Giuseppe Zampino

Publications by authors named "Giuseppe Zampino"

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Defining language disorders in children and adolescents with Noonan Syndrome.

Mol Genet Genomic Med 2020 Feb 14:e1069. Epub 2020 Feb 14.

Department of Neuroscience, Child and Adolescent Psychiatric Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

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http://dx.doi.org/10.1002/mgg3.1069DOI Listing
February 2020

One case of anetoderma post-vitamin K injection in a newborn.

Int J Dermatol 2020 Jan 20. Epub 2020 Jan 20.

Institute of Dermatology, Catholic University and Fondazione Policlinico Universitario A. Gemelli IRCCS, Roma, Rome, Italy.

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http://dx.doi.org/10.1111/ijd.14779DOI Listing
January 2020

Phenotype evolution and health issues of adults with Beckwith-Wiedemann syndrome.

Am J Med Genet A 2019 Sep 24;179(9):1691-1702. Epub 2019 Jul 24.

Department of Public Health and Pediatrics, University of Torino, Torino, Italy.

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http://dx.doi.org/10.1002/ajmg.a.61301DOI Listing
September 2019

Old treatments for new genetic conditions: Sirolimus therapy in a child affected by mosaic overgrowth with fibroadipose hyperplasia.

Clin Genet 2019 Jul 22;96(1):102-103. Epub 2019 Apr 22.

Fondazione Policlinico Universitario A. Gemelli IRCCS, Center for Rare Diseases and Birth Defects, Department of Woman and Child Health, Rome, Italy.

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http://dx.doi.org/10.1111/cge.13550DOI Listing
July 2019

First evidence of a therapeutic effect of miransertib in a teenager with Proteus syndrome and ovarian carcinoma.

Am J Med Genet A 2019 07 6;179(7):1319-1324. Epub 2019 May 6.

Center for Rare Diseases and Birth Defects, Department of Woman and Child Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.

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http://dx.doi.org/10.1002/ajmg.a.61160DOI Listing
July 2019

Pain in individuals with RASopathies: Prevalence and clinical characterization in a sample of 80 affected patients.

Am J Med Genet A 2019 06 10;179(6):940-947. Epub 2019 Mar 10.

Department of Woman and Child Health, Center for Rare Diseases and Birth Defects, Institute of Pediatrics, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Università Cattolica del Sacro Cuore, Rome, Italy.

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http://dx.doi.org/10.1002/ajmg.a.61111DOI Listing
June 2019

Oligonephronia and Wolf-Hirschhorn syndrome: A further observation.

Am J Med Genet A 2018 02 28;176(2):409-414. Epub 2017 Nov 28.

Center for Rare Disease and Congenital Defects, Fondazione Policlinico Universitario A. Gemelli, Catholic University, Rome, Italy.

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http://dx.doi.org/10.1002/ajmg.a.38554DOI Listing
February 2018

Psychopathological features in Noonan syndrome.

Eur J Paediatr Neurol 2018 Jan 28;22(1):170-177. Epub 2017 Sep 28.

Department of Neuroscience, Unit of Child Neuropsychiatry, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

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http://dx.doi.org/10.1016/j.ejpn.2017.09.009DOI Listing
January 2018

Corneal alterations in Crisponi/CISS1 syndrome: A slit-lamp biomicroscopy and in vivo confocal microscopy corneal report.

Ophthalmic Genet 2017 Jan-Feb;38(1):83-87. Epub 2016 Apr 7.

a Ophthalmology Division , Catholic University of "Sacro Cuore ," Rome , Italy.

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http://dx.doi.org/10.3109/13816810.2015.1137326DOI Listing
November 2017

Quantitative approach to the posterior cranial fossa and craniocervical junction in asymptomatic children with achondroplasia.

Neuroradiology 2017 Oct 17;59(10):1031-1041. Epub 2017 Aug 17.

Polo scienze delle immagini, di laboratorio ed infettivologiche, Area diagnostica per immagini, Università Cattolica del Sacro Cuore, Fondazione Policlinico Universitario Agostino Gemelli, L.go F. Vito 1, 00168, Roma, Italia.

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http://dx.doi.org/10.1007/s00234-017-1887-yDOI Listing
October 2017

Recognizable facial features in patients with alternating hemiplegia of childhood.

Am J Med Genet A 2016 10 17;170(10):2698-705. Epub 2016 Jun 17.

Istituto di Medicina Genomica, Università Cattolica del S. Cuore Roma, Roma, Lazio, Italy.

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http://dx.doi.org/10.1002/ajmg.a.37808DOI Listing
October 2016

Differential Effects of HRAS Mutation on LTP-Like Activity Induced by Different Protocols of Repetitive Transcranial Magnetic Stimulation.

Brain Stimul 2016 Jan-Feb;9(1):33-8. Epub 2015 Sep 2.

Institute of Neurology, Campus Biomedico University, Rome, Italy; Fondazione Alberto Sordi - Research Institute for Ageing, Rome, Italy.

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http://dx.doi.org/10.1016/j.brs.2015.08.012DOI Listing
September 2016

Congenital immunodeficiency in an individual with Wiedemann-Steiner syndrome due to a novel missense mutation in KMT2A.

Am J Med Genet A 2016 09 20;170(9):2389-93. Epub 2016 Jun 20.

Genetic Disorders and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù IRCSS, Rome, Italy.

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http://dx.doi.org/10.1002/ajmg.a.37681DOI Listing
September 2016

Warmth and nociceptive evoked potentials in cold-induced sweating syndrome type 1.

Muscle Nerve 2016 06 26;54(1):100-3. Epub 2016 Feb 26.

Neurology Division, Pediatric Hospital "Bambino Gesù" IRCCS, Rome, Italy.

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http://dx.doi.org/10.1002/mus.24976DOI Listing
June 2016

Extensive irregular Mongolian blue spots as a clue for GM1 gangliosidosis type 1.

J Dtsch Dermatol Ges 2016 Mar 14;14(3):301-2. Epub 2016 Jan 14.

Institute of Pediatrics, Università Cattolica del Sacro Cuore, Rome, Italy.

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http://dx.doi.org/10.1111/ddg.12755DOI Listing
March 2016

Understanding Growth Failure in Costello Syndrome: Increased Resting Energy Expenditure.

J Pediatr 2016 Mar 9;170:322-4. Epub 2016 Jan 9.

Center for Rare Diseases, Department of Pediatrics, Catholic University, Rome, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.jpeds.2015.11.076DOI Listing
March 2016

Editorial: Care of adults with Down syndrome: Gaps and needs.

Eur J Intern Med 2015 Jul 6;26(6):375-6. Epub 2015 May 6.

Department of Geriatrics, Centro Medicina dell'Invecchiamento, Università Cattolica del Sacro Cuore, Rome, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.ejim.2015.04.018DOI Listing
July 2015

Behavioral profile in RASopathies.

Am J Med Genet A 2014 Apr 23;164A(4):934-42. Epub 2014 Jan 23.

Dipartimento di Neuroscienze, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

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http://dx.doi.org/10.1002/ajmg.a.36374DOI Listing
April 2014

Decreased bone mineral density in Costello syndrome.

Mol Genet Metab 2014 Jan 16;111(1):41-5. Epub 2013 Aug 16.

Center for Rare Diseases, Department of Pediatrics, Università Cattolica del Sacro Cuore, Rome, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2013.08.007DOI Listing
January 2014

Periodic sighs.

Sleep Med 2013 Nov 21;14(11):1224-5. Epub 2013 Aug 21.

Institute of Neurology, Catholic University, Rome, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.sleep.2013.04.028DOI Listing
November 2013

Pycnodysostosis with extreme sleep apnea: a possible alternative to tracheotomy.

Sleep Breath 2012 Mar 14;16(1):5-10. Epub 2011 Jan 14.

Department of Neurosciences, Catholic University, Policlinico Universitario A. Gemelli, Rome, Italy.

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http://dx.doi.org/10.1007/s11325-010-0479-4DOI Listing
March 2012

Management of children with thrombocytopenia-absent radius syndrome: an institutional experience.

J Paediatr Child Health 2012 Feb 19;48(2):166-9. Epub 2011 Jul 19.

Division of Paediatric Oncology, Department of Surgery, Catholic University of Rome, Rome, Italy.

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http://dx.doi.org/10.1111/j.1440-1754.2011.02069.xDOI Listing
February 2012

Visual processing in Noonan syndrome: dorsal and ventral stream sensitivity.

Am J Med Genet A 2011 Oct 9;155A(10):2459-64. Epub 2011 Sep 9.

Child Neuropsychiatry Unit, Department of Neuroscience, Bambino Gesù, Children's Hospital, Rome, Italy.

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http://dx.doi.org/10.1002/ajmg.a.34229DOI Listing
October 2011

Ocular manifestations in Wolf-Hirschhorn syndrome.

J AAPOS 2009 Jun;13(3):264-7

Ophtalmology Institute, Catholic University of Rome, Rome, Italy.

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http://dx.doi.org/10.1016/j.jaapos.2009.02.011DOI Listing
June 2009

New cases of Bohring-Opitz syndrome, update, and critical review of the literature.

Am J Med Genet A 2006 Jun;140(12):1257-63

Institut für Humangenetik, Westfälische Wilhelms-Universität, Münster, Germany.

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http://dx.doi.org/10.1002/ajmg.a.31265DOI Listing
June 2006

Obstructive sleep apnea in Costello syndrome.

Am J Med Genet A 2006 Feb;140(3):257-62

Department of Neuroscience, Catholic University, Rome, Italy.

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http://dx.doi.org/10.1002/ajmg.a.31076DOI Listing
February 2006

Isolated myocardial non-compaction in an infant with distal 4q trisomy and distal 1q monosomy.

Eur J Pediatr 2005 Apr 22;164(4):255-6. Epub 2005 Jan 22.

Department of Paediatric Cardiology, Institute of Paediatrics, Catholic University of the Sacred Heart, Largo Agostino Gemelli 8, 00168 Rome, Italy.

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http://dx.doi.org/10.1007/s00431-005-1620-4DOI Listing
April 2005

Functional assessment of A delta and C fibers in patients with Fabry's disease.

Muscle Nerve 2004 Dec;30(6):708-13

Divisione di Neurologia, Ospedale Pediatrico Bambino Gesù, Istituto di Ricovero e Cura a Carattere Scientifico, Piazza Sant'Onofrio 4, 00165 Rome, Italy.

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http://dx.doi.org/10.1002/mus.20174DOI Listing
December 2004

The tongue-base suspension using Repose bone screw system in a child with Simpson-Golabi-Behmel syndrome. Case report.

Int J Pediatr Otorhinolaryngol 2003 Oct;67(10):1143-7

Institute of Otolaryngology, Catholic University of the Sacred Heart, Largo A. Gemelli 8, 00168 Rome, Italy.

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http://dx.doi.org/10.1016/s0165-5876(03)00220-9DOI Listing
October 2003

Electroclinical patterns and evolution of epilepsy in the 4p- syndrome.

Epilepsia 2003 Sep;44(9):1183-90

Child Neurology and Psychiatry Medical Genetics Institute of Pediatrics, Catholic University, School of Medicine, Rome, Italy.

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http://dx.doi.org/10.1046/j.1528-1157.2003.63502.xDOI Listing
September 2003