209 related articles for article (PubMed ID: 30328268)
1. Unexpected ABCC6 mRNA splicing in a Chinese family with pseudoxanthoma elasticum.
Sun Q; Wang W; Wu L; Cheng L; Tong X; Xu X
Acta Ophthalmol; 2019 May; 97(3):e381-e389. PubMed ID: 30328268
[TBL] [Abstract][Full Text] [Related]
2. Novel mutation in ABCC6 gene in a Japanese pedigree with pseudoxanthoma elasticum and retinitis pigmentosa.
Yoshida S; Honda M; Yoshida A; Nakao S; Goto Y; Nakamura T; Fujisawa K; Ishibashi T
Eye (Lond); 2005 Feb; 19(2):215-7. PubMed ID: 15184964
[TBL] [Abstract][Full Text] [Related]
3. Pseudoxanthoma elasticum and retinitis pigmentosa in a patient with a novel mutation in the
Mishra AV; Martens R; MacDonald IM
Ophthalmic Genet; 2024 Feb; 45(1):108-111. PubMed ID: 37259549
[TBL] [Abstract][Full Text] [Related]
4. New ABCC6 gene mutations in German pseudoxanthoma elasticum patients.
Hendig D; Schulz V; Eichgrün J; Szliska C; Götting C; Kleesiek K
J Mol Med (Berl); 2005 Feb; 83(2):140-7. PubMed ID: 15723264
[TBL] [Abstract][Full Text] [Related]
5. Assessment of a rapid-cycle PCR assay for the identification of the recurrent c.3421C>T mutation in the ABCC6 gene in pseudoxanthoma elasticum patients.
Götting C; Schulz V; Hendig D; Grundt A; Dreier J; Szliska C; Brinkmann T; Kleesiek K
Lab Invest; 2004 Jan; 84(1):122-30. PubMed ID: 14631379
[TBL] [Abstract][Full Text] [Related]
6. Pseudoxanthoma elasticum overlaps hereditary spastic paraplegia type 56.
Legrand A; Pujol C; Durand CM; Mesnil A; Rubera I; Duranton C; Zuily S; Sousa AB; Renaud M; Boucher JL; Pietrancosta N; Adham S; Orssaud C; Marelli C; Casali C; Ziccardi L; Villain N; Ewenczyk C; Durr A; Mignot C; Stevanin G; Billon C; Hureaux M; Jeunemaitre X; Goizet C; Albuisson J
J Intern Med; 2021 May; 289(5):709-725. PubMed ID: 33107650
[TBL] [Abstract][Full Text] [Related]
7. Mutational analysis of the ABCC6 gene and the proximal ABCC6 gene promoter in German patients with pseudoxanthoma elasticum (PXE).
Schulz V; Hendig D; Henjakovic M; Szliska C; Kleesiek K; Götting C
Hum Mutat; 2006 Aug; 27(8):831. PubMed ID: 16835894
[TBL] [Abstract][Full Text] [Related]
8. Identification of ABCC6 pseudogenes on human chromosome 16p: implications for mutation detection in pseudoxanthoma elasticum.
Pulkkinen L; Nakano A; Ringpfeil F; Uitto J
Hum Genet; 2001 Sep; 109(3):356-65. PubMed ID: 11702217
[TBL] [Abstract][Full Text] [Related]
9. Pseudoxanthoma elasticum associated with vitelliform macular lesion.
Parodi MB; Iacono P; Bandello F
Ophthalmic Surg Lasers Imaging Retina; 2015 Feb; 46(2):287-8. PubMed ID: 25707061
[TBL] [Abstract][Full Text] [Related]
10. Analysis of the frequent R1141X mutation in the ABCC6 gene in pseudoxanthoma elasticum.
Hu X; Peek R; Plomp A; ten Brink Jt; Scheffer G; van Soest S; Leys A; de Jong PT; Bergen AA
Invest Ophthalmol Vis Sci; 2003 May; 44(5):1824-9. PubMed ID: 12714611
[TBL] [Abstract][Full Text] [Related]
11. A novel Q378X mutation exists in the transmembrane transporter protein ABCC6 and its pseudogene: implications for mutation analysis in pseudoxanthoma elasticum.
