Three novel IGF1R mutations in microcephalic patients with prenatal and postnatal growth impairment
Juanes, Matias, Guercio, Gabriela, Marino, Roxana, Berensztein, Esperanza, Warman, Diana Mónica, Ciaccio, Marta, Gil, Silvia, Bailez, Marcela, Rivarola, Marco A., Belgorosky, Alicia
Published in Clinical endocrinology (Oxford) (01.05.2015)
Published in Clinical endocrinology (Oxford) (01.05.2015)
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Androgen Insensitivity Syndrome at Prepuberty: Marked Loss of Spermatogonial Cells at Early Childhood and Presence of Gonocytes up to Puberty
Aliberti, Paula, Perez Garrido, Natalia, Marino, Roxana, Ramirez, Pablo, Solari, Alberto J., Sciurano, Roberta, Costanzo, Mariana, Guercio, Gabriela, Warman, Diana Mónica, Bailez, Marcela, Baquedano, María Sonia, Rivarola, Marco A, Belgorosky, Alicia, Berensztein, Esperanza
Published in Sexual development (01.01.2017)
Published in Sexual development (01.01.2017)
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Journal Article
Two Novel Mutations of the TSH-β Subunit Gene Underlying Congenital Central Hypothyroidism Undetectable in Neonatal TSH Screening
Baquedano, María Sonia, Ciaccio, Marta, Dujovne, Noelia, Herzovich, Viviana, Longueira, Yesica, Warman, Diana Monica, Rivarola, Marco A., Belgorosky, Alicia
Published in The journal of clinical endocrinology and metabolism (01.09.2010)
Published in The journal of clinical endocrinology and metabolism (01.09.2010)
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Journal Article
Three New SF-1 (NR5A1) Gene Mutations in Two Unrelated Families with Multiple Affected Members: Within-Family Variability in 46,XY Subjects and Low Ovarian Reserve in Fertile 46,XX Subjects
Warman, Diana Monica, Costanzo, Mariana, Marino, Roxana, Berensztein, Esperanza, Galeano, Jesica, Ramirez, Pablo C., Saraco, Nora, Baquedano, Maria Sonia, Ciaccio, Marta, Guercio, Gabriela, Chaler, Eduardo, Maceiras, Mercedes, Lazzatti, Juan Manuel, Bailez, Marcela, Rivarola, Marco A., Belgorosky, Alicia
Published in Hormone research in paediatrics (01.01.2011)
Published in Hormone research in paediatrics (01.01.2011)
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Preserved Fertility in a Patient with a 46,XY Disorder of Sex Development due to a New Heterozygous Mutation in the NR5A1/SF-1 Gene: Evidence of 46,XY and 46,XX Gonadal Dysgenesis Phenotype Variability in Multiple Members of an Affected Kindred
Ciaccio, Marta, Costanzo, Mariana, Guercio, Gabriela, De Dona, Valeria, Marino, Roxana, Ramirez, Pablo C., Galeano, Jessica, Warman, Diana Monica, Berensztein, Esperanza, Saraco, Nora, Baquedano, Maria Sonia, Chaler, Eduardo, Maceiras, Mercedes, Lazzatti, Juan Manuel, Rivarola, Marco A., Belgorosky, Alicia
Published in Hormone research in paediatrics (01.09.2012)
Published in Hormone research in paediatrics (01.09.2012)
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