Sfoglia per Autore  

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Mostrati risultati da 1 a 20 di 40
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) -
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 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) -
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) -
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) -
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 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) -
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 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) -
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) -
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 -
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) -
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 -
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 -
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 -
Mostrati risultati da 1 a 20 di 40
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