Publications by authors named "Pierangela Castorina"

22Publications

Audiovestibular Phenotypes and Advanced Magnetic Resonance Imaging Features of Cochlin Gene Mutation Carriers.

Audiol Neurootol 2019 7;24(4):166-173. Epub 2019 Aug 7.

Audiology Unit, Department of Clinical Sciences and Community, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Università degli Studi di Milano, Milan, Italy.

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http://dx.doi.org/10.1159/000501292DOI Listing
May 2020

The genetics of the alternative pathway of complement in the pathogenesis of HELLP syndrome.

J Matern Fetal Neonatal Med 2012 Nov 7;25(11):2322-5. Epub 2012 Jun 7.

Department Obstet-Gynecol, Fondazione Cà Granda, Ospedale Maggiore Policlinico, Milan, Italy.

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http://dx.doi.org/10.3109/14767058.2012.694923DOI Listing
November 2012

GJB2 and MTRNR1 contributions in children with hearing impairment from Northern Cameroon.

Int J Audiol 2011 Feb 29;50(2):133-8. Epub 2010 Nov 29.

Laboratory of Medical Genetics, Molecular Genetic Sector, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.

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http://dx.doi.org/10.3109/14992027.2010.537377DOI Listing
February 2011

Triple X syndrome: characteristics of 42 Italian girls and parental emotional response to prenatal diagnosis.

Eur J Pediatr 2010 Oct 15;169(10):1255-61. Epub 2010 May 15.

UOD Genetica Medica, Dipartimento Area Salute della Donna del Bambino e del Neonato Fondazione IRCCS Cà Granda, Ospedale Maggiore Policlinico, Milan, Italy.

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http://dx.doi.org/10.1007/s00431-010-1221-8DOI Listing
October 2010

A new de novo missense mutation in connexin 26 in a sporadic case of nonsyndromic deafness.

Laryngoscope 2007 May;117(5):821-4

Laboratorio di Genetica Medica, Settore di Genetica Molecolare, Fondazione Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena, Milano, Italy.

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http://dx.doi.org/10.1097/MLG.0b013e31803330d9DOI Listing
May 2007

RNA processing defects of the helicase gene RECQL4 in a compound heterozygous Rothmund-Thomson patient.

Am J Med Genet A 2003 Jul;120A(3):395-9

Department of Biology and Genetics, Medical Faculty, University of Milan, Italy.

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http://dx.doi.org/10.1002/ajmg.a.20154DOI Listing
July 2003