HuGE Literature Finder
Rare Disease
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| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 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 |
| 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 |
| 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 |
| Genes causing clefting syndromes as candidates for non-syndromic cleft lip with or without cleft palate: a family-based association study. European journal of oral sciences 2008 Dec 116 (6): 507-11. Scapoli Luca, Martinelli Marcella, Arlotti Marzia, Palmieri Annalisa, Masiero Elena, Pezzetti Furio, Carinci Frances |
| PVRL1 variants contribute to non-syndromic cleft lip and palate in multiple populations. American journal of medical genetics. Part A 2006 Dec 140 (23): 2562-70. Avila Joseph R, Jezewski Peter A, Vieira Alexandre R, Orioli Iêda M, Castilla Eduardo E, Christensen Kaare, Daack-Hirsch Sandra, Romitti Paul A, Murray Jeffrey |
| Study of the PVRL1 gene in Italian nonsyndromic cleft lip patients with or without cleft palate. Annals of human genetics 2006 May 70 (Pt 3): 410-3. Scapoli L, Palmieri A, Martinelli M, Vaccari C, Marchesini J, Pezzetti F, Baciliero U, Padula E, Carinci P, Carinci |
| Role of the autoimmune regulator (AIRE) gene in alopecia areata: strong association of a potentially functional AIRE polymorphism with alopecia universalis. Tissue antigens 2002 Dec 60 (6): 489-95. Tazi-Ahnini R, Cork M J, Gawkrodger D J, Birch M P, Wengraf D, McDonagh A J G, Messenger A |
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- Page last updated:Aug 10, 2022
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