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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1975 1
1977 1
1978 2
1980 1
1981 1
1982 2
1983 1
1984 4
1985 1
1988 1
1989 1
1990 1
1991 1
1992 1
1994 3
1995 1
1996 1
1997 3
1998 1
1999 5
2000 7
2001 6
2002 3
2003 6
2004 6
2005 5
2006 4
2007 4
2008 11
2009 10
2010 7
2011 12
2012 1
2013 8
2014 14
2015 6
2016 7
2017 12
2018 6
2019 10
2020 15
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2022 5
2023 3
2024 2

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190 results

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Page 1
Genetic heterogeneity of heritable ectopic mineralization disorders in a large international cohort.
Saeidian AH, Youssefian L, Huang J, Touati A, Vahidnezhad H, Kowal L, Caffet M, Wurst T, Singh J, Snook AE, Ryu E, Fortina P, Terry SF, Schoenecker JG, Uitto J, Li Q. Saeidian AH, et al. Genet Med. 2022 Jan;24(1):75-86. doi: 10.1016/j.gim.2021.08.011. Epub 2021 Nov 30. Genet Med. 2022. PMID: 34906475 Free PMC article.
A total of 159 distinct variants were identified in 425 patients in ABCC6, the gene responsible for pseudoxanthoma elasticum, a heritable multisystem ectopic mineralization disorder. The interpretation of variant pathogenicity relying on bioinformatic predictions …
A total of 159 distinct variants were identified in 425 patients in ABCC6, the gene responsible for pseudoxanthoma elasticum, …
Pseudoxanthoma elasticum.
Laube S, Moss C. Laube S, et al. Arch Dis Child. 2005 Jul;90(7):754-6. doi: 10.1136/adc.2004.062075. Arch Dis Child. 2005. PMID: 15970621 Free PMC article. Review.
Pseudoxanthoma elasticum (PXE) is a rare multisystem disorder characterised by progressive calcification and fragmentation of elastic fibres. ...The skin changes are usually apparent in adulthood, and rarely observed in childhood. Since the prognosis of PXE l …
Pseudoxanthoma elasticum (PXE) is a rare multisystem disorder characterised by progressive calcification and fragmentation of …
Mid-dermal elastolysis revisited.
Gambichler T. Gambichler T. Arch Dermatol Res. 2010 Mar;302(2):85-93. doi: 10.1007/s00403-009-1004-0. Arch Dermatol Res. 2010. PMID: 19936772 Review.
MDE is an acquired skin condition of the elastic tissue predominantly manifesting on the trunk and proximal extremities of young women. Most commonly observed skin changes include patches of well-circumscribed fine wrinkles (type I) and perifollicular papular protrusions ( …
MDE is an acquired skin condition of the elastic tissue predominantly manifesting on the trunk and proximal extremities of young women. Most …
ABCC6 and pseudoxanthoma elasticum.
Bergen AA, Plomp AS, Hu X, de Jong PT, Gorgels TG. Bergen AA, et al. Pflugers Arch. 2007 Feb;453(5):685-91. doi: 10.1007/s00424-005-0039-0. Epub 2006 Apr 8. Pflugers Arch. 2007. PMID: 16604369 Review.
Recently, it was shown that loss of function mutations in ABCC6 cause pseudoxanthoma elasticum (PXE) [Bergen et al. (2000) 25:228-2231; Le Saux et al. (2000) 25:223-227]. ...PXE patients usually have skin lesions and breaks in Bruch's membrane of the retina (angioid …
Recently, it was shown that loss of function mutations in ABCC6 cause pseudoxanthoma elasticum (PXE) [Bergen et al. (2000) 25: …
Genotype-phenotype correlation in pseudoxanthoma elasticum.
Bartstra JW, Risseeuw S, de Jong PA, van Os B, Kalsbeek L, Mol C, Baas AF, Verschuere S, Vanakker O, Florijn RJ, Hendrikse J, Mali W, Imhof S, Ossewaarde-van Norel J, van Leeuwen R, Spiering W. Bartstra JW, et al. Atherosclerosis. 2021 May;324:18-26. doi: 10.1016/j.atherosclerosis.2021.03.012. Epub 2021 Mar 13. Atherosclerosis. 2021. PMID: 33812167 Free article.
