MENABO', SOARA

MENABO', SOARA  

DIPARTIMENTO DI SCIENZE MEDICHE E CHIRURGICHE  

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Risultati 1 - 20 di 40 (tempo di esecuzione: 0.042 secondi).
Titolo Autore(i) Anno Periodico Editore Tipo File
46, XX DSD due to androgen excess in monogenic disorders of steroidogenesis: Genetic, biochemical, and clinical features Federico Baronio, Rita Ortolano, Soara Menabò, Alessandra Cassio, Lilia Baldazzi, Valeria Di Nata...le, Giacomo Tonti, Benedetta Vestrucci, Antonio Balsamo 2019-01-01 INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES - 1.01 Articolo in rivista 46,XX DSD.pdfijms-20-04605-s001.pdf
A molecular analysis of candidate genes for hypospadias in Italian subjects Annalisa Nicoletti; Lilia Baldazzi; Soara Menabò;
Antonio Balsamo; Monia Gennari; Fabio Buzi; An...
drea Pasini;
Alessandro Cicognani
2007-01-01 HORMONE RESEARCH - 4.02 Riassunto (Abstract) -
A molecular analysis of candidate genes for hypospadias in Italian subjects Nicoletti A.; Baldazzi L.; Menabò S.; Balsamo A.; Gennari M.; Buzi F.; Pasini A.; Cicognani A. 2007-01-01 HORMONE RESEARCH - 4.02 Riassunto (Abstract) -
A novel frame-shift mutation in the SHOX gene in a subject with Léri-Weill dyschondrosteosis Nicoletti A.; Baldazzi L.; Antelli A.; Mazzanti L.; Baronio F.; Menabò S.; Pirazzoli P.; Cicognan...i A. 2005-01-01 HORMONE RESEARCH - 4.02 Riassunto (Abstract) -
Autosomal dominant pseudohypoaldosteronism type 1 (PHA1) in the Italian population: functional characterization of two novel hMR (NR3C2) gene mutations and frequency and function of three NR3C2 gene SNPs Antonio Balsamo; Alessandro Cicognani; Monia Gennari;
Wolfgang G Sippel; Soara Menabò; Federico ...
Baronio;
Wolfgang G Riepe
2007-01-01 HORMONE RESEARCH - 4.02 Riassunto (Abstract) -
Autosomal dominant pseudohypoaldosteronism type 1 (PHA1) in the Italian population: functional characterization of two novel hMR (NR3C2) gene mutations and frequency and function of three gene SNPs Balsamo A.; Cicognani A.; Gennari M.; Sippel W.G.; Menabò S.; Baronio F.; Riepe F. 2007-01-01 HORMONE RESEARCH - 4.02 Riassunto (Abstract) -
Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: functional consequences of four CYP11B1 mutations Menabò S;Polat S;Baldazzi L;Kulle AE;Holterhus PM;Grötzinger J;Fanelli F;Balsamo A;Riepe FG 2014-01-01 EUROPEAN JOURNAL OF HUMAN GENETICS - 1.01 Articolo in rivista -
Copy number determination of hypothyroidism genes by MLPA analysis in patients with hypothyroidism and thyroid hypoplasia Annalisa Nicoletti; Alessandra Cassio; Ilaria Bettocchi; Soara Menabò;
Angela Rizzello; Giuseppe ...
A. Cangemi; Laura Mazzanti; Lilia Baldazzi
2013-01-01 HORMONE RESEARCH IN PAEDIATRICS - 1.06 Abstract in rivista -
CYP11B1 gene analysis in 3 Italian patients: identification of a new mutation. A.Antelli; A.Balsamo; L.Baldazzi; A.L.Nicoletti; M.Gennari; S.Menabò; G.Maltoni; A.Cicognani. 2006-01-01 HORMONE RESEARCH - 4.02 Riassunto (Abstract) -
