Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 64 Records) |
Query Trace: ACVRL1[original query] |
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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 |
[Gene identification in a family of hereditary hemorrhagic telangiectasia]. Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi 2018 7 39 (6): 476-479. Wang L L, Zhang Z H, Gu C H, Lin L, Wang T R, Hao C |
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 |
Pulmonary Hypertension and Hereditary Hemorrhagic Telangiectasia Related to an ACVRL1 Mutation. Internal medicine (Tokyo, Japan) 2019 9 59 (2): 221-227. Yokokawa Tetsuro, Sugimoto Koichi, Kimishima Yusuke, Misaka Tomofumi, Yoshihisa Akiomi, Morisaki Hiroko, Yamada Osamu, Nakazato Kazuhiko, Ishida Takafumi, Takeishi Yasuchi |
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 |
Genotypes and Phenotypes of Chinese Pediatric Patients With Idiopathic and Heritable Pulmonary Arterial Hypertension-A Single-Center Study. The Canadian journal of cardiology 2019 12 35 (12): 1851-1856. Zhang Hong-Sheng, Liu Qian, Piao Chun-Mei, Zhu Yan, Li Qiang-Qiang, Du Jie, Gu Ho |
Association of the gene polymorphisms of BMPR2, ACVRL1, SMAD9 and their interactions with the risk of essential hypertension in the Chinese Han population. Bioscience reports 2019 1 39 (1): . Chen Yunpeng, Ye Chenxi, Chen Jingwen, Lin Dongming, Wang Hao, Wang Sh |
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 |
Recurrent germline mutations as genetic markers for aortic root dilatation in bicuspid aortic valve patients. Heart and vessels 2020 Oct . Wu Boting, Li Jun, Wang Yongshi, Cheng Yunfeng, Wang Chunsheng, Shu Xianho |
Differential expression of BMP/SMAD signaling and ovarian-associated genes in the granulosa cells of FecB introgressed GMM sheep. Systems biology in reproductive medicine 2020 1 66 (3): 185-201. Kumar Satish, Rajput Pradeep Kumar, Bahire Sangharatna V, Jyotsana Basanti, Kumar Vijay, Kumar Davend |
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 |
A Novel Variant in the ACVRL1 Gene in a Patient with Cirrhosis and Hereditary Hemorrhagic Telangiectasia. Turkish journal of haematology : official journal of Turkish Society of Haematology 2021 3 38 (3): 241-243. Baysal Mehmet, Alk?? Nihan, Gürkan Hakan, Demir Ahmet Muzaff |
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 |
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 |
Possible association between a polymorphism of EPAS1 gene and persistent pulmonary hypertension of the newborn: a case-control study. Jornal de pediatria 2021 Oct . Nakwan Narongsak, Mahasirimongkol Surakameth, Satproedprai Nusara, Chaiyasung Tassamonwan, Kunhapan Punna, Charoenlap Cheep, Singkhamanan Kamonnut, Charalsawadi Chariyaw |
Whole Exome Sequencing of Patients With Heritable and Idiopathic Pulmonary Arterial Hypertension in Central Taiwan. Frontiers in cardiovascular medicine 2022 9 911649. Liang Kae-Woei, Chang Sheng-Kai, Chen Yu-Wei, Lin Wei-Wen, Tsai Wan-Jane, Wang Kuo-Ya |
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 |
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 |
Prevalence of Mutations in Mendelian Stroke Genes in Early Onset Stroke Patients. Annals of neurology 2022 12 . Park Hong-Kyun, Lee Keon-Joo, Park Jong-Moo, Kang Kyusik, Lee Soo Joo, Kim Jae Guk, Cha Jae-Kwan, Kim Dae-Hyun, Han Moon-Ku, Kang Jihoon, Kim Beom Joon, Park Tai Hwan, Park Moo-Seok, Lee Kyung Bok, Lee Jun, Hong Keun-Sik, Cho Yong-Jin, Lee Byung-Chul, Yu Kyung-Ho, Oh Mi Sun, Kim Joon-Tae, Choi Kang-Ho, Kim Dong-Eog, Ryu Wi-Sun, Choi Jay Chol, Kwon Jee-Hyun, Kim Wook-Joo, Shin Dong-Ick, Sohn Sung Il, Hong Jeong-Ho, Lee Juneyoung, Lee Kyunghoon, Song Junghan, Bae Joon Seol, Cheong Hyun Sub, Debette Stéphanie, Bae Hee-Jo |
Associations of Reported Genetic Risk Loci with Sporadic Brain Arteriovenous Malformations: Meta-analysis. Journal of molecular neuroscience : MN 2022 10 72 (11): 2207-2217. Mukhtarova Kymbat, Zholdybayeva Elena, Utupov Talgat, Ramankulov Yerl |
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 |
Treprostinil effectiveness in higher-risk pediatric patients with Idiopathic and Heritable Pulmonary Arterial Hypertension. The Canadian journal of cardiology 2023 11 . Yuan He, Qiangqiang Li, Chen Zhang, Bradley B Keller, Hong |
Computed tomography-detected extramural venous invasion-related gene signature: a potential negative biomarker of immune checkpoint inhibitor treatment in patients with gastric cancer. Journal of translational medicine 2023 1 21 (1): 4. Yang Hao, Gou Xinyi, Feng Caizhen, Zhang Yinli, Chai Fan, Hong Nan, Ye Yingjiang, Wang Yi, Gao Bo, Cheng J |
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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