Sfoglia per Autore
Two Novel Missense mutations in the GnRHR Gene in Two Siblings with Isolated Hypogonadotropic Hypogonadism
2004 A. Antelli; L. Baldazzi; L. Barp; S. Menabò; M. Gennari; A. Cassio; A. Cicognani; E. Cacciari
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
Tre nuove variazioni di sequenza nel gene dell’AMH in un paziente con sindrome da persistenza dei dotti di Muller.
2005 S.Menabò; L.Baldazzi; A.Balsamo; M.Gennari; A.Nicoletti; A.Antelli; L.Lugaresi; A.Cicognani.
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.
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.
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.
Three new sequence variations of the AMH gene in an Italian patient with persistent Mullerian duct syndrome.
2006 S.Menabò; L.Baldazzi; A.Balsamo; A.L.Nicoletti; P.Pirazzoli; A.Cicognani.
Autosomal dominant pseudohypoaldosteronism type 1 (PHA1) in the Italian population: functional characterization of two novel hMR (NR3C2) gene mutations and frequency and function of three gene SNPs
2007 Balsamo A.; Cicognani A.; Gennari M.; Sippel W.G.; Menabò S.; Baronio F.; Riepe F.
A molecular analysis of candidate genes for hypospadias in Italian subjects
2007 Annalisa Nicoletti; Lilia Baldazzi; Soara Menabò; Antonio Balsamo; Monia Gennari; Fabio Buzi; Andrea Pasini; Alessandro Cicognani
Autosomal dominant pseudohypoaldosteronism type 1 (PHA1) in the Italian population: functional characterization of two novel hMR (NR3C2) gene mutations and frequency and function of three NR3C2 gene SNPs
2007 Antonio Balsamo; Alessandro Cicognani; Monia Gennari; Wolfgang G Sippel; Soara Menabò; Federico Baronio; Wolfgang G Riepe
Functional characterization of naturally occurring NR3C2 gene mutations in Italian patients suffering from pseudohypoaldosteronism type 1
2007 A.Balsamo; A.Cicognani; M.Gennari; W.G.Sippell; S.Menabò; F.Baronio; F.G.Riepe
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.
Transient 21-OHase deficiency in newborns suspected for CAH: May hydrocortisone treatment be beneficial or is simply inappropriate?
2008 Gallucci M.; Balsamo A.; Menabò S.; Bettocchi I.; Bal M.; Cicognani A.
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.
The molecular biology of congenital adrenal hyperplasia in the Mediterranean area
2008 Balsamo A.; Baldazzi L.; Menabò S.; Cicognani A.
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.
The molecular biology of congenital adrenal hyperplasia in Mediterranean Area
2008 Balsamo A.; Baldazzi L.; Menabò S.; Cicognani 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
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.
Titolo | Autore(i) | Anno | Periodico | Editore | Tipo | File |
---|---|---|---|---|---|---|
Two Novel Missense mutations in the GnRHR Gene in Two Siblings with Isolated Hypogonadotropic Hypogonadism |
A. Antelli; L. Baldazzi; L. Barp; S. Menabò; M. Gennari; A. Cassio; A. Cicognani; E. Cacciari |
2004-01-01 | HORMONE RESEARCH | - | 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) | - |
Tre nuove variazioni di sequenza nel gene dell’AMH in un paziente con sindrome da persistenza dei dotti di Muller. | S.Menabò; L.Baldazzi; A.Balsamo; M.Gennari; A.Nicoletti; A.Antelli; L.Lugaresi; A.Cicognani. | 2005-01-01 | - | R.Saggiorato & C. s.a.s. | 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) | - |
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) | - |
Three new sequence variations of the AMH gene in an Italian patient with persistent Mullerian duct syndrome. | S.Menabò; L.Baldazzi; A.Balsamo; A.L.Nicoletti; P.Pirazzoli; A.Cicognani. | 2006-01-01 | HORMONE RESEARCH | - | 4.02 Riassunto (Abstract) | - |
Autosomal dominant pseudohypoaldosteronism type 1 (PHA1) in the Italian population: functional characterization of two novel hMR (NR3C2) gene mutations and frequency and function of three gene SNPs | Balsamo A.; Cicognani A.; Gennari M.; Sippel W.G.; Menabò S.; Baronio F.; Riepe F. | 2007-01-01 | HORMONE RESEARCH | - | 4.02 Riassunto (Abstract) | - |
A molecular analysis of candidate genes for hypospadias in Italian subjects |
Annalisa Nicoletti; Lilia Baldazzi; Soara Menabò; Antonio Balsamo; Monia Gennari; Fabio Buzi; An...drea Pasini; Alessandro Cicognani |
2007-01-01 | HORMONE RESEARCH | - | 4.02 Riassunto (Abstract) | - |
Autosomal dominant pseudohypoaldosteronism type 1 (PHA1) in the Italian population: functional characterization of two novel hMR (NR3C2) gene mutations and frequency and function of three NR3C2 gene SNPs |
Antonio Balsamo; Alessandro Cicognani; Monia Gennari; Wolfgang G Sippel; Soara Menabò; Federico ...Baronio; Wolfgang G Riepe |
2007-01-01 | HORMONE RESEARCH | - | 4.02 Riassunto (Abstract) | - |
Functional characterization of naturally occurring NR3C2 gene mutations in Italian patients suffering from pseudohypoaldosteronism type 1 | A.Balsamo; A.Cicognani; M.Gennari; W.G.Sippell; S.Menabò; F.Baronio; F.G.Riepe | 2007-01-01 | 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) | - |
Transient 21-OHase deficiency in newborns suspected for CAH: May hydrocortisone treatment be beneficial or is simply inappropriate? | Gallucci M.; Balsamo A.; Menabò S.; Bettocchi I.; Bal M.; Cicognani A. | 2008-01-01 | 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 | - |
The molecular biology of congenital adrenal hyperplasia in the Mediterranean area | Balsamo A.; Baldazzi L.; Menabò S.; Cicognani A. | 2008-01-01 | HORMONE RESEARCH | - | 1.06 Abstract 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) | - |
The molecular biology of congenital adrenal hyperplasia in Mediterranean Area | Balsamo A.; Baldazzi L.; Menabò S.; Cicognani A. | 2008-01-01 | HORMONE RESEARCH | - | 1.06 Abstract 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) | - |
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 | - |
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