BARBARO, MICHELA
BARBARO, MICHELA
Alma Mater Studiorum Universita' di Bologna
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
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.
Functional studies of two novel and two rare mutations in the 21-hydroxylase gene.
2006 Barbaro M; Baldazzi L; Balsamo A; Lajic S; Robins T; Barp L; Pirazzoli P; Cacciari E; Cicognani A; Wedell A.
Identification of rare alleles in an Italian population of 284 patients with 21- hydroxylase deficiency by complete sequencing of the CYP21 gene
2005 L. Baldazzi; M. Barbaro; A. Balsamo ;S. Menabò; L. Barp;N. Greggio; L. Iughetti; L. Garavelli; G. Cangemi; A. Antelli; A. Cicognani
Functional analysis of two recurrent amino acid substitutions in the CYP21 gene from Italian patients with congenital adrenal hyperplasia.
2004 Barbaro M; Lajic S; Baldazzi L; Balsamo A; Pirazzoli P; Cicognani A; Wedell A; Cacciari E
| 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 | 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) | - |
| 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 | - |
| Functional studies of two novel and two rare mutations in the 21-hydroxylase gene. | Barbaro M; Baldazzi L; Balsamo A; Lajic S; Robins T; Barp L; Pirazzoli P; Cacciari E; Cicognani A...; Wedell A. | 2006-01-01 | JOURNAL OF MOLECULAR MEDICINE | - | 1.01 Articolo in rivista | - |
| 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) | - |
| Functional analysis of two recurrent amino acid substitutions in the CYP21 gene from Italian patients with congenital adrenal hyperplasia. | Barbaro M; Lajic S; Baldazzi L; Balsamo A; Pirazzoli P; Cicognani A; Wedell A; Cacciari E | 2004-01-01 | THE JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM | - | 1.01 Articolo in rivista | - |