Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 39 Records) |
| Query Trace: Pseudoxanthoma Elasticum and ABCC6[original query] |
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| Pseudoxanthoma elasticum: genetic variations in antioxidant genes are risk factors for early disease onset. Clinical chemistry 2007 Oct 53 (10): 1734-40. Zarbock Ralf, Hendig Doris, Szliska Christiane, Kleesiek Knut, Götting Christi |
| Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum. Journal of medical genetics 2007 Oct 44 (10): 621-8. Pfendner Ellen G, Vanakker Olivier M, Terry Sharon F, Vourthis Sophia, McAndrew Patricia E, McClain Monica R, Fratta Sarah, Marais Anna-Susan, Hariri Susan, Coucke Paul J, Ramsay Michele, Viljoen Denis, Terry Patrick F, De Paepe Anne, Uitto Jouni, Bercovitch Lionel |
| Elevated serum levels of intercellular adhesion molecule ICAM-1 in Pseudoxanthoma elasticum. Clinica chimica acta; international journal of clinical chemistry 2008 Aug 394 (1-2): 54-8. Hendig Doris, Adam Alexandra, Zarbock Ralf, Szliska Christiane, Kleesiek Knut, Götting Christi |
| Circulating P-, L- and E-selectins in pseudoxanthoma elasticum patients. Clinical biochemistry 2008 Apr 41 (6): 368-74. Götting Christian, Adam Alexandra, Szliska Christiane, Kleesiek Kn |
| Vascular endothelial growth factor gene polymorphisms as prognostic markers for ocular manifestations in pseudoxanthoma elasticum. Human molecular genetics 2009 Sep 18 (17): 3344-51. Zarbock Ralf, Hendig Doris, Szliska Christiane, Kleesiek Knut, Götting Christi |
| Novel mutations of ABCC6 gene in Japanese patients with Angioid streaks. Biochemical and biophysical research communications 2009 Mar 380 (3): 548-53. Sato Naoyuki, Nakayama Tomohiro, Mizutani Yoshihiro, Yuzawa Mitsu |
| The R1141X loss-of-function mutation of the ABCC6 gene is a strong genetic risk factor for coronary artery disease. Genetic testing and molecular biomarkers 2010 Feb 14 (1): 75-8. Köblös Gabriella, Andrikovics Hajnalka, Prohászka Zoltán, Tordai Attila, Váradi András, Arányi Tam |
| Pseudoxanthoma elasticum: Wide phenotypic variation in homozygotes and no signs in heterozygotes for the c.3775delT mutation in ABCC6. Genetics in medicine : official journal of the American College of Medical Genetics 2009 Dec 11 (12): 852-8. Plomp Astrid S, Bergen Arthur A B, Florijn Ralph J, Terry Sharon F, Toonstra Johan, van Dijk Marijke R, de Jong Paulus T V |
| Analysis of MMP2 promoter polymorphisms in patients with pseudoxanthoma elasticum. Clinica chimica acta; international journal of clinical chemistry 2010 Oct 411 (19-20): 1487-90. Zarbock Ralf, Hendig Doris, Szliska Christiane, Kleesiek Knut, Götting Christi |
| Heterozygosity for R1141X in ABCC6 and risk of ischemic vascular disease. Circulation. Cardiovascular genetics 2011 Oct 4 (5): 534-41. Hornstrup Louise S, Tybjærg-Hansen Anne, Haase Christiane L, Nordestgaard Børge G, Sillesen Henrik, Grande Peer, Frikke-Schmidt Ru |
| Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6. American journal of human genetics 2012 Jan 90 (1): 25-39. Nitschke Yvonne, Baujat Geneviève, Botschen Ulrike, Wittkampf Tanja, du Moulin Marcel, Stella Jacqueline, Le Merrer Martine, Guest Geneviève, Lambot Karen, Tazarourte-Pinturier Marie-Frederique, Chassaing Nicolas, Roche Olivier, Feenstra Ilse, Loechner Karen, Deshpande Charu, Garber Samuel J, Chikarmane Rashmi, Steinmann Beat, Shahinyan Tatevik, Martorell Loreto, Davies Justin, Smith Wendy E, Kahler Stephen G, McCulloch Mignon, Wraige Elizabeth, Loidi Lourdes, Höhne Wolfgang, Martin Ludovic, Hadj-Rabia Smaïl, Terkeltaub Robert, Rutsch Fra |
