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au.\*:("CASTORINA, Pierangela")

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RNA processing defects of the helicase gene RECQL4 in a compound heterozygous Rothmund-Thomson patientBEGHINI, Alessandro; CASTORINA, Pierangela; ROVERSI, Gaia et al.American journal of medical genetics. 2003, Vol 120A, Num 3, pp 395-399, issn 0148-7299, 5 p.Article

Multicolor FISH in chronic lymphocytic leukemia. An interphase study of patients with early-onset diseaseDONEDA, Luisa; CASTORINA, Pierangela; TEDESCHI, Alessandra et al.Cancer genetics and cytogenetics. 2001, Vol 125, Num 1, pp 63-69, issn 0165-4608Article

Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier geneHILGERT, Nele; HUENTELMAN, Matthew J; CASTORINA, Pierangela et al.European journal of human genetics. 2009, Vol 17, Num 4, pp 517-524, issn 1018-4813, 8 p.Article

Mechanisms causing imprinting defects in familial Beckwith-Wiedemann syndrome with wilms' tumourSPARAGO, Angela; RUSSO, Silvia; ANICHINI, Cecilia et al.Human molecular genetics (Print). 2007, Vol 16, Num 3, pp 254-264, issn 0964-6906, 11 p.Article

A new de novo missense mutation in connexin 26 in a sporadic case of nonsyndromic deafnessPRIMIGNANI, Paola; TROTTA, Luca; TRAVI, Maurizio et al.The Laryngoscope. 2007, Vol 117, Num 5, pp 821-824, issn 0023-852X, 4 p.Article

Triple X syndrome: characteristics of 42 Italian girls and parental emotional response to prenatal diagnosisLALATTA, Faustina; QUAGLIARINI, Donatella; NARETTO, Valeria Giorgia et al.European journal of pediatrics. 2010, Vol 169, Num 10, pp 1255-1261, issn 0340-6199, 7 p.Article

A novel mutation within the MIR96 gene causes non-syndromic inherited hearing loss in an Italian family by altering pre-miRNA processingSOLDA, Giulia; ROBUSTO, Michela; PRIMIGNANI, Paola et al.Human molecular genetics (Print). 2012, Vol 21, Num 3, pp 577-585, issn 0964-6906, 9 p.Article

High phenotypic intrafamilial variability in patients with Pendred syndrome and a novel duplication in the SLC26A4 gene : clinical characterization and functional studies of the mutated SLC26A4 proteinFUGAZZOLA, Laura; CIRELLO, Valentina; PAULMICHL, Markus et al.European journal of endocrinology. 2007, Vol 157, Num 3, pp 331-338, issn 0804-4643, 8 p.Article

GJB2 mutations and degree of hearing loss : A multicenter studySNOECKX, Rikkert L; HUYGEN, Patrick L. M; ORZAN, Eva et al.American journal of human genetics. 2005, Vol 77, Num 6, pp 945-957, issn 0002-9297, 13 p.Article

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