BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

155 related articles for article (PubMed ID: 38840186)

  • 1. 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; 50(1):112. PubMed ID: 38840186
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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;
    Orphanet J Rare Dis; 2019 Dec; 14(1):281. PubMed ID: 31796081
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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; 30(4):408-416. PubMed ID: 32819890
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Gene Mutations of the Three Ectodysplasin Pathway Key Players (
    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; 12(9):. PubMed ID: 34573371
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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; 170A(1):249-53. PubMed ID: 26440664
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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; 32(1):70-2. PubMed ID: 20979233
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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; 21(9):e3113. PubMed ID: 31310406
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Mutations in EDARADD account for a small proportion of hypohidrotic ectodermal dysplasia cases.
    Chassaing N; Cluzeau C; Bal E; Guigue P; Vincent MC; Viot G; Ginisty D; Munnich A; Smahi A; Calvas P
    Br J Dermatol; 2010 May; 162(5):1044-8. PubMed ID: 20222921
    [TBL] [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; 157(4):189-196. PubMed ID: 30974434
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A missense mutation in the death domain of EDAR abolishes the interaction with EDARADD and underlies hypohidrotic ectodermal dysplasia.
    Masui Y; Farooq M; Sato N; Fujimoto A; Fujikawa H; Ito M; Shimomura Y
    Dermatology; 2011; 223(1):74-9. PubMed ID: 21876339
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A Mongolian patient with hypohidrotic ectodermal dysplasia with a novel P121S variant in EDARADD.
    Suda N; Bazar A; Bold O; Jigjid B; Garidkhuu A; Ganburged G; Moriyama K
    Orthod Craniofac Res; 2010 May; 13(2):114-7. PubMed ID: 20477971
    [TBL] [Abstract][Full Text] [Related]  

  • 12. [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; 115(1):e34-e38. PubMed ID: 28097853
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A rat model of hypohidrotic ectodermal dysplasia carries a missense mutation in the Edaradd gene.
    Kuramoto T; Yokoe M; Hashimoto R; Hiai H; Serikawa T
    BMC Genet; 2011 Oct; 12():91. PubMed ID: 22013926
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A novel 4-bp insertion mutation in EDA1 gene in a Pakistani family with X-linked hypohidrotic ectodermal dysplasia.
    Tariq M; Wasif N; Ayub M; Ahmad W
    Eur J Dermatol; 2007; 17(3):209-12. PubMed ID: 17478381
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A novel frameshift mutation in the
    Rahbaran M; Hassani Doabsari M; Salavitabar S; Mokhberian N; Morovvati Z; Morovvati S
    Cell Mol Biol Lett; 2019; 24():54. PubMed ID: 31452656
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Eight Mutations of Three Genes (EDA, EDAR, and WNT10A) Identified in Seven Hypohidrotic Ectodermal Dysplasia Patients.
    Zeng B; Xiao X; Li S; Lu H; Lu J; Zhu L; Yu D; Zhao W
    Genes (Basel); 2016 Sep; 7(9):. PubMed ID: 27657131
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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; 46(8):710-715. PubMed ID: 31245878
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Ectodysplasin signalling deficiency in mouse models of hypohidrotic ectodermal dysplasia leads to middle ear and nasal pathology.
    Azar A; Piccinelli C; Brown H; Headon D; Cheeseman M
    Hum Mol Genet; 2016 Aug; 25(16):3564-3577. PubMed ID: 27378689
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Characterization of EDARADD gene mutations responsible for hypohidrotic ectodermal dysplasia.
    Asano N; Yasuno S; Hayashi R; Shimomura Y
    J Dermatol; 2021 Oct; 48(10):1533-1541. PubMed ID: 34219261
    [TBL] [Abstract][Full Text] [Related]  

  • 20.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 8.