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- [41] Inguinal hernia as a presenting feature in a phenotypic female revealed a 46XY disorder of sexual differentiation (DSD) due to a novel SF1 gene mutationHORMONE RESEARCH, 2009, 72 : 367 - 368Sinha, Sunil K.论文数: 0 引用数: 0 h-index: 0机构: Maimonides Infants & Childrens Hosp Brooklyn, Brooklyn, NY USA Suny Downstate Med Ctr, Brooklyn, NY 11203 USA Maimonides Infants & Childrens Hosp Brooklyn, Brooklyn, NY USAPhilibert, Pascal论文数: 0 引用数: 0 h-index: 0机构: CHU, Hop Lapeyronie, Serv Hormonol, Montpellier, France Maimonides Infants & Childrens Hosp Brooklyn, Brooklyn, NY USASultan, Charles论文数: 0 引用数: 0 h-index: 0机构: CHU, Hop Lapeyronie, Serv Hormonol, Montpellier, France Maimonides Infants & Childrens Hosp Brooklyn, Brooklyn, NY USATen, Svetlana论文数: 0 引用数: 0 h-index: 0机构: Maimonides Infants & Childrens Hosp Brooklyn, Brooklyn, NY USA Suny Downstate Med Ctr, Brooklyn, NY 11203 USA Maimonides Infants & Childrens Hosp Brooklyn, Brooklyn, NY USA
- [42] Novel NR5A1 mutations found in Chinese patients with 46, XY disorders of sex developmentCLINICAL ENDOCRINOLOGY, 2018, 89 (05) : 613 - 620Yu, Bingqing论文数: 0 引用数: 0 h-index: 0机构: Peking Union Med Coll Hosp, NHC Key Lab Endocrinol, Beijing, Peoples R China Chinese Acad Med Sci, Dept Endocrinol, Peking Union Med Coll Hosp, Peking Union Med Coll, Beijing, Peoples R China Peking Union Med Coll Hosp, NHC Key Lab Endocrinol, Beijing, Peoples R ChinaLiu, Zhaoxiang论文数: 0 引用数: 0 h-index: 0机构: Peking Union Med Coll Hosp, NHC Key Lab Endocrinol, Beijing, Peoples R China Chinese Acad Med Sci, Dept Endocrinol, Peking Union Med Coll Hosp, Peking Union Med Coll, Beijing, Peoples R China Peking Union Med Coll Hosp, NHC Key Lab Endocrinol, Beijing, Peoples R ChinaGao, Yinjie论文数: 0 引用数: 0 h-index: 0机构: Peking Union Med Coll Hosp, NHC Key Lab Endocrinol, Beijing, Peoples R China Chinese Acad Med Sci, Dept Endocrinol, Peking Union Med Coll Hosp, Peking Union Med Coll, Beijing, Peoples R China Peking Union Med Coll Hosp, NHC Key Lab Endocrinol, Beijing, Peoples R ChinaMao, Jiangfeng论文数: 0 引用数: 0 h-index: 0机构: Peking Union Med Coll Hosp, NHC Key Lab Endocrinol, Beijing, Peoples R China Chinese Acad Med Sci, Dept Endocrinol, Peking Union Med Coll Hosp, Peking Union Med Coll, Beijing, Peoples R China Peking Union Med Coll Hosp, NHC Key Lab Endocrinol, Beijing, Peoples R ChinaWang, Xi论文数: 0 引用数: 0 h-index: 0机构: Peking Union Med Coll Hosp, NHC Key Lab Endocrinol, Beijing, Peoples R China Chinese Acad Med Sci, Dept Endocrinol, Peking Union Med Coll Hosp, Peking Union Med Coll, Beijing, Peoples R China Peking Union Med Coll Hosp, NHC Key Lab Endocrinol, Beijing, Peoples R ChinaHao, Ming论文数: 0 引用数: 0 h-index: 0机构: Peking Union Med Coll Hosp, NHC Key Lab Endocrinol, Beijing, Peoples R China Chinese Acad Med Sci, Dept Endocrinol, Peking Union Med Coll Hosp, Peking Union Med Coll, Beijing, Peoples R China Peking Union Med Coll Hosp, NHC Key Lab Endocrinol, Beijing, Peoples R ChinaMa, Wanlu论文数: 0 引用数: 0 h-index: 0机构: Peking Union Med Coll