BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

137 related articles for article (PubMed ID: 38366244)

  • 21. 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]  

  • 22. 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]  

  • 23. Focal dermal hypoplasia in a male patient due to mosaicism for a novel PORCN single nucleotide deletion.
    Vreeburg M; van Geel M; van den Heuij LG; Steijlen PM; van Steensel MA
    J Eur Acad Dermatol Venereol; 2011 May; 25(5):592-5. PubMed ID: 20626533
    [TBL] [Abstract][Full Text] [Related]  

  • 24. A case of mosaic Goltz syndrome (focal dermal hypoplasia) in a male patient.
    Lasocki AL; Stark Z; Orchard D
    Australas J Dermatol; 2011 Feb; 52(1):48-51. PubMed ID: 21332693
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Ophthalmologic findings in an 18-month-old boy with focal dermal hypoplasia.
    Young MP; Sawyer BL; Hartnett ME
    J AAPOS; 2014 Apr; 18(2):205-7. PubMed ID: 24698628
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Novel insights into PORCN mutations, associated phenotypes and pathophysiological aspects.
    Arlt A; Kohlschmidt N; Hentschel A; Bartels E; Groß C; Töpf A; Edem P; Szabo N; Sickmann A; Meyer N; Schara-Schmidt U; Lau J; Lochmüller H; Horvath R; Oktay Y; Roos A; Hiz S
    Orphanet J Rare Dis; 2022 Jan; 17(1):29. PubMed ID: 35101074
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Focal dermal hypoplasia due to a novel mutation in a boy with Klinefelter syndrome.
    Alkindi S; Battin M; Aftimos S; Purvis D
    Pediatr Dermatol; 2013; 30(4):476-9. PubMed ID: 23131169
    [TBL] [Abstract][Full Text] [Related]  

  • 28. A novel intronic PORCN variant creating an alternative splice acceptor site in a mother and her daughter with focal dermal hypoplasia.
    Yamoto K; Okada S; Kato F; Fujisawa Y; Fukami M; Saitsu H; Ogata T
    Am J Med Genet A; 2022 May; 188(5):1612-1617. PubMed ID: 35005837
    [No Abstract]   [Full Text] [Related]  

  • 29. Goltz-Gorlin Syndrome: Revisiting the Clinical Spectrum.
    Yesodharan D; Büschenfelde UMZ; Kutsche K; Mohandas Nair K; Nampoothiri S
    Indian J Pediatr; 2018 Dec; 85(12):1067-1072. PubMed ID: 29383603
    [TBL] [Abstract][Full Text] [Related]  

  • 30. 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]  

  • 31. A novel large deletion mutation involving the PORCN gene in a Chinese patient with focal dermal hypoplasia and literature review.
    Wu R; Zhong W; Chen J; Dou X
    Int J Dermatol; 2023 Sep; 62(9):1164-1167. PubMed ID: 36880456
    [No Abstract]   [Full Text] [Related]  

  • 32. [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]  

  • 33. 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]  

  • 34. 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]  

  • 35. Case of unilateral focal dermal hypoplasia (Goltz syndrome).
    Aoyama M; Sawada H; Shintani Y; Isomura I; Morita A
    J Dermatol; 2008 Jan; 35(1):33-5. PubMed ID: 18181774
    [TBL] [Abstract][Full Text] [Related]  

  • 36. A case of almost unilateral focal dermal hypoplasia resulting from a novel mutation in the PORCN gene.
    Asano M; Fujimura T; Wakusawa C; Aoki Y; Matsubara Y; Aiba S
    Acta Derm Venereol; 2013 Jan; 93(1):120-1. PubMed ID: 22735390
    [No Abstract]   [Full Text] [Related]  

  • 37. Dermatologic findings of focal dermal hypoplasia (Goltz syndrome).
    Bree AF; Grange DK; Hicks MJ; Goltz RW
    Am J Med Genet C Semin Med Genet; 2016 Mar; 172C(1):44-51. PubMed ID: 26858134
    [TBL] [Abstract][Full Text] [Related]  

  • 38. 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]  

  • 39. A Rare Case of Mainly Unilateral Focal Dermal Hypoplasia (Goltz Syndrome) in an Adult Male: A Case Report and Review of the Literature.
    Lyons D; Rushton C; Sidhu S
    J Med Cases; 2020 Mar; 11(3):61-64. PubMed ID: 34434364
    [TBL] [Abstract][Full Text] [Related]  

  • 40.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 7.