Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 30 (of 42 Records) |
Query Trace: Hereditary Hemorrhagic Telangiectasia[original query] |
---|
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 |
Hereditary hemorrhagic telangiectasia: how accurate are the clinical criteria? American journal of medical genetics. Part A 2013 Mar 161A (3): 461-6. van Gent Marco W F, Velthuis Sebastiaan, Post Martijn C, Snijder Repke J, Westermann Cornelis J J, Letteboer Tom G W, Mager Johannes |
A genome-wide investigation of copy number variation in patients with sporadic brain arteriovenous malformation. PloS one 2013 8 (10): e71434. Bendjilali Nasrine, Kim Helen, Weinsheimer Shantel, Guo Diana E, Kwok Pui-Yan, Zaroff Jonathan G, Sidney Stephen, Lawton Michael T, McCulloch Charles E, Koeleman Bobby P C, Klijn Catharina J M, Young William L, Pawlikowska Ludmi |
Functional and splicing defect analysis of 23 ACVRL1 mutations in a cohort of patients affected by Hereditary Hemorrhagic Telangiectasia. PloS one 2015 10 (7): e0132111. Alaa El Din Ferdos, Patri Sylvie, Thoreau Vincent, Rodriguez-Ballesteros Montserrat, Hamade Eva, Bailly Sabine, Gilbert-Dussardier Brigitte, Abou Merhi Raghida, Kitzis Ala |
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, |
Mutations in RASA1 and GDF2 identified in patients with clinical features of hereditary hemorrhagic telangiectasia. Human genome variation 2016 4 2 15040. Hernandez Felicia, Huether Robert, Carter Lester, Johnston Tami, Thompson Jennifer, Gossage James R, Chao Elizabeth, Elliott Aaron |
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 |
[Gene Analysis of A Chinese Family with Hereditary Hemorrhagic Telangiectasia and its Curative Effect of Thalidomide]. Zhongguo shi yan xue ye xue za zhi 2017 8 25 (4): 1136-1141. Yu Qian, Cheng Zhao, Yi Yi-Fang, Peng Hong-Li |
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 |
[Clinical and genetic diagnosis in a hereditary hemorrhagic telangiectasia family]. Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences 2017 10 42 (9): 1017-1022. Yi Yan, Liu Xiaofeng, Wu Boda, Liu Jun, Ge Shenglei, Shi Xiaol |
[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 |
Association of common candidate variants with vascular malformations and intracranial hemorrhage in hereditary hemorrhagic telangiectasia. Molecular genetics & genomic medicine 2018 May 6 (3): 350-356. Pawlikowska Ludmila, Nelson Jeffrey, Guo Diana E, McCulloch Charles E, Lawton Michael T, Kim Helen, Faughnan Marie E, |
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 |
Genetic Mutation Analysis Can Supplement Clinically Confirmed Hereditary Hemorrhagic Telangiectasia Populations. Clinical and experimental otorhinolaryngology 2019 10 12 (4): 333-334. Kim Seon T |
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 |
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 |
Subaortic Membranes in Patients With Hereditary Hemorrhagic Telangiectasia and Liver Vascular Malformations. Journal of the American Heart Association 2020 10 9 (20): e016197. Kim Agnes S, Henderson Katharine J, Pawar Sumeet, Kim Min Jung, Punjani Shahnaz, Pollak Jeffrey S, Fahey John T, Garcia-Tsao Guadalupe, Sugeng Lissa, Young Lawrence |
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 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 |
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 |
Whole genome sequences discriminate hereditary hemorrhagic telangiectasia phenotypes by non-HHT deleterious DNA variation. Blood advances 2022 3 6 (13): 3956-3969. Joyce Katie E, Onabanjo Ebun, Brownlow Sheila, Nur Fadumo, Olupona Kike, Fakayode Kehinde, Sroya Manveer, Thomas Geraldine A, Ferguson Teena, Redhead Julian, Millar Carolyn M, Cooper Nichola, Layton D Mark, Boardman-Pretty Freya, Caulfield Mark J, , Shovlin Claire |
Mutational spectrum of syndromic genes in sporadic brain arteriovenous malformation. Chinese neurosurgical journal 2022 2 8 (1): 4. Wang Kun, Zhang Mingqi, Zhao Sen, Xie Zhixin, Zhang Yisen, Liu Jian, Zhang Ying, Yang Xinjian, Wu N |
An Unexpected Anemia Hiding a Rare Syndrome With Overlapping Phenotypes. ACG case reports journal 2022 11 9 (11): e00926. Dal Buono Arianna, Poliani Laura, Repici Alessandro, Hassan Cesare, Bianchi Pao |
Exploring effects of atmospheric conditions in hereditary hemorrhagic telangiectasia. International forum of allergy & rhinology 2023 5 . Hamzah M Yusuf, Amna Rasheed, Steven Hetts, Kim Helen, Patricia Loftus, Miles Conr |
- Page last reviewed:Feb 1, 2024
- Page last updated:May 13, 2024
- Content source: