HuGE Literature Finder
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| 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 |
| SMAD4 mutation and the combined juvenile polyposis and hereditary hemorrhage telangiectasia syndrome: a single center experience. International journal of colorectal disease 2020 6 35 (10): 1963-1965. McDonald Nicholas M, Ramos Guilherme Piovezani, Sweetser Se |
| 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 |
| 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 |
| 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 |
| 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 |
| 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, |
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