These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

137 related articles for article (PubMed ID: 24073657)

  • 1. Ectodermal dysplasia-skin fragility syndrome: a novel mutation in the PKP1 gene.
    Hernández-Martín A; Torrelo A; Ciria S; Colmenero I; Aguilar A; Grimalt R; González-Sarmiento R
    Clin Exp Dermatol; 2013 Oct; 38(7):787-90. PubMed ID: 24073657
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Ectodermal dysplasia-skin fragility syndrome: Two new cases and review of this desmosomal genodermatosis.
    Doolan BJ; Gomaa NS; Fawzy MM; Dogheim NN; Liu L; Mellerio JE; Onoufriadis A; McGrath JA
    Exp Dermatol; 2020 Jun; 29(6):520-530. PubMed ID: 32248567
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Ectodermal dysplasia-skin fragility syndrome.
    McGrath JA; Mellerio JE
    Dermatol Clin; 2010 Jan; 28(1):125-9. PubMed ID: 19945625
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Ectodermal dysplasia-skin fragility syndrome due to a new homozygous internal deletion mutation in the PKP1 gene.
    Boyce AE; McGrath JA; Techanukul T; Murrell DF; Chow CW; McGregor L; Warren LJ
    Australas J Dermatol; 2012 Feb; 53(1):61-5. PubMed ID: 22309335
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Ectodermal dysplasia-skin fragility syndrome resulting from a new homozygous mutation, 888delC, in the desmosomal protein plakophilin 1.
    Ersoy-Evans S; Erkin G; Fassihi H; Chan I; Paller AS; Sürücü S; McGrath JA
    J Am Acad Dermatol; 2006 Jul; 55(1):157-61. PubMed ID: 16781314
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Compound heterozygosity for new splice site mutations in the plakophilin 1 gene (PKP1) in a Chinese case of ectodermal dysplasia-skin fragility syndrome.
    Zheng R; Bu DF; Zhu XJ
    Acta Derm Venereol; 2005; 85(5):394-9. PubMed ID: 16159729
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Ectodermal dysplasia-skin fragility syndrome.
    Adhe VS; Dongre AM; Khopkar US
    Indian J Dermatol Venereol Leprol; 2011; 77(4):503-6. PubMed ID: 21727700
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Novel homozygous deletion of the plakophilin-1 gene in a Chinese patient with ectodermal dysplasia-skin fragility syndrome.
    Sun B; Ran X; Wen P; Liu L; Wang X; Li M; Wang S
    J Dermatol; 2020 Jul; 47(7):779-781. PubMed ID: 32346906
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome.
    McGrath JA; McMillan JR; Shemanko CS; Runswick SK; Leigh IM; Lane EB; Garrod DR; Eady RA
    Nat Genet; 1997 Oct; 17(2):240-4. PubMed ID: 9326952
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Novel truncating mutations in PKP1 and DSP cause similar skin phenotypes in two Brazilian families.
    Tanaka A; Lai-Cheong JE; Café ME; Gontijo B; Salomão PR; Pereira L; McGrath JA
    Br J Dermatol; 2009 Mar; 160(3):692-7. PubMed ID: 19016709
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Genotype-phenotype correlation in skin fragility-ectodermal dysplasia syndrome resulting from mutations in plakophilin 1.
    Hamada T; South AP; Mitsuhashi Y; Kinebuchi T; Bleck O; Ashton GH; Hozumi Y; Suzuki T; Hashimoto T; Eady RA; McGrath JA
    Exp Dermatol; 2002 Apr; 11(2):107-14. PubMed ID: 11994137
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Deficient plakophilin-1 expression due to a mutation in PKP1 causes ectodermal dysplasia-skin fragility syndrome in Chesapeake Bay retriever dogs.
    Olivry T; Linder KE; Wang P; Bizikova P; Bernstein JA; Dunston SM; Paps JS; Casal ML
    PLoS One; 2012; 7(2):e32072. PubMed ID: 22384142
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Homozygous splice site mutations in PKP1 result in loss of epidermal plakophilin 1 expression and underlie ectodermal dysplasia/skin fragility syndrome in two consanguineous families.
    Sprecher E; Molho-Pessach V; Ingber A; Sagi E; Indelman M; Bergman R
    J Invest Dermatol; 2004 Mar; 122(3):647-51. PubMed ID: 15086548
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Ectodermal dysplasia-skin fragility syndrome resulting from a new atypical homozygous cryptic acceptor splice site mutation in PKP1.
    Hsu CK; Liu L; Can PK; Kocatürk E; McMillan JR; Güngör Ş; Hürdoğan Ö; Sargan A; Degirmentepe EN; Lee JY; Simpson MA; McGrath JA
    J Dermatol Sci; 2016 Nov; 84(2):210-212. PubMed ID: 27554337
    [No Abstract]   [Full Text] [Related]  

  • 15. Clinical and molecular significance of splice site mutations in the plakophilin 1 gene in patients with ectodermal dysplasia-skin fragility syndrome.
    Wessagowit V; McGrath JA
    Acta Derm Venereol; 2005; 85(5):386-8. PubMed ID: 16159727
    [No Abstract]   [Full Text] [Related]  

  • 16. Preimplantation genetic diagnosis of compound heterozygous mutations leading to ablation of plakophilin-1 (PKP1) and resulting in skin fragility ectodermal dysplasia syndrome: a case report.
    Thornhill AR; Pickering SJ; Whittock NV; Caller J; Andritsos V; Bickerstaff HE; Handyside AH; Eady RA; Braude PR; McGrath JA
    Prenat Diagn; 2000 Dec; 20(13):1055-62. PubMed ID: 11180229
    [TBL] [Abstract][Full Text] [Related]  

  • 17. [Histopathological and genetical diagnosis of one case of neonatal ectodermal dysplasia/skin fragility syndrome].
    Ruan QF; Xia C; Xie WG
    Zhonghua Shao Shang Za Zhi; 2020 Jun; 36(6):500-502. PubMed ID: 32594712
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Genomic amplification of the human plakophilin 1 gene and detection of a new mutation in ectodermal dysplasia/skin fragility syndrome.
    Whittock NV; Haftek M; Angoulvant N; Wolf F; Perrot H; Eady RA; McGrath JA
    J Invest Dermatol; 2000 Sep; 115(3):368-74. PubMed ID: 10951270
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Preimplantation genetic diagnosis of skin fragility-ectodermal dysplasia syndrome.
    Fassihi H; Grace J; Lashwood A; Whittock NV; Braude PR; Pickering SJ; McGrath JA
    Br J Dermatol; 2006 Mar; 154(3):546-50. PubMed ID: 16445790
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Skin fragility and hypohidrotic ectodermal dysplasia resulting from ablation of plakophilin 1.
    McGrath JA; Hoeger PH; Christiano AM; McMillan JR; Mellerio JE; Ashton GH; Dopping-Hepenstal PJ; Lake BD; Leigh IM; Harper JI; Eady RA
    Br J Dermatol; 1999 Feb; 140(2):297-307. PubMed ID: 10233227
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.