Hosp, NHC Key Lab Endocrinol, Beijing, Peoples R China Chinese Acad Med Sci, Dept Endocrinol, Peking Union Med Coll Hosp, Peking Union Med Coll, Beijing, Peoples R China Peking Union Med Coll Hosp, NHC Key Lab Endocrinol, Beijing, Peoples R ChinaHuang, Qibin论文数: 0 引用数: 0 h-index: 0机构: Peking Union Med Coll Hosp, NHC Key Lab Endocrinol, Beijing, Peoples R China Chinese Acad Med Sci, Dept Endocrinol, Peking Union Med Coll Hosp, Peking Union Med Coll, Beijing, Peoples R China Peking Union Med Coll Hosp, NHC Key Lab Endocrinol, Beijing, Peoples R ChinaZhang, Rui论文数: 0 引用数: 0 h-index: 0机构: Peking Union Med Coll Hosp, NHC Key Lab Endocrinol, Beijing, Peoples R China Chinese Acad Med Sci, Dept Endocrinol, Peking Union Med Coll Hosp, Peking Union Med Coll, Beijing, Peoples R China Peking Union Med Coll Hosp, NHC Key Lab Endocrinol, Beijing, Peoples R ChinaNie, Min论文数: 0 引用数: 0 h-index: 0机构: Peking Union Med Coll Hosp, NHC Key Lab Endocrinol, Beijing, Peoples R China Chinese Acad Med Sci, Dept Endocrinol, Peking Union Med Coll Hosp, Peking Union Med Coll, Beijing, Peoples R China Peking Union Med Coll Hosp, NHC Key Lab Endocrinol, Beijing, Peoples R ChinaWu, Xueyan论文数: 0 引用数: 0 h-index: 0机构: Peking Union Med Coll Hosp, NHC Key Lab Endocrinol, Beijing, Peoples R China Chinese Acad Med Sci, Dept Endocrinol, Peking Union Med Coll Hosp, Peking Union Med Coll, Beijing, Peoples R China Peking Union Med Coll Hosp, NHC Key Lab Endocrinol, Beijing, Peoples R China
- [43] Mutation of c.244G>T in NR5A1 gene causing 46, XY DSD by affecting RNA splicingOrphanet Journal of Rare Diseases, 16Bingqing Yu论文数: 0 引用数: 0 h-index: 0机构: Chinese Academy of Medical Sciences,Department of Endocrinology, NHC Key Laboratory of Endocrinology (Peking Union Medical College Hospital), State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Peking Union MediYinjie Gao论文数: 0 引用数: 0 h-index: 0机构: Chinese Academy of Medical Sciences,Department of Endocrinology, NHC Key Laboratory of Endocrinology (Peking Union Medical College Hospital), State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Peking Union MediJiangfeng Mao论文数: 0 引用数: 0 h-index: 0机构: Chinese Academy of Medical Sciences,Department of Endocrinology, NHC Key Laboratory of Endocrinology (Peking Union Medical College Hospital), State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Peking Union MediXi Wang论文数: 0 引用数: 0 h-index: 0机构: Chinese Academy of Medical Sciences,Department of Endocrinology, NHC Key Laboratory of Endocrinology (Peking Union Medical College Hospital), State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Peking Union MediMin Nie论文数: 0 引用数: 0 h-index: 0机构: Chinese Academy of Medical Sciences,Department of Endocrinology, NHC Key Laboratory of Endocrinology (Peking Union Medical College Hospital), State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Peking Union MediXueyan Wu论文数: 0 引用数: 0 h-index: 0机构: Chinese Academy of Medical Sciences,Department of Endocrinology, NHC Key Laboratory of Endocrinology (Peking Union Medical College Hospital), State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Peking Union Medi
