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Journal Abstract Search

554 related items for PubMed ID: 31796081

  • 1. 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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  • 2. Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases.
    Cluzeau C, Hadj-Rabia S, Jambou M, Mansour S, Guigue P, Masmoudi S, Bal E, Chassaing N, Vincent MC, Viot G, Clauss F, Manière MC, Toupenay S, Le Merrer M, Lyonnet S, Cormier-Daire V, Amiel J, Faivre L, de Prost Y, Munnich A, Bonnefont JP, Bodemer C, Smahi A.
    Hum Mutat; 2011 Jan 03; 32(1):70-2. PubMed ID: 20979233
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  • 5. 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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  • 9. Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasia.
    Plaisancié J, Bailleul-Forestier I, Gaston V, Vaysse F, Lacombe D, Holder-Espinasse M, Abramowicz M, Coubes C, Plessis G, Faivre L, Demeer B, Vincent-Delorme C, Dollfus H, Sigaudy S, Guillén-Navarro E, Verloes A, Jonveaux P, Martin-Coignard D, Colin E, Bieth E, Calvas P, Chassaing N.
    Am J Med Genet A; 2013 Apr 08; 161A(4):671-8. PubMed ID: 23401279
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  • 10. 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 08; 9(1):e1555. PubMed ID: 33205897
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  • 11. 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 08; 46(8):710-715. PubMed ID: 31245878
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  • 14. KDF1 is a novel candidate gene of non-syndromic tooth agenesis.
    Zeng B, Lu H, Xiao X, Yu X, Li S, Zhu L, Yu D, Zhao W.
    Arch Oral Biol; 2019 Jan 08; 97():131-136. PubMed ID: 30384154
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  • 15. Novel homozygous frameshift insertion variant in the last exon of the EDARADD causing hypohidrotic ectodermal dysplasia in two siblings: case report and review of the literature.
    Kablan A, Tasdelen E.
    Ital J Pediatr; 2024 Jun 05; 50(1):112. PubMed ID: 38840186
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  • 19. Autosomal dominant anhidrotic ectodermal dysplasias at the EDARADD locus.
    Bal E, Baala L, Cluzeau C, El Kerch F, Ouldim K, Hadj-Rabia S, Bodemer C, Munnich A, Courtois G, Sefiani A, Smahi A.
    Hum Mutat; 2007 Jul 05; 28(7):703-9. PubMed ID: 17354266
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