Giovanni Battista Ferrero

Giovanni Battista Ferrero

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Giovanni Battista Ferrero

Giovanni Battista Ferrero

Publications by authors named "Giovanni Battista Ferrero"

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67Publications

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The effectiveness of Wilms tumor screening in Beckwith-Wiedemann spectrum.

J Cancer Res Clin Oncol 2019 Oct 4. Epub 2019 Oct 4.

Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, USA.

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http://dx.doi.org/10.1007/s00432-019-03038-3DOI Listing
October 2019

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

Esophageal duplication cyst in newborn.

Pediatr Neonatol 2019 Sep 5. Epub 2019 Sep 5.

Department of Pediatric General Surgery, Regina Margherita Children's Hospital, AOU Città della Salute e della Scienza, Turin, Italy.

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http://dx.doi.org/10.1016/j.pedneo.2019.08.007DOI Listing
September 2019

Beckwith-Wiedemann Syndrome Negligible Effects on Tumor Risk Associated With In Vitro Fertilization.

JAMA Pediatr 2019 Aug 12. Epub 2019 Aug 12.

Regina Margherita Children Hospital, Department of Public Health and Pediatric Sciences, University of Torino, Torino, Italy.

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http://dx.doi.org/10.1001/jamapediatrics.2019.2355DOI Listing
August 2019

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.

Nat Commun 2019 07 12;10(1):3094. Epub 2019 Jul 12.

Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.

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http://dx.doi.org/10.1038/s41467-019-10910-wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6626132PMC
July 2019

Syndromic Disorders Caused by Disturbed Human Imprinting

J Clin Res Pediatr Endocrinol 2019 Apr 10. Epub 2019 Apr 10.

Department of Pediatric and Public Health Sciences, University of Torino, Piazza Polonia 94, 10126, Torino, Italy

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http://dx.doi.org/10.4274/jcrpe.galenos.2019.2018.0249DOI Listing
April 2019

Defining an optimal time window to screen for hepatoblastoma in children with Beckwith-Wiedemann syndrome.

Pediatr Blood Cancer 2019 01 30;66(1):e27492. Epub 2018 Sep 30.

Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

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http://dx.doi.org/10.1002/pbc.27492DOI Listing
January 2019

Assisted reproduction techniques and prenatal diagnosis of Beckwith-Wiedemann spectrum presenting with omphalocele.

J Assist Reprod Genet 2018 10 8;35(10):1925-1926. Epub 2018 Aug 8.

Department of Pediatric and Public Health Sciences, University of Torino, Piazza Polonia 94, 10126, Turin, Italy.

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http://dx.doi.org/10.1007/s10815-018-1288-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6150903PMC
October 2018

Functional evaluation of natural killer cell cytotoxic activity in NFKB2-mutated patients.

Immunol Lett 2018 02 24;194:40-43. Epub 2017 Dec 24.

University of Torino, Department of Public Health and Pediatrics, Piazza Polonia 94, Turin, 10126, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.imlet.2017.12.006DOI Listing
February 2018

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

Assisted Reproductive Techniques and Risk of Beckwith-Wiedemann Syndrome.

Pediatrics 2017 Jul 20;140(1). Epub 2017 Jun 20.

Department of Public Health and Pediatric Sciences, University of Torino, Torino, Italy;

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http://dx.doi.org/10.1542/peds.2016-4311DOI Listing
July 2017

Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes.

Eur J Paediatr Neurol 2017 May 19;21(3):475-484. Epub 2016 Dec 19.

University of Torino, Department of Medical Sciences, 10126, Turin, Italy; Città della Salute e della Scienza University Hospital, Medical Genetics Unit, Turin, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2016.12.005DOI Listing
May 2017

Constitutional bone impairment in Noonan syndrome.

Am J Med Genet A 2017 Mar;173(3):692-698

Department of Pediatric and Public Health Sciences, University of Turin, Turin, Italy.

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http://dx.doi.org/10.1002/ajmg.a.38086DOI Listing
March 2017

Serum alpha-fetoprotein screening for hepatoblastoma in Beckwith-Wiedemann syndrome.

Am J Med Genet A 2017 03;173(3):585-587

Department of Public Health and Pediatric Sciences, University of Torino, Torino, Italy.

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http://dx.doi.org/10.1002/ajmg.a.38077DOI Listing
March 2017

PI3K Signaling in Tissue Hyper-Proliferation: From Overgrowth Syndromes to Kidney Cysts.

Cancers (Basel) 2017 Mar 29;9(4). Epub 2017 Mar 29.

Department of Molecular Biotechnology and Health Sciences, University of Torino, Torino 10126, Italy.

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http://dx.doi.org/10.3390/cancers9040030DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5406705PMC
March 2017

Screening Hepatoblastoma in Beckwith-Wiedemann Syndrome: A Complex Issue.

J Pediatr Hematol Oncol 2015 Nov;37(8):627

Department of Public Health and Pediatric Sciences, University of Torino, Torino, Italy.

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http://dx.doi.org/10.1097/MPH.0000000000000408DOI Listing
November 2015

Periventricular nodular heterotopia in Smith-Magenis syndrome.

Am J Med Genet A 2014 Dec 24;164A(12):3142-7. Epub 2014 Sep 24.

Neurosurgery Unit, Istituto Giannina Gaslini, 16147 Genova, Genoa, Italy.

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http://dx.doi.org/10.1002/ajmg.a.36742DOI Listing
December 2014

Phenotypic variability associated with the invariant SHOC2 c.4A>G (p.Ser2Gly) missense mutation.