| Efficiency of exome sequencing for the molecular diagnosis of pseudoxanthoma elasticum. The Journal of investigative dermatology 2015 Apr 135 (4): 992-8. Hosen Mohammad J, Van Nieuwerburgh Filip, Steyaert Wouter, Deforce Dieter, Martin Ludovic, Leftheriotis Georges, De Paepe Anne, Coucke Paul J, Vanakker Olivier |
| Copy number variation in the ATP-binding cassette transporter ABCC6 gene and ABCC6 pseudogenes in patients with pseudoxanthoma elasticum. Molecular genetics & genomic medicine 2015 May 3 (3): 233-7. Kringen Marianne K, Stormo Camilla, Berg Jens Petter, Terry Sharon F, Vocke Christine M, Rizvi Samar, Hendig Doris, Piehler Armin |
| Genetic heterogeneity of pseudoxanthoma elasticum: the Chinese signature profile of ABCC6 and ENPP1 mutations. The Journal of investigative dermatology 2015 May 135 (5): 1294-302. Jin Liang, Jiang Qiujie, Wu Zhengsheng, Shao Changxia, Zhou Yong, Yang Luting, Uitto Jouni, Wang Ga |
| Visual loss and presumed pseudoxanthoma elasticum confirmed with genetic analysis but not with skin examination and biopsies. GMS ophthalmology cases 2016 9 1 Doc03. Aerts Carolien, De Keyser Christophe, Leys Ani |
| Pseudoxanthoma Elasticum - Also a Lung Disease? The Respiratory Affection of Patients with Pseudoxanthoma Elasticum. PloS one 2016 11 (9): e0162337. Pingel Simon, Passon Sebastian Gorgonius, Pausewang Kristin Solveig, Blatzheim Anna Katharina, Pizarro Carmen, Tuleta Izabela, Gliem Martin, Charbel Issa Peter, Schahab Nadjib, Nickenig Georg, Skowasch Dirk, Schaefer Christian Alexand |
| ABCC6 Gene Analysis in 20 Japanese Patients with Angioid Streaks Revealing Four Frequent and Two Novel Variants and Pseudodominant Inheritance. Journal of ophthalmology 2017 9 2017 1079687. Katagiri Satoshi, Negishi Yuya, Mizobuchi Kei, Urashima Mitsuyoshi, Nakano Tadashi, Hayashi Takaa |
| Analysis of clinical symptoms and ABCC6 mutations in 76 Japanese patients with pseudoxanthoma elasticum. The Journal of dermatology 2017 Feb . Iwanaga Akira, Okubo Yumi, Yozaki Mariko, Koike Yuta, Kuwatsuka Yutaka, Tomimura Saori, Yamamoto Yosuke, Tamura Hiroshi, Ikeda Satoshi, Maemura Koji, Tsuiki Eiko, Kitaoka Takashi, Endo Yuichiro, Mishima Hiroyuki, Yoshiura Koh-Ichiro, Ogi Tomoo, Tanizaki Hideaki, Wataya-Kaneda Mari, Hattori Tomoyasu, Utani Atsus |
| [Vascular calcification in pseudoxanthoma elasticum in children]. Journal de medecine vasculaire 2017 12 42 (6): 333-337. Dibi A, Mouane N, El Fahime E, Dafiri R, Bentahila |
| Mutation spectrum in the ABCC6 gene and genotype-phenotype correlations in a French cohort with pseudoxanthoma elasticum. Genetics in medicine : official journal of the American College of Medical Genetics 2017 08 19 (8): 909-917. Legrand Anne, Cornez Laurence, Samkari Wafa, Mazzella Jean-Michael, Venisse Annabelle, Boccio Valérie, Auribault Karine, Keren Boris, Benistan Karelle, Germain Dominique P, Frank Michael, Jeunemaitre Xavier, Albuisson Juliet |
| ABCC6 Deficiency Promotes Development of Randall Plaque. Journal of the American Society of Nephrology : JASN 2018 Sep 29 (9): 2337-2347. Letavernier Emmanuel, Kauffenstein Gilles, Huguet Léa, Navasiolava Nastassia, Bouderlique Elise, Tang Ellie, Delaitre Léa, Bazin Dominique, de Frutos Marta, Gay Clément, Perez Joëlle, Verpont Marie-Christine, Haymann Jean-Philippe, Pomozi Viola, Zoll Janna, Le Saux Olivier, Daudon Michel, Leftheriotis Georges, Martin Ludov |
