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.
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.
A new DAX1 gene mutation associated with congenital adrenal hypoplasia and hypogonadotropic hypogonadism
2005 Balsamo A.; Antelli A.; Baldazzi L.; Baronio F.; Lazareva D.; Cassio A.; Cicognani A.
A novel frame-shift mutation in the SHOX gene in a subject with Léri-Weill dyschondrosteosis
2005 Nicoletti A.; Baldazzi L.; Antelli A.; Mazzanti L.; Baronio F.; Menabò S.; Pirazzoli P.; Cicognani A.
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
Analysis of the TSHR gene in patients with isolated hyperthyrotropinemia
2005 M. Bal;L. Barp;A. Cassio;L. Baldazzi;S. Salardi;L. Lugaresi;A. Cicognani
CYP11B1 gene analysis in 3 Italian patients: identification of a new mutation.
2006 A.Antelli; A.Balsamo; L.Baldazzi; A.L.Nicoletti; M.Gennari; S.Menabò; G.Maltoni; A.Cicognani.
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
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
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.
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.
Gonadal dysgenesis and XY sex reversal in one patient with a deletion of the distal short arm of chromosome 9 (9p).
2004 A.Balsamo; M.Gennari; MC.Pittalis; P.Biso; L.Baldazzi; L.Mazzanti; R.De Castro; A.Cicognani.
Gonadoblastoma in Turner syndrome and Y-chromosome-derived material.
2005 Mazzanti L; Cicognani A; Baldazzi L; Bergamaschi R; Scarano E; Strocchi S; Nicoletti A; Mencarelli F; Pittalis M; Forabosco A; Cacciari E.
Height outcome and pubertal development in CYP21 genotyped CAH male patients
2004 A.Balsamo; L.Baldazzi; L.Barp; F.Baronio; M.Gennari; C.Retetangos; A.Cassio; A.Cicognani; E.Cacciari.
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.
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
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 | - |
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) | - |
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) | - |
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 | - |
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) | - |