BALDAZZI, LILIA
BALDAZZI, LILIA
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.
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.
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
Molecular characterization to predict tetrahydrobiopterin (BH4) responsiveness in phenylalanine hydroxylase (PAH) deficiency
2012 I.Bettocchi; A.Nicoletti; F.Baronio; S.Monti; A.Rizzello; L.Baldazzi; A.Cassio; A.Pession; M.Bal
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, Lilia; Balsamo, Antonio; Nicoletti, Annalisa; Menabo', Soara; Rinaldini, D.; Cangemi, GIUSEPPE ALESSANDRO; Balsamo, Claudia; Pirazzoli, Piero; Cicognani, Alessandro
A sequence variation in 3’UTR of CYP21A2 gene correlates with a mild form of Congenital Adrenal Hyperplasia
2010 Menabo', Soara; Balsamo, Antonio; Baldazzi, Lilia; Barbaro, M.; Nicoletti, Annalisa; Conti, Veronica; Pirazzoli, Piero; Wedell, A.; Cicognani, Alessandro
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
Thyrotropin-stimulating hormone receptor gene analysis in pediatric patients with non-autoimmune subclinical hypothyroidism
2009 Nicoletti A; Bal M; De Marco G; Baldazzi L; Agretti P; Menabò S; Ballarini E; Cicognani A; Tonacchera M; Cassio A.
TSHR gene analysis in paediatric subjects with NASH (non autoimmune subclinical hypothyroidism) not selected by neonatal screening
2009 A.Nicoletti; M.Bal; A. Cassio; L.Baldazzi ; M.Tonacchera; S.Menabò; G.Sponza; E.Ballarini; A . Cicognani
Gene dosage imbalances in patients with 46,XY gonadal DSD detected by an in-house-designed synthetic probe set for multiplex ligation-dependent probe amplification analysis.
2008 Barbaro M; Cicognani A; Balsamo A; Löfgren A; Baldazzi L; Wedell A; Oscarson M.
Genotypic and phenotypic variability in 54 subjects with congenital hypopituitarism
2008 Zucchini S.; Baldazzi L.; Pirazzoli P.; Menabò S.; Conti V.; Sponza G.; Costa M.; Cicognani A.
The molecular biology of congenital adrenal hyperplasia in Mediterranean Area
2008 Balsamo A.; Baldazzi L.; Menabò S.; Cicognani A.
The molecular biology of congenital adrenal hyperplasia in the Mediterranean area
2008 Balsamo A.; Baldazzi L.; Menabò S.; Cicognani A.
Three new mutations in androgen receptor gene identified in patients with 46,XY SDS: Complications for genetic counselling
2008 Nicoletti A.; Baldazzi L.; Menabò S.; Gennari M.; Cangemi G.; Maccaferri M.; Cicognani A.
Three Novel AMHGene Mutations in a Patient with Persistent Mullerian Duct Syndrome and Normal AMH Serum Dosage.
2008 Menabò S; Balsamo A; Nicoletti A; Gennari M; Pirazzoli P; Cicognani A; Baldazzi L.
A molecular analysis of candidate genes for hypospadias in Italian subjects
2007 Nicoletti A.; Baldazzi L.; Menabò S.; Balsamo A.; Gennari M.; Buzi F.; Pasini A.; Cicognani A.
A new case of familial mutation in the SRY gene implicated in the pure gonadal dysgenesis in two sisters and in their unaffected father
2007 P. Pirazzoli; A. Nicoletti; M. Gennari; L. Baldazzi; A. Balsamo; F. Mencarelli; A. Cicognani
A new case of familial mutation in the SRY gene implicated in the pure gonadal dysgenesis in two sisters and their unaffected father
