Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 30 Records) |
Query Trace: Hypospadias and SRD5A2[original query] |
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Mutation analysis of five candidate genes in Chinese patients with hypospadias. European journal of human genetics : EJHG 2004 Sep 12 (9): 706-12. Wang Yanping, Li Qiang, Xu Jiajie, Liu Qingjie, Wang Weiqiu, Lin Yi, Ma Fen, Chen Taiji, Li Senkai, Shen Y |
Steroid 5alpha-reductase 1 polymorphisms and testosterone/dihydrotestosterone ratio in male patients with hypospadias. Hormone research 2004 61 (4): 180-3. Tria Antje, Hiort Olaf, Sinnecker Gernot H |
The valine allele of the V89L polymorphism in the 5-alpha-reductase gene confers a reduced risk for hypospadias. The Journal of clinical endocrinology and metabolism 2005 Dec 90 (12): 6695-8. Thai Hanh T T, Kalbasi Mina, Lagerstedt Kristina, Frisén Louise, Kockum Ingrid, Nordenskjöld Agne |
Genetics of hypospadias: are single-nucleotide polymorphisms in SRD5A2, ESR1, ESR2, and ATF3 really associated with the malformation? The Journal of clinical endocrinology and metabolism 2010 May 95 (5): 2384-90. van der Zanden Loes F M, van Rooij Iris A L M, Feitz Wout F J, Vermeulen Sita H H M, Kiemeney Lambertus A L M, Knoers Nine V A M, Roeleveld Nel, Franke Barba |
Genetic polymorphisms of 17 ?-hydroxysteroid dehydrogenase 3 and the risk of hypospadias. The journal of sexual medicine 2010 Aug 7 (8): 2729-38. Sata Fumihiro, Kurahashi Norie, Ban Susumu, Moriya Kimihiko, Tanaka Kazuyuki D, Ishizuka Mayumi, Nakao Hiroyuki, Yahata Yuichiro, Imai Hirohisa, Kakizaki Hidehiro, Nonomura Katsuya, Kishi Rei |
Hypospadias risk and polymorphism in SRD5A2 and CYP17 genes: case-control study among Indian children. The Journal of urology 2011 Jun 185 (6): 2334-9. Samtani Ratika, Bajpai Minu, Vashisht Kapil, Ghosh P K, Saraswathy K |
Screening of MAMLD1 mutations in 70 children with 46,XY DSD: identification and functional analysis of two new mutations. PloS one 2012 7 (3): e32505. Kalfa Nicolas, Fukami Maki, Philibert Pascal, Audran Francoise, Pienkowski Catherine, Weill Jacques, Pinto Graziella, Manouvrier Sylvie, Polak Michel, Ogata Totsumo, Sultan Charl |
Exploration of gene-environment interactions, maternal effects and parent of origin effects in the etiology of hypospadias. The Journal of urology 2012 Oct . van der Zanden LF, Galesloot TE, Feitz WF, Brouwers MM, Shi M, Knoers NV, Franke B, Roeleveld N, van Rooij IA |
Mutation analysis of the SRD5A2, AR and SF-1 genes in 52 Chinese boys with hypospadias. Journal of pediatric endocrinology & metabolism : JPEM 2013 26 (9-10): 887-93. Wang Ruifang, Dong Zhiya, Wang Wei, Xiao Yuan, Ni Jihong, Wang Def |
Association of a tagging single nucleotide polymorphism in the androgen receptor gene region with susceptibility to severe hypospadias in a Caucasian population. Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation 2013 7 (4): 173-9. Adamovic T, Thai H T T, Liedén A, Nordenskjöld |
Hypospadias and variants in genes related to sex hormone biosynthesis and metabolism. Andrology 2014 Jan 2 (1): 130-7. Carmichael S L, Witte J S, Ma C, Lammer E J, Shaw G |
