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 *

251 related articles for article (PubMed ID: 29525789)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 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. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. Goltz syndrome and PORCN mosaicism.
    Stevenson DA; Chirpich M; Contreras Y; Hanson H; Dent K
    Int J Dermatol; 2014 Dec; 53(12):1481-4. PubMed ID: 25040319
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Focal dermal hypoplasia (Goltz-Gorlin syndrome): a new case with a novel variant in the PORCN gene (c.1250T>C:p.F417S) and unusual spinal anomaly.
    Garavelli L; Simonte G; Rosato S; Wischmeijer A; Albertini E; Guareschi E; Longo C; Albertini G; Gelmini C; Greco C; Errico S; Savino G; Pavanello M; Happle R; Unger S; Superti-Furga A; Grzeschik KH
    Am J Med Genet A; 2013 Jul; 161A(7):1750-4. PubMed ID: 23696273
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. 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]  

  • 13. Phenotype and genotype in 17 patients with Goltz-Gorlin syndrome.
    Maas SM; Lombardi MP; van Essen AJ; Wakeling EL; Castle B; Temple IK; Kumar VK; Writzl K; Hennekam RC
    J Med Genet; 2009 Oct; 46(10):716-20. PubMed ID: 19586929
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. 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]  

  • 16. 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]  

  • 17. Focal Dermal Hypoplasia Due to De Novo Mutation c.1061T>C(p.Leu354Pro) in the PORCN Gene: Importance of Early Diagnosis and Multidisciplinary Follow-Up.
    Arias-Llorente RP; Rodriguez-Dehli C; López-Martínez A; Riaño-Galán I
    Fetal Pediatr Pathol; 2015; 34(6):375-82. PubMed ID: 26470739
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. Fragmented Elastic Fibers in Focal Dermal Hypoplasia (Goltz-Gorlin Syndrome) Without Focal Dermal Hypoplasia: Report of a Male Case and Review of the Literature.
    Rohdenburg C; Liersch J; Kutsche K; Schaller J
    Am J Dermatopathol; 2020 Sep; 42(9):653-661. PubMed ID: 31789838
    [TBL] [Abstract][Full Text] [Related]  

  • 20. PORCN mutations in focal dermal hypoplasia: coping with lethality.
    Bornholdt D; Oeffner F; König A; Happle R; Alanay Y; Ascherman J; Benke PJ; Boente Mdel C; van der Burgt I; Chassaing N; Ellis I; Francisco CR; Della Giovanna P; Hamel B; Has C; Heinelt K; Janecke A; Kastrup W; Loeys B; Lohrisch I; Marcelis C; Mehraein Y; Nicolas ME; Pagliarini D; Paradisi M; Patrizi A; Piccione M; Piza-Katzer H; Prager B; Prescott K; Strien J; Utine GE; Zeller MS; Grzeschik KH
    Hum Mutat; 2009 May; 30(5):E618-28. PubMed ID: 19309688
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 13.