2007 Pirazzoli P.; Nicoletti A.; Gennari M.; Baldazzi L.; Balsamo A.; Mencarelli F.; Cicognani A.
| Titolo | Autore(i) | Anno | Periodico | Editore | Tipo | File |
|---|---|---|---|---|---|---|
| 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 | - |
| 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 | - |
| 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 | - |
| Molecular characterization to predict tetrahydrobiopterin (BH4) responsiveness in phenylalanine hydroxylase (PAH) deficiency | I.Bettocchi; A.Nicoletti; F.Baronio; S.Monti; A.Rizzello; L.Baldazzi; A.Cassio; A.Pession; M.Bal | 2012-01-01 | JOURNAL OF INHERITED METABOLIC DISEASE | - | 4.02 Riassunto (Abstract) | - |
| 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, Lilia; Balsamo, Antonio; Nicoletti, Annalisa; Menabo', Soara; Rinaldini, D.; Cangemi, G...IUSEPPE ALESSANDRO; Balsamo, Claudia; Pirazzoli, Piero; Cicognani, Alessandro | 2011-01-01 | HORMONE RESEARCH IN PAEDIATRICS | - | 4.02 Riassunto (Abstract) | - |
| A sequence variation in 3’UTR of CYP21A2 gene correlates with a mild form of Congenital Adrenal Hyperplasia | Menabo', Soara; Balsamo, Antonio; Baldazzi, Lilia; Barbaro, M.; Nicoletti, Annalisa; Conti, Veron...ica; Pirazzoli, Piero; Wedell, A.; Cicognani, Alessandro | 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 | - |
| Thyrotropin-stimulating hormone receptor gene analysis in pediatric patients with non-autoimmune subclinical hypothyroidism | Nicoletti A; Bal M; De Marco G; Baldazzi L; Agretti P; Menabò S; Ballarini E; Cicognani A; Tonacc...hera M; Cassio A. | 2009-01-01 | THE JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM | - | 1.01 Articolo in rivista | - |
| TSHR gene analysis in paediatric subjects with NASH (non autoimmune subclinical hypothyroidism) not selected by neonatal screening | A.Nicoletti; M.Bal; A. Cassio; L.Baldazzi ; M.Tonacchera; S.Menabò; G.Sponza; E.Ballarini; A . Ci...cognani | 2009-01-01 | HORMONE RESEARCH | - | 4.02 Riassunto (Abstract) | - |
| Gene dosage imbalances in patients with 46,XY gonadal DSD detected by an in-house-designed synthetic probe set for multiplex ligation-dependent probe amplification analysis. | Barbaro M; Cicognani A; Balsamo A; Löfgren A; Baldazzi L; Wedell A; Oscarson M. | 2008-01-01 | 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) | - |
| The molecular biology of congenital adrenal hyperplasia in Mediterranean Area | Balsamo A.; Baldazzi L.; Menabò S.; Cicognani A. | 2008-01-01 | HORMONE RESEARCH | - | 1.06 Abstract in rivista | - |
| The molecular biology of congenital adrenal hyperplasia in the Mediterranean area | Balsamo A.; Baldazzi L.; Menabò S.; Cicognani A. | 2008-01-01 | HORMONE RESEARCH | - | 1.06 Abstract in rivista | - |
| Three new mutations in androgen receptor gene identified in patients with 46,XY SDS: Complications for genetic counselling | Nicoletti A.; Baldazzi L.; Menabò S.; Gennari M.; Cangemi G.; Maccaferri M.; Cicognani A. | 2008-01-01 | HORMONE RESEARCH | - | 4.02 Riassunto (Abstract) | - |
| Three Novel AMHGene Mutations in a Patient with Persistent Mullerian Duct Syndrome and Normal AMH Serum Dosage. | Menabò S; Balsamo A; Nicoletti A; Gennari M; Pirazzoli P; Cicognani A; Baldazzi L. | 2008-01-01 | HORMONE RESEARCH | - | 1.01 Articolo in rivista | - |
| 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 new case of familial mutation in the SRY gene implicated in the pure gonadal dysgenesis in two sisters and in their unaffected father |
P. Pirazzoli; A. Nicoletti; M. Gennari; L. Baldazzi; A. Balsamo; F. Mencarelli; A. Cicognani |
2007-01-01 | HORMONE RESEARCH | - | 4.02 Riassunto (Abstract) | - |
| A new case of familial mutation in the SRY gene implicated in the pure gonadal dysgenesis in two sisters and their unaffected father | Pirazzoli P.; Nicoletti A.; Gennari M.; Baldazzi L.; Balsamo A.; Mencarelli F.; Cicognani A. | 2007-01-01 | HORMONE RESEARCH | - | 4.02 Riassunto (Abstract) | - |