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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Sep 7, 2024. (Total: 231234Documents)
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Records 1 - 9 (of 9 Records)

Query Trace: Epistaxis and ACVRL1[original query]
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
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
[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
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
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
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
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