Am J Med Genet A 2014 Dec 20;164A(12):3120-5. Epub 2014 Oct 20.

Department of Paediatrics, University of Torino, Torino, Italy.

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http://dx.doi.org/10.1002/ajmg.a.36697DOI Listing
December 2014

Thyroid involvement in two patients with Bannayan-Riley-Ruvalcaba syndrome.

J Clin Res Pediatr Endocrinol 2013 ;5(4):261-5

University of Torino, Regina Margherita Children Hospital, Department of Pediatrics, Torino, Italy. E-mail:

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http://dx.doi.org/10.4274/Jcrpe.984DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3890226PMC
September 2014

Comment on "prenatal diagnosis and prognosis in Noonan syndrome".

Prenat Diagn 2013 Dec;33(13):1318-20

Department of Pediatrics, University of Torino, Torino, Italy.

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http://dx.doi.org/10.1002/pd.4234DOI Listing
December 2013

Progressive extreme heterotopic calcification.

Am J Med Genet A 2013 Jul 17;161A(7):1706-13. Epub 2013 May 17.

Dipartimento di Scienze della Sanità Pubblica e Pediatriche, Università di Torino, Torino, Italy.

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http://dx.doi.org/10.1002/ajmg.a.35944DOI Listing
July 2013

Neonatal hepatoblastoma in a newborn with severe phenotype of Beckwith-Wiedemann syndrome.

Eur J Pediatr 2011 Nov 30;170(11):1407-11. Epub 2011 Mar 30.

Department of Pediatrics, University of Torino, Piazza Polonia 94, 10126 Turin, Italy.

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http://dx.doi.org/10.1007/s00431-011-1455-0DOI Listing
November 2011

The overlap between Sotos and Beckwith-Wiedemann syndromes.

J Pediatr 2010 Jun 14;156(6):1035-1036. Epub 2010 Apr 14.

Department of Pediatrics, University of Torino, Torino, Italy.

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https://linkinghub.elsevier.com/retrieve/pii/S00223476100020
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http://dx.doi.org/10.1016/j.jpeds.2010.02.063DOI Listing
June 2010

Remittent hyperammonemia in congenital portosystemic shunt.

Eur J Pediatr 2010 Mar 18;169(3):369-72. Epub 2009 Jul 18.

Department of Pediatrics, University of Torino, Piazza Polonia 94, 10126 Torino, Italy.

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http://dx.doi.org/10.1007/s00431-009-1031-zDOI Listing
March 2010

Clinical and molecular characterization of 40 patients with Noonan syndrome.

Eur J Med Genet 2008 Nov-Dec;51(6):566-72. Epub 2008 Jul 17.

Department of Pediatrics, University of Torino, Torino, Italy.

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http://dx.doi.org/10.1016/j.ejmg.2008.06.011DOI Listing
March 2009

Case 1: An infant with heart failure (case presentation).

Acta Paediatr 2009 Jan;98(1):5-6, 199-201

Department of Pediatrics, University of Torino, Turin, Italy.

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http://doi.wiley.com/10.1111/j.1651-2227.2008.01012.x
Publisher Site
http://dx.doi.org/10.1111/j.1651-2227.2008.01012.xDOI Listing
January 2009

Presenting phenotype and clinical evaluation in a cohort of 22 Williams-Beuren syndrome patients.

Eur J Med Genet 2007 Sep-Oct;50(5):327-37. Epub 2007 Jun 6.

Department of Pediatrics, University of Torino, Piazza Polonia, 94, 10126 Torino, Italy.

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http://dx.doi.org/10.1016/j.ejmg.2007.05.005DOI Listing
November 2007

Integrated strategy for fast and automated molecular characterization of genes involved in craniosynostosis.

Clin Chem 2007 Oct 10;53(10):1767-74. Epub 2007 Aug 10.

Genomic Unit for the Diagnosis of Human Pathologies, San Raffaele Scientific Institute, Milan, Italy.

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http://dx.doi.org/10.1373/clinchem.2007.089292DOI Listing
October 2007

Microdeletions in the human H19 DMR result in loss of IGF2 imprinting and Beckwith-Wiedemann syndrome.

Nat Genet 2004 Sep 15;36(9):958-60. Epub 2004 Aug 15.

Dipartimento di Scienze Ambientali, Seconda Università di Napoli, via Vivaldi 43, 81100 Caserta, Italy.

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http://www.nature.com/articles/ng1410
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http://dx.doi.org/10.1038/ng1410DOI Listing
September 2004

Malformations following methimazole exposure in utero: an open issue.

Birth Defects Res A Clin Mol Teratol 2003 Dec;67(12):989-92

Dipartimento di Scienze Pediatriche, Università di Torino, Turin, Italy.

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http://dx.doi.org/10.1002/bdra.10098DOI Listing
December 2003

Oral, facial, digital, vertebral anomalies with psychomotor delay: a mild form of OFD type Gabrielli?

Am J Med Genet 2002 Dec;113(3):291-4

Department of Pediatrics, University of Torino, Piazza Polonia 94, 10126 Turin, Italy.

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http://dx.doi.org/10.1002/ajmg.10815DOI Listing
December 2002

Mental retardation, peculiar facial dysmorphism and HbH inclusions in a 4-year-old boy.

Eur J Pediatr 2002 Nov;161(11):627-8

Department of Paediatrics, University of Turin, Italy.

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http://dx.doi.org/10.1007/s00431-002-1049-yDOI Listing
November 2002