| Rare Modifier Variants Alter the Severity of Cardiovascular Disease in Pseudoxanthoma Elasticum: Identification of Novel Candidate Modifier Genes and Disease Pathways Through Mixture of Effects Analysis. Frontiers in cell and developmental biology 2021 6 9 612581. De Vilder Eva Y G, Martin Ludovic, Lefthériotis Georges, Coucke Paul, Van Nieuwerburgh Filip, Vanakker Olivier |
| Clinical and Genetic Heterogeneity in a Large Family with Pseudoxanthoma Elasticum: MTHFR and SERPINE1 Variants as Possible Disease Modifiers in Developing Ischemic Stroke. Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association 2021 4 30 (6): 105744. Bruno Giorgia, Ritelli Marco, Di Pietro Andrea, Cipriano Lorenzo, Colombi Marina, Lus Giacomo, Puoti Gianfran |
| Genotype-phenotype correlation in pseudoxanthoma elasticum. Atherosclerosis 2021 4 324 18-26. Bartstra Jonas W, Risseeuw Sara, de Jong Pim A, van Os Bram, Kalsbeek Lianne, Mol Chris, Baas Annette F, Verschuere Shana, Vanakker Olivier, Florijn Ralph J, Hendrikse Jeroen, Mali Willem, Imhof Saskia, Ossewaarde-van Norel Jeannette, van Leeuwen Redmer, Spiering Wil |
| Various vascular malformations are prevalent in Finnish pseudoxanthoma elasticum (PXE) patients: a national registry study. Orphanet journal of rare diseases 2022 5 17 (1): 185. Pelttari Saku, Väärämäki Suvi, Vanakker Olivier, Verschuere Shana, Uusitalo Hannu, Huhtala Heini, Hinkka Tero, Pörsti Ilkka, Nevalainen Pasi |
| Pulmonary affection of patients with Pseudoxanthoma elasticum: Long-term development and genotype-phenotype-correlation. Intractable & rare diseases research 2022 3 11 (1): 7-14. Stumpf Max Jonathan, Schaefer Christian Alexander, Mahn Thorsten, Wolf Anna Elisabeth, Biener Leonie, Hendig Doris, Nickenig Georg, Schahab Nadjib, Pizarro Carmen, Skowasch Di |
| The pathogenic c.1171A>G (p.Arg391Gly) and c.2359G>A (p.Val787Ile) ABCC6 variants display incomplete penetrance causing pseudoxanthoma elasticum in a subset of individuals. Human mutation 2022 11 43 (12): 1872-1881. Szeri Flora, Miko Agnes, Navasiolava Nastassia, Kaposi Ambrus, Verschuere Shana, Molnar Beatrix, Li Qiaoli, Terry Sharon F, Boraldi Federica, Uitto Jouni, van de Wetering Koen, Martin Ludovic, Quaglino Daniela, Vanakker Olivier M, Tory Kalman, Aranyi Tam |
| Inorganic Pyrophosphate Plasma Levels Are Decreased in Pseudoxanthoma Elasticum Patients and Heterozygous Carriers but Do Not Correlate with the Genotype or Phenotype. Journal of clinical medicine 2023 3 12 (5): . Van Gils Matthias, Depauw Justin, Coucke Paul J, Aerts Shari, Verschuere Shana, Nollet Lukas, Vanakker Olivier |
| Plasma Level of Pyrophosphate Is Low in Pseudoxanthoma Elasticum Owing to Mutations in the ABCC6 Gene, but It Does Not Correlate with ABCC6 Genotype. Journal of clinical medicine 2023 2 12 (3): . Kozák Eszter, Bartstra Jonas W, de Jong Pim A, Mali Willem P T M, Fülöp Krisztina, T?kési Natália, Pomozi Viola, Risseeuw Sara, Norel Jeannette Ossewaarde-van, van Leeuwen Redmer, Váradi András, Spiering Wil |
| Plasma lipids in Pseudoxanthoma Elasticum (PXE) patients: A comparative study with population-based reference values and Non-PXE controls. Atherosclerosis plus 2024 1 55 5-11. Iris M Harmsen, Frank L J Visseren, Madeleine Kok, Pim A de Jong, Wilko Spieri |
- Page last reviewed:Feb 1, 2024
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