BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

160 related articles for article (PubMed ID: 28293688)

  • 1. Mosaic Focal Dermal Hypoplasia (Goltz Syndrome) in Two Female Patients.
    Severino-Freire M; Maza A; Lombardi MP; Tournier E; Chassaing N; Mazereeuw-Hautier J
    Acta Derm Venereol; 2017 Jul; 97(7):853-854. PubMed ID: 28293688
    [No Abstract]   [Full Text] [Related]  

  • 2. Postzygotic mosaicism in a woman with Goltz syndrome mimics segmental angioma serpiginosum.
    Tewari A; Alarcon L; Gordon K; Mansour S; Akhras V
    Br J Dermatol; 2019 Sep; 181(3):613-614. PubMed ID: 30801665
    [No Abstract]   [Full Text] [Related]  

  • 3. 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]  

  • 4. Two female cases of focal dermal hypoplasia: One new case with a novel variant in PORCN (c.808_811delGGGG).
    Liang Y; Liu YX; Xu ZG; Ma L
    J Dermatol; 2018 Jan; 45(1):104-105. PubMed ID: 28012187
    [No Abstract]   [Full Text] [Related]  

  • 5. 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]  

  • 6. Esophageal papillomas and skin abnormalities. Focal dermal hypoplasia (Goltz syndrome) manifesting with esophageal papillomatosis.
    Kashyap P; Sweetser S; Farrugia G
    Gastroenterology; 2011 Mar; 140(3):784, 1111. PubMed ID: 21272558
    [No Abstract]   [Full Text] [Related]  

  • 7. 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]  

  • 8. Novel uses of laser therapy in Goltz syndrome.
    Martínez-Campayo N; Rego-Campuzano I; Del Pozo J; Paradela S; Fernandez-Flores Á; Fonseca E
    Dermatol Ther; 2022 May; 35(5):e15371. PubMed ID: 35141996
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. [Focal dermal hypoplasia associated with pathogenic PORCN gene variant in postzygotic, unilateral mosaic form].
    Koutra E; Lusmöller E; Fischer J; Komlosi K; Stadler R; Gutzmer R
    Dermatologie (Heidelb); 2024 Jun; 75(6):486-491. PubMed ID: 38366244
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. 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]  

  • 13. 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]  

  • 14. 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]  

  • 15. Goltz syndrome and PORCN: A view from Europe.
    Happle R
    Am J Med Genet C Semin Med Genet; 2016 Mar; 172C(1):21-3. PubMed ID: 26799923
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. 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]  

  • 18. Mosaic focal dermal hypoplasia caused by a novel somatic mutation in PORCN detected in affected skin.
    Sheu J; Divito SJ; Hoffman EP; Frank NY; Merola JF
    Br J Dermatol; 2015 Aug; 173(2):568-70. PubMed ID: 25640089
    [No Abstract]   [Full Text] [Related]  

  • 19. Prenatal diagnosis of focal dermal hypoplasia: Report of three fetuses and review of the literature.
    Mary L; Scheidecker S; Kohler M; Lombardi MP; Delezoide AL; Auberger E; Triau S; Colin E; Gerard M; Grzeschik KH; Dollfus H; Antal MC
    Am J Med Genet A; 2017 Feb; 173(2):479-486. PubMed ID: 27623003
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [Focal dermal hypoplasia (Goltz-Gorlin syndrome) : The cause is now known].
    Giehl KA
    Hautarzt; 2016 Jul; 67(7):583-5. PubMed ID: 27341828
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 8.