BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

185 related articles for article (PubMed ID: 28097853)

  • 1. [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]  

  • 2. 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]  

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

  • 4. 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]  

  • 5. EDAR-induced hypohidrotic ectodermal dysplasia: a clinical study on signs and symptoms in individuals with a heterozygous c.1072C > T mutation.
    Kieri CF; Bergendal B; Lind LK; Schmitt-Egenolf M; Stecksén-Blicks C
    BMC Med Genet; 2014 May; 15():57. PubMed ID: 24884697
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. 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; 57(8):965-972. PubMed ID: 29855039
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Two novel mutations in the gene EDAR causing autosomal recessive hypohidrotic ectodermal dysplasia.
    Naqvi SK; Wasif N; Javaid H; Ahmad W
    Orthod Craniofac Res; 2011 Aug; 14(3):156-9. PubMed ID: 21771270
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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; 28(7):703-9. PubMed ID: 17354266
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 9(1):e1555. PubMed ID: 33205897
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Different degree of loss-of-function among four missense mutations in the EDAR gene responsible for autosomal recessive hypohidrotic ectodermal dysplasia may be associated with the phenotypic severity.
    Yagi S; Yasuno S; Ansai O; Hayashi R; Shimomura Y
    J Dermatol; 2023 Mar; 50(3):349-356. PubMed ID: 36258277
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. 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]  

  • 14. 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]  

  • 15. 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; 166(4):819-29. PubMed ID: 22032522
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Deleterious Variants in
    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; 20(21):. PubMed ID: 31652981
    [TBL] [Abstract][Full Text] [Related]  

  • 17. EDAR mutation in autosomal dominant hypohidrotic ectodermal dysplasia in two Swedish families.
    Lind LK; Stecksén-Blicks C; Lejon K; Schmitt-Egenolf M
    BMC Med Genet; 2006 Nov; 7():80. PubMed ID: 17125505
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. X-linked and autosomal recessive Hypohidrotic Ectodermal Dysplasia: genotypic-dental phenotypic findings.
    Clauss F; Chassaing N; Smahi A; Vincent MC; Calvas P; Molla M; Lesot H; Alembik Y; Hadj-Rabia S; Bodemer C; Manière MC; Schmittbuhl M
    Clin Genet; 2010 Sep; 78(3):257-66. PubMed ID: 20236127
    [TBL] [Abstract][Full Text] [Related]  

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

    [Next]    [New Search]
    of 10.