Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 58 Records) |
Query Trace: ABCC6[original query] |
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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 |
A novel ABCC6 haplotype is associated with azathioprine drug response in myasthenia gravis. Pharmacogenetics and genomics 2017 Feb 27 (2): 51-56. Colleoni Lara, Galbardi Barbara, Barzago Claudia, Bonanno Silvia, Franzi Sara, Frangiamore Rita, Camera Giorgia, Foti Maria, Biancolini Donatella, Canioni Eleonora, Maggi Lorenzo, Antozzi Carlo, Mantegazza Renato, Bernasconi Pia, Kapetis Dim |
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 |
Genetic diagnosis of acute aortic dissection in South China Han population using next-generation sequencing. International journal of legal medicine 2018 7 132 (5): 1273-1280. Zheng Jinxiang, Guo Jian, Huang Lei, Wu Qiuping, Yin Kun, Wang Lin, Zhang Tongda, Quan Li, Zhao Qianhao, Cheng Jiandi |
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 |
Irinotecan toxicity during treatment of metastatic colorectal cancer: focus on pharmacogenomics and personalized medicine. Tumori 2018 12 106 (2): 87-94. Paulík Adam, Nekvindová Jana, Filip Stanisl |
Aristolochic acid containing herbs induce gender-related oncological differences in upper tract urothelial carcinoma patients. Cancer management and research 2018 12 10 6627-6639. Xiong Gengyan, Yao Lin, Hong Peng, Yang Li, Ci Weimin, Liu Libo, He Qun, Gong Kan, Li Xuesong, Zhou Liq |
Genetic variants in cardiac calcification in Northern Sweden. Medicine 2019 4 98 (15): e15065. Hellman Urban, Mörner Stellan, Henein Micha |
Global Assessment of Mendelian Stroke Genetic Prevalence in 101 635 Individuals From 7 Ethnic Groups. Stroke 2020 Feb STROKEAHA119028840. Grami Nickrooz, Chong Michael, Lali Ricky, Mohammadi-Shemirani Pedrum, Henshall David E, Rannikmäe Kristiina, Paré Guillau |
Rare genetic variants in patients with cervical artery dissection. European stroke journal 2020 1 4 (4): 355-362. Traenka Christopher, Kloss Manja, Strom Tim, Lyrer Philippe, Brandt Tobias, Bonati Leo H, Grond-Ginsbach Caspar, Engelter Stef |
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 |
Diverse Genetic Landscape of Suspected Retinitis Pigmentosa in a Large Korean Cohort. Genes 2021 5 12 (5): . Kim Yoon-Jeon, Kim You-Na, Yoon Young-Hee, Seo Eul-Ju, Seo Go-Hun, Keum Changwon, Lee Beom-Hee, Lee Joo-Yo |
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 |
Targeted copy number variant identification across the neurodegenerative disease spectrum. Molecular genetics & genomic medicine 2022 Jun e1986. Dilliott Allison A, Zhang Kristina K, Wang Jian, Abrahao Agessandro, Binns Malcolm A, Black Sandra E, Borrie Michael, Dowlatshahi Dar, Finger Elizabeth, Fischer Corinne E, Frank Andrew, Freedman Morris, Grimes David, Hassan Ayman, Jog Mandar, Kumar Sanjeev, Lang Anthony E, Mandzia Jennifer, Masellis Mario, Pasternak Stephen H, Pollock Bruce G, Rajji Tarek K, Rogaeva Ekaterina, Sahlas Demetrios J, Saposnik Gustavo, Sato Christine, Seitz Dallas, Shoesmith Christen, Steeves Thomas D L, Swartz Richard H, Tan Brian, Tang-Wai David F, Tartaglia Maria C, Turnbull John, Zinman Lorne, , Hegele Robert |
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 |
Two genetic variants in NEXN and ABCC6 genes found in a patient with right coronary artery to right ventricle fistula combined with giant coronary aneurysm and patent ductus arteriosus. Frontiers in cardiovascular medicine 2022 12 9 1048795. Peng Yongxuan, Ye Jiajun, Xu Yuejuan, Huang Jihong, Wu Yurong, Liu Wei, Bai Kai, Chen Sun, Lu Yan |
Prevalence of Mutations in Mendelian Stroke Genes in Early Onset Stroke Patients. Annals of neurology 2022 12 . Park Hong-Kyun, Lee Keon-Joo, Park Jong-Moo, Kang Kyusik, Lee Soo Joo, Kim Jae Guk, Cha Jae-Kwan, Kim Dae-Hyun, Han Moon-Ku, Kang Jihoon, Kim Beom Joon, Park Tai Hwan, Park Moo-Seok, Lee Kyung Bok, Lee Jun, Hong Keun-Sik, Cho Yong-Jin, Lee Byung-Chul, Yu Kyung-Ho, Oh Mi Sun, Kim Joon-Tae, Choi Kang-Ho, Kim Dong-Eog, Ryu Wi-Sun, Choi Jay Chol, Kwon Jee-Hyun, Kim Wook-Joo, Shin Dong-Ick, Sohn Sung Il, Hong Jeong-Ho, Lee Juneyoung, Lee Kyunghoon, Song Junghan, Bae Joon Seol, Cheong Hyun Sub, Debette Stéphanie, Bae Hee-Jo |
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 |
High frequency of HTRA1 AND ABCC6 mutations in Japanese patients with adult-onset cerebral small vessel disease. Journal of neurology, neurosurgery, and psychiatry 2022 10 94 (1): 74-81. Uemura Masahiro, Hatano Yuya, Nozaki Hiroaki, Ando Shoichiro, Kondo Hajime, Hanazono Akira, Iwanaga Akira, Murota Hiroyuki, Osakada Yosuke, Osaki Masato, Kanazawa Masato, Kanai Mitsuyasu, Shibata Yoko, Saika Reiko, Miyatake Tadashi, Aizawa Hitoshi, Ikeuchi Takeshi, Tomimoto Hidekazu, Mizuta Ikuko, Mizuno Toshiki, Ishihara Tomohiko, Onodera Osa |
Rare neurovascular genetic and imaging markers across neurodegenerative diseases. Alzheimer's & dementia : the journal of the Alzheimer's Association 2023 6 . Allison A Dilliott, Stephanie A Berberian, Kelly M Sunderland, Malcolm A Binns, Julia Zimmer, Miracle Ozzoude, Christopher J M Scott, Fuqiang Gao, Anthony E Lang, David P Breen, Maria C Tartaglia, Brian Tan, Richard H Swartz, Ekaterina Rogaeva, Michael Borrie, Elizabeth Finger, Corinne E Fischer, Andrew Frank, Morris Freedman, Sanjeev Kumar, Stephen Pasternak, Bruce G Pollock, Tarek K Rajji, David F Tang-Wai, Agessandro Abrahao, John Turnbull, Lorne Zinman, Leanne Casaubon, Dar Dowlatshahi, Ayman Hassan, Jennifer Mandzia, Demetrios Sahlas, Gustavo Saposnik, David Grimes, Connie Marras, Thomas Steeves, Mario Masellis, Sali M K Farhan, Robert Bartha, Sean Symons, Robert A Hegele, Sandra E Black, Joel Ramirez, |
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 |
Rare copy-number variants as modulators of common disease susceptibility. Genome medicine 2024 1 16 (1): 5. Chiara Auwerx, Maarja Jõeloo, Marie C Sadler, Nicolò Tesio, Sven Ojavee, Charlie J Clark, Reedik Mägi, , Alexandre Reymond, Zoltán Kutal |
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
- Page last updated:Apr 22, 2024
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