CRIS Current Research Information System

NICOLETTI, ANNALISA

NICOLETTI, ANNALISA  

DIPARTIMENTO DI SCIENZE PER LA QUALITA' DELLA VITA  

Personale tecnico amm.vo  

Nicoletti A.; A. L. NICOLETTI; NICOLETTI L.; A. NICOLETTI; Annalisa Nicoletti  

Mostra records
Risultati 1 - 20 di 29 (tempo di esecuzione: 0.154 secondi).
Titolo Autore(i) Anno Periodico Editore Tipo File
17beta-Hydroxysteroid dehydrogenase-3 deficiency: from pregnancy to adolescence Bertelloni S.; Balsamo A.; Giordani L. ; Fischetto R.; Russo G.; Delvecchio M.; Gennari M.; Nicol...etti A.; Maggio M.C.; Concolino D.; Cavallo L.; Cicognani A.; Chiumello G.; Hiort O.; Baroncelli G.I.; Faienza M.F. 2009-01-01 JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION - 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 NOVEL FRAME-SHIFT MUTATION IN THE SHOX GENE IN A SUBJECT WITH LERI-WEIL DYSCHONDROSTEOSIS. Nicoletti A.; Baldazzi L.; Antelli A.; Mazzanti L.; Baronio F.; Menabò S.; Pirazzoli P. 2005-01-01 HORMONE RESEARCH - 4.02 Riassunto (Abstract) -
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) -
A sequence variation in 3’UTR of CYP21A2 gene correlates with a mild form of congenital adrenal hyperplasia. Menabò S; Balsamo A; Baldazzi L; Barbaro M; Nicoletti A; Conti V; Pirazzoli P; Wedell A; Cicognan...i A. 2012-01-01 JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION - 1.01 Articolo in rivista -
Characterization of deletions at 9p affecting the candidate regions for sex reversal and deletion 9p syndrome by MLPA. Barbaro M.; Balsamo A.; Anderlid B.M.; Myhre A.G.; Gennari M.; Nicoletti A.; Pittalis M.C.;
Osca...rson M.; Wedell A. 		2009-01-01 EUROPEAN JOURNAL OF HUMAN GENETICS - 1.01 Articolo in rivista -
Copy number determination of hypothyroidism genes by MLPA analysis in patients with hypothyroidism and thyroid hypoplasia Annalisa Nicoletti; Alessandra Cassio; Ilaria Bettocchi; Soara Menabò;
Angela Rizzello; Giuseppe ...A. Cangemi; Laura Mazzanti; Lilia Baldazzi 		2013-01-01 HORMONE RESEARCH IN PAEDIATRICS - 1.06 Abstract in rivista -
Current Loss-Of-Function Mutations in The Thyrotropin Receptor Gene: When to Investigate, Clinical Effects, and Treatment. Cassio, A; Nicoletti, A; Rizzello, A; Zazzetta, E; Bal, M; Baldazzi, L 2013-01-01 JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY - 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 -
First Description of Partial Atrioventricular Septal Defect in a Rabbit Di Girolamo, Nicola*; Palmieri, Chiara; Baron Toaldo, Marco; Nicoletti, Annalisa; Spattini, Gilio...la; Zeyen, Ulrich; Selleri, Paolo 2018-01-01 JOURNAL OF EXOTIC PET MEDICINE - 1.01 Articolo in rivista marco baron toaldo di girolamo.pdf
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 -
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) -
High Variability of Sexual Ambiguity and Clinical Expression in two Patients with a 46,XY del(9p) Kariotype A. Balsamo; M. Gennari; E. Malpezzi; A. Mattarozzi; S. Strocchi;
A. L. Nicoletti; A. Cicognani; ...E. Cacciari 		2004-01-01 HORMONE RESEARCH - 4.02 Riassunto (Abstract) -
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) -
NKX2.1-Related Disorders: a novel mutation with mild clinical presentation. Monti, Sara; Nicoletti, Annalisa; Cantasano, Antonella; Krude, H; Cassio, Alessandra 2015-01-01 THE ITALIAN JOURNAL OF PEDIATRICS - 1.01 Articolo in rivista IJP NKX2.1.pdf
Non classical CAH: molecular evaluation of 287 subjects from northern and southern Italy with comparison between genetical and hormonal results. Balsamo A.; Menabò S.; Wasniewska M.; Mirabelli S.; Nicoletti A.; Marsigli A.; Rinaldini D.; De L...uca F.; Mazzanti L.; Baldazzi L. 2013-01-01 HORMONE RESEARCH IN PAEDIATRICS - 1.06 Abstract in rivista -