- [44] Characteristic Testicular Histology Is Useful for the Identification of NR5A1 Gene Mutations in Prepubertal 46,XY PatientsHORMONE RESEARCH IN PAEDIATRICS, 2013, 80 (02): : 119 - 128Nishina-Uchida, Noriko论文数: 0 引用数: 0 h-index: 0机构: Tokyo Metropolitan Childrens Med Ctr, Dept Endocrinol & Metab, Tokyo 1838561, Japan Tokyo Metropolitan Childrens Med Ctr, Dept Endocrinol & Metab, Tokyo 1838561, JapanFukuzawa, Ryuji论文数: 0 引用数: 0 h-index: 0机构: Tokyo Metropolitan Childrens Med Ctr, Pathol & Clin Lab, Tokyo 1838561, Japan Tokyo Metropolitan Childrens Med Ctr, Dept Endocrinol & Metab, Tokyo 1838561, JapanNumakura, Chikahiko论文数: 0 引用数: 0 h-index: 0机构: Yamagata Univ, Fac Med, Dept Pediat, Yamagata 990, Japan Tokyo Metropolitan Childrens Med Ctr, Dept Endocrinol & Metab, Tokyo 1838561, JapanSuwanai, Ayuko S.论文数: 0 引用数: 0 h-index: 0机构: Keio Univ, Sch Med, Dept Pediat, Tokyo, Japan Tokyo Metropolitan Childrens Med Ctr, Dept Endocrinol & Metab, Tokyo 1838561, JapanHasegawa, Tomonobu论文数: 0 引用数: 0 h-index: 0机构: Keio Univ, Sch Med, Dept Pediat, Tokyo, Japan Tokyo Metropolitan Childrens Med Ctr, Dept Endocrinol & Metab, Tokyo 1838561, JapanHasegawa, Yukihiro论文数: 0 引用数: 0 h-index: 0机构: Tokyo Metropolitan Childrens Med Ctr, Dept Endocrinol & Metab, Tokyo 1838561, Japan Tokyo Metropolitan Childrens Med Ctr, Dept Endocrinol & Metab, Tokyo 1838561, Japan
- [45] Ten novel mutations in the NR5A1 gene cause disordered sex development 1 in 46,XY and ovarian insufficiency in 46,XX individualsSWISS MEDICAL WEEKLY, 2012, 142 : 48S - 48SCamats, N.论文数: 0 引用数: 0 h-index: 0机构: HUVH, VHIR, Pediat Endocrinol Res Unit, Barcelona, Spain Univ Childrens Hosp Bern, Lab Pediat Endocrinol, Dept Pediat & Clin Res, Bern, Switzerland HUVH, VHIR, Pediat Endocrinol Res Unit, Barcelona, SpainPandey, A., V论文数: 0 引用数: 0 h-index: 0机构: Univ Childrens Hosp Bern, Lab Pediat Endocrinol, Dept Pediat & Clin Res, Bern, Switzerland HUVH, VHIR, Pediat Endocrinol Res Unit, Barcelona, SpainFernandez-Cancio, M.论文数: 0 引用数: 0 h-index: 0机构: HUVH, VHIR, Pediat Endocrinol Res Unit, Barcelona, Spain HUVH, VHIR, Pediat Endocrinol Res Unit, Barcelona, SpainAndaluz, P.论文数: 0 引用数: 0 h-index: 0机构: HUVH, VHIR, Pediat Endocrinol Res Unit, Barcelona, Spain HUVH, VHIR, Pediat Endocrinol Res Unit, Barcelona, SpainJanner, M.论文数: 0 引用数: 0 h-index: 0机构: Univ Childrens Hosp Bern, Lab Pediat Endocrinol, Dept Pediat & Clin Res, Bern, Switzerland HUVH, VHIR, Pediat Endocrinol Res Unit, Barcelona, SpainToran, N.论文数: 0 引用数: 0 h-index: 0机构: HUVH, Pathol Dept, Barcelona, Spain HUVH, VHIR, Pediat Endocrinol Res Unit, Barcelona, SpainMullis, P. E.论文数: 0 引用数: 0 h-index: 0机构: Univ Childrens Hosp Bern, Lab Pediat Endocrinol, Dept Pediat & Clin Res, Bern, Switzerland HUVH, VHIR, Pediat Endocrinol Res Unit, Barcelona, SpainCarrascosa, A.论文数: 0 引用数: 0 h-index: 0机构: HUVH, VHIR, Pediat Endocrinol Res Unit, Barcelona, Spain HUVH, VHIR, Pediat Endocrinol Res Unit, Barcelona, SpainAudi, L.论文数: 0 引用数: 0 h-index: 0机构: HUVH, VHIR, Pediat Endocrinol Res Unit, Barcelona, Spain HUVH, VHIR, Pediat Endocrinol Res Unit, Barcelona, SpainFluck, C. E.论文数: 0 引用数: 0 h-index: 0机构: Univ Childrens Hosp Bern, Lab Pediat Endocrinol, Dept Pediat & Clin Res, Bern, Switzerland HUVH, VHIR, Pediat Endocrinol Res Unit, Barcelona, Spain
