Human Genome Epidemiology Literature Finder
|
Records 1 - 12 (of 12 Records) |
| Query Trace: Disease and F9[original query] |
|---|
| Allelic heterogeneity of molecular events in human coagulation factor IX in Asian Indians. Mutation in brief #965. Online. Human mutation 2007 May 28 (5): 526. Mahajan Anubha, Chavali Sreenivas, Ghosh Saurabh, Kabra Madhulika, Chowdhury Madhumita Roy, , Bharadwaj Dwaipay |
| Polymorphism in factor VII gene modifies phenotype of severe haemophilia. Haemophilia : the official journal of the World Federation of Hemophilia 2009 Nov 15 (6): 1228-36. Jayandharan G R, Nair S C, Poonnoose P M, Thomas R, John J, Keshav S K, Cherian R S, Devadarishini M, Lakshmi K M, Shaji R V, Viswabandya A, George B, Mathews V, Chandy M, Srivastava |
| Screening for GFAP rearrangements in a cohort of Alexander disease and undetermined leukoencephalopathy patients. European journal of medical genetics 2015 Sep 58 (9): 466-70. Ferreira Marie-Céleste, Dorboz Imen, Rodriguez Diana, Boespflug Tanguy Odi |
| Application of a molecular diagnostic algorithm for haemophilia A and B using next-generation sequencing of entire F8, F9 and VWF genes. Thrombosis and haemostasis 2016 Oct 117 (1): . Bastida Bermeja Jose Maria, González-Porras Jose Ramon, Jiménez Cristina, Benito Rocio, Ordoñez Gonzalo R, Álvarez-Román Maria Teresa, Fontecha M Elena, Janusz Kamila, Castillo David, Fisac Rosa María, García-Frade Luis Javier, Aguilar Carlos, Martínez María Paz, Bermejo Nuria, Herrero Sonia, Balanzategui Ana, Martin-Antorán Jose Manuel, Ramos Rafael, Cebeiro Maria Jose, Pardal Emilia, Aguilera Carmen, Pérez-Gutierrez Belen, Prieto Manuel, Riesco Susana, Mendoza Maria Carmen, Benito Ana, Hortal Benito-Sendin Ana, Jiménez-Yuste Víctor, Hernández-Rivas Jesus Maria, García-Sanz Ramon, González-Díaz Marcos, Sarasquete Maria Eugen |
| Mutation Spectrum and Genotype-Phenotype Analyses in a Pakistani Cohort With Hemophilia B. Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis 2018 Jul 24 (5): 741-748. Khan Muhammad Tariq Masood, Naz Arshi, Ahmed Jawad, Shamsi Tahir, Ahmed Shariq, Ahmed Nisar, Imran Ayisha, Farooq Nazish, Khan Muhammad Tariq Hamayun, Taj Abid Soha |
| Genetic profiling revealed an increased risk of venous thrombosis in the Hungarian Roma population. Thrombosis research 2019 5 179 37-44. Fiatal Szilvia, Pikó Péter, Kósa Zsigmond, Sándor János, Ádány Ró |
| Novel F8 and F9 gene variants from the PedNet hemophilia registry classified according to ACMG/AMP guidelines. Human mutation 2020 9 41 (12): 2058-2072. Andersson Nadine G, Labarque Veerle, Letelier Anna, Mancuso Maria Elisa, Bührlen Martina, Fischer Kathelijn, Kartal-Kaess Mutlu, Koskenvuo Minna, Mikkelsen Torben, Ljung Rolf, |
| Molecular genetic diagnosis by next-generation sequencing in a cohort of Mexican patients with haemophilia and report of novel variants. Blood cells, molecules & diseases 2020 Mar 83 102423. Villarreal-Martínez Laura, Ibarra-Ramirez Marisol, Calvo-Anguiano Geovana, Lugo-Trampe José de Jesús, Luna-Záizar Hilda, Martínez-de-Villarreal Laura Elia, Meléndez-Aranda Lennon, Jaloma-Cruz Ana-Rebe |
| Mutation analysis and characterisation of F9 gene in haemophilia- B population of India. Blood research 2021 12 56 (4): 252-258. Kulkarni Sujayendra, Hegde Rajat, Hegde Smita, Kulkarni Suyamindra S, Hanagvadi Suresh, Das Kusal K, Kolagi Sanjeev, Gai Pramod B, Bulagouda Rudragou |
| Genetic and Bioinformatic Strategies to Improve Diagnosis in Three Inherited Bleeding Disorders in Bogotá, Colombia. Genes 2021 11 12 (11): . Lago Juliana, Groot Helena, Navas Diego, Lago Paula, Gamboa María, Calderón Dayana, Polanía-Villanueva Diana |
| F8/F9 variants in the population-based PedNet Registry cohort compared with locus-specific genetic databases of the European Association for Haemophilia and Allied Disorders and the Centers for Disease Control and Prevention Hemophilia A or Hemophilia B Mutation Project. Research and practice in thrombosis and haemostasis 2023 2 7 (1): 100036. Labarque Veerle, Mancuso Maria Elisa, Kartal-Kaess Mutlu, Ljung Rolf, Mikkelsen Torben S, Andersson Nadine |
| Whole F9 gene sequencing identified deep intronic variations in genetically unresolved hemophilia B patients. Journal of thrombosis and haemostasis : JTH 2023 1 . Dericquebourg Amy, Fretigny Mathilde, Chatron Nicolas, Tardy Brigitte, Zawadzki Christophe, Chambost Hervé, Vinciguerra Christine, Jourdy Yoha |
- Page last reviewed:Feb 1, 2024
- Content source: