Andrea Bartuli

Andrea Bartuli

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Andrea Bartuli

Andrea Bartuli

Publications by authors named "Andrea Bartuli"

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43Publications

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Poland Syndrome with Atypical Malformations Associated to a de novo 1.5 Mb Xp22.31 Duplication.

Neuropediatrics 2020 Feb 3. Epub 2020 Feb 3.

Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry, University of Catania, Catania, CT, Italy.

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http://dx.doi.org/10.1055/s-0039-3402009DOI Listing
February 2020

Dissecting the mechanisms of bone loss in Gorham-Stout disease.

Bone 2020 Jan 13;130:115068. Epub 2019 Sep 13.

Bone Physiopathology Group, Multifactorial Disease and Complex Phenotype Research Area, Bambino Gesù Children's Hospital, Rome, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.bone.2019.115068DOI Listing
January 2020

Bartonella henselae in Italy: a rare seasonal infection.

Minerva Pediatr 2019 Oct 23;71(5):415-419. Epub 2016 Mar 23.

Bambino Gesù Children's Hospital, Rome, Italy.

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http://dx.doi.org/10.23736/S0026-4946.16.04414-5DOI Listing
October 2019

Statins in children: A monocentric experience.

J Clin Lipidol 2018 Sep - Oct;12(5):1326-1327. Epub 2018 Jun 26.

Rare Diseases and Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

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http://dx.doi.org/10.1016/j.jacl.2018.06.009DOI Listing
September 2019

Expanding the clinical spectrum associated with PACS2 mutations.

Clin Genet 2019 04 28;95(4):525-531. Epub 2019 Feb 28.

Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome, Italy.

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http://dx.doi.org/10.1111/cge.13516DOI Listing
April 2019

Incidental finding of severe hypertriglyceridemia in children. Role of multiple rare variants in genes affecting plasma triglyceride.

J Clin Lipidol 2017 Nov - Dec;11(6):1329-1337.e3. Epub 2017 Sep 4.

Department of Biomedical, Metabolic and Neural Sciences, University of Modena & Reggio Emilia, Modena, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.jacl.2017.08.017DOI Listing
July 2018

Treatment of homozygous familial hypercholesterolaemia in paediatric patients: A monocentric experience.

Eur J Prev Cardiol 2018 07 22;25(10):1098-1105. Epub 2018 May 22.

1 Rare Diseases and Medical Genetics, Bambino Gesù Children's Hospital Rome, Italy.

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http://dx.doi.org/10.1177/2047487318776836DOI Listing
July 2018

Statin-associated myopathy in pediatric settings: Myth or fact?

J Pediatr 2017 12 28;191:279. Epub 2017 Sep 28.

Rare Diseases and Medical Genetics Unit Bambino Gesù Children's Hospital Rome, Italy.

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http://dx.doi.org/10.1016/j.jpeds.2017.08.056DOI Listing
December 2017

Intersociety policy statement on the use of whole-exome sequencing in the critically ill newborn infant.

Ital J Pediatr 2017 Nov 3;43(1):100. Epub 2017 Nov 3.

Operative Unit of Pediatrics and Neonatal Intensive Therapy, Mother and Child Department, University of Palermo, Palermo, Italy.

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http://dx.doi.org/10.1186/s13052-017-0418-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5670717PMC
November 2017

Nonalcoholic Fatty Liver Disease in Italian Children with Down Syndrome: Prevalence and Correlation with Obesity-Related Features.

J Pediatr 2017 10 26;189:92-97.e1. Epub 2017 Jun 26.

Pediatric and Infectious Disease Unit, Bambino Gesù Children's Hospital, Institute for Research and Health Care (IRCCS), Rome, Italy.

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http://dx.doi.org/10.1016/j.jpeds.2017.05.077DOI Listing
October 2017

Growth hormone excess in children with neurofibromatosis type-1 and optic glioma.

Am J Med Genet A 2017 Sep 20;173(9):2353-2358. Epub 2017 Jun 20.

