191 related articles for article (PubMed ID: 25040319)
1. 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]
2. 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]
3. 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]
4. 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]
5. 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]
6. 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]
7. 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]
8. 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]
9. Aplasia cutis congenita associated with Goltz syndrome in a male neonate.
Gnamey DK; Koffi KS; Nagalo K; Guedenon KM; Akakpo-Numado GK; Balaka B; Tatagan-Agbi K; Atakouma DY
Genet Couns; 2010; 21(1):41-7. PubMed ID: 20420028
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. 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]
12. 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]
13. 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]
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. 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]
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. 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]
18. 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]
19. 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]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]