- [46] Identification and functional analysis of fourteen NR5A1 variants in patients with the 46 XY disorders of sex developmentGENE, 2020, 760Na, Xiaoxue论文数: 0 引用数: 0 h-index: 0机构: Univ Elect Sci & Technol China, Key Lab Human Dis Gene Study Sichuan Prov, Sichuan Prov Peoples Hosp, Prenatal Diag Ctr, Chengdu, Sichuan, Peoples R China Univ Elect Sci & Technol China, Sch Med, Chengdu, Sichuan, Peoples R China Univ Elect Sci & Technol China, Key Lab Human Dis Gene Study Sichuan Prov, Sichuan Prov Peoples Hosp, Prenatal Diag Ctr, Chengdu, Sichuan, Peoples R ChinaMao, Yu论文数: 0 引用数: 0 h-index: 0机构: Univ Elect Sci & Technol China, Sichuan Prov Peoples Hosp, Dept Pediat Surg, Chengdu, Sichuan, Peoples R China Univ Elect Sci & Technol China, Key Lab Human Dis Gene Study Sichuan Prov, Sichuan Prov Peoples Hosp, Prenatal Diag Ctr, Chengdu, Sichuan, Peoples R ChinaTang, Yunman论文数: 0 引用数: 0 h-index: 0机构: Univ Elect Sci & Technol China, Sichuan Prov Peoples Hosp, Dept Pediat Surg, Chengdu, Sichuan, Peoples R China Univ Elect Sci & Technol China, Key Lab Human Dis Gene Study Sichuan Prov, Sichuan Prov Peoples Hosp, Prenatal Diag Ctr, Chengdu, Sichuan, Peoples R ChinaJiang, Wei论文数: 0 引用数: 0 h-index: 0机构: Univ Elect Sci & Technol China, Key Lab Human Dis Gene Study Sichuan Prov, Sichuan Prov Peoples Hosp, Prenatal Diag Ctr, Chengdu, Sichuan, Peoples R China Univ Elect Sci & Technol China, Sch Med, Chengdu, Sichuan, Peoples R China Univ Elect Sci & Technol China, Key Lab Human Dis Gene Study Sichuan Prov, Sichuan Prov Peoples Hosp, Prenatal Diag Ctr, Chengdu, Sichuan, Peoples R ChinaYu, Jing论文数: 0 引用数: 0 h-index: 0机构: Chengdu Univ Tradit Chinese Med, Med Technol Coll, Chengdu, Sichuan, Peoples R China Univ Elect Sci & Technol China, Key Lab Human Dis Gene Study Sichuan Prov, Sichuan Prov Peoples Hosp, Prenatal Diag Ctr, Chengdu, Sichuan, Peoples R ChinaCao, Li论文数: 0 引用数: 0 h-index: 0机构: Chengdu Univ Tradit Chinese Med, Med Technol Coll, Chengdu, Sichuan, Peoples R China Univ Elect Sci & Technol China, Key Lab Human Dis Gene Study Sichuan Prov, Sichuan Prov Peoples Hosp, Prenatal Diag Ctr, Chengdu, Sichuan, Peoples R ChinaYang, Jiyun论文数: 0 引用数: 0 h-index: 0机构: Univ Elect Sci & Technol China, Key Lab Human Dis Gene Study Sichuan Prov, Sichuan Prov Peoples Hosp, Prenatal Diag Ctr, Chengdu, Sichuan, Peoples R China Univ Elect Sci & Technol China, Sch Med, Chengdu, Sichuan, Peoples R China Univ Elect Sci & Technol China, Key Lab Human Dis Gene Study Sichuan Prov, Sichuan Prov Peoples Hosp, Prenatal Diag Ctr, Chengdu, Sichuan, Peoples R China
