Human Genome Epidemiology Literature Finder
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Records 1 - 29 (of 29 Records) |
| Query Trace: Disease and ACVRL1[original query] |
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| 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 |
| 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, |
| 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 |
| Evaluation of previously nonscreened hereditary hemorrhagic telangiectasia patients shows frequent liver involvement and early cardiac consequences. Hepatology (Baltimore, Md.) 2008 Nov 48 (5): 1570-6. Gincul Rodica, Lesca Gaetan, Gelas-Dore Bénédicte, Rollin Nathalie, Barthelet Martine, Dupuis-Girod Sophie, Pilleul Franck, Giraud Sophie, Plauchu Henri, Saurin Jean-Christop |
| Identification of genetic polymorphisms associated with risk for pulmonary hypertension in sickle cell disease. Blood 2008 Jun 111 (12): 5721-6. Ashley-Koch Allison E, Elliott Laine, Kail Melanie E, De Castro Laura M, Jonassaint Jude, Jackson Terry L, Price Jennifer, Ataga Kenneth I, Levesque Marc C, Weinberg J Brice, Orringer Eugene P, Collins Ann, Vance Jeffery M, Telen Marilyn |
| Clinical outcomes of pulmonary arterial hypertension in patients carrying an ACVRL1 (ALK1) mutation. American journal of respiratory and critical care medicine 2010 Jan . Girerd Barbara, Montani David, Coulet Florence, Sztrymf Benjamin, Yaici Azzeddine, Jaïs Xavier, Tregouet David, Reis Abilio, Drouin-Garraud Valérie, Fraisse Alain, Sitbon Olivier, O'Callaghan Dermot S, Simonneau Gérald, Soubrier Florent, Humbert Ma |
| 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 |
| Variation in telangiectasia predisposing genes is associated with overall radiation toxicity. International journal of radiation oncology, biology, physics 2012 Nov 84 (4): 1031-6. Tanteles George A, Murray Robert J S, Mills Jamie, Barwell Julian, Chakraborti Prabir, Chan Steve, Cheung Kwok-Leung, Ennis Dawn, Khurshid Nazish, Lambert Kelly, Machhar Rohan, Meisuria Mitul, Osman Ahmed, Peat Irene, Sahota Harjinder, Woodings Pamela, Talbot Christopher J, Symonds R Pa |
| 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 |
| Hemodynamic and genetic analysis in children with idiopathic, heritable, and congenital heart disease associated pulmonary arterial hypertension. Respiratory research 2013 14 (1): 3. Pfarr Nicole, Fischer Christine, Ehlken Nicola, Becker-Grünig Tabea, López-González Vanesa, Gorenflo Matthias, Hager Alfred, Hinderhofer Katrin, Miera Oliver, Nagel Christian, Schranz Dietmar, Grünig Ekkeha |
| Novel mutations in BMPR2, ACVRL1 and KCNA5 genes and hemodynamic parameters in patients with pulmonary arterial hypertension. PloS one 2014 9 (6): e100261. Pousada Guillermo, Baloira Adolfo, Vilariño Carlos, Cifrian Jose Manuel, Valverde Dia |
| Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects. Human mutation 2015 Sep . Machado Rajiv D, Southgate Laura, Eichstaedt Christina A, Aldred Micheala A, Austin Eric D, Best D Hunter, Chung Wendy K, Benjamin Nicola, Elliott C Gregory, Eyries Mélanie, Fischer Christine, Gräf Stefan, Hinderhofer Katrin, Humbert Marc, Keiles Steven B, Loyd James E, Morrell Nicholas W, Newman John H, Soubrier Florent, Trembath Richard C, Viales Rebecca Rodríguez, Grünig Ekkeha |
| 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, |
| Genetic analyses in a cohort of children with pulmonary hypertension. The European respiratory journal 2016 Sep . Levy Marilyne, Eyries Mélanie, Szezepanski Isabelle, Ladouceur Magalie, Nadaud Sophie, Bonnet Damien, Soubrier Flore |
| Complex inheritance in Pulmonary Arterial Hypertension patients with several mutations. Scientific reports 2016 6 33570. Pousada Guillermo, Baloira Adolfo, Valverde Dia |
| Mutational and clinical analysis of the ENG gene in patients with pulmonary arterial hypertension. BMC genetics 2016 17 (1): 72. Pousada Guillermo, Baloira Adolfo, Fontán Diego, Núñez Marta, Valverde Dia |
| Association of Transforming Growth Factor-ß Superfamily Genes with Non-Regression of Pulmonary Artery Hypertension Following Balloon Mitral Valvotomy: A Pilot Study. The Journal of heart valve disease 2016 Nov 25 (6): 708-715. Prabhu Mukund A, Ismael Saifudeen, Remani Konnottil, Nair Renuka, Koshy Linda, Pillai Harikrishn |
| Clinical and genetic findings in children with central nervous system arteriovenous fistulas. Annals of neurology 2017 11 82 (6): 972-980. Saliou Guillaume, Eyries Mélanie, Iacobucci Marta, Knebel Jean-François, Waill Marie-Christine, Coulet Florence, Ozanne Augustin, Soubrier Flore |
| 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 |
| Genetic analyses in a cohort of 191 pulmonary arterial hypertension patients. Respiratory research 2018 05 19 (1): 87. Yang Hang, Zeng Qixian, Ma Yanyun, Liu Bingyang, Chen Qianlong, Li Wenke, Xiong Changming, Zhou Zh |
| Pulmonary arterial hypertension associated to systemic erythematosus lupus: molecular characterization of 3 cases. Medicina clinica 2018 3 151 (3): 111-115. Pousada Guillermo, Lago-Docampo Mauro, Baloira Adolfo, Valverde Dia |
| 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 |
| 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 |
| Ocular lesions in hereditary hemorrhagic telangiectasia: genetics and clinical characteristics. Orphanet journal of rare diseases 2020 7 15 (1): 168. Gómez-Acebo Inés, Prado Sara Rodríguez, De La Mora Ángel, Puente Roberto Zarrabeitia, de la Roza Varela Beatriz, Dierssen-Sotos Trinidad, Llorca Javi |
| The Genetic Epidemiology of Pediatric Pulmonary Arterial Hypertension. The Journal of pediatrics 2020 Jun . Haarman Meindina G, Kerstjens-Frederikse Wilhelmina S, Vissia-Kazemier Theresia R, Breeman Karel T N, Timens Wim, Vos Yvonne J, Roofthooft Marc T R, Hillege Hans L, Berger Rolf M |
| Clinical characteristics and prognosis analysis of idiopathic and hereditary pulmonary hypertension patients with ACVRL1 gene mutations. Pulmonary circulation 2021 12 11 (4): 20458940211044577. Zhang Xinyu, Zhang Chen, Li Qiangqiang, Piao Chunmei, Zhang Hongsheng, Gu Ho |
| [Clinical genetic analysis and diagnosis of a family with hereditary hemorrhagic telangiectasia]. Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgery 2021 12 56 (12): 1307-1312. Song X Y, Yang Y J, Yao Y, Zhang Y, Song X |
| Associated genetic variants and potential pathogenic mechanisms of brain arteriovenous malformation. Journal of neurointerventional surgery 2022 4 . Liu Junyu, Li Yifeng, Zhang Hao, Luo Chun, Yuan Dun, Jiang Weixi, Yan Junx |
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