BACKGROUND AND AIMS: Pseudoxanthoma elasticum (PXE) is caused by variants in the ABCC6 gene. ...The mixed genotype was associated with lower peripheral (beta: 0.39, 95%CI:-0.62;-0.17) and total (beta: 0.28, 95%CI:-0.47;-0.10) arterial calcification mass scores …
BACKGROUND AND AIMS: Pseudoxanthoma elasticum (PXE) is caused by variants in the ABCC6 gene. ...The mixed genotype was associa …
Pseudoxanthoma elasticum: clinical phenotypes, molecular genetics and putative pathomechanisms.
Li Q, Jiang Q, Pfendner E, Váradi A, Uitto J. Li Q, et al. Exp Dermatol. 2009 Jan;18(1):1-11. doi: 10.1111/j.1600-0625.2008.00795.x. Epub 2008 Oct 22. Exp Dermatol. 2009. PMID: 19054062 Free PMC article. Review.
Pseudoxanthoma elasticum (PXE), a prototype of heritable multisystem disorders, is characterised by pathologic mineralisation of connective tissues, with primary clinical manifestations in the skin, eyes and the cardiovascular system. ...GGCX encodes a carboxylase w …
Pseudoxanthoma elasticum (PXE), a prototype of heritable multisystem disorders, is characterised by pathologic mineralisation …
Non-exudative macular neovascularization in pseudoxanthoma elasticum.
Marques JP, Bernardes J, Geada S, Soares M, Teixeira D, Farinha C, Pires I, Cachulo ML, Silva R. Marques JP, et al. Graefes Arch Clin Exp Ophthalmol. 2021 Apr;259(4):873-882. doi: 10.1007/s00417-020-04979-z. Epub 2020 Oct 19. Graefes Arch Clin Exp Ophthalmol. 2021. PMID: 33074374
PURPOSE: To characterize morphological changes in the retina and to report the frequency and natural history of non-exudative macular neovascularization (MNV) in a cohort of pseudoxanthoma elasticum (PXE). METHODS: A single-center, retrospective study was complement …
PURPOSE: To characterize morphological changes in the retina and to report the frequency and natural history of non-exudative macular neovas …
Clinical Characterization of Korean Patients with Pseudoxanthoma Elasticum and Angioid Streaks.
Jin KW, Joo K, Woo SJ. Jin KW, et al. Genes (Basel). 2021 Aug 4;12(8):1207. doi: 10.3390/genes12081207. Genes (Basel). 2021. PMID: 34440381 Free PMC article.
This study aimed to characterize Korean patients with pseudoxanthoma elasticum (PXE) presenting with angioid streaks. Retinal phenotypes were longitudinally evaluated by multimodal ophthalmic imaging, and targeted gene panel sequencing for inherited retinal diseases …
This study aimed to characterize Korean patients with pseudoxanthoma elasticum (PXE) presenting with angioid streaks. Retinal …
Electrodiagnostic Biomarkers in Paraneoplastic Retinopathy.
Gougoulakis LS, Rothermundt C, Flynn MC, Jörger M, Todorova MG. Gougoulakis LS, et al. Klin Monbl Augenheilkd. 2024 Apr;241(4):510-524. doi: 10.1055/a-2227-3970. Epub 2024 Apr 23. Klin Monbl Augenheilkd. 2024. PMID: 38653300 English.
The present study aims to determine the electrodiagnostic biomarkers that support the diagnosis of PNR and evaluate the effect of treatment. METHODS: A retrospective observational case-controlled study including 25 patients with suspected PNR, of which 11 patients were dia …
The present study aims to determine the electrodiagnostic biomarkers that support the diagnosis of PNR and evaluate the effect of treatment. …
ANGIOID STREAKS: A Comprehensive Review From Pathophysiology to Treatment.
Chatziralli I, Saitakis G, Dimitriou E, Chatzirallis A, Stoungioti S, Theodossiadis G, Theodossiadis P. Chatziralli I, et al. Retina. 2019 Jan;39(1):1-11. doi: 10.1097/IAE.0000000000002327. Retina. 2019. PMID: 30260918 Review.
RESULTS: Angioid streaks are crack-like dehiscences of Bruch membrane, which may coexist with systemic diseases, such as pseudoxanthoma elasticum, Paget disease, Ehlers-Danlos syndrome, hemoglobinopathies, or other diseases of the collagen. ...Choroidal neovasculari …
RESULTS: Angioid streaks are crack-like dehiscences of Bruch membrane, which may coexist with systemic diseases, such as pseudoxanthoma …
190 results