BALDAZZI, LILIA

BALDAZZI, LILIA  

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Risultati 1 - 20 di 38 (tempo di esecuzione: 0.039 secondi).
Titolo Autore(i) Anno Periodico Editore Tipo File
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) -
A new DAX1 gene mutation associated with congenital adrenal hypoplasia and hypogonadotropic hypogonadism Balsamo A.; Antelli A.; Baldazzi L.; Baronio F.; Lazareva D.; Cassio A.; Cicognani A. 2005-01-01 AMERICAN JOURNAL OF MEDICAL GENETICS. PART A - 1.01 Articolo in rivista -
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) -
Analysis of the TSHR gene in patients with isolated hyperthyrotropinemia M. Bal;L. Barp;A. Cassio;L. Baldazzi;S. Salardi;L. Lugaresi;A. Cicognani 2005-01-01 HORMONE RESEARCH - 4.02 Riassunto (Abstract) -
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 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 -
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 -
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 -
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) -
Gonadal dysgenesis and XY sex reversal in one patient with a deletion of the distal short arm of chromosome 9 (9p). A.Balsamo; M.Gennari; MC.Pittalis; P.Biso; L.Baldazzi; L.Mazzanti; R.De Castro; A.Cicognani. 2004-01-01 - O.Hiort 4.02 Riassunto (Abstract) -
Gonadoblastoma in Turner syndrome and Y-chromosome-derived material. Mazzanti L; Cicognani A; Baldazzi L; Bergamaschi R; Scarano E; Strocchi S; Nicoletti A; Mencarell...i F; Pittalis M; Forabosco A; Cacciari E. 2005-01-01 AMERICAN JOURNAL OF MEDICAL GENETICS. PART A - 1.01 Articolo in rivista -
Height outcome and pubertal development in CYP21 genotyped CAH male patients A.Balsamo; L.Baldazzi; L.Barp; F.Baronio; M.Gennari; C.Retetangos; A.Cassio; A.Cicognani; E.Cacci...ari. 2004-01-01 - s.n 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) -
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 -