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Incidence, Prevalence, Diagnostic Delay, and Clinical Presentation of Female 46,XY Disorders of Sex Development
Berglund, Agnethe, Johannsen, Trine H., Stochholm, Kirstine, Viuff, Mette H., Fedder, Jens, Main, Katharina M., Gravholt, Claus H.
Published in The journal of clinical endocrinology and metabolism (01.12.2016)
Published in The journal of clinical endocrinology and metabolism (01.12.2016)
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Journal Article
THU210 A Single-center Retrospective Study Of Brazilian Subjects With Differences In Sex Development (DSD) From Infancy To Adulthood
Batista, Rafael Loch, Almeida Gomes, Nathalia Lisboa Rosa, Bachega, Tania A, Madureira, Guiomar, de Miranda, Mirela Costa, Thomazini Dallago, Renata T Dallago, Martins Ferrari, Maria Tereza, Lousada, Lia Mesquita, Craveiro, Flora Ladeira, Pereira Batatinha, Júlio Américo, Cunha Scalco, Renata Da, Frade Costa, Elaine Maria, Sircili, Maria Helena P, Denes, Francisco T, Inacio, Marlene, Nishi, Mirian Yumie, Domenice, Sorahia, Mendonca, Berenice Bilharinho
Published in Journal of the Endocrine Society (05.10.2023)
Published in Journal of the Endocrine Society (05.10.2023)
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Journal Article
Clinical and genetic characteristics of a large international cohort of individuals with rare NR5A1/SF-1 variants of sex development
Kouri, Chrysanthi, Sommer, Grit, Martinez de Lapiscina, Idoia, Elzenaty, Rawda Naamneh, Tack, Lloyd J.W., Cools, Martine, Ahmed, S. Faisal, Flück, Christa E., Abali, Saygin, Abali, Zehra Yavas, Akin, Leyla, Almaraz, Maricruz, Audí, Laura, Aydin, Murat, Balsamo, Antonio, Baronio, Federico, Bryce, Jillian, Busiah, Kanetee, Caimari, Maria, Camats-Tarruella, Núria, Campos-Martorell, Ariadna, Castaño, Luis, Casteràs, Anna, Çetinkaya, Semra, Chan, Yee-Ming, Claahsen-van der Grinten, Hedi L., Costa, Ines, Darendeliler, Fatma Feyza, Davies, Justin H., Esteva, Isabel, Fabbri-Scallet, Helena, Finlayson, Courtney A., Garcia, Emilio, Garcia Cuartero, Beatriz, German, Alina, Globa, Evgenia, Guerra-Junior, Gil, Guerrero, Julio, Guran, Tulay, Hannema, Sabine E., Hiort, Olaf, Hirsch, Josephine, Hughes, Leuan, Janner, Marco, Kolesinska, Zofia, Lachlan, Katherine, Lauber-Biason, Anna, Malikova, Jana Krenek, l'Allemand, Dagmar, Lenhnerr-Taube, Nina, Lucas-Herald, Angela, Mammadova, Jamala, MсElreavey, Kenneth, Mericq, Veronica, Mönig, Isabel, Moreno, Francisca, Mührer, Julia, Niedziela, Marek, Nordenstrom, Anna, Orman, Burçe, Poyrazoglu, Sukran, Rial, Jose M., Rutter, Meilan M., Rodríguez, Amaia, Schafer-Kalkhoff, Tara, Sauter, Kay-Sara, Seneviratne, Sumudu Nimali, Sredkova-Ruskova, Maria, Tadokoro-Cuccaro, Rieko, Thankamony, Ajay, Tomé, Mónica, Vela, Amaia, Wasniewska, Malgorzata, Zangen, David, Zelinska, Nataliya
Published in EBioMedicine (01.01.2024)
Published in EBioMedicine (01.01.2024)
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Journal Article
46,XY disorder of sex development (DSD) due to 17β-hydroxysteroid dehydrogenase type 3 deficiency
Mendonca, Berenice B., Gomes, Nathalia Lisboa, Costa, Elaine M.F., Inacio, Marlene, Martin, Regina M., Nishi, Mirian Y., Carvalho, Filomena Marino, Tibor, Francisco Denes, Domenice, Sorahia
Published in The Journal of steroid biochemistry and molecular biology (01.01.2017)
Published in The Journal of steroid biochemistry and molecular biology (01.01.2017)
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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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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
Elevated plasma miR‐210 expression is associated with atypical genitalia in patients with 46,XY differences in sex development
Elias, Felipe Martins, Nishi, Mirian Yumi, Sircili, Maria Helena Palma, Bastista, Rafael Loch, Gomes, Nathalia Lisboa, Ferrari, Maria Tereza Martins, Costa, Elaine Maria Frade, Denes, Francisco Tibor, Mendonca, Berenice Bilharinho, Domenice, Sorahia
Published in Molecular genetics & genomic medicine (01.12.2022)
Published in Molecular genetics & genomic medicine (01.12.2022)
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Journal Article
Duplication of SOX9 associated with 46,XX ovotesticular disorder of sex development
López-Hernández, Berenice, Méndez, Juan Pablo, Coral-Vázquez, Ramón Mauricio, Benítez-Granados, Jesús, Zenteno, Juan Carlos, Villegas-Ruiz, Vanessa, Calzada-León, Raúl, Soderlund, Daniela, Canto, Patricia
Published in Reproductive biomedicine online (01.07.2018)
Published in Reproductive biomedicine online (01.07.2018)
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Journal Article
Novel compound heterozygous variants in the LHCGR gene identified in a subject with Leydig cell hypoplasia type 1
Xu, Yufei, Chen, Yulin, Li, Niu, Hu, Xuyun, Li, Guoqiang, Ding, Yu, Li, Juan, Shen, Yiping, Wang, Xiumin, Wang, Jian
Published in Journal of Pediatric Endocrinology & Metabolism (01.02.2018)
Published in Journal of Pediatric Endocrinology & Metabolism (01.02.2018)
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Journal Article
Genetic reanalysis of patients with a difference of sex development carrying the NR5A1/SF-1 variant p.Gly146Ala has discovered other likely disease-causing variations
Martinez de Lapiscina, Idoia, Kouri, Chrysanthi, Aurrekoetxea, Josu, Sanchez, Mirian, Naamneh Elzenaty, Rawda, Sauter, Kay-Sara, Camats, Núria, Grau, Gema, Rica, Itxaso, Rodriguez, Amaia, Vela, Amaia, Cortazar, Alicia, Alonso-Cerezo, Maria Concepción, Bahillo, Pilar, Bertholt, Laura, Esteva, Isabel, Castaño, Luis, Flück, Christa E.