Mutational Analysis of Androgen Receptor (AR) Gene in 46,XY Patients with Ambiguous Genitalia and Normal Testosterone Secretion: Endocrinological Characteristics of Three Patients with AR Gene Mutations. Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology 2014 5 15 (4): 151-62. Miyamoto Junko, Asanuma Hiroshi, Nakai Hideo, Hasegawa Tomonobu, Nawata Hajime, Hasegawa Yukihi |
Is Hypospadias Associated with Prenatal Exposure to Endocrine Disruptors? A French Collaborative Controlled Study of a Cohort of 300 Consecutive Children Without Genetic Defect. European urology 2015 May . Kalfa Nicolas, Paris Françoise, Philibert Pascal, Orsini Mattea, Broussous Sylvie, Fauconnet-Servant Nadège, Audran Françoise, Gaspari Laura, Lehors Hélène, Haddad Myriam, Guys Jean-Michel, Reynaud Rachel, Alessandrini Pierre, Merrot Thierry, Wagner Kathy, Kurzenne Jean-Yves, Bastiani Florence, Bréaud Jean, Valla Jean-Stéphane, Lacombe Gérard Morisson, Dobremez Eric, Zahhaf Amel, Daures Jean-Pierre, Sultan Charl |
A49T, R227Q and TA repeat polymorphism of steroid 5 alpha-reductase type II gene and Hypospadias risk in North Indian children. Meta gene 2015 Feb 3 1-7. Samtani Ratika, Bajpai Minu, Ghosh P K, Saraswathy K |
Phenotype, genotype and gender identity in a large cohort of patients from India with 5a-reductase 2 deficiency. Andrology 2015 Oct . Shabir I, Khurana M L, Joseph A A, Eunice M, Mehta M, Ammini A |
Molecular basis of non-syndromic hypospadias: systematic mutation screening and genome-wide copy-number analysis of 62 patients. Human reproduction (Oxford, England) 2015 Mar 30 (3): 499-506. Kon M, Suzuki E, Dung V C, Hasegawa Y, Mitsui T, Muroya K, Ueoka K, Igarashi N, Nagasaki K, Oto Y, Hamajima T, Yoshino K, Igarashi M, Kato-Fukui Y, Nakabayashi K, Hayashi K, Hata K, Matsubara Y, Moriya K, Ogata T, Nonomura K, Fukami |
Association of SRD5A2 gene mutations with risk of hypospadias in the Iranian population. Journal of endocrinological investigation 2016 Nov . Rahimi M, Ghanbari M, Fazeli Z, Rouzrokh M, Omrani S, Mirfakhraie R, Omrani M |
Steroid 5-alpha-reductase type 2 (SRD5A2) gene V89L polymorphism and hypospadias risk: A meta-analysis. Journal of pediatric urology 2017 Jun . Zhang K, Li Y, Mao Y, Ma |
Single-nucleotide and copy-number variance related to severity of hypospadias. Pediatric surgery international 2018 Aug . Singh Neetu, Gupta Devendra Kumar, Sharma Shilpa, Sahu Dinesh Kumar, Mishra Archana, Yadav Devendra Kumar, Rawat Jiledar, Singh Arun Kum |
Identification of gene variants in 130 Han Chinese patients with hypospadias by targeted next-generation sequencing. Molecular genetics & genomic medicine 2019 6 7 (8): e827. Zhang Wanyu, Shi Jinxiu, Zhang Chenhui, Jiang Xincheng, Wang Junqi, Wang Wei, Wang Defen, Ni Jihong, Chen Lifen, Lu Wenli, Xiao Yuan, Ye Weijing, Dong Zhi |
New insights into 5?-reductase type 2 deficiency based on a multi-centre study: regional distribution and genotype-phenotype profiling of SRD5A2 in 190 Chinese patients. Journal of medical genetics 2019 6 56 (10): 685-692. Gui Baoheng, Song Yanning, Su Zhe, Luo Fei-Hong, Chen Linqi, Wang Xiumin, Chen Ruimin, Yang Yu, Wang Jin, Zhao Xiu, Fan Lijun, Liu Xia, Wang Yi, Chen Shaoke, Gong Chunx |
