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ItalianoMENABO', SOARA
Dettaglio
MENABO', SOARA
DIPARTIMENTO DI SCIENZE MEDICHE E CHIRURGICHE
Assegnisti
Pubblicazioni
Risultati 1 - 20 di 40 (tempo di esecuzione: 0.001 secondi).
| Titolo | Autore(i) | Anno | Periodico | Editore | Tipo | File | |
|---|---|---|---|---|---|---|---|
| 1 | 46, XX DSD due to androgen excess in monogenic disorders of steroidogenesis: Genetic, biochemical, and clinical features | Baronio F.; Ortolano R.; Menabo S.; Cassio A.; Baldazzi L.; Di Natale V.; Tonti G.; Vestrucci B.;... Balsamo A. | 2019 | INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES | 1.01 Articolo in rivista | ||
| 2 | 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 | HORMONE RESEARCH | 4.02 Riassunto (Abstract) | - | |
| 3 | 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 | HORMONE RESEARCH | 4.02 Riassunto (Abstract) | - | |
| 4 | 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 | HORMONE RESEARCH | 4.02 Riassunto (Abstract) | - | |
| 5 | 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 | HORMONE RESEARCH | 4.02 Riassunto (Abstract) | - | |
| 6 | 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 | HORMONE RESEARCH | 4.02 Riassunto (Abstract) | - | |
| 7 | 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 | EUROPEAN JOURNAL OF HUMAN GENETICS | 1.01 Articolo in rivista | - | |
| 8 | 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 | HORMONE RESEARCH IN PAEDIATRICS | 1.06 Abstract in rivista | - | |
| 9 | 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 | HORMONE RESEARCH | 4.02 Riassunto (Abstract) | - | |
| 10 | CYP21A2 AND CYP11B1: FIRST REPORT OF A DIGENIC INHERITANCE IN CAH. | Menabò S.; Marsigli A.; Baldazzi L.; Nicoletti A.; Pirazzoli P.; Balsamo A. | 2012 | HORMONE RESEARCH IN PAEDIATRICS | 4.02 Riassunto (Abstract) | - | |
| 11 | 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 | HORMONE RESEARCH IN PAEDIATRICS | 1.06 Abstract in rivista | - | |
| 12 | 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 | EUROPEAN JOURNAL OF ENDOCRINOLOGY | 1.01 Articolo in rivista | - | |
| 13 | 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 | CLINICAL GENETICS | 1.01 Articolo in rivista | - | |
| 14 | 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 | HORMONE RESEARCH | 4.02 Riassunto (Abstract) | - | |
| 15 | 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 | HORMONE RESEARCH IN PAEDIATRICS | 1.06 Abstract in rivista | - | |
| 16 | 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 | CYTOGENETIC AND GENOME RESEARCH | 1.01 Articolo in rivista | - | |
| 17 | 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 | HORMONE RESEARCH IN PAEDIATRICS | 4.02 Riassunto (Abstract) | - | |
| 18 | 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 | HORMONE RESEARCH | 4.02 Riassunto (Abstract) | - | |
| 19 | Impact of molecular genetics on congenital adrenal hyperplasia management. | A.Balsamo; L.Baldazzi; S.Menabò; A. Cicognani | 2010 | SEXUAL DEVELOPMENT | 1.01 Articolo in rivista | - | |
| 20 | 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 | JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION | 1.01 Articolo in rivista | - |
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