Mutational screening of NR5A1 gene encoding steroidogenic factor 1 in cryptorchidism and male factor infertility and functional analysis of seven undescribed mutations von Ferlin, Alberto, Ph.D, Rocca, Maria Santa, B.Sc, Vinanzi, Cinzia, B.Sc, Ghezzi, Marco, M.D, Di Nisio, Andrea, Ph.D, Foresta, Carlo, M.D

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Toward a pharmacogenetic approach to male infertility: polymorphism of follicle-stimulating hormone beta-subunit promoter von Ferlin, Alberto, Ph.D, Vinanzi, Cinzia, B.Sc, Selice, Riccardo, M.D, Garolla, Andrea, Ph.D, Frigo, Anna Chiara, Ph.D, Foresta, Carlo, M.D

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A novel genetic variant in DNAI2 detected by custom gene panel in a newborn with Primary Ciliary Dyskinesia: case report von Rocca, Maria Santa, Piatti, Gioia, Michelucci, Angela, Guazzo, Raffaella, Bertini, Veronica, Vinanzi, Cinzia, Caligo, Maria Adelaide, Valetto, Angelo, Foresta, Carlo

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Is there any clinical relevant difference between non mosaic Klinefelter Syndrome patients with or without Androgen Receptor variations? von Valente, Umberto, Vinanzi, Cinzia, Dipresa, Savina, Selice, Riccardo, Menegazzo, Massimo, Iafrate, Massimo, Foresta, Carlo, Garolla, Andrea

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Identification of a novel mutation in exon 1 of androgen receptor gene in an azoospermic patient with mild androgen insensitivity syndrome: case report and literature review von Goglia, Umberto, M.D., Ph.D, Vinanzi, Cinzia, Ph.D, Zuccarello, Daniela, M.D., Ph.D, Malpassi, Davide, M.D, Ameri, Pietro, M.D, Casu, Massimo, M.D, Minuto, Francesco, M.D, Foresta, Carlo, M.D, Ferone, Diego, M.D., Ph.D

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Comparison of NGS panel and Sanger sequencing for genotyping CAG repeats in the AR gene von Rocca, Maria Santa, Ferrarini, Margherita, Msaki, Aichi, Vinanzi, Cinzia, Ghezzi, Marco, De Rocco Ponce, Maurizio, Foresta, Carlo, Ferlin, Alberto

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Androgen receptor gene CAG and GGC repeat lengths in cryptorchidism von Ferlin, Alberto, Garolla, Andrea, Bettella, Andrea, Bartoloni, Lucia, Vinanzi, Cinzia, Roverato, Alberto, Foresta, Carlo

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A cryptozoospermic infertile male with Y chromosome AZFc microdeletion and low FSH levels due to a simultaneous polymorphism in the FSHB gene: a case report von Graziani, Andrea, Merico, Maurizio, Grande, Giuseppe, Di Mambro, Antonella, Vinanzi, Cinzia, Rocca, Maria Santa, Selice, Riccardo, Ferlin, Alberto

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Mutational Screening of Androgen Receptor Gene in 8224 Men of Infertile Couples von Rocca, Maria Santa, Minervini, Giovanni, Vinanzi, Cinzia, Bottacin, Alberto, Lia, Federica, Foresta, Carlo, Pennuto, Maria, Ferlin, Alberto

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Genetic Causes of Qualitative Sperm Defects: A Narrative Review of Clinical Evidence von Graziani, Andrea, Rocca, Maria Santa, Vinanzi, Cinzia, Masi, Giulia, Grande, Giuseppe, De Toni, Luca, Ferlin, Alberto

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Study of novel androgen receptor V770 variant in androgen insensitivity syndrome patients reveals the transitional state of the androgen receptor ligand binding domain homodimer von Helsen, Christine, Santa Rocca, Maria, Nguyen, Tien T, Eerlings, Roy, Lee, Xiao Yin, De Block, Sofie, Vinanzi, Cinzia, Di Millo, Francesco, Giagulli, Vito, Voet, Arnout, Ferlin, Alberto, Claessens, Frank

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Study of novel androgen receptor V770 variant in androgen insensitivity syndrome patients reveals the transitional state of the androgen receptor ligand binding domain homodimer von Helsen, Christine, Rocca, Maria Santa, Nguyen, Tien T., Eerlings, Roy, Lee, Xiao Yin, De Block, Sofie, Vinanzi, Cinzia, Di Millo, Francesco, Giagulli, Vito, Voet, Arnout, Ferlin, Alberto, Claessens, Frank

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Male infertility and androgen receptor gene mutations: clinical features and identification of seven novel mutations von Ferlin, Alberto, Vinanzi, Cinzia, Garolla, Andrea, Selice, Riccardo, Zuccarello, Daniela, Cazzadore, Carla, Foresta, Carlo

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Bone Mass in Subjects with Klinefelter Syndrome: Role of Testosterone Levels and Androgen Receptor Gene CAG Polymorphism von Ferlin, Alberto, Schipilliti, Mirko, Vinanzi, Cinzia, Garolla, Andrea, Di Mambro, Antonella, Selice, Riccardo, Lenzi, Andrea, Foresta, Carlo

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Insulin-Like Factor 3: A Novel Circulating Hormone of Testis Origin in Humans von Foresta, Carlo, Bettella, Andrea, Vinanzi, Cinzia, Dabrilli, Paolo, Meriggiola, Maria Cristina, Garolla, Andrea, Ferlin, Alberto

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A Novel Circulating Hormone of Testis Origin in Humans von Foresta, Carlo, Bettella, Andrea, Vinanzi, Cinzia, Dabrilli, Paolo, Meriggiola, Maria Cristina, Garolla, Andrea, Ferlin, Alberto

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Mutations in INSL3 and RXFP2 Genes in Cryptorchid Boys von Ferlin, Alberto, Zuccarello, Daniela, Garolla, Andrea, Selice, Riccardo, Vinanzi, Cinzia, Ganz, Francesco, Zanon, Gian Franco, Zuccarello, Biagio, Foresta, Carlo

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Relationship Between Vascular Damage Degrees and Endothelial Progenitor Cells in Patients with Erectile Dysfunction: Effect of Vardenafil Administration and PDE5 Expression in the... von Foresta, Carlo, Caretta, Nicola, Lana, Andrea, De Toni, Luca, Biagioli, Andrea, Vinanzi, Cinzia, Ferlin, Alberto

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Somatic mosaicism in von Hippel-Lindau disease von Murgia, Alessandra, Martella, Maddalena, Vinanzi, Cinzia, Polli, Roberta, Perilongo, Giorgio, Opocher, Giuseppe

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ORIGINAL ARTICLE: Male infertility and androgen receptor gene mutations: clinical features and identification of seven novel mutations von Ferlin, Alberto, Vinanzi, Cinzia, Garolla, Andrea, Selice, Riccardo, Zuccarello, Daniela, Cazzadore, Carla, esta, Carlo

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