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Showing results for phenodex
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Skin and Arterial Wall Deposits of 18F-NaF and Severity of Disease in Patients with Pseudoxanthoma Elasticum.
Gutierrez-Cardo A, Lillo E, Murcia-Casas B, Carrillo-Linares JL, García-Argüello F, Sánchez-Sánchez P, Rodriguez-Morata A, Aranda IB, Sánchez-Chaparro MÁ, García-Fernández M, Valdivielso P. Gutierrez-Cardo A, et al. J Clin Med. 2020 May 8;9(5):1393. doi: 10.3390/jcm9051393. J Clin Med. 2020. PMID: 32397252 Free PMC article.

There was no significant association between 18F-NaF deposition in the arteries or skin and the global Phenodex score. In contrast, the Phenodex score was significantly associated in univariate analyses with the averaged vascular calcium score (p < 0.01). In the

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There was no significant association between 18F-NaF deposition in the arteries or skin and the global Phenodex score. In contrast, t …
Mutation spectrum in the ABCC6 gene and genotype-phenotype correlations in a French cohort with pseudoxanthoma elasticum.
Legrand A, Cornez L, Samkari W, Mazzella JM, Venisse A, Boccio V, Auribault K, Keren B, Benistan K, Germain DP, Frank M, Jeunemaitre X, Albuisson J. Legrand A, et al. Genet Med. 2017 Aug;19(8):909-917. doi: 10.1038/gim.2016.213. Epub 2017 Jan 19. Genet Med. 2017. PMID: 28102862 Free article.
METHODS: A molecular analysis was performed on 458 French PXE probands clinically evaluated using the Phenodex score (PS). Variant topographic analysis and genotype-phenotype correlation analysis were performed according to the number and type of identified variants. ...
METHODS: A molecular analysis was performed on 458 French PXE probands clinically evaluated using the Phenodex score (PS). Variant to …
Serum Calcification Propensity T50 Associates with Disease Severity in Patients with Pseudoxanthoma Elasticum.
Nollet L, Van Gils M, Fischer S, Campens L, Karthik S, Pasch A, De Zaeytijd J, Leroy BP, Devos D, De Backer T, Coucke PJ, Vanakker OM. Nollet L, et al. J Clin Med. 2022 Jun 28;11(13):3727. doi: 10.3390/jcm11133727. J Clin Med. 2022. PMID: 35807012 Free PMC article.
Fifty-seven PXE patients were included in this cross-sectional study, and demographic, clinical, imaging and biochemical data were collected from medical health records. PXE severity was assessed using Phenodex scores. T50 was measured using a validated, nephelometry-based …
Fifty-seven PXE patients were included in this cross-sectional study, and demographic, clinical, imaging and biochemical data were collected …
Phenotypic Features and Genetic Findings in a Cohort of Italian Pseudoxanthoma Elasticum Patients and Update of the Ophthalmologic Evaluation Score.
Boraldi F, Murro V, Lofaro FD, Mucciolo DP, Costa S, Pavese L, Quaglino D. Boraldi F, et al. J Clin Med. 2021 Jun 19;10(12):2710. doi: 10.3390/jcm10122710. J Clin Med. 2021. PMID: 34205333 Free PMC article.
METHODS: A retrospective study was performed on 377 PXE patients of Italian origin, clinically evaluated according to the Phenodex Index, who underwent ABCC6 biomolecular analyses. Moreover, 53 PXE patients were further characterized by in-depth ophthalmological examinatio …
METHODS: A retrospective study was performed on 377 PXE patients of Italian origin, clinically evaluated according to the Phenodex In …
Correlation of systemic involvement and presence of pathological skin calcification assessed by ex vivo nonlinear microscopy in Pseudoxanthoma elasticum.
Fésűs L, Kiss N, Farkas K, Plázár D, Pálla S, Navasiolava N, Róbert L, Wikonkál NM, Martin L, Medvecz M. Fésűs L, et al. Arch Dermatol Res. 2023 Sep;315(7):1897-1908. doi: 10.1007/s00403-023-02557-x. Epub 2023 Feb 27. Arch Dermatol Res. 2023. PMID: 36847829 Free PMC article.
