BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

254 related articles for article (PubMed ID: 19438931)

  • 1. Identification of mutations in the EDA and EDAR genes in Pakistani families with hypohidrotic ectodermal dysplasia.
    Shimomura Y; Wajid M; Weiser J; Kraemer L; Ishii Y; Lombillo V; Bale SJ; Christiano AM
    Clin Genet; 2009 Jun; 75(6):582-4. PubMed ID: 19438931
    [No Abstract]   [Full Text] [Related]  

  • 2. Molecular genetic analysis of patients from India with hypohidrotic ectodermal dysplasia reveals novel mutations in the EDA and EDAR genes.
    RamaDevi AR; Reddy EC; Ranjan S; Bashyam MD
    Br J Dermatol; 2008 Jan; 158(1):163-7. PubMed ID: 17970812
    [No Abstract]   [Full Text] [Related]  

  • 3. 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; 301(8):625-9. PubMed ID: 19551394
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. Mutational spectrum of EDA and EDAR genes in a cohort of Mexican mestizo patients with hypohidrotic ectodermal dysplasia.
    Monroy-Jaramillo N; Abad-Flores JD; García-Delgado C; Villaseñor-Domínguez A; Mena-Cedillos C; Toledo-Bahena ME; Valencia-Herrera AM; Sánchez-Boiso A; Akaki-Carreño YI; Del Río Navarro B; Aguirre-Hernández J; López-López M; Cervantes A; Cerbón M; Morán-Barroso VF
    J Eur Acad Dermatol Venereol; 2017 Jul; 31(7):e321-e324. PubMed ID: 28045201
    [No 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. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. Ectodysplasin A (EDA) - EDA receptor signalling and its pharmacological modulation.
    Kowalczyk-Quintas C; Schneider P
    Cytokine Growth Factor Rev; 2014 Apr; 25(2):195-203. PubMed ID: 24508088
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Structural insights into pathogenic mechanism of hypohidrotic ectodermal dysplasia caused by ectodysplasin A variants.
    Yu K; Huang C; Wan F; Jiang C; Chen J; Li X; Wang F; Wu J; Lei M; Wu Y
    Nat Commun; 2023 Feb; 14(1):767. PubMed ID: 36765055
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. The ectodysplasin pathway: from diseases to adaptations.
    Sadier A; Viriot L; Pantalacci S; Laudet V
    Trends Genet; 2014 Jan; 30(1):24-31. PubMed ID: 24070496
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. 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]  

  • 16. A novel large deletion that encompasses EDA and the downstream gene AWAT2 causes X-linked hypohidrotic/anhidrotic ectodermal dysplasia.
    Chaudhary AK; Sankar VH; Bashyam MD
    J Dermatol Sci; 2016 Oct; 84(1):105-107. PubMed ID: 27443954
    [No Abstract]   [Full Text] [Related]  

  • 17. Novel mutations in the EDAR gene in two Pakistani consanguineous families with autosomal recessive hypohidrotic ectodermal dysplasia.
    Naeem M; Muhammad D; Ahmad W
    Br J Dermatol; 2005 Jul; 153(1):46-50. PubMed ID: 16029325
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A new mutation in EDA gene in X-linked hypohidrotic ectodermal dysplasia associated with keratoconus.
    Piccione M; Serra G; Sanfilippo C; Andreucci E; Sani I; Corsello G
    Minerva Pediatr; 2012 Feb; 64(1):59-64. PubMed ID: 22350046
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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; 302(4):307-10. PubMed ID: 20033817
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 13.