Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 30 (of 34 Records) |
Query Trace: Ectodermal Dysplasia[original query] |
---|
A common variation in EDAR is a genetic determinant of shovel-shaped incisors. American journal of human genetics 2009 Oct 85 (4): 528-35. Kimura Ryosuke, Yamaguchi Tetsutaro, Takeda Mayako, Kondo Osamu, Toma Takashi, Haneji Kuniaki, Hanihara Tsunehiko, Matsukusa Hirotaka, Kawamura Shoji, Maki Koutaro, Osawa Motoki, Ishida Hajime, Oota Hiro |
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 |
PVRL1 as a candidate gene for nonsyndromic cleft lip with or without cleft palate: no evidence for the involvement of common or rare variants in southern Han Chinese patients. DNA and cell biology 2012 Mar . Cheng HQ, Huang EM, Xu MY, Shu SY, Tang SJ |
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 |
Pathologic Findings in NEMO Deficiency: A Surgical and Autopsy Survey. Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society 2015 Jul . Huppmann Alison R, Leiding Jennifer W, Hsu Amy P, Raffeld Mark, Uzel Gulbu, Pittaluga Stefania, Holland Steven |
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 |
Marked overlap of four genetic syndromes with dyskeratosis congenita confounds clinical diagnosis. Haematologica 2016 Sep . Walne Amanda J, Collopy Laura, Cardoso Shirleny, Ellison Alicia, Plagnol Vincent, Albayrak Canan, Albayrak Davut, Kilic Sara Sebnem, Patiroglu Turkan, Akar Haluk, Godfrey Keith, Carter Tina, Marafie Makia, Vora Ajay, Sundin Mikael, Vulliamy Thomas, Tummala Hemanth, Dokal Inderje |
Novel variant in the TP63 gene associated to ankyloblepharon-ectodermal dysplasia-cleft lip/palate (AEC) syndrome. Ophthalmic genetics 2016 Aug 1-4. Gonzalez Francisco, Loidi Lourdes, Abalo-Lojo Jose |
A known mutation in GJB6 in a large Chinese family with hidrotic ectodermal dysplasia. Journal of the European Academy of Dermatology and Venereology : JEADV 2016 May . Yang R, Hu Zl, Kong Qt, Li Ww, Zhang Ll, Du X, Huang Sy, Xia Xy, Sang |
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 |
Biallelic mutations in DYNC2LI1 are a rare cause of Ellis-van Creveld syndrome. Clinical genetics 2017 9 93 (3): 632-639. Niceta M, Margiotti K, Digilio M C, Guida V, Bruselles A, Pizzi S, Ferraris A, Memo L, Laforgia N, Dentici M L, Consoli F, Torrente I, Ruiz-Perez V L, Dallapiccola B, Marino B, De Luca A, Tartaglia |
TP63 mutations are frequent in cutaneous melanoma, support UV etiology, but their role in melanomagenesis is unclear. Oncology reports 2017 8 38 (4): 1985-1994. Monti Paola, Ghiorzo Paola, Menichini Paola, Foggetti Giorgia, Queirolo Paola, Izzotti Alberto, Fronza Gilber |
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 |
Biallelic mutations of EGFR in a compound heterozygous state cause ectodermal dysplasia with severe skin defects and gastrointestinal dysfunction. Human genome variation 2018 6 5 11. Hayashi Shion, Yokoi Takayuki, Hatano Chihiro, Enomoto Yumi, Tsurusaki Yoshinori, Naruto Takuya, Kobayashi Masahisa, Ida Hiroyuki, Kurosawa Ken |
[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 |
An epidemiological survey of anhidrotic/hypohidrotic ectodermal dysplasia in Japan: High prevalence of allergic diseases. The Journal of dermatology 2021 12 49 (4): 422-431. Inazawa-Terada Minako, Namiki Takeshi, Omigawa Chika, Fujimoto Tomoko, Munetsugu Takichi, Ugajin Tsukasa, Shimomura Yutaka, Ohshima Yuichiro, Yoshida Kazue, Niizeki Hironori, Hayashi Ryota, Nakano Hajime, Yokozeki Hir |
Ellis-Van Creveld Syndrome: Clinical and Molecular Analysis of 50 Individuals. Journal of medical genetics 2022 8 . Aubert-Mucca Marion, Huber Céline, Baujat Genevieve, Michot Caroline, Zarhrate Mohammed, Bras Marc, Boutaud Lucile, Malan Valérie, Attie-Bitach Tania, , Cormier-Daire Valer |
Short anagen hair syndrome: Association with mono- and biallelic variants in WNT10A and a genetic overlap with male pattern hair loss. The British journal of dermatology 2023 9 . Nicole Cesarato, Agnes Schwieger-Briel, Yasmina Gossmann, Sabrina K Henne, Kathrin Hillmann, Leonie H Frommherz, Maria Wehner, Xing Xiong, Holger Thiele, Vinzenz Oji, Donatella Milani, Iliana Tantcheva-Poor, Kathrin Giehl, Regina Fölster-Holst, Anne Teichler, Delphine Braeckmans, Peter H Hoeger, Gabriela Jones, Jorge Frank, Lisa Weibel, Ulrike Blume-Peytavi, Henning Hamm, Markus M Nöthen, Matthias Geyer, Stefanie Heilmann-Heimbach, F Buket Basmanav, Regina C Be |
A new variant of the ectodysplasin A receptor death domain gene associated with anhidrotic ectodermal dysplasia in a Turkish family and its simple diagnosis by restriction fragment length polymorphism. Genes & genetic systems 2023 9 . Eyyup Rencuzogullari, Banu Guven Ez |
Gain-of-function variants in the KDF1 gene cause hidradenitis suppurativa associated with ectodermal dysplasia by stabilizing I?B kinase ?. The British journal of dermatology 2023 5 . Alban Ziegler, Frédéric Ebstein, Hanan Shamseldin, Clément Prouteau, Elke Krüger, Yousef M Binamer, Dominique Bonneau, Fowzan S Alkuraya, Ludovic Mart |
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 |
- Page last reviewed:Feb 1, 2024
- Page last updated:Apr 22, 2024
- Content source: