Sfoglia per Autore
A sequence variation in 3’UTR of CYP21A2 gene correlates with a mild form of Congenital Adrenal Hyperplasia
2010 S. Menabo;A.Balsamo; L. Baldazzi; M. Barbaro; A. Nicoletti; V.Conti; P. Pirazzoli; A. Wedell; A. Cicognani
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.
2010 Baldazzi L.; Zucchini S.; Menabò S.; Nicoletti A.; Baronio F.; Cangemi G; Pirazzoli P.; Cicognani A.
Impact of molecular genetics on congenital adrenal hyperplasia management.
2010 A.Balsamo; L.Baldazzi; S.Menabò; A. Cicognani
Study of the NR5A1 gene in a cohort of Italian patients with 46,XY Disorders of Sex Development (DSD) without adrenal insufficiency: identification of 7 novel mutations.
2011 Baldazzi L.; Balsamo A.; Nicoletti A.; Menabò S.; Rinaldini D.; Cangemi G.; Balsamo C.; Pirazzoli P.; Cicognani A.
Mutational spectrum of SHOX gene in 25 Italian pediatric patients with Lèri-Weill dyschondrosteosis (LWD).
2011 Nicoletti A.; Mazzanti L.; Pirazzoli P.; Menabò S.; Boccone L.; Scarano E.; Cicognani A.
CYP21A2 AND CYP11B1: FIRST REPORT OF A DIGENIC INHERITANCE IN CAH.
2012 Menabò S.; Marsigli A.; Baldazzi L.; Nicoletti A.; Pirazzoli P.; Balsamo A.
Determination of BMP15 gene dosage in a woman with TS and spontaneous menarche.
2012 Nicoletti A; Mazzanti L.; Menabò S.; Scarano E.; Tamburrino F.; Cangemi G.; Pirazzoli P.; Baldazzi L
A sequence variation in 3’UTR of CYP21A2 gene correlates with a mild form of congenital adrenal hyperplasia.
2012 Menabò S; Balsamo A; Baldazzi L; Barbaro M; Nicoletti A; Conti V; Pirazzoli P; Wedell A; Cicognani A.
Copy number determination of hypothyroidism genes by MLPA analysis in patients with hypothyroidism and thyroid hypoplasia
2013 Annalisa Nicoletti; Alessandra Cassio; Ilaria Bettocchi; Soara Menabò; Angela Rizzello; Giuseppe A. Cangemi; Laura Mazzanti; Lilia Baldazzi
Non classical CAH: molecular evaluation of 287 subjects from northern and southern Italy with comparison between genetical and hormonal results.
2013 Balsamo A.; Menabò S.; Wasniewska M.; Mirabelli S.; Nicoletti A.; Marsigli A.; Rinaldini D.; De Luca F.; Mazzanti L.; Baldazzi L.
Molecular and phenotypical characterization of 10 families with 11ß-hydroxylase deficiency
2013 Menabò S.; Baldazzi L.; Riepe F.; Cherchi G.; Russo G.; Franzoni A.; Gambineri A.; Fanelli F. ; Martini A.L.; Rinaldini D.; Balsamo A.
Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: functional consequences of four CYP11B1 mutations
2014 Menabò S;Polat S;Baldazzi L;Kulle AE;Holterhus PM;Grötzinger J;Fanelli F;Balsamo A;Riepe FG
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)
2016 Lilia Baldazzi, Soara Menabo', Federico Baronio, Rita Ortolano, Alessandra Cassio, Laura Mazzanti, Antonio Balsamo
Improving the diagnosis of 11β-hydroxylase deficiency using home-made MLPA probes: identification of a novel chimeric CYP11B2/CYP11B1 gene in a Sicilian patient
2016 Menabò, S; Boccassini, S; Gambineri, A; Balsamo, A; Pasquali, R; Prontera, O; Mazzanti, L; Baldazzi, L
Two Moroccan Sisters Presenting with a Severe Salt-Wasting Form of Congenital Adrenal Hyperplasia but Normal Female Genitalia
2017 Scaramuzzo, Rt; Menabò, S; Baldazzi, L; Moscuzza, F; Saba, A; Balsamo, A; Boldrini, A; Ghirri, P.
A genetic epidemiology study of congenital adrenal hyperplasia in Italy
2018 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.
Mutational and functional studies on NR5A1 gene in 46,XY disorders of sex development: identification of six novel loss of function mutations
2018 Rocca, Maria Santa; Ortolano, Rita; Menabò, Soara; Baronio, Federico; Cassio, Alessandra; Russo, Gianni; Balsamo, Antonio; Ferlin, Alberto; Baldazzi, Lilia*
HDAC8 Loss of Function and SHOX Haploinsufficiency: Two Independent Genetic Defects Responsible for a Complex Phenotype
2019 Severi G.; Bonora E.; Perri A.; Scarano E.; Mazzanti L.; Isidori F.; Zuntini R.; Menabo S.; Graziano C.
46, XX DSD due to androgen excess in monogenic disorders of steroidogenesis: Genetic, biochemical, and clinical features
2019 Federico Baronio, Rita Ortolano, Soara Menabò, Alessandra Cassio, Lilia Baldazzi, Valeria Di Natale, Giacomo Tonti, Benedetta Vestrucci, Antonio Balsamo
Steroid biomarkers for identifying non-classic adrenal hyperplasia due to 21-hydroxylase deficiency in a population of PCOS with suspicious levels of 17OH-progesterone
2020 Oriolo C.; Fanelli F.; Castelli S.; Mezzullo M.; Altieri P.; Corzani F.; Pelusi C.; Repaci A.; Di Dalmazi G.; Vicennati V.; Baldazzi L.; Menabo S.; Dormi A.; Nardi E.; Brillanti G.; Pasquali R.; Pagotto U.; Gambineri A.