Rare Diseases and Medical Genetics Unit, Bambino Gesù Children Hospital, IRCCS, Rome, Italy.

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http://dx.doi.org/10.1002/ajmg.a.38308DOI Listing
September 2017

Eruptive Xanthomas in Lipoprotein Lipase Deficiency.

J Pediatr 2017 08 18;187:330. Epub 2017 May 18.

Rare Disease and Medical Genetics Unit Bambino Gesù Children's Hospital Istituto di Ricovero e Cura a Carattere Scientifico Rome, Italy.

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http://dx.doi.org/10.1016/j.jpeds.2017.04.032DOI Listing
August 2017

Lipid profiles in a large cohort of Italian children with Down syndrome.

Eur J Med Genet 2016 Aug 23;59(8):392-5. Epub 2016 Jun 23.

Pediatric and Infectious Disease Unit, Bambino Gesù Children's Hospital, Rome, Italy.

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http://dx.doi.org/10.1016/j.ejmg.2016.06.005DOI Listing
August 2016

Pertussis in infants: an underestimated disease.

BMC Infect Dis 2016 08 15;16(1):414. Epub 2016 Aug 15.

General Pediatric and Infectious Diseases Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

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http://bmcinfectdis.biomedcentral.com/articles/10.1186/s1287
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http://dx.doi.org/10.1186/s12879-016-1710-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4986228PMC
August 2016

Novel plasminogen and hyaluronate sodium eye drop formulation for a patient with ligneous conjunctivitis.

Am J Health Syst Pharm 2016 Apr;73(8):556-61

Healthcare Department, Research Institute, Bambino Gesú Children's Hospital, Rome, Italy.

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http://dx.doi.org/10.2146/ajhp150395DOI Listing
April 2016

A 3-day-old neonate with severe hypertriglyceridemia from novel mutations of the GPIHBP1 gene.

J Clin Lipidol 2015 Mar-Apr;9(2):265-70. Epub 2014 Oct 13.

Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Modena, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.jacl.2014.10.003DOI Listing
January 2016

Borderline cognitive level in a family with Bazex-Dupré-Christol syndrome.

Am J Med Genet A 2015 Jul 28;167(7):1637-43. Epub 2015 Mar 28.

Department of Pediatric Medicine, Rare Diseases and Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

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http://dx.doi.org/10.1002/ajmg.a.37041DOI Listing
July 2015

Short-term survival of hyperammonemic neonates treated with dialysis.

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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http://dx.doi.org/10.1007/s00467-014-2945-xDOI Listing
May 2015

Reduced numbers of switched memory B cells with high terminal differentiation potential in Down syndrome.

Eur J Immunol 2015 Mar 28;45(3):903-14. Epub 2014 Dec 28.

Immunology Unit, Immunology and Pharmacotherapy Area, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy; Diagnostic Immunology Unit, Department of Laboratories, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

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http://dx.doi.org/10.1002/eji.201445049DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4674966PMC
March 2015

Atherogenic dyslipidemia and cardiovascular risk factors in obese children.

Int J Endocrinol 2015 12;2015:912047. Epub 2015 Jan 12.

Hepatometabolic Diseases Unit, Bambino Gesù Hospital, Piazza S. Onofrio 4, 00135 Rome, Italy.

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http://dx.doi.org/10.1155/2015/912047DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4309297PMC
February 2015

Erythropoietic protoporphyria in a boy.

Arch Dis Child 2015 Jan 12;100(1). Epub 2014 Nov 12.

Rare Diseases and Medical Genetics Unit, "Bambino Gesù" Children's Hospital, Rome, Italy.

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http://dx.doi.org/10.1136/archdischild-2014-307082DOI Listing
January 2015

Question 2: Should steroids be used in the treatment of septic arthritis?

Arch Dis Child 2014 Aug 25;99(8):785-7. Epub 2014 Apr 25.

Rare Disease Unit, Pediatrics Medicine Department, Bambino Gesù Childrens Hospital, Rome, Italy.

