BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

170 related articles for article (PubMed ID: 15805154)

  • 21. The first Japanese family of CDH3-related hypotrichosis with juvenile macular dystrophy.
    Hayashi T; Katagiri S; Kubota D; Mizobuchi K; Ishiuji Y; Asahina A; Kameya S; Nakano T
    Mol Genet Genomic Med; 2021 Jun; 9(6):e1688. PubMed ID: 33837674
    [TBL] [Abstract][Full Text] [Related]  

  • 22. EEM syndrome: report of a family and results of a ten-year follow-up.
    Balarin Silva V; Simões AM; Marques-de-Faria AP
    Ophthalmic Genet; 1999 Jun; 20(2):95-9. PubMed ID: 10420194
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Homozygous deletion in CDH3 and hypotrichosis with juvenile macular dystrophy.
    Halford S; Holt R; Németh AH; Downes SM
    Arch Ophthalmol; 2012 Nov; 130(11):1490-2. PubMed ID: 23143461
    [No Abstract]   [Full Text] [Related]  

  • 24. Hypotrichosis and juvenile macular dystrophy caused by CDH3 mutation: A candidate disease for retinal gene therapy.
    Singh MS; Broadgate S; Mathur R; Holt R; Halford S; MacLaren RE
    Sci Rep; 2016 May; 6():23674. PubMed ID: 27157923
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Ectrodactyly, ectodermal dysplasia, macular degeneration syndrome: a further contribution.
    Yildirim MS; Ogun TC; Kamiş U
    Genet Couns; 2006; 17(2):149-53. PubMed ID: 16970031
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Sparse scalp hair and vision loss: think hypotrichosis with juvenile macular dystrophy.
    Narayan A; Moosajee M
    BMJ Case Rep; 2019 Oct; 12(10):. PubMed ID: 31645385
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Association of ectodermal dysplasia, ectrodactyly, and macular dystrophy: the EEM syndrome.
    Ohdo S; Hirayama K; Terawaki T
    J Med Genet; 1983 Feb; 20(1):52-7. PubMed ID: 6302256
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Hypotrichosis with cone-rod dystrophy in a patient with cadherin 3 (CDH3) mutation.
    Nasser F; Mulahasanovic L; Alkhateeb M; Biskup S; Stingl K; Zrenner E
    Doc Ophthalmol; 2019 Apr; 138(2):153-160. PubMed ID: 30710256
    [TBL] [Abstract][Full Text] [Related]  

  • 29. A homozygous frameshift mutation in the HOXC13 gene underlies pure hair and nail ectodermal dysplasia in a Syrian family.
    Farooq M; Kurban M; Fujimoto A; Fujikawa H; Abbas O; Nemer G; Saliba J; Sleiman R; Tofaili M; Kibbi AG; Ito M; Shimomura Y
    Hum Mutat; 2013 Apr; 34(4):578-81. PubMed ID: 23315978
    [TBL] [Abstract][Full Text] [Related]  

  • 30. [Familial juvenile macular dystrophy with congenital hypotrichosis capitis].
    Becker M; Rohrschneider K; Tilgen W; Weber BH; Völcker HE
    Ophthalmologe; 1998 Apr; 95(4):233-40. PubMed ID: 9623260
    [TBL] [Abstract][Full Text] [Related]  

  • 31. A novel 7-bp deletion mutation in a Taiwanese family with X-linked hypohidrotic ectodermal dysplasia.
    Lin TK; Huang CY; Lin MH; Chao SC
    Clin Exp Dermatol; 2004 Sep; 29(5):536-8. PubMed ID: 15347342
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Ectodermal dysplasia, ectrodactyly and macular dystrophy (EEM syndrome) in siblings.
    Senecky Y; Halpern GJ; Inbar D; Attias J; Shohat M
    Am J Med Genet; 2001 Jul; 101(3):195-7. PubMed ID: 11424132
    [TBL] [Abstract][Full Text] [Related]  

  • 33. ADULT ectodermal dysplasia syndrome resulting from the missense mutation R298Q in the p63 gene.
    Chan I; Harper JI; Mellerio JE; McGrath JA
    Clin Exp Dermatol; 2004 Nov; 29(6):669-72. PubMed ID: 15550149
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Ectrodactyly-ectodermal dysplasia-clefting syndrome associated with p63 mutation and an uncommon phenotype.
    Paranaíba LM; Martelli-Júnior H; de Miranda RT; Bufalino A; Abdo Filho RC; Coletta RD
    Cleft Palate Craniofac J; 2010 Sep; 47(5):544-7. PubMed ID: 20180707
    [TBL] [Abstract][Full Text] [Related]  

  • 35. The Rapp-Hodgkin syndrome results from mutations of the TP63 gene.
    Bougeard G; Hadj-Rabia S; Faivre L; Sarafan-Vasseur N; Frébourg T
    Eur J Hum Genet; 2003 Sep; 11(9):700-4. PubMed ID: 12939657
    [TBL] [Abstract][Full Text] [Related]  

  • 36. A novel nonsense CDH3 mutation in hypotrichosis with juvenile macular dystrophy.
    Avitan-Hersh E; Indelman M; Khamaysi Z; Leibu R; Bergman R
    Int J Dermatol; 2012 Mar; 51(3):325-7. PubMed ID: 22348569
    [No Abstract]   [Full Text] [Related]  

  • 37. Hypotrichosis with juvenile macular dystrophy with novel mutations in CDH3 gene.
    Liu Y; Xu Z; Sun Y; Zhang B; Wang X; Ma L
    Australas J Dermatol; 2024 Feb; 65(1):91-94. PubMed ID: 37850495
    [No Abstract]   [Full Text] [Related]  

  • 38. A de novo missense mutation of FGFR2 causes facial dysplasia syndrome in Holstein cattle.
    Agerholm JS; McEvoy FJ; Heegaard S; Charlier C; Jagannathan V; Drögemüller C
    BMC Genet; 2017 Aug; 18(1):74. PubMed ID: 28768473
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Novel homozygous mutation, c.400C>T (p.Arg134*), in the PVRL1 gene underlies cleft lip/palate-ectodermal dysplasia syndrome in an Asian patient.
    Yoshida K; Hayashi R; Fujita H; Kubota M; Kondo M; Shimomura Y; Niizeki H
    J Dermatol; 2015 Jul; 42(7):715-9. PubMed ID: 25913853
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Novel mutations in the carbohydrate sulfotransferase gene (CHST6) in American patients with macular corneal dystrophy.
    Aldave AJ; Yellore VS; Thonar EJ; Udar N; Warren JF; Yoon MK; Cohen EJ; Rapuano CJ; Laibson PR; Margolis TP; Small K
    Am J Ophthalmol; 2004 Mar; 137(3):465-73. PubMed ID: 15013869
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 9.