| Titolo | Autore(i) | Anno | Periodico | Editore | Tipo | File |
|---|---|---|---|---|---|---|
| A sequence variation in 3’UTR of CYP21A2 gene correlates with a mild form of Congenital Adrenal Hyperplasia | S. Menabo;A.Balsamo; L. Baldazzi; M. Barbaro; A. Nicoletti; V.Conti; P. Pirazzoli; A. Wedell; A. ...Cicognani | 2010-01-01 | HORMONE RESEARCH IN PAEDIATRICS | - | 4.02 Riassunto (Abstract) | - |
| 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) | - |
| 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 | - |
| Study of the NR5A1 gene in a cohort of Italian patients with 46,XY Disorders of Sex Development (DSD) without adrenal insufficiency: identification of 7 novel mutations. | Baldazzi L.; Balsamo A.; Nicoletti A.; Menabò S.; Rinaldini D.; Cangemi G.; Balsamo C.; Pirazzoli... P.; Cicognani A. | 2011-01-01 | HORMONE RESEARCH IN PAEDIATRICS | - | 4.02 Riassunto (Abstract) | - |
| Mutational spectrum of SHOX gene in 25 Italian pediatric patients with Lèri-Weill dyschondrosteosis (LWD). | Nicoletti A.; Mazzanti L.; Pirazzoli P.; Menabò S.; Boccone L.; Scarano E.; Cicognani A. | 2011-01-01 | HORMONE RESEARCH IN PAEDIATRICS | Karger | 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 | - |
| A sequence variation in 3’UTR of CYP21A2 gene correlates with a mild form of congenital adrenal hyperplasia. | Menabò S; Balsamo A; Baldazzi L; Barbaro M; Nicoletti A; Conti V; Pirazzoli P; Wedell A; Cicognan...i A. | 2012-01-01 | JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION | - | 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 | - |
| Non classical CAH: molecular evaluation of 287 subjects from northern and southern Italy with comparison between genetical and hormonal results. | Balsamo A.; Menabò S.; Wasniewska M.; Mirabelli S.; Nicoletti A.; Marsigli A.; Rinaldini D.; De L...uca F.; Mazzanti L.; Baldazzi L. | 2013-01-01 | HORMONE RESEARCH IN PAEDIATRICS | - | 1.06 Abstract in rivista | - |
| Molecular and phenotypical characterization of 10 families with 11ß-hydroxylase deficiency | Menabò S.; Baldazzi L.; Riepe F.; Cherchi G.; Russo G.; Franzoni A.; Gambineri A.; Fanelli F. ; M...artini A.L.; Rinaldini D.; Balsamo A. | 2013-01-01 | HORMONE RESEARCH IN PAEDIATRICS | - | 1.06 Abstract in rivista | - |
| 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 | - |
| 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 | - |
| 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 | - |
| Two Moroccan Sisters Presenting with a Severe Salt-Wasting Form of Congenital Adrenal Hyperplasia but Normal Female Genitalia | Scaramuzzo, Rt; Menabò, S; Baldazzi, L; Moscuzza, F; Saba, A; Balsamo, A; Boldrini, A; Ghirri, P. | 2017-01-01 | SEXUAL DEVELOPMENT | - | 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 | - |
| Mutational and functional studies on NR5A1 gene in 46,XY disorders of sex development: identification of six novel loss of function mutations | Rocca, Maria Santa; Ortolano, Rita; Menabò, Soara; Baronio, Federico; Cassio, Alessandra; Russo, ...Gianni; Balsamo, Antonio; Ferlin, Alberto; Baldazzi, Lilia* | 2018-01-01 | FERTILITY AND STERILITY | - | 1.01 Articolo 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 | - |
| 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 |
| Steroid biomarkers for identifying non-classic adrenal hyperplasia due to 21-hydroxylase deficiency in a population of PCOS with suspicious levels of 17OH-progesterone | Oriolo C.; Fanelli F.; Castelli S.; Mezzullo M.; Altieri P.; Corzani F.; Pelusi C.; Repaci A.; Di... Dalmazi G.; Vicennati V.; Baldazzi L.; Menabo S.; Dormi A.; Nardi E.; Brillanti G.; Pasquali R.; Pagotto U.; Gambineri A. | 2020-01-01 | JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION | - | 1.01 Articolo in rivista | - |
Legenda icone
- file ad accesso aperto
- file disponibili sulla rete interna
- file disponibili agli utenti autorizzati
- file disponibili solo agli amministratori
- file sotto embargo
- nessun file disponibile