Human Genome Epidemiology Literature Finder
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Records 1 - 12 (of 12 Records) |
| Query Trace: Ehlers-Danlos Syndrome and COL3A1[original query] |
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| Mutation of ACTA2 gene as an important cause of familial and nonfamilial nonsyndromatic thoracic aortic aneurysm and/or dissection (TAAD). Human mutation 2009 Oct 30 (10): 1406-11. Morisaki Hiroko, Akutsu Koichi, Ogino Hitoshi, Kondo Norihiro, Yamanaka Itaru, Tsutsumi Yoshiaki, Yoshimuta Tsuyoshi, Okajima Toshiya, Matsuda Hitoshi, Minatoya Kenji, Sasaki Hiroaki, Tanaka Hiroshi, Ishibashi-Ueda Hatsue, Morisaki Takayu |
| Survival is affected by mutation type and molecular mechanism in vascular Ehlers-Danlos syndrome (EDS type IV). Genetics in medicine : official journal of the American College of Medical Genetics 2014 Dec 16 (12): 881-8. Pepin Melanie G, Schwarze Ulrike, Rice Kenneth M, Liu Mingdong, Leistritz Dru, Byers Peter |
| Targeted next-generation sequencing makes new molecular diagnoses and expands genotype-phenotype relationship in Ehlers-Danlos syndrome. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Mar . Weerakkody Ruwan A, Vandrovcova Jana, Kanonidou Christina, Mueller Michael, Gampawar Piyush, Ibrahim Yousef, Norsworthy Penny, Biggs Jennifer, Abdullah Abdulshakur, Ross David, Black Holly A, Ferguson David, Cheshire Nicholas J, Kazkaz Hanadi, Grahame Rodney, Ghali Neeti, Vandersteen Anthony, Pope F Michael, Aitman Timothy |
| Genetic basis of hereditary thoracic aortic aneurysms and dissections. Journal of cardiology 2019 4 74 (2): 136-143. Takeda Norifumi, Komuro Iss |
| Ehlers-Danlos syndrome type IV with a novel COL3A1 exon 14 skipping variation confirmed by Tohoku Medical Megabank Organization genomic database. The Journal of dermatology 2021 8 48 (12): 1918-1922. Shido Kosuke, Kojima Kaname, Yoshida-Akai Saaya, Kikuchi Katsuko, Hatamochi Atsushi, Aiba Setsuya, Yamasaki Kens |
| Rare functional genetic variants in COL7A1, COL6A5, COL1A2 and COL5A2 frequently occur in Chiari Malformation Type 1. PloS one 2021 16 (5): e0251289. Urbizu Aintzane, Garrett Melanie E, Soldano Karen, Drechsel Oliver, Loth Dorothy, Marcé-Grau Anna, Mestres I Soler Olga, Poca Maria A, Ossowski Stephan, Macaya Alfons, Loth Francis, Labuda Rick, Ashley-Koch Allis |
| Spontaneous Cervical Artery Dissection in Vascular Ehlers-Danlos Syndrome: A Cohort Study. Stroke 2021 3 52 (5): 1628-1635. Adham Salma, Billon Clarisse, Legrand Anne, Domigo Valérie, Denarié Nicolas, Charpentier Etienne, Jeunemaitre Xavier, Frank Micha |
| A patient with a novel pathogenic variant in COL5A1 exhibiting prominent vascular and cardiac features. American journal of medical genetics. Part A 2022 4 188 (7): 2192-2197. Lavanya Katta, Mahtani Karishma, Abbott Jessica, Jain Angita, Selvam Pavalan, Atwal Herjot, Farres Houssam, Atwal Paldeep |
| Vertebral Tortuosity Is Associated With Increased Rate of Cardiovascular Events in Vascular Ehlers-Danlos Syndrome. Journal of the American Heart Association 2023 9 12 (19): e029518. Sara B Stephens, Sherene Shalhub, Nicholas Dodd, Jesse Li, Michael Huang, Seitaro Oda, Kalyan Kancherla, Tam T Doan, Siddharth K Prakash, Justin D Weigand, Federico M Asch, Taylor Beecroft, Alana Cecchi, Teniola Shittu, Liliana Preiss, Scott A LeMaire, Richard B Devereux, Reed E Pyeritz, Kathryn W Holmes, Mary J Roman, Ronald V Lacro, Ralph V Shohet, Rajesh Krishnamurthy, Kim Eagle, Peter Byers, Dianna M Milewicz, Shaine A Morr |
| Endovascular repair of a common iliac artery aneurysm with an iliac branch device in a patient with vascular Ehlers-Danlos syndrome due to a null COL3A1 variant. Journal of vascular surgery cases and innovative techniques 2023 6 9 (2): 101192. Sherene Shalhub, Peter H Bye |
| Features of Vascular Ehlers-Danlos Syndrome Among Biobank Participants Harboring Predicted High-Risk COL3A1 Genotypes. Circulation. Genomic and precision medicine 2023 3 e003864. Lui Madeline M, Shadrina Mariya, Gelb Bruce D, Kontorovich Amy |
| Vascular Ehlers-Danlos Syndrome: A Comprehensive Natural History Study in a Dutch National Cohort of 142 Patients. Circulation. Genomic and precision medicine 2024 4 e003978. Serwet Demirdas, Lisa M van den Bersselaar, Rosan Lechner, Jessica Bos, Suzanne I M Alsters, Marieke J H Baars, Annette F Baas, Özlem Baysal, Saskia N van der Crabben, Eelco Dulfer, Noor A A Giesbertz, Apollonia T J M Helderman-van den Enden, Yvonne Hilhorst-Hofstee, Marlies J E Kempers, Fenne L Komdeur, Bart Loeys, Daniëlle Majoor-Krakauer, Charlotte W Ockeloen, Eline Overwater, Peter J van Tintelen, Marsha Voorendt, Vivian de Waard, Alessandra Maugeri, Hennie T Brüggenwirth, Ingrid M B H van de Laar, Arjan C Houweli |
- Page last reviewed:Feb 1, 2024
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