Human Genome Epidemiology Literature Finder
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Records 1 - 17 (of 17 Records) |
| Query Trace: Ectodermal Dysplasia and EDA[original query] |
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| Isolated oligodontia associated with mutations in EDARADD, AXIN2, MSX1, and PAX9 genes. American journal of medical genetics. Part A 2011 Jul 155A (7): 1616-22. Bergendal Birgitta, Klar Joakim, Stecksén-Blicks Christina, Norderyd Johanna, Dahl Nikl |
| Sweating ability and genotype in individuals with X-linked hypohidrotic ectodermal dysplasia. Journal of medical genetics 2011 Jun 48 (6): 426-32. Schneider Holm, Hammersen Johanna, Preisler-Adams Sabine, Huttner Kenneth, Rascher Wolfgang, Bohring Ax |
| Mutations in WNT10A are present in more than half of isolated hypodontia cases. Journal of medical genetics 2012 May 49 (5): 327-31. van den Boogaard Marie-José, Créton Marijn, Bronkhorst Yvon, van der Hout Annemieke, Hennekam Eric, Lindhout Dick, Cune Marco, Ploos van Amstel Hans Kristi |
| Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasia. American journal of medical genetics. Part A 2013 Apr 161A (4): 671-8. Plaisancié Julie, Bailleul-Forestier Isabelle, Gaston Véronique, Vaysse Fréderic, Lacombe Didier, Holder-Espinasse Muriel, Abramowicz Marc, Coubes Christine, Plessis Ghislaine, Faivre Laurence, Demeer Bénédicte, Vincent-Delorme Catherine, Dollfus Hélène, Sigaudy Sabine, Guillén-Navarro Encarna, Verloes Alain, Jonveaux Philippe, Martin-Coignard Dominique, Colin Estelle, Bieth Eric, Calvas Patrick, Chassaing Nicol |
| Involvement of and interaction between WNT10A and EDA mutations in tooth agenesis cases in the Chinese population. PloS one 2013 8 (11): e80393. He Huiying, Han Dong, Feng Hailan, Qu Hong, Song Shujuan, Bai Baojing, Zhang Zhenti |
| Mutations in EDA and EDAR Genes in a Large Mexican Hispanic Cohort with Hypohidrotic Ectodermal Dysplasia. Annals of dermatology 2015 Aug 27 (4): 474-7. Salas-Alanis Julio C, Wozniak Eva, Mein Charles A, Duran Mckinster Carola C, Ocampo-Candiani Jorge, Kelsell David P, Hua Rong, Garza-Rodriguez Maria L, Choate Keith A, Barrera Saldaña Hugo |
| Eight Mutations of Three Genes (EDA, EDAR, and WNT10A) Identified in Seven Hypohidrotic Ectodermal Dysplasia Patients. Genes 2016 7 (9): . Zeng Binghui, Xiao Xue, Li Sijie, Lu Hui, Lu Jiaxuan, Zhu Ling, Yu Dongsheng, Zhao W |
| Mutational spectrum in 101 patients with hypohidrotic ectodermal dysplasia and breakpoint mapping in independent cases of rare genomic rearrangements. Journal of human genetics 2016 Jun . Wohlfart Sigrun, Hammersen Johanna, Schneider Ho |
| Mutational spectrum of EDA and EDAR genes in a cohort of Mexican mestizo patients with hypohidrotic ectodermal dysplasia. Journal of the European Academy of Dermatology and Venereology : JEADV 2017 1 31 (7): e321-e324. Monroy-Jaramillo N, Abad-Flores J D, García-Delgado C, Villaseñor-Domínguez A, Mena-Cedillos C, Toledo-Bahena M E, Valencia-Herrera A M, Sánchez-Boiso A, Akaki-Carreño Y I, Del Río Navarro B, Aguirre-Hernández J, López-López M, Cervantes A, Cerbón M, Morán-Barroso V |
| [Mutation screening and functional analysis for 8 patients with ectodermal dysplasia]. Shanghai kou qiang yi xue = Shanghai journal of stomatology 2019 9 28 (3): 268-274. Zhao Kai, Yu Kang, Wang Feng, Sun Yuan-Yuan, Wu Yi-Q |
| Turkish Ectodermal Dysplasia Cohort: From Phenotype to Genotype in 17 Families. Cytogenetic and genome research 2019 4 157 (4): 189-196. Güven Yeliz, Bal Elodie, Altunoglu Umut, Yücel Esra, Hadj-Rabia Smail, Koruyucu Mine, Bahar Tuna Elif, Ç?ld?r ?ule, Aktören Oya, Bodemer Christine, Uyguner Zehra O, Smahi Asma, Kayserili Hül |
| EDA, EDAR, EDARADD and WNT10A allelic variants in patients with ectodermal derivative impairment in the Spanish population. Orphanet journal of rare diseases 2019 12 14 (1): 281. Martínez-Romero María Carmen, Ballesta-Martínez María Juliana, López-González Vanesa, Sánchez-Soler María José, Serrano-Antón Ana Teresa, Barreda-Sánchez María, Rodriguez-Peña Lidya, Martínez-Menchon María Teresa, Frías-Iniesta José, Sánchez-Pedreño Paloma, Carbonell-Meseguer Pablo, Glover-López Guillermo, Guillén-Navarro Encarna, |
| Comparative analysis of rare EDAR mutations and tooth agenesis pattern in EDAR- and EDA-associated nonsyndromic oligodontia. Human mutation 2020 9 41 (11): 1957-1966. Zhang Liutao, Yu Miao, Wong Sing-Wai, Qu Hong, Cai Tao, Liu Yang, Liu Haochen, Fan Zhuangzhuang, Zheng Jinglei, Zhou Yongsheng, Feng Hailan, Han Do |
| [Prenatal diagnosis of a fetus with X-linked hypohidrotic ectodermal dysplasia]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2020 11 37 (11): 1269-1271. Duan Fuhua, Wang Conghui, Ren Shumin, Kong Xiangdo |
| No evidence for preferential X-chromosome inactivation as the main cause of divergent phenotypes in sisters with X-linked hypohidrotic ectodermal dysplasia. Orphanet journal of rare diseases 2021 2 16 (1): 98. Körber Laura, Schneider Holm, Fleischer Nicole, Maier-Wohlfart Sigr |
| Genetic profiling and diagnostic strategies for patients with ectodermal dysplasias in Korea. Orphanet journal of rare diseases 2024 9 19 (1): 329. Man Jin Kim, Jee-Soo Lee, Seung Won Chae, Sung Im Cho, Jangsup Moon, Jung Min Ko, Jong-Hee Chae, Moon-Woo Seo |
| Compound heterozygous WNT10A missense variations exacerbated the tooth agenesis caused by hypohidrotic ectodermal dysplasia. BMC oral health 2024 1 24 (1): 136. Yiting Liu, Jing Sun, Caiqi Zhang, Yi Wu, Siyuan Ma, Xuechun Li, Xiaoshan Wu, Qingping G |
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