- [47] Mutation of c.244G>T in NR5A1 gene causing 46, XY DSD by affecting RNA splicingORPHANET JOURNAL OF RARE DISEASES, 2021, 16 (01)Yu, Bingqing论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci, Peking Union Med Coll, Peking Union Med Coll Hosp,Dept Endocrinol, State Key Lab Complex Severe & Rare Dis,NHC Key L, Beijing 100730, Peoples R China Chinese Acad Med Sci, Peking Union Med Coll, Peking Union Med Coll Hosp,Dept Endocrinol, State Key Lab Complex Severe & Rare Dis,NHC Key L, Beijing 100730, Peoples R ChinaGao, Yinjie论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci, Peking Union Med Coll, Peking Union Med Coll Hosp,Dept Endocrinol, State Key Lab Complex Severe & Rare Dis,NHC Key L, Beijing 100730, Peoples R China Chinese Acad Med Sci, Peking Union Med Coll, Peking Union Med Coll Hosp,Dept Endocrinol, State Key Lab Complex Severe & Rare Dis,NHC Key L, Beijing 100730, Peoples R ChinaMao, Jiangfeng论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci, Peking Union Med Coll, Peking Union Med Coll Hosp,Dept Endocrinol, State Key Lab Complex Severe & Rare Dis,NHC Key L, Beijing 100730, Peoples R China Chinese Acad Med Sci, Peking Union Med Coll, Peking Union Med Coll Hosp,Dept Endocrinol, State Key Lab Complex Severe & Rare Dis,NHC Key L, Beijing 100730, Peoples R ChinaWang, Xi论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci, Peking Union Med Coll, Peking Union Med Coll Hosp,Dept Endocrinol, State Key Lab Complex Severe & Rare Dis,NHC Key L, Beijing 100730, Peoples R China Chinese Acad Med Sci, Peking Union Med Coll, Peking Union Med Coll Hosp,Dept Endocrinol, State Key Lab Complex Severe & Rare Dis,NHC Key L, Beijing 100730, Peoples R ChinaNie, Min论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci, Peking Union Med Coll, Peking Union Med Coll Hosp,Dept Endocrinol, State Key Lab Complex Severe & Rare Dis,NHC Key L, Beijing 100730, Peoples R China Chinese Acad Med Sci, Peking Union Med Coll, Peking Union Med Coll Hosp,Dept Endocrinol, State Key Lab Complex Severe & Rare Dis,NHC Key L, Beijing 100730, Peoples R ChinaWu, Xueyan论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci, Peking Union Med Coll, Peking Union Med Coll Hosp,Dept Endocrinol, State Key Lab Complex Severe & Rare Dis,NHC Key L, Beijing 100730, Peoples R China Chinese Acad Med Sci, Peking Union Med Coll, Peking Union Med Coll Hosp,Dept Endocrinol, State Key Lab Complex Severe & Rare Dis,NHC Key L, Beijing 100730, Peoples R China
- [48] 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 KindredHORMONE RESEARCH IN PAEDIATRICS, 2012, 78 (02): : 119 - 126Ciaccio, Marta论文数: 0 引用数: 0 h-index: 0机构: Hosp Pediat Garrahan, Serv Endocrinol, Buenos Aires, DF, Argentina Hosp Pediat Garrahan, Serv Endocrinol, Buenos Aires, DF, ArgentinaCostanzo, Mariana论文数: 0 引用数: 0 h-index: 0机构: Hosp Pediat Garrahan, Serv Endocrinol, Buenos Aires, DF, Argentina Hosp Pediat Garrahan, Serv Endocrinol, Buenos Aires, DF, ArgentinaGuercio, Gabriela论文数: 0 引用数: 0 h-index: 0机构: Hosp Pediat Garrahan, Serv Endocrinol, Buenos Aires, DF, Argentina Hosp Pediat Garrahan, Serv Endocrinol, Buenos Aires, DF, ArgentinaDe Dona, Valeria论文数: 0 引用数: 0 h-index: 0机构: Hosp Pediat Garrahan, Serv Endocrinol, Buenos Aires, DF, Argentina Hosp Pediat Garrahan, Serv Endocrinol, Buenos Aires, DF, ArgentinaMarino, Roxana论文数: 0 引用数: 0 h-index: 0机构: Hosp Pediat Garrahan, Serv Endocrinol, Buenos Aires, DF, Argentina Hosp Pediat Garrahan, Serv Endocrinol, Buenos Aires, DF, ArgentinaRamirez, Pablo C.