Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 16 (of 16 Records) |
Query Trace: Factor Vii Deficiency[original query] |
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Molecular analysis of the genotype-phenotype relationship in factor VII deficiency. Human genetics 2000 12 107 (4): 327-42. Millar D S, Kemball-Cook G, McVey J H, Tuddenham E G, Mumford A D, Attock G B, Reverter J C, Lanir N, Parapia L A, Reynaud J, Meili E, von Felton A, Martinowitz U, Prangnell D R, Krawczak M, Cooper D |
Clinical phenotypes and factor VII genotype in congenital factor VII deficiency. Thrombosis and haemostasis 2005 Mar 93 (3): 481-7. Mariani Guglielmo, Herrmann Falko H, Dolce Alberto, Batorova Angelika, Etro Daniela, Peyvandi Flora, Wulff Karin, Schved Jean F, Auerswald Günter, Ingerslev Jorgen, Bernardi Francesco, |
Factor VII deficiency: clinical manifestation of 717 subjects from Europe and Latin America with mutations in the factor 7 gene. Haemophilia : the official journal of the World Federation of Hemophilia 2009 Jan 15 (1): 267-80. Herrmann F H, Wulff K, Auerswald G, Schulman S, Astermark J, Batorova A, Kreuz W, Pollmann H, Ruiz-Saez A, De Bosch N, Salazar-Sanchez L, |
Vena porta thrombosis in patient with inherited factor VII deficiency. Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis 2010 1 21 (3): 285-8. Klovaite Jolanta, Friis-Hansen Lennart, Larsen Fin S, Toffner-Clausen Nielsaage, Bjerrum Ole |
Recurrent mutations and genotype-phenotype correlations in hereditary factor VII deficiency in Korea. Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis 2011 1 22 (2): 102-5. Kwon Min-Jung, Yoo Ki-Young, Lee Ki-O, Kim Sun-Hee, Kim Hee-J |
Long-term prophylaxis in severe factor VII deficiency. Haemophilia : the official journal of the World Federation of Hemophilia 2015 May . Siboni S M, Biguzzi E, Mistretta C, Garagiola I, Peyvandi |
[Mutation analysis and prenatal diagnosis for a family affected with congenital factor VII deficiency]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2016 Jun 33 (3): 357-60. Peng Wei, Zhang Shuxin, Liu Xin, Gu Yanan, Wang Y |
Isotypic analysis of antibodies against activated Factor VII in patients with Factor VII deficiency using the x-MAP technology. Thrombosis research 2016 Feb 141 22-27. Pfeiffer Caroline, Mathieu-Dupas Eve, Logghe Pauline, Lissalde-Lavigne Géraldine, Balicchi Julien, Caliskan Umran, Valentin Thomas, Laune Daniel, Molina Franck, Schved Jean François, Giansily-Blaizot Muri |
F7 gene variants modulate protein levels in a large cohort of patients with factor VII deficiency. Results from a genotype-phenotype study. Thrombosis and haemostasis 2017 Apr . Quintavalle Gabriele, Riccardi Federica, Rivolta Gianna Franca, Martorana Davide, Di Perna Caterina, Percesepe Antonio, Tagliaferri Annarita, |
Factor VII deficiency: a novel missense variant and genotype-phenotype correlation in patients from Southern Italy. Human genome variation 2017 11 4 17048. Tiscia Giovanni, Favuzzi Giovanni, Chinni Elena, Colaizzo Donatella, Fischetti Lucia, Intrieri Mariano, Margaglione Maurizio, Grandone Elvi |
Homozygous congenital factor VII deficiency with a novel mutation, associated with severe spontaneous intracranial bleeding in a neonate. Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis 2018 6 29 (5): 476-480. Kader Sebnem, Mutlu Mehmet, Acar Filiz Akturk, Aslan Yakup, Bahadir Aysen |
[Analysis of Phenotype and L12R Mutation in Signal Peptide and 3' Non-translation Region c11814-insAA Mutation of F7 Gene in a Family with Hereditary Coagulation Factor VII Deficiency]. Zhongguo shi yan xue ye xue za zhi 2018 4 26 (2): 508-515. Liu Shan, Zhang Jing-Yu, Li Zheng-Rong, Wang Yan, Niu Zhi-Yun, Lin Feng- |
Next-generation sequencing and recombinant expression characterized aberrant splicing mechanisms and provided correction strategies in factor VII deficiency. Haematologica 2019 7 105 (3): 829-837. Ferraresi Paolo, Balestra Dario, Guittard Caroline, Buthiau Delphine, Pan-Petesh Brigitte, Maestri Iva, Farah Roula, Pinotti Mirko, Giansily-Blaizot Muri |
Clinical phenotype and F7 gene genotype in 40 Tunisian patients with congenital factor VII deficiency. Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis 2022 7 33 (5): 280-284. Ouardani Cherifa, Elmahmoudi Hejer, ELborgi Wejden, Gharbi Maroua, Meriem Achour, Gouider Em |
Interleukin 10, but not tumor necrosis factor-alpha, gene variations are associated with factor VII inhibitor development. Laboratory medicine 2023 4 . Nahid Ramezanpour, Korosh Khanaki, Akbar Dorgalaleh, Mahmood Shams, Ali Elmi, Farhad Zak |
Genotype-Phenotype Relationship among 785 Unrelated White Women with Inherited Congenital Factor VII Deficiency: A Three-Center Database Study. Journal of clinical medicine 2024 1 13 (1): . Susan Halimeh, Lydia Koch, Gili Kenet, Piotr Kuta, Tess Rahmfeld, Monika Stoll, Ulrike Nowak-Göt |
- Page last reviewed:Feb 1, 2024
- Page last updated:May 13, 2024
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