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BALDAZZI, LILIA

BALDAZZI, LILIA  

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Risultati 1 - 20 di 38 (tempo di esecuzione: 0.036 secondi).
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,... espandi 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... espandiIUSEPPE 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... espandiica; 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... espandihera 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... espandicognani 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) -