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http://dx.doi.org/10.1136/archdischild-2013-305617DOI Listing
August 2014

Long-term follow-up in Stuve-Wiedemann syndrome: a case report with articular involvement.

Clin Dysmorphol 2014 Apr;23(2):45-6

aRare Diseases and Medical Genetic Unit bDPUO Endocrinologic Unit cGeneral Pediatrics and Infectious Diseases, Bambino Gesù Children's Hospital, Rome, Italy.

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https://insights.ovid.com/crossref?an=00019605-201404000-000
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http://dx.doi.org/10.1097/MCD.0000000000000023DOI Listing
April 2014

Persistent neck pain in a girl: Klippel-Feil syndrome.

Arch Dis Child 2014 Mar 28;99(3):290-1. Epub 2013 Nov 28.

Rare Diseases and Medical Genetics, Department of Pediatrics, Bambino Gesù Children's Hospital, , Rome, Italy.

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http://dx.doi.org/10.1136/archdischild-2013-305203DOI Listing
March 2014

Corneal arcus as first sign of familial hypercholesterolemia.

J Pediatr 2014 Mar 4;164(3):670. Epub 2013 Dec 4.

Rare Diseases and Medical Genetics, Bambino Gesù Children's Hospital, Rome, Italy.

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http://dx.doi.org/10.1016/j.jpeds.2013.10.045DOI Listing
March 2014

Lethal Netherton syndrome due to homozygous p.Arg371X mutation in SPINK5.

Pediatr Dermatol 2013 Jul-Aug;30(4):e65-7. Epub 2013 Jan 17.

Dermatology Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

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http://dx.doi.org/10.1111/pde.12076DOI Listing
February 2014

Description of a novel TUBA1A mutation in Arg-390 associated with asymmetrical polymicrogyria and mid-hindbrain dysgenesis.

Eur J Paediatr Neurol 2013 Jul 11;17(4):361-5. Epub 2013 Jan 11.

Unit of Neuromuscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesù Children's Hospital, IRCCS, Piazza S. Onofrio, 400165 Rome, Italy.

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http://dx.doi.org/10.1016/j.ejpn.2012.12.006DOI Listing
July 2013

Acute rheumatic fever with chorea.

Arch Dis Child 2013 Mar 24;98(3):203. Epub 2012 Nov 24.

Rare Diseases and Medical Genetics Unit, Department of Pediatric Medicine, Bambino Gesù Children's Hospital, Piazza S. Onofrio, 4, Rome 00135, Italy.

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http://adc.bmj.com/cgi/doi/10.1136/archdischild-2012-302732
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http://dx.doi.org/10.1136/archdischild-2012-302732DOI Listing
March 2013

An unusual presentation of tuberous sclerosis.

Arch Dis Child 2013 Mar 12;98(3):214-5. Epub 2013 Jan 12.

Rare Disease and Medical Genetic Unit, Bambino Gesù Children’s Hospital, Rome, Italy.

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http://dx.doi.org/10.1136/archdischild-2012-302885DOI Listing
March 2013

I148M patatin-like phospholipase domain-containing 3 gene variant and severity of pediatric nonalcoholic fatty liver disease.

Hepatology 2010 Oct;52(4):1274-80

Department of Internal Medicine, Università degli Studi, Ospedale Maggiore Policlinico (Ca' Granda) Istituto di Ricovero e Cura a Carattere Scientifico, Milan, Italy.

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http://dx.doi.org/10.1002/hep.23823DOI Listing
October 2010

Medical management and dialysis therapy for the infant with an inborn error of metabolism.

Semin Nephrol 2008 Sep;28(5):477-80

Department of Nephrology and Urology, Dialysis Unit, Bambino Gesù Children's Research Hospital, Rome, Italy.

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http://dx.doi.org/10.1016/j.semnephrol.2008.05.007DOI Listing
September 2008

Infantile epileptic syndromes and metabolic etiologies.

J Child Neurol 2002 Dec;17 Suppl 3:3S9-13; discussion 3S14

Division of Neurology, Bambino Gesù Children's Hospital, Rome, Italy.

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December 2002