Sfoglia per Autore
High Variability of Sexual Ambiguity and Clinical Expression in two Patients with a 46,XY del(9p) Kariotype
2004 A. Balsamo; M. Gennari; E. Malpezzi; A. Mattarozzi; S. Strocchi; A. L. Nicoletti; A. Cicognani; E. Cacciari
SRD5A2 gene analysis in Italian patients with male pseudohermaphroditism.
2004 A.Nicoletti; L.Baldazzi; M.Gennari; L.Barp; P.Pirazzoli; A.Balsamo; A.Cicognani.
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.
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.
A NOVEL FRAME-SHIFT MUTATION IN THE SHOX GENE IN A SUBJECT WITH LERI-WEIL DYSCHONDROSTEOSIS.
2005 Nicoletti A.; Baldazzi L.; Antelli A.; Mazzanti L.; Baronio F.; Menabò S.; Pirazzoli P.
SRD5A2 gene analysis in an Italian population of under-masculinized 46,XY subjects.
2005 Nicoletti A; Baldazzi L; Balsamo A; Barp L; Pirazzoli P; Gennari M; Radetti G; Cacciari E; Cicognani A.
Two novel GnRHR gene mutations in two siblings with hypogonadotropic hypogonadism. Eur J Endocrinol
2006 Antelli A; Baldazzi L; Balsamo A; Pirazzoli P; Nicoletti A; Gennari M; Cicognani A.
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 their unaffected father
2007 Pirazzoli P.; Nicoletti A.; Gennari M.; Baldazzi L.; Balsamo A.; Mencarelli F.; 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
Three new mutations in androgen receptor gene identified in patients with 46,XY SDS: Complications for genetic counselling
2008 Nicoletti A.; Baldazzi L.; Menabò S.; Gennari M.; Cangemi G.; Maccaferri M.; Cicognani A.
Three Novel AMHGene Mutations in a Patient with Persistent Mullerian Duct Syndrome and Normal AMH Serum Dosage.
2008 Menabò S; Balsamo A; Nicoletti A; Gennari M; Pirazzoli P; Cicognani A; Baldazzi L.
17beta-Hydroxysteroid dehydrogenase-3 deficiency: from pregnancy to adolescence
2009 Bertelloni S.; Balsamo A.; Giordani L. ; Fischetto R.; Russo G.; Delvecchio M.; Gennari M.; Nicoletti A.; Maggio M.C.; Concolino D.; Cavallo L.; Cicognani A.; Chiumello G.; Hiort O.; Baroncelli G.I.; Faienza M.F.
Thyrotropin-stimulating hormone receptor gene analysis in pediatric patients with non-autoimmune subclinical hypothyroidism
2009 Nicoletti A; Bal M; De Marco G; Baldazzi L; Agretti P; Menabò S; Ballarini E; Cicognani A; Tonacchera M; Cassio A.
TSHR gene analysis in paediatric subjects with NASH (non autoimmune subclinical hypothyroidism) not selected by neonatal screening
2009 A.Nicoletti; M.Bal; A. Cassio; L.Baldazzi ; M.Tonacchera; S.Menabò; G.Sponza; E.Ballarini; A . Cicognani
Characterization of deletions at 9p affecting the candidate regions for sex reversal and deletion 9p syndrome by MLPA.
2009 Barbaro M.; Balsamo A.; Anderlid B.M.; Myhre A.G.; Gennari M.; Nicoletti A.; Pittalis M.C.; Oscarson M.; Wedell 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
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.
SHOX dosage and final height (FH) in Turner syndrome (TS) treated with GH-therapy
2011 Mazzanti L.; Nicoletti A.; Tamburrino F.; Scarano E.; Baldazzi L.; Ragni M.C.; Perri A.; De Angelis C.; Cicognani A.
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.
2011 Baldazzi L.; Balsamo A.; Nicoletti A.; Menabò S.; Rinaldini D.; Cangemi G.; Balsamo C.; Pirazzoli P.; Cicognani A.
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 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 | - |
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 | - |
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 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 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 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) | - |
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) | - |
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