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Mutation of c.244GT in NR5A1 gene causing 46, XY DSD by affecting RNA splicing
Yu, Bingqing, Gao, Yinjie, Mao, Jiangfeng, Wang, Xi, Nie, Min, Wu, Xueyan
Published in Orphanet journal of rare diseases (30.08.2021)
Published in Orphanet journal of rare diseases (30.08.2021)
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Journal Article
Mutation of c.244G>T in NR5A1 gene causing 46, XY DSD by affecting RNA splicing
Yu, Bingqing, Gao, Yinjie, Mao, Jiangfeng, Wang, Xi, Nie, Min, Wu, Xueyan
Published in Orphanet journal of rare diseases (30.08.2021)
Published in Orphanet journal of rare diseases (30.08.2021)
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Journal Article
Long-term outcome of gender assignment in individuals with 46, XY DSD assigned female sex in multicultural society
Neeman, Binyamin B., Jaber, Jawdat, Kocherov, Stanislav, Levy-Khademi, Floris, Farkas, Amicur, Chertin, Boris
Published in Journal of pediatric urology (01.10.2024)
Published in Journal of pediatric urology (01.10.2024)
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Journal Article
Variants in 46,XY DSD-Related Genes in Syndromic and Non-Syndromic Small for Gestational Age Children with Hypospadias
Leitao Braga, Barbara, Lisboa Gomes, Nathalia, Nishi, Mirian Y., Freire, Bruna L., Batista, Rafael L., D. Faria Junior, Jose A., Funari, Mariana F.A., Figueredo Benedetti, Anna F., de Moraes Narcizo, Amanda, Cavalca Cardoso, Lais, Lerario, Antonio M., Guerra-Junior, Gil, Frade Costa, Elaine M., Domenice, Sorahia, Jorge, Alexander A.L., Mendonca, Berenice B.
Published in Sexual development (01.01.2022)
Published in Sexual development (01.01.2022)
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Journal Article
Diagnostic accuracy of human chorionic gonadotropins (HCG) stimulation test in XY-disorders of sex development (XY-DSD) presented in Armed Forces Institute of Pathology
Sheikh, Waqas Hanif, Asif, Naveed, Haroon, Zujaja Hina, Ejaz, Aamir, Ain, Qural Ul, Shehzad, Noreen
Published in Journal of the Pakistan Medical Association (01.08.2019)
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Published in Journal of the Pakistan Medical Association (01.08.2019)
Journal Article
Two New Heterozygous SF-1 Gene Mutations in Two Unrelated Families: Within-Family Phenotypic Variability during Long-Term Follow-Up in 46,XY DSD Subjects and Low Ovarian Reserve in Fertile 46,XX Subjects
Warman, M., Costanzo, M., Marino, R., Ciaccio, M., Ramirez, P., Maceiras, M., Chaler, E.
Published in Hormone research in paediatrics (01.07.2011)
Published in Hormone research in paediatrics (01.07.2011)
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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
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
Growth Pattern in Chinese Children With 5α-Reductase Type 2 Deficiency: A Retrospective Multicenter Study
Zhao, Xiu, Song, Yanning, Chen, Shaoke, Wang, Xiumin, Luo, Feihong, Yang, Yu, Chen, Linqi, Chen, Ruimin, Chen, Hui, Su, Zhe, Wu, Di, Gong, Chunxiu
Published in Frontiers in pharmacology (15.03.2019)
Published in Frontiers in pharmacology (15.03.2019)
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Journal Article
Mutational analysis of compound heterozygous mutation p.Q6X/p.H232R in SRD5A2 causing 46,XY disorder of sex development
Li, Liwei, Zhang, Junhong, Li, Qing, Qiao, Li, Li, Pengcheng, Cui, Yi, Li, Shujun, Hao, Shirui, Wu, Tongqian, Liu, Lili, Yin, Jianmin, Hu, Pingsheng, Dou, Xiaowei, Li, Shuping, Yang, Hui
Published in Italian journal of pediatrics (24.03.2022)
Published in Italian journal of pediatrics (24.03.2022)
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Journal Article
Physical and Reported Subjective Health Status in 222 Individuals with XY Disorder of Sex Development
Gong, Xin Li, Raile, Klemens, Slowikowska-Hilczer, Jolanta, Pienkowski, Catherine, Quinkler, Marcus, Roehle, Robert, Nordenström, Anna, Neumann, Uta
Published in Journal of the Endocrine Society (01.08.2021)
Published in Journal of the Endocrine Society (01.08.2021)
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Journal Article
The importance of the multiplex ligation-dependent probe amplification in the identification of a novel two-exon deletion of the NR5A1 gene in a patient with 46,XY differences of sex development
Nagy, Orsolya, Kárteszi, Judit, Hartwig, Marianna, Bertalan, Rita, Jávorszky, Eszter, Erhardt, Éva, Patócs, Attila, Tornóczky, Tamás, Balogh, István, Ujfalusi, Anikó
Published in Molecular biology reports (01.10.2019)
Published in Molecular biology reports (01.10.2019)
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Journal Article
Loss of DMRT1 gene in a Mos 45,XY,-9[8]/46,XY,r(9)[29]/47,XY,+idic r(9)× 2[1]/46,XY,idic r(9)[1]/46,XY[1] female presenting with short stature
Marsudi, Bagas A., Kartapradja, Hannie, Paramayuda, Chrysantine, Batubara, Jose R. L., Harahap, Alida R., Marzuki, Nanis S.
Published in Molecular cytogenetics (08.05.2018)
Published in Molecular cytogenetics (08.05.2018)
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Journal Article
Molecular Analysis of the SRD5A2 in 46,XY Subjects With Incomplete Virilization: The P212R Substitution of the Steroid 5α‐Reductase 2 May Constitute an Ancestral Founder Mutation in Mexican Patients
Vilchis, Felipe, Ramos, Luis, Méndez, Juan Pablo, Benavides, Socorro, Canto, Patricia, Chávez, Bertha
Published in Journal of andrology (01.07.2010)
Published in Journal of andrology (01.07.2010)
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Journal Article
A novel mutation of anti-Mullerian hormone gene in Persistent Mullerian Duct Syndrome presented with bilateral cryptorchidism: A case report
Wongprasert, H., Somanunt, S., De Filippo, R., Picard, J.Y., Pitukcheewanont, P.
Published in Journal of pediatric urology (01.08.2013)
Published in Journal of pediatric urology (01.08.2013)
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Journal Article
Chapter 3K - 46,XY DSD due to 17β-Hydroxysteroid Dehydrogenase 3 Deficiency
Mendonca, Berenice B., Costa, Elaine M.F., Inacio, Marlene, Oliveira Junior, Ari A., Martin, Regina M., Nishi, Mirian Y., Machado, Aline Z., Carvalho, Filomena Marino, Tibor, Francisco Denes, Domenice, Sorahia
Published in Genetic Steroid Disorders (2014)
Published in Genetic Steroid Disorders (2014)
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Book Chapter
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
Novel Heterozygous Mutations of NR5A1 and Their Functional Characteristics in Patients with 46,XY Disorders of Sex Development without Adrenal Insufficiency
Woo, Kyu Ha, Cheon, Buwon, Kim, Ja Hye, Cho, Jahyang, Kim, Gu-Hwan, Yoo, Han-Wook, Choi, Jin-Ho
Published in Hormone research in paediatrics (01.01.2015)
Published in Hormone research in paediatrics (01.01.2015)
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Journal Article