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202 related items for PubMed ID: 33205897
1. Missense mutations in EDA and EDAR genes cause dominant syndromic tooth agenesis. Andreoni F, Sgattoni C, Bencardino D, Simonetti O, Forabosco A, Magnani M. Mol Genet Genomic Med; 2021 Jan; 9(1):e1555. PubMed ID: 33205897 [Abstract] [Full Text] [Related]
2. Deleterious Variants in WNT10A, EDAR, and EDA Causing Isolated and Syndromic Tooth Agenesis: A Structural Perspective from Molecular Dynamics Simulations. Parveen A, Khan SA, Mirza MU, Bashir H, Arshad F, Iqbal M, Ahmad W, Wahab A, Fiaz A, Naz S, Ashraf F, Mobeen T, Aziz S, Ahmed SS, Muhammad N, Hassib NF, Mostafa MI, Gaboon NE, Gul R, Khan S, Froeyen M, Shoaib M, Wasif N. Int J Mol Sci; 2019 Oct 24; 20(21):. PubMed ID: 31652981 [Abstract] [Full Text] [Related]
3. EDA, EDAR, EDARADD and WNT10A allelic variants in patients with ectodermal derivative impairment in the Spanish population. Martínez-Romero MC, Ballesta-Martínez MJ, López-González V, Sánchez-Soler MJ, Serrano-Antón AT, Barreda-Sánchez M, Rodriguez-Peña L, Martínez-Menchon MT, Frías-Iniesta J, Sánchez-Pedreño P, Carbonell-Meseguer P, Glover-López G, Guillén-Navarro E, GIEDE (Spanish multidisciplinary research group for ectodermal dysplasia). Orphanet J Rare Dis; 2019 Dec 03; 14(1):281. PubMed ID: 31796081 [Abstract] [Full Text] [Related]
4. Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Wright JT, Grange DK, Fete M. ; 1993 Dec 03. PubMed ID: 20301291 [Abstract] [Full Text] [Related]
6. Recurrent mutations in functionally-related EDA and EDAR genes underlie X-linked isolated hypodontia and autosomal recessive hypohidrotic ectodermal dysplasia. Azeem Z, Naqvi SK, Ansar M, Wali A, Naveed AK, Ali G, Hassan MJ, Tariq M, Basit S, Ahmad W. Arch Dermatol Res; 2009 Sep 03; 301(8):625-9. PubMed ID: 19551394 [Abstract] [Full Text] [Related]
7. Homozygous variants of EDAR underlying hypohidrotic ectodermal dysplasia in three consanguineous families. Khan SA, Rukan A, Ullah A, Bibi N, Humayun M, Ullah W, Raza R, Muhammad N, Ahmad W, Khan S, E-Kalsoom U. Eur J Dermatol; 2020 Aug 01; 30(4):408-416. PubMed ID: 32819890 [Abstract] [Full Text] [Related]
8. Gene Mutations of the Three Ectodysplasin Pathway Key Players (EDA, EDAR, and EDARADD) Account for More than 60% of Egyptian Ectodermal Dysplasia: A Report of Seven Novel Mutations. Ahmed HA, El-Kamah GY, Rabie E, Mostafa MI, Abouzaid MR, Hassib NF, Mehrez MI, Abdel-Kader MA, Mohsen YH, Zada SK, Amr KS, Sayed ISM. Genes (Basel); 2021 Sep 08; 12(9):. PubMed ID: 34573371 [Abstract] [Full Text] [Related]
9. Turkish Ectodermal Dysplasia Cohort: From Phenotype to Genotype in 17 Families. Güven Y, Bal E, Altunoglu U, Yücel E, Hadj-Rabia S, Koruyucu M, Bahar Tuna E, Çıldır Ş, Aktören O, Bodemer C, Uyguner ZO, Smahi A, Kayserili H. Cytogenet Genome Res; 2019 Sep 08; 157(4):189-196. PubMed ID: 30974434 [Abstract] [Full Text] [Related]
10. A novel EDAR missense mutation identified by whole-exome sequencing with non-syndromic tooth agenesis in a Chinese family. Zhang H, Kong X, Ren J, Yuan S, Liu C, Hou Y, Liu Y, Meng L, Zhang G, Du Q, Shen W. Mol Genet Genomic Med; 2021 Jun 08; 9(6):e1684. PubMed ID: 33943035 [Abstract] [Full Text] [Related]
11. A compound heterozygous mutation in the EDAR gene in a Spanish family with autosomal recessive hypohidrotic ectodermal dysplasia. Moya-Quiles MR, Ballesta-Martínez MJ, López-González V, Glover G, Guillén-Navarro E. Arch Dermatol Res; 2010 May 08; 302(4):307-10. PubMed ID: 20033817 [Abstract] [Full Text] [Related]
13. Involvement of and interaction between WNT10A and EDA mutations in tooth agenesis cases in the Chinese population. He H, Han D, Feng H, Qu H, Song S, Bai B, Zhang Z. PLoS One; 2013 May 08; 8(11):e80393. PubMed ID: 24312213 [Abstract] [Full Text] [Related]
14. [Clinical and molecular study in a family with autosomal dominant hypohidrotic ectodermal dysplasia]. Callea M, Cammarata-Scalisi F, Willoughby CE, Giglio SR, Sani I, Bargiacchi S, Traficante G, Bellacchio E, Tadini G, Yavuz I, Galeotti A, Clarich G. Arch Argent Pediatr; 2017 Feb 01; 115(1):e34-e38. PubMed ID: 28097853 [Abstract] [Full Text] [Related]
18. Functional studies for a dominant mutation in the EDAR gene responsible for hypohidrotic ectodermal dysplasia. Okita T, Asano N, Yasuno S, Shimomura Y. J Dermatol; 2019 Aug 01; 46(8):710-715. PubMed ID: 31245878 [Abstract] [Full Text] [Related]
19. De novo EDA mutations: Variable expression in two Egyptian families. Gaczkowska A, Abdalla EM, Dowidar KM, Elhady GM, Jagodzinski PP, Mostowska A. Arch Oral Biol; 2016 Aug 01; 68():21-8. PubMed ID: 27054699 [Abstract] [Full Text] [Related]
20. A recurrent missense mutation in the EDAR gene causes severe autosomal recessive hypohidrotic ectodermal dysplasia in two consanguineous Kashmiri families. Sadia, Foo JN, Khor CC, Jelani M, Ali G. J Gene Med; 2019 Sep 01; 21(9):e3113. PubMed ID: 31310406 [Abstract] [Full Text] [Related] Page: [Next] [New Search]