BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

169 related articles for article (PubMed ID: 23696273)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 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. 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]  

  • 11. 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]  

  • 12. Dentofacial manifestations of a Paediatric patient with Goltz-Gorlin Syndrome.
    Tupper A; Devi K P; Rahul M; Tewari N
    BMJ Case Rep; 2024 Feb; 17(2):. PubMed ID: 38355206
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Expanding the phenotypic spectrum of PORCN variants in two males with syndromic microphthalmia.
    Brady PD; Van Esch H; Fieremans N; Froyen G; Slavotinek A; Deprest J; Devriendt K; Vermeesch JR
    Eur J Hum Genet; 2015 Apr; 23(4):551-4. PubMed ID: 25026905
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. 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]  

  • 16. 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]  

  • 17. 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]  

  • 18. 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]  

  • 19. Focal dermal hypoplasia: report of a case with myelomeningocele, Arnold-Chiari malformation and hydrocephalus with a review of neurologic manifestations of Goltz syndrome.
    Peters T; Perrier R; Haber RM
    Pediatr Dermatol; 2014; 31(2):220-4. PubMed ID: 24387693
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 9.