HuGE Literature Finder
Records 1-20
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Clinical characteristics and genotype-phenotype correlations of 130 Chinese children in a high-homogeneity single-center cohort with 5a-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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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Genetic polymorphisms of 17 ß-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 |
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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 |
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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 |
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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 |
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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 |
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- Page last updated:Sep 16, 2021
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