论文数: 0 引用数: 0 h-index: 0机构: Hosp Pediat Garrahan, Serv Endocrinol, Buenos Aires, DF, Argentina Hosp Pediat Garrahan, Serv Endocrinol, Buenos Aires, DF, ArgentinaGaleano, Jessica论文数: 0 引用数: 0 h-index: 0机构: Hosp Pediat Garrahan, Serv Endocrinol, Buenos Aires, DF, Argentina Hosp Pediat Garrahan, Serv Endocrinol, Buenos Aires, DF, ArgentinaMonica Warman, Diana论文数: 0 引用数: 0 h-index: 0机构: Hosp Pediat Garrahan, Serv Endocrinol, Buenos Aires, DF, Argentina Hosp Pediat Garrahan, Serv Endocrinol, Buenos Aires, DF, ArgentinaBerensztein, Esperanza论文数: 0 引用数: 0 h-index: 0机构: Hosp Pediat Garrahan, Serv Endocrinol, Buenos Aires, DF, Argentina Hosp Pediat Garrahan, Serv Endocrinol, Buenos Aires, DF, ArgentinaSaraco, Nora论文数: 0 引用数: 0 h-index: 0机构: Hosp Pediat Garrahan, Serv Endocrinol, Buenos Aires, DF, Argentina Hosp Pediat Garrahan, Serv Endocrinol, Buenos Aires, DF, ArgentinaSonia Baquedano, Maria论文数: 0 引用数: 0 h-index: 0机构: Hosp Pediat Garrahan, Serv Endocrinol, Buenos Aires, DF, Argentina Hosp Pediat Garrahan, Serv Endocrinol, Buenos Aires, DF, ArgentinaChaler, Eduardo论文数: 0 引用数: 0 h-index: 0机构: Hosp Pediat Garrahan, Serv Endocrinol, Buenos Aires, DF, Argentina Hosp Pediat Garrahan, Serv Endocrinol, Buenos Aires, DF, ArgentinaMaceiras, Mercedes论文数: 0 引用数: 0 h-index: 0机构: Hosp Pediat Garrahan, Serv Endocrinol, Buenos Aires, DF, Argentina Hosp Pediat Garrahan, Serv Endocrinol, Buenos Aires, DF, ArgentinaManuel Lazzatti, Juan论文数: 0 引用数: 0 h-index: 0机构: Hosp Pediat Garrahan, Serv Endocrinol, Buenos Aires, DF, Argentina Hosp Pediat Garrahan, Serv Endocrinol, Buenos Aires, DF, ArgentinaRivarola, Marco A.论文数: 0 引用数: 0 h-index: 0机构: Hosp Pediat Garrahan, Serv Endocrinol, Buenos Aires, DF, Argentina Hosp Pediat Garrahan, Serv Endocrinol, Buenos Aires, DF, ArgentinaBelgorosky, Alicia论文数: 0 引用数: 0 h-index: 0机构: Hosp Pediat Garrahan, Serv Endocrinol, Buenos Aires, DF, Argentina Hosp Pediat Garrahan, Serv Endocrinol, Buenos Aires, DF, Argentina
- [49] The spectrum of phenotypes associated with mutations in steroidogenic factor 1 (SF-1, NR5A1, Ad4BP) includes severe penoscrotal hypospadias in 46,XY males without adrenal insufficiencyEUROPEAN JOURNAL OF ENDOCRINOLOGY, 2009, 161 (02) : 237 - 242Koehler, Birgit论文数: 0 引用数: 0 h-index: 0机构: Humboldt Univ, Dept Pediat Endocrinol, Univ Childrens Hosp, Charite, D-13353 Berlin, Germany Humboldt Univ, Dept Pediat Endocrinol, Univ Childrens Hosp, Charite, D-13353 Berlin, GermanyLin, Lin论文数: 0 引用数: 0 h-index: 0机构: UCL, Dev Endocrinol Res Grp, UCL Inst Child Hlth, London, England Humboldt Univ, Dept Pediat Endocrinol, Univ Childrens Hosp, Charite, D-13353 Berlin, GermanyMazen, Inas论文数: 0 引用数: 0 h-index: 0机构: Natl Res Ctr, Dept Clin Genet, Cairo, Egypt Humboldt Univ, Dept Pediat Endocrinol, Univ Childrens Hosp, Charite, D-13353 