Human Genome Epidemiology Literature Finder
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Records 1 - 25 (of 25 Records) |
| Query Trace: Arteriovenous Malformations and ENG[original query] |
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| Genetic epidemiology of hereditary hemorrhagic telangiectasia in a local community in the northern part of Japan. Human mutation 2002 Feb 19 (2): 140-8. Dakeishi Miwako, Shioya Takanobu, Wada Yasuhiko, Shindo Tsutomu, Otaka Kousei, Manabe Motomu, Nozaki Jun-Ichi, Inoue Sumiko, Koizumi Ak |
| Polymorphisms in transforming growth factor-beta-related genes ALK1 and ENG are associated with sporadic brain arteriovenous malformations. Stroke; a journal of cerebral circulation 2005 Oct 36 (10): 2278-80. Pawlikowska Ludmila, Tran Mary N, Achrol Achal S, Ha Connie, Burchard Esteban, Choudhry Shweta, Zaroff Jonathan, Lawton Michael T, Castro Richard, McCulloch Charles E, Marchuk Douglas, Kwok Pui-Yan, Young William L, |
| Novel mutations in ENG and ACVRL1 identified in a series of 200 individuals undergoing clinical genetic testing for hereditary hemorrhagic telangiectasia (HHT): correlation of genotype with phenotype. Human mutation 2006 Jul 27 (7): 667-75. Bossler Aaron D, Richards Jennifer, George Cicily, Godmilow Lynn, Ganguly Aru |
| Association of a polymorphism of the ACVRL1 gene with sporadic arteriovenous malformations of the central nervous system. Journal of neurosurgery 2006 Jun 104 (6): 945-9. Simon Matthias, Franke Daniel, Ludwig Michael, Aliashkevich Ales F, Köster Gertraud, Oldenburg Johannes, Boström Azize, Ziegler Andreas, Schramm Johann |
| Distribution of ENG and ACVRL1 (ALK1) mutations in French HHT patients. Human mutation 2006 Jun 27 (6): 598. Lesca Gaëtan, Burnichon Nelly, Raux Grégory, Tosi Mario, Pinson Stéphane, Marion Marie-Jeanne, Babin Emmanuel, Gilbert-Dussardier Brigitte, Rivière Sophie, Goizet Cyril, Faivre Laurence, Plauchu Henri, Frébourg Thierry, Calender Alain, Giraud Sophie, |
| Hereditary hemorrhagic telangiectasia: clinical features in ENG and ALK1 mutation carriers. Journal of thrombosis and haemostasis : JTH 2007 Jun 5 (6): 1149-57. Sabbà C, Pasculli G, Lenato G M, Suppressa P, Lastella P, Memeo M, Dicuonzo F, Guant |
| Detection of a significant association between mutations in the ACVRL1 gene and hepatic involvement in German patients with hereditary haemorrhagic telangiectasia. Clinical genetics 2008 Aug 74 (2): 171-7. Brakensiek K, Frye-Boukhriss H, Mälzer M, Abramowicz M, Bahr M J, von Beckerath N, Bergmann C, Caselitz M, Holinski-Feder E, Muschke P, Oexle K, Strobl-Wildemann G, Wolff G, El-Harith E A, Stuhrmann |
| Mutation analysis of "Endoglin" and "Activin receptor-like kinase" genes in German patients with hereditary hemorrhagic telangiectasia and the value of rapid genotyping using an allele-specific PCR-technique. BMC medical genetics 2009 10 (1): 53. Sadick Haneen, Hage Johanna, Goessler Ulrich, Stern-Straeter Jens, Riedel Frank, Hoermann Karl, Bugert Pet |
| Brain arteriovenous malformations associated with hereditary hemorrhagic telangiectasia: gene-phenotype correlations. American journal of medical genetics. Part A 2012 Sep . Nishida T, Faughnan ME, Krings T, Chakinala M, Gossage JR, Young WL, Kim H, Pourmohamad T, Henderson KJ, Schrum SD, James M, Quinnine N, Bharatha A, Terbrugge KG, White RI |
| National mutation study among Danish patients with hereditary haemorrhagic telangiectasia. Clinical genetics 2014 Aug 86 (2): 123-33. Tørring P M, Brusgaard K, Ousager L B, Andersen P E, Kjeldsen A |
| Polymorphisms in ACVRL1 and endoglin genes are not associated with sporadic and HHT-related brain AVMs in Dutch patients. Translational stroke research 2013 Jun 4 (3): 375-8. Boshuisen Kim, Brundel Manon, de Kovel Carolien G F, Letteboer Tom G, Rinkel Gabriel J E, Westermann Cornelis J J, Kim Helen, Pawlikowska Ludmila, Koeleman Bobby P C, Klijn Catharina J |
| The ACVRL1 c.314-35A>G polymorphism is associated with organ vascular malformations in hereditary hemorrhagic telangiectasia patients with ENG mutations, but not in patients with ACVRL1 mutations. American journal of medical genetics. Part A 2015 Jun 167 (6): 1262-7. Pawlikowska Ludmila, Nelson Jeffrey, Guo Diana E, McCulloch Charles E, Lawton Michael T, Young William L, Kim Helen, Faughnan Marie E, |
| Replication Study of Polymorphisms Associated With Brain Arteriovenous Malformation in a Population From South of Brazil. Cureus 2016 Feb 8 (2): e508. Franciscatto André Cerutti, Ludwig Fernanda S, Matte Ursula S, Mota Simone, Stefani Marco |