Published in PloS one (11.07.2023)
Published in PloS one (11.07.2023)
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Journal Article
XY (SRY-positive) Ovarian Disorder of Sex Development in Cattle
De Lorenzi, Lisa, Arrighi, Silvana, Rossi, Elena, Grignani, Pierangela, Previderè, Carlo, Bonacina, Stefania, Cremonesi, Fausto, Parma, Pietro
Published in Sexual development (01.01.2018)
Published in Sexual development (01.01.2018)
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Journal Article
Detection of Molecular Variations at Androgen Receptor Gene in 46,XY Differences in Sex Development Cases
Marzuki, Nanis S., Kartapradja, Hannie D., Coutrier, Farah N., Wahyudi, Irfan, Batubara, Jose R.L.
Published in Indian journal of endocrinology and metabolism (01.03.2024)
Published in Indian journal of endocrinology and metabolism (01.03.2024)
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Journal Article
Ovotesticular disorder of sex development in a 46 XY adolescent: a rare case report with review of the literature
Bbs, Koui, Ad, Abouna, Djiwa, Toukilnan, B, Traore, M, Kouyate, Ke, Kouame, Na, Aman
Published in BMC women's health (24.10.2023)
Published in BMC women's health (24.10.2023)
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Journal Article
Emotional and behavioral problems in late-identified Indonesian patients with disorders of sex development
Ediati, Annastasia, Faradz, Sultana M.H., Juniarto, Achmad Zulfa, van der Ende, Jan, Drop, Stenvert L.S., Dessens, Arianne B.
Published in Journal of psychosomatic research (01.07.2015)
Published in Journal of psychosomatic research (01.07.2015)
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Journal Article
Case Report: Severe Gonadal Dysgenesis Causing 46,XY Disorder of Sex Development Due to a Novel NR5A1 Variant
Alhamoudi, Kheloud M., Alghamdi, Balgees, Aljomaiah, Abeer, Alswailem, Meshael, Al-Hindi, Hindi, Alzahrani, Ali S.
Published in Frontiers in genetics (05.07.2022)
Published in Frontiers in genetics (05.07.2022)
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Journal Article
Development and evaluation of a patient education programme for children, adolescents, and young adults with differences of sex development (DSD) and their parents: study protocol of Empower-DSD
Wiegmann, Sabine, Ernst, Martina, Ihme, Loretta, Wechsung, Katja, Kalender, Ute, Stöckigt, Barbara, Richter-Unruh, Annette, Vögler, Sander, Hiort, Olaf, Jürgensen, Martina, Marshall, Louise, Menrath, Ingo, Schneidewind, Julia, Wagner, Isabel, Rohayem, Julia, Liesenkötter, Klaus-Peter, Wabitsch, Martin, Fuchs, Malaika, Herrmann, Gloria, Lutter, Henriette, Ernst, Gundula, Lehmann, Christine, Haase, Martina, Roll, Stephanie, Schilling, Ralph, Keil, Thomas, Neumann, Uta
Published in BMC endocrine disorders (27.06.2022)
Published in BMC endocrine disorders (27.06.2022)
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Journal Article
Loss-of-function mutation in GATA4 causes anomalies of human testicular development
Lourenço, Diana, Brauner, Raja, Rybczyńska, Magda, Nihoul-Fékété, Claire, McElreavey, Ken, Bashamboo, Anu
Published in Proceedings of the National Academy of Sciences - PNAS (25.01.2011)
Published in Proceedings of the National Academy of Sciences - PNAS (25.01.2011)
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Journal Article
Emerging issues in disorders/differences of sex development (DSD)
Adam, Margaret P., Vilain, Eric
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.06.2017)
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.06.2017)
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Journal Article