165 related articles for article (PubMed ID: 19863546)
1. 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]
2. 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]
3. 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]
4. 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]
5. 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]
6. 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]
7. 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]
8. 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]
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 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]
11. 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]
12. 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]
13. 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]
14. [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]
15. 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]
16. 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]
17. 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]
18. 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]
19. 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]
20. 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]
[Next] [New Search]