CYP21A2 AND CYP11B1: FIRST REPORT OF A DIGENIC INHERITANCE IN CAH. Menabò S.; Marsigli A.; Baldazzi L.; Nicoletti A.; Pirazzoli P.; Balsamo A. 2012-01-01 HORMONE RESEARCH IN PAEDIATRICS - 4.02 Riassunto (Abstract) -
Determination of BMP15 gene dosage in a woman with TS and spontaneous menarche. Nicoletti A; Mazzanti L.; Menabò S.; Scarano E.; Tamburrino F.; Cangemi G.; Pirazzoli P.; Baldazzi L 2012-01-01 HORMONE RESEARCH IN PAEDIATRICS - 1.06 Abstract in rivista -
Functional characterization of naturally occurring NR3C2 gene mutations in Italian patients suffering from pseudohypoaldosteronism type 1 A.Balsamo; A.Cicognani; M.Gennari; W.G.Sippell; S.Menabò; F.Baronio; F.G.Riepe 2007-01-01 EUROPEAN JOURNAL OF ENDOCRINOLOGY - 1.01 Articolo in rivista -
A genetic epidemiology study of congenital adrenal hyperplasia in Italy Gialluisi, A; Menabò, S; Baldazzi, L; Casula, L; Meloni, A; Farci, M. C; Mariotti, S; Balestrino,... L; Ortolano, R; Murru, S; Carcassi, C; Loche, S; Balsamo, A; Romeo, G. 2018-01-01 CLINICAL GENETICS - 1.01 Articolo in rivista -
Genotypic and phenotypic variability in 54 subjects with congenital hypopituitarism Zucchini S.; Baldazzi L.; Pirazzoli P.; Menabò S.; Conti V.; Sponza G.; Costa M.; Cicognani A. 2008-01-01 HORMONE RESEARCH - 4.02 Riassunto (Abstract) -
Genotyping Patients with Differences of Sex Development: 25 Years of Investigation of an Italian Population of 308 Cases (194 46,XY and 114 46,XX) Lilia Baldazzi, Soara Menabo', Federico Baronio, Rita Ortolano,
Alessandra Cassio, Laura Mazzant...
i, Antonio Balsamo
2016-01-01 HORMONE RESEARCH IN PAEDIATRICS - 1.06 Abstract in rivista -
HDAC8 Loss of Function and SHOX Haploinsufficiency: Two Independent Genetic Defects Responsible for a Complex Phenotype Severi G.; Bonora E.; Perri A.; Scarano E.; Mazzanti L.; Isidori F.; Zuntini R.; Menabo S.; Grazi...ano C. 2019-01-01 CYTOGENETIC AND GENOME RESEARCH - 1.01 Articolo in rivista -
HESX1 gene analysis in a population of 45 patients with posterior pituitari ectopia (PPE) and GH deficiency (GHD): two novel mutations associated with a mild phenotype. Baldazzi L.; Zucchini S.; Menabò S.; Nicoletti A.; Baronio F.; Cangemi G; Pirazzoli P.; Cicognani A. 2010-01-01 HORMONE RESEARCH IN PAEDIATRICS - 4.02 Riassunto (Abstract) -
Identification of rare alleles in an Italian population of 284 patients with 21- hydroxylase deficiency by complete sequencing of the CYP21 gene L. Baldazzi; M. Barbaro; A. Balsamo ;S. Menabò; L. Barp;N. Greggio; L. Iughetti; L. Garavelli; G.... Cangemi;
A. Antelli; A. Cicognani
2005-01-01 HORMONE RESEARCH - 4.02 Riassunto (Abstract) -
Impact of molecular genetics on congenital adrenal hyperplasia management. A.Balsamo; L.Baldazzi; S.Menabò; A. Cicognani 2010-01-01 SEXUAL DEVELOPMENT - 1.01 Articolo in rivista -
Improving the diagnosis of 11β-hydroxylase deficiency using home-made MLPA probes: identification of a novel chimeric CYP11B2/CYP11B1 gene in a Sicilian patient Menabò, S; Boccassini, S; Gambineri, A; Balsamo, A; Pasquali, R; Prontera, O; Mazzanti, L; Baldaz...zi, L 2016-01-01 JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION - 1.01 Articolo in rivista -