Human Genome Epidemiology Literature Finder
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Records 1 - 8 (of 8 Records) |
| Query Trace: Syndrome and ELN[original query] |
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| Williams-Beuren syndrome: diagnosis by polymorphic markers. Genetic testing and molecular biomarkers 2010 Apr 14 (2): 209-14. Sbruzzi Ivanete C, Pereira Alexandre C, Vasconcelos Beatriz, Honjo Raquel S, Krieger José E, Kim Chong |
| Lack of association of polymorphisms in elastin with pseudoexfoliation syndrome and glaucoma. Journal of glaucoma 2010 Sep 19 (7): 432-6. Fan Bao Jian, Figuieredo Sena Dayse R, Pasquale Louis R, Grosskreutz Cynthia L, Rhee Douglas J, Chen Teresa C, Delbono Elizabeth A, Haines Jonathan L, Wiggs Janey |
| Spectrum of elastin sequence variants and cardiovascular phenotypes in 49 patients with Williams-Beuren syndrome. American journal of medical genetics. Part A 2013 Mar 161A (3): 527-33. Delio Maria, Pope Kathleen, Wang Tao, Samanich Joy, Haldeman-Englert Chad R, Kaplan Paige, Shaikh Tamim H, Cai Jinlu, Marion Robert W, Morrow Bernice E, Babcock Melan |
| Whole Exome Sequencing Reveals a Monogenic Cause of Disease in ?43% of 35 Families With Midaortic Syndrome. Hypertension (Dallas, Tex. : 1979) 2018 2 71 (4): 691-699. Warejko Jillian K, Schueler Markus, Vivante Asaf, Tan Weizhen, Daga Ankana, Lawson Jennifer A, Braun Daniela A, Shril Shirlee, Amann Kassaundra, Somers Michael J G, Rodig Nancy M, Baum Michelle A, Daouk Ghaleb, Traum Avram Z, Kim Heung Bae, Vakili Khashayar, Porras Diego, Lock James, Rivkin Michael J, Chaudry Gulraiz, Smoot Leslie B, Singh Michael N, Smith Edward R, Mane Shrikant M, Lifton Richard P, Stein Deborah R, Ferguson Michael A, Hildebrandt Friedhe |
| Williams-Beuren syndrome in Mexican patients confirmed by FISH and assessed by aCGH. Journal of genetics 2019 6 98 (2): . Ramírez-Velazco Azubel, Aguayo-Orozco Thania Alejandra, Figuera Luis, Rivera Horacio, Jave-Suárez Luis, Aguilar-Lemarroy Adriana, Torres-Reyes Luis A, Córdova-Fletes Carlos, Barros-Núñez Patricio, Delgadillo-Pérez Saturnino, Dávalos-Rodríguez Ingrid Patricia, García-Ortiz José Elías, Domínguez María |
| Genetics of renovascular hypertension in children. Journal of hypertension 2020 Oct 38 (10): 1964-1970. Viering Daan H H M, Chan Melanie M Y, Hoogenboom Lieke, Iancu Daniela, de Baaij Jeroen H F, Tullus Kjell, Kleta Robert, Bockenhauer Detl |
| Splicing factor gene mutations in acute myeloid leukemia offer additive value if incorporated in current risk classification. Blood advances 2021 8 5 (17): 3254-3265. van der Werf Inge, Wojtuszkiewicz Anna, Meggendorfer Manja, Hutter Stephan, Baer Constance, Heymans Martijn, Valk Peter J M, Kern Wolfgang, Haferlach Claudia, Janssen Jeroen J W M, Ossenkoppele Gert J, Cloos Jacqueline, Haferlach Torst |
| Interaction between myelodysplasia-related gene mutations and ontogeny in acute myeloid leukemia. Blood advances 2023 5 . Joseph G W McCarter, David Nemirovsky, Christopher A Famulare, Noushin Farnoud, Abhinita S Mohanty, Zoe S Stone-Molloy, Jordan Chervin, Brian J Ball, Zachary D Epstein-Peterson, Maria E Arcila, Aaron J Stonestrom, Andrew Dunbar, Sheng F Cai, Jacob L Glass, Mark B Geyer, Raajit K Rampal, Ellin Berman, Omar I Abdel-Wahab, Eytan M Stein, Martin S Tallman, Ross L Levine, Aaron D Goldberg, Elli Papaemmanuil, Yanming Zhang, Mikhail Roshal, Andriy Derkach, Wenbin Xi |
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