171 related articles for article (PubMed ID: 18347285)
1. 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]
2. 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]
3. 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]
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. Pseudoxanthoma elasticum is a recessive disease characterized by compound heterozygosity.
Ringpfeil F; McGuigan K; Fuchsel L; Kozic H; Larralde M; Lebwohl M; Uitto J
J Invest Dermatol; 2006 Apr; 126(4):782-6. PubMed ID: 16410789
[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. 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]
8. 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]
9. Spectrum of genetic variation at the ABCC6 locus in South Africans: Pseudoxanthoma elasticum patients and healthy individuals.
Ramsay M; Greenberg T; Lombard Z; Labrum R; Lubbe S; Aron S; Marais AS; Terry S; Bercovitch L; Viljoen D
J Dermatol Sci; 2009 Jun; 54(3):198-204. PubMed ID: 19339160
[TBL] [Abstract][Full Text] [Related]
10. Classic pseudoxanthoma elasticum in a girl with sickle cell disease.
Mitre V; Brown D; Phung T; Hunt RD
Pediatr Dermatol; 2019 Jan; 36(1):e64-e65. PubMed ID: 30537162
[TBL] [Abstract][Full Text] [Related]
11. [From gene to disease; pseudoxanthoma elasticum and the ABCC6 gene].
Bergen AA; Plomp AS; Gorgels TG; de Jong PT
Ned Tijdschr Geneeskd; 2004 Aug; 148(32):1586-9. PubMed ID: 15382558
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. GGCX mutations in a patient with overlapping pseudoxanthoma elasticum/cutis laxa-like phenotype.
Li D; Ryu E; Saeidian AH; Youssefian L; Oliphant E; Terry SF; Tong PL; Uitto J; Haass NK; Li Q
Br J Dermatol; 2021 Jun; 184(6):1170-1174. PubMed ID: 33000479
[TBL] [Abstract][Full Text] [Related]
14. Contribution of ABCC6 genomic rearrangements to the diagnosis of pseudoxanthoma elasticum in French patients.
Chassaing N; Martin L; Bourthoumieu S; Calvas P; Hovnanian A
Hum Mutat; 2007 Oct; 28(10):1046. PubMed ID: 17823974
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. ABCC6/MRP6 mutations: further insight into the molecular pathology of pseudoxanthoma elasticum.
Hu X; Plomp A; Wijnholds J; Ten Brink J; van Soest S; van den Born LI; Leys A; Peek R; de Jong PT; Bergen AA
Eur J Hum Genet; 2003 Mar; 11(3):215-24. PubMed ID: 12673275
[TBL] [Abstract][Full Text] [Related]
17. Mutations in the GGCX and ABCC6 genes in a family with pseudoxanthoma elasticum-like phenotypes.
Li Q; Grange DK; Armstrong NL; Whelan AJ; Hurley MY; Rishavy MA; Hallgren KW; Berkner KL; Schurgers LJ; Jiang Q; Uitto J
J Invest Dermatol; 2009 Mar; 129(3):553-63. PubMed ID: 18800149
[TBL] [Abstract][Full Text] [Related]
18. Does autosomal dominant pseudoxanthoma elasticum exist?
Plomp AS; Hu X; de Jong PT; Bergen AA
Am J Med Genet A; 2004 May; 126A(4):403-12. PubMed ID: 15098239
[TBL] [Abstract][Full Text] [Related]
19. Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6.
Nitschke Y; Baujat G; Botschen U; Wittkampf T; du Moulin M; Stella J; Le Merrer M; Guest G; Lambot K; Tazarourte-Pinturier MF; Chassaing N; Roche O; Feenstra I; Loechner K; Deshpande C; Garber SJ; Chikarmane R; Steinmann B; Shahinyan T; Martorell L; Davies J; Smith WE; Kahler SG; McCulloch M; Wraige E; Loidi L; Höhne W; Martin L; Hadj-Rabia S; Terkeltaub R; Rutsch F
Am J Hum Genet; 2012 Jan; 90(1):25-39. PubMed ID: 22209248
[TBL] [Abstract][Full Text] [Related]
20. Identification of two novel missense mutations (p.R1221C and p.R1357W) in the ABCC6 (MRP6) gene in a Japanese patient with pseudoxanthoma elasticum (PXE).
Noji Y; Inazu A; Higashikata T; Nohara A; Kawashiri MA; Yu W; Todo Y; Nozue T; Uno Y; Hifumi S; Mabuchi H
Intern Med; 2004 Dec; 43(12):1171-6. PubMed ID: 15645653
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]