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Journal Abstract Search

236 related items for PubMed ID: 31245878

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  • 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
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  • 4. [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
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  • 6. Functional studies for the TRAF6 mutation associated with hypohidrotic ectodermal dysplasia.
    Fujikawa H, Farooq M, Fujimoto A, Ito M, Shimomura Y.
    Br J Dermatol; 2013 Mar 01; 168(3):629-33. PubMed ID: 22924441
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    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Wright JT, Grange DK, Fete M.
    ; 1993 Mar 01. PubMed ID: 20301291
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  • 9. Characterization of EDARADD gene mutations responsible for hypohidrotic ectodermal dysplasia.
    Asano N, Yasuno S, Hayashi R, Shimomura Y.
    J Dermatol; 2021 Oct 01; 48(10):1533-1541. PubMed ID: 34219261
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  • 11. Hypohidrotic ectodermal dysplasia: clinical and molecular review.
    Reyes-Reali J, Mendoza-Ramos MI, Garrido-Guerrero E, Méndez-Catalá CF, Méndez-Cruz AR, Pozo-Molina G.
    Int J Dermatol; 2018 Aug 01; 57(8):965-972. PubMed ID: 29855039
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  • 12. A novel missense mutation in the gene EDARADD associated with an unusual phenotype of hypohidrotic ectodermal dysplasia.
    Wohlfart S, Söder S, Smahi A, Schneider H.
    Am J Med Genet A; 2016 Jan 01; 170A(1):249-53. PubMed ID: 26440664
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  • 13. Molecular aspects of hypohidrotic ectodermal dysplasia.
    Mikkola ML.
    Am J Med Genet A; 2009 Sep 01; 149A(9):2031-6. PubMed ID: 19681132
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  • 14. 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
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  • 15. Mutation screening of the Ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia.
    van der Hout AH, Oudesluijs GG, Venema A, Verheij JB, Mol BG, Rump P, Brunner HG, Vos YJ, van Essen AJ.
    Eur J Hum Genet; 2008 Jun 08; 16(6):673-9. PubMed ID: 18231121
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  • 18. A founder ectodysplasin A receptor (EDAR) mutation results in a high frequency of the autosomal recessive form of hypohidrotic ectodermal dysplasia in India.
    Bashyam MD, Chaudhary AK, Reddy EC, Reddy V, Acharya V, Nagarajaram HA, Devi AR, Bashyam L, Dalal AB, Gupta N, Kabra M, Agarwal M, Phadke SR, Tainwala R, Kumar R, Hariharan SV.
    Br J Dermatol; 2012 Apr 08; 166(4):819-29. PubMed ID: 22032522
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  • 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 08; 21(9):e3113. PubMed ID: 31310406
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