Polymorphisms of MAMLD1, SRD5A2, and AR Candidate Genes in Seven Dogs (78,XY; SRY-Positive) Affected by Hypospadias or Cryptorchidism. Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation 2019 5 13 (2): 92-98. Krzemi?ska Paulina, D'Anza Emanuele, Ciotola Francesca, Paciello Orlando, Restucci Brunella, Peretti Vincenzo, Albarella Sara, Switonski Mar |
5?-Reductase type 2 deficiency in families from an isolated Andean population in Venezuela. Annals of human genetics 2019 10 84 (2): 151-160. Avendaño Andrea, González-Coira Mercedes, Paradisi Irene, Rojas Ascanio, Da Silva Gloria, Gómez-Pérez Roald, Ceballos Jesús Osu |
Molecular genetic analysis of AKR1C2-4 and HSD17B6 genes in subjects 46,XY with hypospadias. Journal of pediatric urology 2020 Jul . Mares L, Vilchis F, Chávez B, Ramos |
Clinical characteristics and genotype-phenotype correlations of 130 Chinese children in a high-homogeneity single-center cohort with 5?-reductase 2 deficiency. Molecular genetics & genomic medicine 2020 Jul e1431. Fan Lijun, Song Yanning, Polak Michel, Li Lele, Ren Xiaoya, Zhang Beibei, Wu Di, Gong Chunx |
Whole exome sequencing applied to 42 Han Chinese patients with posterior hypospadias. Steroids 2022 May 184 109041. Shaomei Wang, Yongbin Pan, Daiyue Yu, Zhaorong Huang, Huirong Yang, Nan Li, Huanbin Lin, Yuzhu Liang, Kai |
An Extremely Rare SRD5A2 Gene c.485A>C Mutation in a Compound Heterozygous Newborn with Disorders of Sex Development First Identified in Vietnam. Case reports in endocrinology 2022 4 2022 6025916. Le Phan Tuong Quynh, Le Thanh Nha Uyen, Nguyen Thi Thanh Binh, Nguyen Minh Thao, Ha Thi Minh T |
[Analysis of clinical phenotype and genotype of Chinese children with disorders of sex development]. Zhonghua er ke za zhi = Chinese journal of pediatrics 2022 4 60 (5): 435-441. Lin H, Yang H, Fu J F, Yuan K, Huang W, Wu G P, Dong G J, Tian D H, Wu D X, Tang D W, Wu L Y, Sun Y L, Pi L J, Liu L P, Shi W, Gu L G, Huang Z H, Wang L Q, Chen H Y, Li Y, Yu H Y, Wei X R, Cheng X O, Shan Y, Liu X, Xu S, Liu X P, Luo Y F, Xiao Y, Yang G M, Li M, Feng X Q, Ma D X, Pan J Y, Tang R M, Chen Ruimin, Maimaiti D Y, Liu X H, Cui Z, Su Z Q, Dong L, Zou Y L, Liu J, Wu K X, Li Y, Li Yu |
Clinical characteristics and genetic expansion of 46, XY disorders of sex development children in a Chinese prospective study. Endocrine connections 2023 7 . Yijun Tang, Yao Chen, Jiayi Wang, Qianwen Zhang, Yirou Wang, Yufei Xu, Xin Li, Jian Wang, Xiumin Wa |
In vitro functional study of fifteen SRD5A2 variants found in Chinese patients and the relation between the SRD5A2 genotypes and phenotypes. The Journal of steroid biochemistry and molecular biology 2023 11 235 106421. Wei Zhang, Bingging Yu, Wei Luo, Bang Sun, Xiaoxia Zhang, Xi Wang, Jiangfeng Mao, Min Nie, Xueyan |
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- Page last updated:Apr 16, 2024
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