Research TopicsSpecies | Anna SavoiaSummaryAffiliation: Telethon Institute of Genetics and Medicine Country: Italy Publications
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Detail Information
Publications
Spectrum of PTCH mutations in Italian nevoid basal cell-carcinoma syndrome patients: identification of thirteen novel allelesMaria Savino
Servizio di Genetica Medica, IRCCS Ospedale CSS, San Giovanni Rotondo, Italy
Hum Mutat 24:441. 2004..Except for p.T230P and p.F505_L506delinsLR, all the other mutations are predicted to determine a premature truncation of the protein...- Spectrum of FANCA mutations in Italian Fanconi anemia patients: identification of six novel alleles and phenotypic characterization of the S858R variantMaria Savino
Servizio di Genetica Medica, IRCCS Ospedale CSS, San Giovanni Rotondo, Foggia, Italy
Hum Mutat 22:338-9. 2003..The spectrum of FA mutations is widely in agreement with the heterogeneous ethnic origin of the Italian population... - Dissecting clinical findings: platelet defects segregate independently of deafness and cataract in a family affected by an apparent syndromic form of macrothrombocytopeniaSimone Gangarossa
ASL 7 Ragusa, , Italy
Int J Mol Med 16:437-41. 2005..Because of the relatively common occurrence of inherited hearing loss and, at least in the Mediterranean area, of platelet macrocytosis, the two traits occurred by chance in the same family and mimicked the MYH9-related disease... - Combined 17alpha-Hydroxylase/17,20-lyase deficiency caused by Phe93Cys mutation in the CYP17 geneAlfredo Di Cerbo
Division and Research Unit of Endocrinology and Department of Medical Genetics, Istituto di Ricovero e Cura a Carattere Scientifico Ospedale Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Italy
J Clin Endocrinol Metab 87:898-905. 2002..Our results shed more light on the structure-function relationship of the CYP17 protein indicating that Phe 93 is crucial for both enzymatic activities... 
Cleft lip with or without cleft palate: implication of the heavy chain of non-muscle myosin IIAMarcella Martinelli
J Med Genet 44:387-92. 2007..001), indicating that MYH9 might be a predisposing factor for CL/P, although its pathogenetic role needs to be investigated more accurately...- Autosomal dominant thrombocytopenias with reduced expression of glycoprotein IaPatrizia Noris
Department of Internal Medicine, University of Pavia, Italy
Thromb Haemost 95:483-9. 2006..Since no other similar cases have been reported in the literature, we suggest that an autosomal dominant thrombocytopenia associated with GPIa deficiency and alpha-granule defect represents a new form of inherited thrombocytopenia... - Pathogenetic mechanisms of hematological abnormalities of patients with MYH9 mutationsAlessandro Pecci
Department of Internal Medicine, University of Pavia, Italy
Hum Mol Genet 14:3169-78. 2005..The finding that the same mutations act through different mechanisms in different cells is surprising and requires further investigation... - Nonmuscle myosin heavy-chain gene MYH14 is expressed in cochlea and mutated in patients affected by autosomal dominant hearing impairment (DFNA4)Francesca Donaudy
Telethon Institute of Genetics and Medicine, Dipartimento di Patologia Generale, Seconda Universita di Napoli, Naples, Italy
Am J Hum Genet 74:770-6. 2004..These findings clearly demonstrate the role of MYH14 in causing autosomal dominant hearing loss and further confirm the crucial role of the myosin superfamily in auditive functions... - Effects of the R216Q mutation of GATA-1 on erythropoiesis and megakaryocytopoiesisCarlo L Balduini
Clinica Medica III, IRCCS Policlinico, San Matteo University, piazzale Golgi 27100 Pavia, Italy
Thromb Haemost 91:129-40. 2004.... - MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illnessMarco Seri
Laboratorio di Genetica Molecolare, Istituto G Gaslini, Genova, Italy
Medicine (Baltimore) 82:203-15. 2003..For this new nosologic entity, we propose the term "MHY9-related disease," which better interprets the recent knowledge in this field and identifies all patients at risk of developing renal, hearing, or visual defects... - Inherited thrombocytopenias: a proposed diagnostic algorithm from the Italian Gruppo di Studio delle PiastrineCarlo L Balduini
Dipartimento di Medicina Interna, IRCCS Policlinico San Matteo, Universita di Pavia, Italy
Haematologica 88:582-92. 2003..However, diagnosis of these disorders is often difficult and requires competences that are limited to specialized centers. We, therefore, suspect that inherited thrombocytopenias are underreported because their diagnosis is often missed... - Epstein syndrome: another renal disorder with mutations in the nonmuscle myosin heavy chain 9 geneMarco Seri
Laboratorio di Genetica Molecolare, Istituto G Gaslini, Genoa, Italy
Hum Genet 110:182-6. 2002..In conclusion, our results extend the allelic heterogeneity of MYH9 mutations to another clinical syndrome and contribute to the clarification of the pathogenesis of the various inherited giant platelet disorders... 
Investigation of MYH14 as a candidate gene in cleft lip with or without cleft palateMarcella Martinelli
Department of Histology, Embryology and Applied Biology, Centre of Molecular Genetics CARISBO Foundation, University of Bologna, Via Belmeloro, Bologna, Italy
Eur J Oral Sci 116:287-90. 2008..Our family-based investigation provided no evidence of association between MYH14 and CL/P alleles. These data do not support the involvement of MYH14 in CL/P among the Italian population...