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Mostrati risultati da 1 a 20 di 29
Titolo Autore(i) Anno Periodico Editore Tipo File
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) -
SRD5A2 gene analysis in Italian patients with male pseudohermaphroditism. A.Nicoletti; L.Baldazzi; M.Gennari; L.Barp; P.Pirazzoli; A.Balsamo; A.Cicognani. 2004-01-01 - O. Hiort 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) -
SRD5A2 gene analysis in an Italian population of under-masculinized 46,XY subjects. Nicoletti A; Baldazzi L; Balsamo A; Barp L; Pirazzoli P; Gennari M; Radetti G; Cacciari E; Cicogn...ani A. 2005-01-01 CLINICAL ENDOCRINOLOGY - 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) -
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 -
Two novel GnRHR gene mutations in two siblings with hypogonadotropic hypogonadism. Eur J Endocrinol Antelli A; Baldazzi L; Balsamo A; Pirazzoli P; Nicoletti A; Gennari M;
Cicognani A. 		2006-01-01 EUROPEAN JOURNAL OF ENDOCRINOLOGY - 1.01 Articolo in rivista -
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 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) -
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 -
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 -
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...hera 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...cognani 2009-01-01 HORMONE RESEARCH - 4.02 Riassunto (Abstract) -
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 -
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) -
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) -
SHOX dosage and final height (FH) in Turner syndrome (TS) treated with GH-therapy Mazzanti L.; Nicoletti A.; Tamburrino F.; Scarano E.; Baldazzi L.; Ragni M.C.; Perri A.; De Angel...is C.; Cicognani A. 2011-01-01 HORMONE RESEARCH IN PAEDIATRICS Karger 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 L.; Balsamo A.; Nicoletti A.; Menabò S.; Rinaldini D.; Cangemi G.; Balsamo C.; Pirazzoli... P.; Cicognani A. 2011-01-01 HORMONE RESEARCH IN PAEDIATRICS - 4.02 Riassunto (Abstract) -
Mostrati risultati da 1 a 20 di 29
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