BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

143 related articles for article (PubMed ID: 31984575)

  • 1. Implementation of high-resolution melting analysis of the porcupine (PORCN) gene for molecular diagnosis of focal dermal hypoplasia: Identification of a novel mutation.
    Martínez-Saucedo M; Ornelas-Fuentes C; Dedden M; Sánchez-Urbina R; Díaz-García H; Aquino-Jarquin G; Moreno-Salgado R; Granados-Riveron JT
    J Gene Med; 2020 May; 22(5):e3165. PubMed ID: 31984575
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A Novel PORCN Frameshift Mutation Leading to Focal Dermal Hypoplasia: A Case Report.
    Durmaz CD; McGrath J; Liu L; Karabulut HG
    Cytogenet Genome Res; 2018; 154(3):119-121. PubMed ID: 29525789
    [TBL] [Abstract][Full Text] [Related]  

  • 3. PORCN mutations and variants identified in patients with focal dermal hypoplasia through diagnostic gene sequencing.
    Fernandes PH; Wen S; Sutton VR; Ward PA; Van den Veyver IB; Fang P
    Genet Test Mol Biomarkers; 2010 Oct; 14(5):709-13. PubMed ID: 20854095
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Novel and recurrent PORCN gene mutations in almost unilateral and typical focal dermal hypoplasia patients.
    Nakanishi G; Hasegawa K; Oono T; Koshida S; Fujimoto N; Iwatsuki K; Tanaka H; Tanaka T
    Eur J Dermatol; 2013; 23(1):64-7. PubMed ID: 23399492
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Two new patients with focal dermal hypoplasia: A novel PORCN variant and insights on the diagnostic considerations.
    Elhossini RM; Abdel-Hamid MS; Ashaat E; Otaify GA; Dawoud H; Elshimy K; El Ruby M; Aglan M
    Congenit Anom (Kyoto); 2022 Mar; 62(2):68-77. PubMed ID: 34962003
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Focal dermal hypoplasia without focal dermal hypoplasia.
    Contreras-Capetillo SN; Lombardi MP; Pinto-Escalante D; Hennekam RC
    Am J Med Genet A; 2014 Mar; 164A(3):778-81. PubMed ID: 24357603
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Focal dermal hypoplasia resulting from a new nonsense mutation, p.E300X, in the PORCN gene.
    Clements SE; Wessagowit V; Lai-Cheong JE; Arita K; McGrath JA
    J Dermatol Sci; 2008 Jan; 49(1):39-42. PubMed ID: 17951029
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Goltz-Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap.
    Harmsen MB; Azzarello-Burri S; García González MM; Gillessen-Kaesbach G; Meinecke P; Müller D; Rauch A; Rossier E; Seemanova E; Spaich C; Steiner B; Wieczorek D; Zenker M; Kutsche K
    Eur J Hum Genet; 2009 Oct; 17(10):1207-15. PubMed ID: 19277062
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Novel PORCN mutations in focal dermal hypoplasia.
    Froyen G; Govaerts K; Van Esch H; Verbeeck J; Tuomi ML; Heikkilä H; Torniainen S; Devriendt K; Fryns JP; Marynen P; Järvelä I; Ala-Mello S
    Clin Genet; 2009 Dec; 76(6):535-43. PubMed ID: 19863546
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Phenotypic and molecular characterization of focal dermal hypoplasia in 18 individuals.
    Bostwick B; Fang P; Patel A; Sutton VR
    Am J Med Genet C Semin Med Genet; 2016 Mar; 172C(1):9-20. PubMed ID: 26853229
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Deletion of mouse Porcn blocks Wnt ligand secretion and reveals an ectodermal etiology of human focal dermal hypoplasia/Goltz syndrome.
    Barrott JJ; Cash GM; Smith AP; Barrow JR; Murtaugh LC
    Proc Natl Acad Sci U S A; 2011 Aug; 108(31):12752-7. PubMed ID: 21768372
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Three novel mutations in the PORCN gene underlying focal dermal hypoplasia.
    Leoyklang P; Suphapeetiporn K; Wananukul S; Shotelersuk V
    Clin Genet; 2008 Apr; 73(4):373-9. PubMed ID: 18325042
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A nonsense porcn mutation in severe focal dermal hypoplasia with natal teeth.
    Dias C; Basto J; Pinho O; Barbêdo C; Mártins M; Bornholdt D; Fortuna A; Grzeschik KH; Lima M
    Fetal Pediatr Pathol; 2010; 29(5):305-13. PubMed ID: 20704476
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Deletion of Porcn in mice leads to multiple developmental defects and models human focal dermal hypoplasia (Goltz syndrome).
    Liu W; Shaver TM; Balasa A; Ljungberg MC; Wang X; Wen S; Nguyen H; Van den Veyver IB
    PLoS One; 2012; 7(3):e32331. PubMed ID: 22412863
    [TBL] [Abstract][Full Text] [Related]  

  • 15. PORCN gene mutations and the protean nature of focal dermal hypoplasia.
    Clements SE; Mellerio JE; Holden ST; McCauley J; McGrath JA
    Br J Dermatol; 2009 May; 160(5):1103-9. PubMed ID: 19292719
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Zygotic Porcn paternal allele deletion in mice to model human focal dermal hypoplasia.
    Biechele S; Adissu HA; Cox BJ; Rossant J
    PLoS One; 2013; 8(11):e79139. PubMed ID: 24223895
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A novel mutation in the PORCN gene underlying a case of almost unilateral focal dermal hypoplasia.
    Maalouf D; Mégarbané H; Chouery E; Nasr J; Badens C; Lacoste C; Grzeschik KH; Mégarbané A
    Arch Dermatol; 2012 Jan; 148(1):85-8. PubMed ID: 22250236
    [TBL] [Abstract][Full Text] [Related]  

  • 18. [A novel PORCN gene mutation in a patient with focal dermal hypoplasia].
    Liu Y; Zhou X; Deng H; He Y; Zhu H; Zhang X
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2010 Dec; 27(6):675-7. PubMed ID: 21154331
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Mosaicism due to postzygotic mutations in women with focal dermal hypoplasia.
    Heinz L; Bourrat E; Vabres P; Thevenon J; Hotz A; Hörer S; Küsel J; Zimmer AD; Alter S; Happle R; Fischer J
    Br J Dermatol; 2019 Mar; 180(3):657-661. PubMed ID: 30022487
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Multiple requirements of the focal dermal hypoplasia gene porcupine during ocular morphogenesis.
    Bankhead EJ; Colasanto MP; Dyorich KM; Jamrich M; Murtaugh LC; Fuhrmann S
    Am J Pathol; 2015 Jan; 185(1):197-213. PubMed ID: 25451153
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.