Gonadal dysfunction in a man with Noonan syndrome from the LZTR1 variant: case report and review of literature von Orsolini, Francesca, Pignata, Luisa, Baldinotti, Fulvia, Romano, Silvia, Tonacchera, Massimo, Canale, Domenico

Volltext

Non-Classic Congenital Adrenal Hyperplasia in Childhood: A Review von Bertolucci, Giulia, Tyutyusheva, Nina, Sepich, Margherita, Baldinotti, Fulvia, Caligo, Maria Adelaide, Sessa, Maria Rita, Peroni, Diego Giampiero, Bertelloni, Silvano

Volltext

A Novel Compound Heterozygous Mutation of HSD17B3 Gene Identified in a Patient With 46,XY Difference of Sexual Development von Cocchetti, Carlotta, Baldinotti, Fulvia, Romani, Alessia, Ristori, Jiska, Mazzoli, Francesca, Vignozzi, Linda, Maggi, Mario, Fisher, Alessandra Daphne

Volltext

Disorders/Differences of Sex Development Presenting in the Newborn With 46,XY Karyotype von Bertelloni, Silvano, Tyutyusheva, Nina, Valiani, Margherita, D'Alberton, Franco, Baldinotti, Fulvia, Caligo, Maria Adelaide, Baroncelli, Giampiero I, Peroni, Diego G

Volltext

Long-term efficacy and safety of rifampin in the treatment of a patient carrying a CYP24A1 loss-of-function variant von Brancatella, Alessandro, Cappellani, Daniele, Kaufmann, Martin, Semeraro, Antonella, Borsari, Simona, Sardella, Chiara, Baldinotti, Fulvia, Caligo, Maria Adelaide, Jones, Glenville, Marcocci, Claudio, Cetani, Filomena

Volltext

Hypercalcemia due to CYP24A1 mutations: a systematic descriptive review von Cappellani, Daniele, Brancatella, Alessandro, Morganti, Riccardo, Borsari, Simona, Baldinotti, Fulvia, Caligo, Maria Adelaide, Kaufmann, Martin, Jones, Glenville, Marcocci, Claudio, Cetani, Filomena

Volltext

Premature ovarian failure and fragile X premutation: a study on 45 women von Bussani, Cecilia, Papi, Laura, Sestini, Roberta, Baldinotti, Fulvia, Bucciantini, Sandra, Bruni, Vincenzina, Scarselli, Gianfranco

Volltext

Do the Heterozygous Carriers of a CYP24A1 Mutation Display a Different Biochemical Phenotype Than Wild Types? von Brancatella, Alessandro, Cappellani, Daniele, Kaufmann, Martin, Borsari, Simona, Piaggi, Paolo, Baldinotti, Fulvia, Caligo, Maria Adelaide, Jones, Glenville, Marcocci, Claudio, Cetani, Filomena

Volltext

Convergent pathological and ultrasound features in hereditary syndromic and non‐syndromic minifascicular neuropathy related to DHH von Boso, Federica, Zanette, Giampietro, Baldinotti, Fulvia, Bertelloni, Silvano, Taioli, Federica, Monaco, Salvatore, Fabrizi, Gian Maria, Cavallaro, Tiziana

Volltext

In Tandem Intragenic Duplication of Doublesex and Mab-3-Related Transcription Factor 1 ( DMRT1 ) in an SRY -Negative Boy with a 46,XX Disorder of Sex Development von Bertini, Veronica, Baldinotti, Fulvia, Parma, Pietro, Tyutyusheva, Nina, Sepich, Margherita, Bertolucci, Giulia, Rosano, Camillo, Caligo, Maria Adelaide, Peroni, Diego, Valetto, Angelo, Bertelloni, Silvano

Volltext

Surface Rendering of External Genitalia of a Fetus at the 32nd Week of Gestation Affected by Partial Androgen Insensitivity Syndrome von Mazza, Vincenzo, Bertucci, Emma, Latella, Silvia, Cani, Carlotta, Ceccarelli, Pierluca, Iughetti, Lorenzo, Baldinotti, Fulvia, Percesepe, Antonio