The number of affected typical and nontypical skin sites were counted. Phenodex + scores were determined. The relationship between the ophthalmological, cerebro- and cardiovascular and other systemic complications and CA, CD and CS, respectively, and skin involvement were …
The number of affected typical and nontypical skin sites were counted. Phenodex + scores were determined. The relationship between th …
Mutational spectrum and deep phenotyping in Pseudoxanthoma Elasticum: Findings from a Portuguese cohort.
Dias MQ, Gouveia N, Félix R, Estrela-Silva S, Cabral D, Carvalho AL, Murta J, Silva R, Marques JP. Dias MQ, et al. Eur J Ophthalmol. 2024 Apr 11:11206721241247676. doi: 10.1177/11206721241247676. Online ahead of print. Eur J Ophthalmol. 2024. PMID: 38602027
Deep phenotyping comprised a comprehensive ophthalmologic and systemic evaluation using the updated Phenodex Score (PS). RESULTS: Twenty-seven patients (23 families) were included. ...
Deep phenotyping comprised a comprehensive ophthalmologic and systemic evaluation using the updated Phenodex Score (PS). RESULTS: Twe …
Analysis of clinical symptoms and ABCC6 mutations in 76 Japanese patients with pseudoxanthoma elasticum.
Iwanaga A, Okubo Y, Yozaki M, Koike Y, Kuwatsuka Y, Tomimura S, Yamamoto Y, Tamura H, Ikeda S, Maemura K, Tsuiki E, Kitaoka T, Endo Y, Mishima H, Yoshiura KI, Ogi T, Tanizaki H, Wataya-Kaneda M, Hattori T, Utani A. Iwanaga A, et al. J Dermatol. 2017 Jun;44(6):644-650. doi: 10.1111/1346-8138.13727. Epub 2017 Feb 10. J Dermatol. 2017. PMID: 28186352
Symptom severity scores for skin, eye and vascular lesions, calculated using the Phenodex system, were significantly lower in Japanese PXE patients than in LOVD PXE patients. ...
Symptom severity scores for skin, eye and vascular lesions, calculated using the Phenodex system, were significantly lower in Japanes …
Inorganic Pyrophosphate Plasma Levels Are Decreased in Pseudoxanthoma Elasticum Patients and Heterozygous Carriers but Do Not Correlate with the Genotype or Phenotype.
Van Gils M, Depauw J, Coucke PJ, Aerts S, Verschuere S, Nollet L, Vanakker OM. Van Gils M, et al. J Clin Med. 2023 Feb 27;12(5):1893. doi: 10.3390/jcm12051893. J Clin Med. 2023. PMID: 36902680 Free PMC article.
PPi levels were found to correlate with age in PXE patients and carriers, independent of the ABCC6 genotype. No correlations were found between PPi levels and the Phenodex scores. Our results suggest that other factors besides PPi are at play in ectopic mineralization, whi …
PPi levels were found to correlate with age in PXE patients and carriers, independent of the ABCC6 genotype. No correlations were found betw …
Can APOE and MTHFR polymorphisms have an influence on the severity of cardiovascular manifestations in Italian Pseudoxanthoma elasticum affected patients?
Boraldi F, Costa S, Rabacchi C, Ciani M, Vanakker O, Quaglino D. Boraldi F, et al. Mol Genet Metab Rep. 2014 Nov 16;1:477-482. doi: 10.1016/j.ymgmr.2014.11.002. eCollection 2014. Mol Genet Metab Rep. 2014. PMID: 27896127 Free PMC article.
The severity of the clinical phenotype has been quantified according to the Phenodex PXE International score system. Statistical analysis (chi(2) test, odd ratio, regression analysis, analysis of variance) were done by GraphPad. ...
The severity of the clinical phenotype has been quantified according to the Phenodex PXE International score system. Statistical anal …