BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

488 related articles for article (PubMed ID: 20236127)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. Hypohidrotic ectodermal dysplasia.
    Lu PD; Schaffer JV
    Dermatol Online J; 2008 Oct; 14(10):22. PubMed ID: 19061621
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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; 16(6):673-9. PubMed ID: 18231121
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. 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]  

  • 11. 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]  

  • 12. A novel splice site mutation in the EDAR gene underlies autosomal recessive hypohidrotic ectodermal dysplasia in a Pakistani family.
    Wasif N; Tariq M; Ali G; Hassan MJ; Ahmad W
    Pediatr Dermatol; 2010; 27(1):106-8. PubMed ID: 20199431
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. Quantification of taurodontism: interests in the early diagnosis of hypohidrotic ectodermal dysplasia.
    Gros CI; Clauss F; Obry F; Manière MC; Schmittbuhl M
    Oral Dis; 2010 Apr; 16(3):292-8. PubMed ID: 20374512
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. 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]  

  • 17. Correlation between the phenotypes and genotypes of X-linked hypohidrotic ectodermal dysplasia and non-syndromic hypodontia caused by ectodysplasin-A mutations.
    Zhang J; Han D; Song S; Wang Y; Zhao H; Pan S; Bai B; Feng H
    Eur J Med Genet; 2011; 54(4):e377-82. PubMed ID: 21457804
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Sweating ability and genotype in individuals with X-linked hypohidrotic ectodermal dysplasia.
    Schneider H; Hammersen J; Preisler-Adams S; Huttner K; Rascher W; Bohring A
    J Med Genet; 2011 Jun; 48(6):426-32. PubMed ID: 21357618
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. Mutations in EDAR account for one-quarter of non-ED1-related hypohidrotic ectodermal dysplasia.
    Chassaing N; Bourthoumieu S; Cossee M; Calvas P; Vincent MC
    Hum Mutat; 2006 Mar; 27(3):255-9. PubMed ID: 16435307
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 25.