Margherita Silengo

Margherita Silengo

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Margherita Silengo

Margherita Silengo

Publications by authors named "Margherita Silengo"

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

Genet Med 2018 09 4;20(9):965-975. Epub 2018 Jan 4.

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

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http://www.nature.com/articles/gim2017221
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http://dx.doi.org/10.1038/gim.2017.221DOI Listing
September 2018

Common PHOX2B poly-alanine contractions impair RET gene transcription, predisposing to Hirschsprung disease.

Biochim Biophys Acta Mol Basis Dis 2017 07 20;1863(7):1770-1777. Epub 2017 Apr 20.

UOC Genetica Medica, Istituto Giannina Gaslini, 16148, Genova, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.bbadis.2017.04.017DOI Listing
July 2017

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

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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http://dx.doi.org/10.1186/1755-8166-7-41DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4068070PMC
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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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

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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http://dx.doi.org/10.1186/1824-7288-39-21DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3608257PMC
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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http://dx.doi.org/10.1007/s00431-011-1455-0DOI Listing
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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http://dx.doi.org/10.1002/ajmg.a.34270DOI 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

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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http://dx.doi.org/10.1111/j.1651-2227.2008.01032.xDOI Listing
December 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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http://dx.doi.org/10.1016/j.ejmg.2007.05.005DOI Listing
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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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

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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http://dx.doi.org/10.1007/s00431-003-1228-5DOI Listing
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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http://dx.doi.org/10.1002/ajmg.a.20111DOI Listing
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

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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November 2002