Margherita Silengo

Margherita Silengo

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Margherita Silengo

Margherita Silengo

Publications by authors named "Margherita Silengo"

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64Publications

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Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care.

Genet Med 2018 Jan 4. Epub 2018 Jan 4.

Clinical Genetics Unit, Department of Obstetrics and Pediatrics, AUSL-IRCCS of Reggio Emilia, Reggio Emilia, Italy.

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January 2018

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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December 2014

Severe growth hormone deficiency and pituitary malformation in a patient with chromosome 2p25 duplication and 2q37 deletion.

Mol Cytogenet 2014 19;7:41. Epub 2014 Jun 19.

Department of Internal Medicine and Therapeutics, Pediatric and Adolescent Unit, University of Pavia, Fondazione IRCCS San Matteo, Pavia, Italy.

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June 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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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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July 2013

3-M syndrome associated with growth hormone deficiency: 18 year follow-up of a patient.

Ital J Pediatr 2013 Mar 21;39:21. Epub 2013 Mar 21.

Department of Internal Medicine and Therapeutics, University of Pavia, Fondazione IRCCS Policlinico San Matteo, Piazzale C, Golgi 2, Pavia 27100, Italy.

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March 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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November 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.

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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November 2011

Relative burden of large CNVs on a range of neurodevelopmental phenotypes.

PLoS Genet 2011 Nov 10;7(11):e1002334. Epub 2011 Nov 10.

Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington, United States of America.

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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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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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March 2010

Four new cases of PHACES syndrome: variable phenotypic expression and endocrine features.

Acta Paediatr 2008 Dec 15;97(12):1729-33. Epub 2008 Sep 15.

Department of Paediatrics, Division of Paediatric Endocrinology, University of Torino, Italy.

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December 2008

Distinct methylation changes at the IGF2-H19 locus in congenital growth disorders and cancer.

PLoS One 2008 Mar 26;3(3):e1849. Epub 2008 Mar 26.

Department of Oncology, University of Cambridge, CRUK Cambridge Research Institute, Cambridge, United Kingdom.

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March 2008

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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November 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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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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December 2003

Hair anomalies as a sign of mitochondrial disease.

Eur J Pediatr 2003 Jul 24;162(7-8):459-461. Epub 2003 Apr 24.

Neuropsichiatria Infantile,ASL 2, Ospedale Martini, Torino, Italy.

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July 2003

Schinzel-Giedion syndrome with sacrococcygeal teratoma.

J Pediatr Hematol Oncol 2003 Jul;25(7):558-61

Divisione di Pediatria Oncologica, Università degli Studi di Torino, Piazza Polonia 94, 10100 Torino, Italy.

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July 2003

Subcortical band heterotopia with simplified gyral pattern and syndactyly.

Am J Med Genet A 2003 Jun;119A(2):207-10

Division of Child Neurology and Psychiatry, University of Pisa, Pisa, Italy.

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June 2003

Hair changes in congenital disorders of glycosylation (CDG type 1).

Eur J Pediatr 2003 Feb;162(2):114-5

Clinical Genetics, Department of Paediatrics, University of Turin, Piazza Polonia 94, 10126 Turin, Italy.

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February 2003