CRIS Current Research Information System

MENABO', SOARA

MENABO', SOARA  

DIPARTIMENTO DI SCIENZE MEDICHE E CHIRURGICHE  

Assegnisti  

Mostra records
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.pdf; ijms-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 -