Human Genome Epidemiology Literature Finder
Records 1 - 13 (of 13 Records) |
Query Trace: MAMLD1[original query] |
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Mutational study of the MAMLD1-gene in hypospadias. European journal of medical genetics 0 53 (3): 122-6. Chen Yougen, Thai Hanh T T, Lundin Johanna, Lagerstedt-Robinson Kristina, Zhao Shengtian, Markljung Ellen, Nordenskjöld Agne |
Polymorphisms of MAMLD1 gene in hypospadias. Journal of pediatric urology 2011 Dec 7 (6): 585-91. Kalfa N, Cassorla F, Audran F, Oulad Abdennabi I, Philibert P, Béroud C, Guys J M, Reynaud R, Alessandrini P, Wagner K, Bréaud J, Valla J S, Morisson Lacombe G, Daures J P, Baskin L, Fukami M, Ogata T, Sultan |
[Single-nucleotide polymorphisms of MAMLD1 and hypospadias in Chinese]. Zhonghua nan ke xue = National journal of andrology 2012 Aug 18 (8): 8. Zhuang LK, Fu QH, Wang J, Sun J |
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 |
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 |
Human MAMLD1 Gene Variations Seem Not Sufficient to Explain a 46,XY DSD Phenotype. PloS one 2015 10 (11): e0142831. Camats Núria, Fernández-Cancio Mónica, Audí Laura, Mullis Primus E, Moreno Francisca, González Casado Isabel, López-Siguero Juan Pedro, Corripio Raquel, Bermúdez de la Vega José Antonio, Blanco José Antonio, Flück Christa |
Polymorphism of 3' UTR of MAMLD1 gene is also associated with increased risk of isolated hypospadias in Indian children: a preliminary report. Pediatric surgery international 2016 Jan . Ratan Simmi K, Sharma Anju, Kapoor Seema, Polipalli Sunil K, Dubey Divya, Mishra Tarun K, Sinha Shandip K, Agarwal Satish |
Association of MAMLD1 single-nucleotide polymorphisms with hypospadias in Chinese Han population. Frontiers in bioscience (Landmark edition) 2017 Mar 22 1173-1176. Liu Yidong, Ye Weijing, Wu Ming, Huang Yir |
Broad Phenotypes of Disorders/Differences of Sex Development in MAMLD1 Patients Through Oligogenic Disease. Frontiers in genetics 2019 9 10 746. Flück Christa E, Audí Laura, Fernández-Cancio Mónica, Sauter Kay-Sara, Martinez de LaPiscina Idoia, Castaño Luis, Esteva Isabel, Camats Núr |
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 |
PLD4 is a genetic determinant to systemic lupus erythematosus and involved in murine autoimmune phenotypes. Annals of the rheumatic diseases 2019 1 78 (4): 509-518. Akizuki Shuji, Ishigaki Kazuyoshi, Kochi Yuta, Law Sze-Ming, Matsuo Keitaro, Ohmura Koichiro, Suzuki Akari, Nakayama Manabu, Iizuka Yusuke, Koseki Haruhiko, Ohara Osamu, Hirata Jun, Kamatani Yoichiro, Matsuda Fumihiko, Sumida Takayuki, Yamamoto Kazuhiko, Okada Yukinori, Mimori Tsuneyo, Terao Chikas |
How Far Should We Explore Hypospadias? Next-generation Sequencing Applied to a Large Cohort of Hypospadiac Patients. European urology 2021 1 79 (4): 507-515. Ea Vuthy, Bergougnoux Anne, Philibert Pascal, Servant-Fauconnet Nadège, Faure Alice, Breaud Jean, Gaspari Laura, Sultan Charles, Paris Françoise, Kalfa Nicol |
Disorders of Sex Development in Individuals Harbouring MAMLD1 Variants: WES and Interactome Evidence of Oligogenic Inheritance. Frontiers in endocrinology 2021 1 11 582516. Li Lele, Gao Fenqi, Fan Lijun, Su Chang, Liang Xuejun, Gong ChunX |
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- Page last updated:Apr 16, 2024
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