Volltext

In Tandem Intragenic Duplication of Doublesex and Mab-3-Related Transcription Factor 1 in an ISRY/I-Negative Boy with a 46,XX Disorder of Sex Development von Be, Baldinotti, Fulvia, Parma, Pietro, Tyutyusheva, Nina, Sepich, Margherita, Bertolucci, Giulia, Rosano, Camillo, Caligo, Maria Adelaide, Peroni, Diego, Valetto, Angelo, Bertelloni, Silvano

Volltext

Novel Familial Variant of the Desert Hedgehog Gene: Clinical Findings in Two Sisters with 46,XY Gonadal Dysgenesis or 46,XX Karyotype and Literature Review von Baldinotti, Fulvia, Cavallaro, Tiziana, Dati, Eleonora, Baroncelli, Giampiero I., Bertini, Veronica, Valetto, Angelo, Massart, Francesco, Fabrizi, Gian Maria, Zanette, Giampietro, Peroni, Diego, Bertelloni, Silvano

Volltext

Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS): A Gender Perspective von Orsucci, Daniele, Lorenzetti, Lucia, Baldinotti, Fulvia, Rossi, Andrea, Vitolo, Edoardo, Gheri, Fabio Luigi, Napolitano, Alessandro, Tintori, Giancarlo, Vista, Marco

Volltext

Paternity in 5[alpha]-Reductase-2 Deficiency: Report of Two Brothers with Spontaneous or Assisted Fertility and Literature Review von Bertelloni, Silvano, Baldinotti, Fulvia, Baroncelli, Giampiero I, Caligo, Maria A, Peroni, Diego

Volltext

Alterations of Fas (APO-1/CD 95) gene and its relationship with p53 in non small cell lung cancer von BOLDRINI, Laura, FAVIANA, Pinuccia, SIMI, Paolo, BASOLO, Fulvio, FONTANINI, Gabriella, PISTOLESI, Francesca, GISFREDI, Silvia, DI QUIRICO, Dagmar, LUCCHI, Marco, MUSSI, Alfredo, ANGELETTI, Carlo Alberto, BALDINOTTI, Fulvia, FOGLI, Antonella

Volltext

NR5A1 Gene Variants: Variable Phenotypes, New Variants, Different Outcomes von Faienza, Maria F., Chiarito, Mariangela, Baldinotti, Fulvia, Canale, Domenico, Savino, Carmela, Paradies, Guglielmo, Corica, Domenico, Romeo, Carmelo, Tyutyusheva, Nina, Caligo, Maria A., Wasniewska, Malgorzata G., Bertelloni, Silvano

Volltext

Adolescent Gynecomastia due to Minimal Androgen Resistance Syndrome: A Case Report and Literature Review von Fiorini, Aureliano, Sepich, Margherita, Pontrelli, Margherita, Sangriso, Giorgio, Cosci o Di Coscio, Mirna, Lauletta, Marcella, Baldinotti, Fulvia, Peroni, Diego, Ambrosio, Maria Rosaria, Bertelloni, Silvano

Volltext

Paternity in 5α-Reductase-2 Deficiency: Report of Two Brothers with Spontaneous or Assisted Fertility and Literature Review von Bertelloni, Silvano, Baldinotti, Fulvia, Baroncelli, Giampiero I., Caligo, Maria A., Peroni, Diego

Volltext

Electrodiagnostic evidence of phrenic nerve demyelination in Charcot-Marie-Tooth disease 1A von SAGLIOCCO, Laura, ORLANDI, Giovanni, CALABRESE, Rosa, PELLEGRINETTI, Alberto, BAGLINI, Ornella, CASTELLI, Francesca, BALDINOTTI, Fulvia, SARTUCCI, Ferdinando

Volltext