HuGE Literature Finder
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Records 1-22
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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SPP1 promoter polymorphisms: identification of the first modifier gene for pseudoxanthoma elasticum.
Clinical chemistry 2007 May 53 (5): 829-36. Hendig Doris, Arndt Marius, Szliska Christiane, Kleesiek Knut, Götting Christi |
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Mutational analysis of the ABCC6 gene and the proximal ABCC6 gene promoter in German patients with pseudoxanthoma elasticum (PXE).
Human mutation 2006 Aug 27 (8): 831. Schulz Veronika, Hendig Doris, Henjakovic Maja, Szliska Christiane, Kleesiek Knut, Götting Christi |
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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.
Laboratory investigation; a journal of technical methods and pathology 2004 Jan 84 (1): 122-30. Götting Christian, Schulz Veronika, Hendig Doris, Grundt Alexander, Dreier Jens, Szliska Christiane, Brinkmann Thomas, Kleesiek Kn |
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Efficient molecular diagnostic strategy for ABCC6 in pseudoxanthoma elasticum.
Genetic testing 2004 8 (3): 292-300. Hu Xiaofeng, Plomp Astrid, Gorgels Theo, Brink Jacoline Ten, Loves Willem, Mannens Marcel, de Jong Paulus T V M, Bergen Arthur A |
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Frequent mutation in the ABCC6 gene (R1141X) is associated with a strong increase in the prevalence of coronary artery disease.
Circulation 2002 Aug 106 (7): 773-5. Trip Mieke D, Smulders Yvo M, Wegman Jurgen J, Hu Xiaofeng, Boer Jolanda M A, ten Brink Jacoline B, Zwinderman Aeilko H, Kastelein John J P, Feskens Edith J M, Bergen Arthur A |
- Page last reviewed:Jul 30, 2019
- Page last updated:Aug 22, 2019
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