Berlin, GermanyCetindag, Cigdem论文数: 0 引用数: 0 h-index: 0机构: Humboldt Univ, Dept Pediat Endocrinol, Univ Childrens Hosp, Charite, D-13353 Berlin, Germany Humboldt Univ, Dept Pediat Endocrinol, Univ Childrens Hosp, Charite, D-13353 Berlin, GermanyBiebermann, Heike论文数: 0 引用数: 0 h-index: 0机构: Humboldt Univ, Dept Pediat Endocrinol, Univ Childrens Hosp, Charite, D-13353 Berlin, Germany Humboldt Univ, Dept Pediat Endocrinol, Univ Childrens Hosp, Charite, D-13353 Berlin, GermanyAkkurt, Ilker论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Altona, Hamburg, Germany Humboldt Univ, Dept Pediat Endocrinol, Univ Childrens Hosp, Charite, D-13353 Berlin, GermanyRossi, Rainer论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Neukolln, Berlin, Germany Humboldt Univ, Dept Pediat Endocrinol, Univ Childrens Hosp, Charite, D-13353 Berlin, GermanyHiort, Olaf论文数: 0 引用数: 0 h-index: 0机构: Med Univ Lubeck, Div Pediat Endocrinol, Dept Pediat, D-23538 Lubeck, Germany Humboldt Univ, Dept Pediat Endocrinol, Univ Childrens Hosp, Charite, D-13353 Berlin, GermanyGrueters, Annette论文数: 0 引用数: 0 h-index: 0机构: Humboldt Univ, Dept Pediat Endocrinol, Univ Childrens Hosp, Charite, D-13353 Berlin, Germany Humboldt Univ, Dept Pediat Endocrinol, Univ Childrens Hosp, Charite, D-13353 Berlin, GermanyAchermann, John C.论文数: 0 引用数: 0 h-index: 0机构: UCL, Dev Endocrinol Res Grp, UCL Inst Child Hlth, London, England Humboldt Univ, Dept Pediat Endocrinol, Univ Childrens Hosp, Charite, D-13353 Berlin, Germany
- [50] Follow-up of two similar patients with Steroidogenic Factor-1 (SF-1/ NR5A1) variants, in two different erasHORMONE RESEARCH IN PAEDIATRICS, 2019, 91 : 487 - 487Gaisl, Odile论文数: 0 引用数: 0 h-index: 0机构: Univ Childrens Hosp, Dept Pediat Endocrinol & Diabetol, Zurich, Switzerland Univ Childrens Hosp, Dept Pediat Endocrinol & Diabetol, Zurich, SwitzerlandAeppli, Tim论文数: 0 引用数: 0 h-index: 0机构: Univ Childrens Hosp, Dept Pediat Endocrinol & Diabetol, Zurich, Switzerland Univ Childrens Hosp, Dept Pediat Endocrinol & Diabetol, Zurich, SwitzerlandSproll, Patrick论文数: 0 引用数: 0 h-index: 0机构: Univ Fribourg, Div Endocrinol, Fribourg, Switzerland Univ Childrens Hosp, Dept Pediat Endocrinol & Diabetol, Zurich, SwitzerlandLang-Muritano, Mariarosaria论文数: 0 引用数: 0 h-index: 0机构: Univ Childrens Hosp, Dept Pediat Endocrinol & Diabetol, Zurich, Switzerland Univ Childrens Hosp, Childrens Res Ctr, Zurich, Switzerland Univ Childrens Hosp, Dept Pediat Endocrinol & Diabetol, Zurich, SwitzerlandNef, Serge论文数: 0 引用数: 0 h-index: 0机构: Univ Geneva, Dept Genet Med & Dev, Geneva, Switzerland Univ Childrens Hosp, Dept Pediat Endocrinol & Diabetol, Zurich, SwitzerlandKonrad, Daniel论文数: 0 引用数: 0 h-index: 0机构: Univ Childrens Hosp, Dept Pediat Endocrinol & Diabetol, Zurich, Switzerland Univ Childrens Hosp, Childrens Res Ctr, Zurich, Switzerland Univ Childrens Hosp, Dept Pediat Endocrinol & Diabetol, Zurich, SwitzerlandBiason-Lauber, Anna论文数: 0 引用数: 0 h-index: 0机构: Univ Fribourg, Div Endocrinol, Fribourg, Switzerland Univ Childrens Hosp, Dept Pediat Endocrinol & Diabetol, Zurich, Switzerland