Cai L; Lumsden A; Guenther UP; Neldner SA; Zäch S; Knoblauch H; Ramesar R; Hohl D; Callen DF; Neldner KH; Lindpaintner K; Richards RI; Struk B
J Mol Med (Berl); 2001 Sep; 79(9):536-46. PubMed ID: 11692167
[TBL] [Abstract][Full Text] [Related]
12. Clinical and histopathological characteristics of a family with R1141X mutation of pseudoxanthoma elasticum - presymptomatic testing and lack of carrier phenotypes.
Akoglu G; Li Q; Gokoz O; Gazyagci AS; Uitto J
Int J Dermatol; 2014 Jun; 53(6):692-8. PubMed ID: 23675997
[TBL] [Abstract][Full Text] [Related]
13. Fundus autofluorescence in Pseudoxanthoma elasticum.
Finger RP; Charbel Issa P; Ladewig M; Götting C; Holz FG; Scholl HP
Retina; 2009; 29(10):1496-505. PubMed ID: 19823106
[TBL] [Abstract][Full Text] [Related]
14. Molecular genetics of pseudoxanthoma elasticum: type and frequency of mutations in ABCC6.
Miksch S; Lumsden A; Guenther UP; Foernzler D; Christen-Zäch S; Daugherty C; Ramesar RK; Lebwohl M; Hohl D; Neldner KH; Lindpaintner K; Richards RI; Struk B
Hum Mutat; 2005 Sep; 26(3):235-48. PubMed ID: 16086317
[TBL] [Abstract][Full Text] [Related]
15. Late-onset Pseudoxanthoma Elasticum Associated with a Hypomorphic ABCC6 Variant.
Charbel Issa P; Tysoe C; Caswell R
Am J Ophthalmol; 2020 Oct; 218():255-260. PubMed ID: 32442430
[TBL] [Abstract][Full Text] [Related]
16. Pseudoxanthoma elasticum with generalized retinal dysfunction, a common finding?
Audo I; Vanakker OM; Smith A; Leroy BP; Robson AG; Jenkins SA; Coucke PJ; Bird AC; De Paepe A; Holder GE; Webster AR
Invest Ophthalmol Vis Sci; 2007 Sep; 48(9):4250-6. PubMed ID: 17724214
[TBL] [Abstract][Full Text] [Related]
17. Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum.
Pfendner EG; Vanakker OM; Terry SF; Vourthis S; McAndrew PE; McClain MR; Fratta S; Marais AS; Hariri S; Coucke PJ; Ramsay M; Viljoen D; Terry PF; De Paepe A; Uitto J; Bercovitch LG
J Med Genet; 2007 Oct; 44(10):621-8. PubMed ID: 17617515
[TBL] [Abstract][Full Text] [Related]
18. Patients with premature coronary artery disease who carry the ABCC6 R1141X mutation have no Pseudoxanthoma Elasticum phenotype.
Wegman JJ; Hu X; Tan H; Bergen AA; Trip MD; Kastelein JJ; Smulders YM
Int J Cardiol; 2005 Apr; 100(3):389-93. PubMed ID: 15837081
[TBL] [Abstract][Full Text] [Related]
19. Heterozygosity for a single mutation in the ABCC6 gene may closely mimic PXE: consequences of this phenotype overlap for the definition of PXE.
Martin L; Maître F; Bonicel P; Daudon P; Verny C; Bonneau D; Le Saux O; Chassaing N
Arch Dermatol; 2008 Mar; 144(3):301-6. PubMed ID: 18347285
[TBL] [Abstract][Full Text] [Related]
20. Histological skin changes in heterozygote carriers of mutations in ABCC6, the gene causing pseudoxanthoma elasticum.
Martin L; Chassaing N; Delaite D; Estève E; Maître F; Le Bert M
J Eur Acad Dermatol Venereol; 2007 Mar; 21(3):368-73. PubMed ID: 17309461
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]