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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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Journal Article
45,X/46,XY ovotesticular disorder of sex development revisited: undifferentiated gonadal tissue may be mistaken as ovarian tissue
Andrade, Juliana Gabriel Ribeiro de, Andrade, Liliana Aparecida Lucci De Angelo, Guerra-Junior, Gil, Maciel-Guerra, Andréa Trevas
Published in Journal of Pediatric Endocrinology & Metabolism (28.08.2017)
Published in Journal of Pediatric Endocrinology & Metabolism (28.08.2017)
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Journal Article
SOX3 duplication in a boy with 46,XX ovotesticular disorder of sex development and his 46,XX sister with atypical genitalia: Probable germline mosaicism
Oliveira, Flávia Marcorin, Barros, Beatriz Amstalden, Santos, Ana Paula, Campos, Nilma Lúcia Viguetti, Mazzola, Taís Nitsch, Filho, Paulo Latuf, Andrade, Liliana Aparecida Lucci De Angelo, Guaragna, Mara Sanches, Mello, Maricilda Palandi, Guerra‐Junior, Gil, Vieira, Társis Antonio Paiva, Maciel‐Guerra, Andréa Trevas
Published in American journal of medical genetics. Part A (01.02.2023)
Published in American journal of medical genetics. Part A (01.02.2023)
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Journal Article
Recognition of 5α-reductase-2 deficiency in an adult female 46XY DSD clinic
Berra, Marta, Williams, Emma L, Muroni, Barbara, Creighton, Sarah M, Honour, John W, Rumsby, Gill, Conway, Gerard S
Published in European journal of endocrinology (01.06.2011)
Published in European journal of endocrinology (01.06.2011)
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Journal Article
A case‐control study of brain structure and behavioral characteristics in 47,XXX syndrome
Lenroot, R. K., Blumenthal, J. D., Wallace, G. L., Clasen, L. S., Lee, N. R., Giedd, J. N.
Published in Genes, brain and behavior (01.11.2014)
Published in Genes, brain and behavior (01.11.2014)
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Journal Article
Could androgen receptor gene CAG tract polymorphism affect spermatogenesis in men with idiopathic infertility?
Giagulli, V. A., Carbone, M. D., De Pergola, G., Guastamacchia, E., Resta, F., Licchelli, B., Sabbà, C., Triggiani, V.
Published in Journal of assisted reproduction and genetics (01.06.2014)
Published in Journal of assisted reproduction and genetics (01.06.2014)
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Journal Article
Varicocele and male infertility in Northeast China: Y chromosome microdeletion as an underlying cause
Dai, R.L., Hou, Y., Li, F.B., Yue, J.M., Xi, Q., Liu, R.Z.
Published in Genetics and molecular research (12.06.2015)
Published in Genetics and molecular research (12.06.2015)
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Journal Article
Sex chromosome abnormalities and sterility in river buffalo
Di Meo, G.P., Perucatti, A., Di Palo, R., Iannuzzi, A., Ciotola, F., Peretti, V., Neglia, G., Campanile, G., Zicarelli, L., Iannuzzi, L.
Published in Cytogenetic and Genome Research (01.05.2008)
Published in Cytogenetic and Genome Research (01.05.2008)
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Journal Article
XX SRY-Negative True Hermaphrodism in Two Dogs: Clinical, Morphological, Genetic and Cytogenetic Studies
Groppetti, D., Genualdo, V., Bosi, G., Pecile, A., Iannuzzi, A., Perucatti, A., De Lorenzi, L., Parma, P., Arrighi, S.
Published in Sexual development (01.01.2012)
Published in Sexual development (01.01.2012)
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Journal Article
Phenotypic variability in 17beta-hydroxysteroid dehydrogenase-3 deficiency and diagnostic pitfalls
Lee, Yung Seng, Kirk, Jeremy M W, Stanhope, Richard G, Johnston, Derek I, Harland, Sharon, Auchus, Richard J, Andersson, Stefan, Hughes, Ieuan A
Published in Clinical endocrinology (Oxford) (01.07.2007)
Published in Clinical endocrinology (Oxford) (01.07.2007)
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Journal Article
Gynandromorphs in mosquitoes (Diptera: Culicidae) from Valle del Cauca, Colombia
Barreto, Mauricio(Universidad del Valle Facultad de Salud Depto. Microbiología), Burbano, María E.(Universidad del Valle Facultad de Salud Depto. Microbiología), Barreto, Pablo(Universidad del Valle Facultad de Salud Depto. Microbiología)
Published in Neotropical entomology (01.06.2008)
Published in Neotropical entomology (01.06.2008)
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Journal Article
Molecular diagnosis of 5alpha-reductase-2 gene mutation in two Indian families with male pseudohermaphroditism
Eunice, Marumudi, Philibert, Pascal, Kulshreshtha, Bindu, Audran, Francoise, Paris, Francoise, Khurana, Madan L, Pulikkanath, Praveen E, Kucheria, Kiran, Sultan, Charles, Ammini, Ariachery C
Published in Asian journal of andrology (01.09.2008)
Published in Asian journal of andrology (01.09.2008)
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Journal Article
Molecular characterization of 6 unrelated Italian patients with 5alpha-reductase type 2 deficiency
Baldinotti, F, Majore, S, Fogli, A, Marrocco, G, Ghirri, P, Vuerich, M, Tumini, S, Boscherini, B, Vetri, M, Scommegna, S, Rinaldi, R, Simi, P, Grammatico, P
Published in Journal of andrology (01.01.2008)
Published in Journal of andrology (01.01.2008)
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Journal Article
True Hermaphrodites in the Southeastern Region of Brazil: A Different Cytogenetic and Gonadal Profile
Guerra Jr, G., Palandi de Mello, M., Godoy Assumpção, J., Morcillo, A.M., Valente de Lemos Marini, S.H., Paiva E. Silva, R.B., Marques-de-Faria, A.P., Maciel-Guerra, A.T.
Published in Journal of Pediatric Endocrinology and Metabolism (01.07.1998)
Published in Journal of Pediatric Endocrinology and Metabolism (01.07.1998)
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Journal Article
A clinician looks at androgen resistance
Balducci, Rina, Ghirri, Paolo, Brown, Terry R., Bradford, Shayne, Boldrini, Antonio, Boscherini, Brunetto, Sciarra, Francesco, Toscano, Vincenzo
Published in Steroids (01.04.1996)
Published in Steroids (01.04.1996)
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Journal Article
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