| Neurovascular Manifestations of Hereditary Hemorrhagic Telangiectasia: A Consecutive Series of 376 Patients during 15 Years. AJNR. American journal of neuroradiology 2016 Mar . Brinjikji W, Iyer V N, Yamaki V, Lanzino G, Cloft H J, Thielen K R, Swanson K L, Wood C |
| Characterization of pulmonary arteriovenous malformations in ACVRL1 versus ENG mutation carriers in hereditary hemorrhagic telangiectasia. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Oct . Mu Weiyi, Cordner Zachary A, Yuqi Wang Kevin, Reed Kate, Robinson Gina, Mitchell Sally, Lin Dor |
| Mutations in the ENG, ACVRL1, and SMAD4 genes and clinical manifestations of hereditary haemorrhagic telangiectasia: experience from the Center for Osler's Disease, Uppsala University Hospital. Upsala journal of medical sciences 2018 9 123 (3): 153-157. Karlsson Torbjörn, Cherif Hon |
| Functional analysis of a novel ENG variant in a patient with hereditary hemorrhagic telangiectasia (HHT) identifies a new Sp1 binding-site. Gene 2018 1 647 85-92. Plumitallo Sara, Ruiz-Llorente Lidia, Langa Carmen, Morini Jacopo, Babini Gabriele, Cappelletti Donata, Scelsi Laura, Greco Alessandra, Danesino Cesare, Bernabeu Carmelo, Olivieri Car |
| Phenotype of CM-AVM2 caused by variants in EPHB4: how much overlap with hereditary hemorrhagic telangiectasia (HHT)? Genetics in medicine : official journal of the American College of Medical Genetics 2019 Feb . Wooderchak-Donahue Whitney L, Akay Gulsen, Whitehead Kevin, Briggs Eric, Stevenson David A, O'Fallon Brendan, Velinder Matthew, Farrell Andrew, Shen Wei, Bedoukian Emma, Skrabann Cara M, Antaya Richard J, Henderson Kate, Pollak Jeffrey, Treat James, Day Ronald, Jacher Joseph E, Hannibal Mark, Bontempo Kelly, Marth Gabor, Bayrak-Toydemir Pinar, McDonald Jam |
| Sequence variations of ACVRL1 play a critical role in hepatic vascular malformations in hereditary hemorrhagic telangiectasia. Orphanet journal of rare diseases 2020 9 15 (1): 254. Giraud Sophie, Bardel Claire, Dupuis-Girod Sophie, Carette Marie-France, Gilbert-Dussardier Brigitte, Riviere Sophie, Saurin Jean-Christophe, Eyries Mélanie, Patri Sylvie, Decullier Evelyne, Calender Alain, Lesca Gaët |
| Genetic Variants and Clinical Phenotypes in Korean Patients With Hereditary Hemorrhagic Telangiectasia. Clinical and experimental otorhinolaryngology 2021 3 14 (4): 399-406. Kim Bo-Gyeong, Jung Joo-Hyun, Kim Mi-Jung, Moon Eun-Hye, Oh Jae-Hwan, Park Jung-Woo, Cha Heung-Eog, Kim Ju-Hyun, Kim Yoon-Jae, Chung Jun-Won, Hahm Ki-Baik, Jin Hong-Ryul, Jang Yong-Ju, Kim Sung Wan, Chung Seung-Kyu, Kim Dae-Woo, Lee Young Jae, Kim Seon-T |
| Clinical and molecular characterization of patients with hereditary hemorrhagic telangiectasia: Experience from an HHT Center of Excellence. American journal of medical genetics. Part A 2021 Mar . Latif Muhammad A, Sobreira Nara Lygia D, Guthrie Kelsey S, Motaghi Mina, Robinson Gina M, Shafaat Omid, Gong Anna J, Weiss Clifford |
| Identification and validation of a novel pathogenic variant in GDF2 (BMP9) responsible for hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations. American journal of medical genetics. Part A 2021 12 188 (3): 959-964. Balachandar Srimmitha, Graves Tamara J, Shimonty Anika, Kerr Katie, Kilner Jill, Xiao Sihao, Slade Richard, Sroya Manveer, Alikian Mary, Curetean Emanuel, Thomas Ellen, McConnell Vivienne P M, McKee Shane, Boardman-Pretty Freya, Devereau Andrew, Fowler Tom A, Caulfield Mark J, Alton Eric W, Ferguson Teena, Redhead Julian, McKnight Amy J, Thomas Geraldine A, , Aldred Micheala A, Shovlin Claire |
| Distribution of Cerebrovascular Phenotypes According to Variants of the ENG and ACVRL1 Genes in Subjects with Hereditary Hemorrhagic Telangiectasia. Journal of clinical medicine 2022 5 11 (10): . Gaetani Eleonora, Peppucci Elisabetta, Agostini Fabiana, Di Martino Luigi, Lucci Cordisco Emanuela, Sturiale Carmelo L, Puca Alfredo, Porfidia Angelo, Alexandre Andrea, Pedicelli Alessandro, Pola Rober |
| Unsupervised machine learning algorithms identify expected haemorrhage relationships but define unexplained coagulation profiles mapping to thrombotic phenotypes in hereditary haemorrhagic telangiectasia. EJHaem 2023 8 4 (3): 602-611. Ghazel Mukhtar, Claire L Shovl |
| Investigation of the Genetic Determinants of Telangiectasia and Solid Organ Arteriovenous Malformation Formation in Hereditary Hemorrhagic Telangiectasia (HHT). International journal of molecular sciences 2024 7 25 (14): . Kevin J Whitehead, Doruk Toydemir, Whitney Wooderchak-Donahue, Gretchen M Oakley, Bryan McRae, Angelica Putnam, Jamie McDonald, Pinar Bayrak-Toydem |
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