Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 34 Records) |
Query Trace: F9[original query] |
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Common variants in the haemostatic gene pathway contribute to risk of early-onset myocardial infarction in the Italian population. Thrombosis and haemostasis 2011 Oct 106 (4): 655-64. Guella Ilaria, Duga Stefano, Ardissino Diego, Merlini Pier Angelica, Peyvandi Flora, Mannucci Pier Mannuccio, Asselta Rosan |
Assessment of the F9 genotype-specific FIX inhibitor risks and characterisation of 10 novel severe F9 defects in the first molecular series of Argentinian patients with haemophilia B. Thrombosis and haemostasis 2013 Jan 109 (1): 24-33. Radic Claudia Pamela, Rossetti Liliana Carmen, Abelleyro Miguel Martín, Candela Miguel, Pérez Bianco Raúl, de Tezanos Pinto Miguel, Larripa Irene Beatriz, Goodeve Anne, De Brasi Carlos Dani |
Heterozygote frequencies of common polymorphic markers of factor VIII (f8) and factor IX (f9) genes in indigenous Nepali population. Haemophilia : the official journal of the World Federation of Hemophilia 2012 Mar 18 (2): e44-5. Kanani P, Poudyal B S, Shetty S, Kapali S M, Ghosh |
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 |
Risk factors associated with inhibitor development in Chinese patients with haemophilia B. Haemophilia : the official journal of the World Federation of Hemophilia 2015 Jul 21 (4): e286-93. Zhou J, Ding Q, Chen Z, Yang H, Lin L, Wang H, Wang X, Wu |
Genetic variation influences the risk of bleeding after cardiac surgery: novel associations and validation of previous findings. Acta anaesthesiologica Scandinavica 2015 Jul 59 (6): 796-806. Greiff G, Pleym H, Stenseth R, Wahba A, Videm |
Identification of mutations in the F8 and F9 gene in families with haemophilia using targeted high-throughput sequencing. Haemophilia : the official journal of the World Federation of Hemophilia 2016 Jun . Lyu C, Xue F, Liu X, Liu W, Fu R, Sun T, Wu R, Zhang L, Li H, Zhang D, Yang R, Zhang |
Study of six patients with complete F9 deletion characterized by cytogenetic microarray: role of the SOX3 gene in intellectual disability. Journal of thrombosis and haemostasis : JTH 2016 Oct 14 (10): 1988-1993. Jourdy Y, Chatron N, Carage M-L, Fretigny M, Meunier S, Zawadzki C, Gay V, Negrier C, Sanlaville D, Vinciguerra |
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 |
Diagnosis and phenotypic assessment of Pakistani Haemophilia B carriers. Pakistan journal of medical sciences 0 33 (3): 738-742. Khan Muhammad Tariq Masood, Naz Arshi, Ahmed Jawad, Shamsi Tahir Sultan, Taj Abid Soha |
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 |
Mutational Profiles of F8 and F9 in a Cohort of Haemophilia A and Haemophilia B Patients in the Multi-ethnic Malaysian Population. Mediterranean journal of hematology and infectious diseases 2018 9 10 (1): e2018056. Zahari Maimiza, Sulaiman Siti Aishah, Othman Zulhabri, Ayob Yasmin, Karim Faraizah Abd, Jamal Rahm |
Recurrent F8 and F9 gene variants result from a founder effect in two large French haemophilia cohorts. Haemophilia : the official journal of the World Federation of Hemophilia 2018 Apr . Lassalle F, Marmontel O, Zawadzki C, Fretigny M, Bouvagnet P, Vinciguerra |
High resolution melting for F9 gene mutation analysis in patients with haemophilia B. Blood transfusion = Trasfusione del sangue 2018 3 17 (1): 72-82. Salviato Roberta, Belvini Donata, Radossi Paolo, Tagariello Giusep |
Variants in FIX propeptide associated with vitamin K antagonist hypersensitivity: functional analysis and additional data confirming the common founder mutations. Annals of hematology 2018 Feb . Pezeshkpoor Behnaz, Czogalla Katrin J, Caspers Michael, Berkemeier Ann-Cristin, Liphardt Kerstin, Ghosh Suvoshree, Kellner Marco, Ulrich Silvia, Pavlova Anna, Oldenburg Johann |
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 |
Targeted next-generation sequencing reveals novel and known variants of thrombophilia associated genes in Saudi patients with venous thromboembolism. Clinica chimica acta; international journal of clinical chemistry 2021 5 519 247-254. Athar Mohammad, Ghita Ibrahim S, Albagenny Amani A, Abduljaleel Zainularifeen, Shadab Ghulam, Elsendiony Ahmed, Halawani Saeed H, Alkazmi Mohammad M, Alquthami Khalid, Alkhuzae Mohammad M, Althebyani Abdulaziz A, Bogari Neda M, Dannoun Anas, Al-Allaf Faisal |
Genetic analysis of carrier status in female members of Japanese hemophilia families. Journal of thrombosis and haemostasis : JTH 2021 3 19 (6): 1493-1505. Shinozawa Keiko, Amano Kagehiro, Hagiwara Takeshi, Bingo Masato, Chikasawa Yushi, Inaba Hiroshi, Kinai Ei, Fukutake Katsuyu |
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 |
F9 missense mutations impairing factor IX activation are associated with pleiotropic plasma phenotypes. Journal of thrombosis and haemostasis : JTH 2021 Oct . Branchini Alessio, Morfini Massimo, Lunghi Barbara, Belvini Donata, Radossi Paolo, Bury Loredana, Serino Maria Luisa, Giordano Paola, Cultrera Dorina, Molinari Angelo Claudio, Napolitano Mariasanta, Bigagli Elisabetta, Castaman Giancarlo, Pinotti Mirko, Bernardi Francesco, |
Genome-Wide Association Study and Gene-Based Analysis of Participants With Hemophilia A and Inhibitors in the My Life, Our Future Research Repository. Frontiers in medicine 2022 7 9 903838. Lessard Samuel, He Chunla, Rajpal Deepak K, Klinger Katherine, Loh Christine, Harris Tim, Dumont Jennif |
Results of genetic analysis of 11?341 participants enrolled in the My Life, Our Future hemophilia genotyping initiative in the United States. Journal of thrombosis and haemostasis : JTH 2022 6 20 (9): 2022-2034. Johnsen Jill M, Fletcher Shelley N, Dove Angela, McCracken Haley, Martin Beth K, Kircher Martin, Josephson Neil C, Shendure Jay, Ruuska Sarah E, Valentino Leonard A, Pierce Glenn F, Watson Crystal, Cheng Dunlei, Recht Michael, Konkle Barbara |
Clinical conditions and risk factors for inhibitor-development in patients with haemophilia: A decade-long prospective cohort study in Japan, J-HIS2 (Japan Hemophilia Inhibitor Study 2). Haemophilia : the official journal of the World Federation of Hemophilia 2022 6 28 (5): 745-759. Nogami Keiji, Taki Masashi, Matsushita Tadashi, Kojima Tetsuhito, Oka Toshiaki, Ohga Shouichi, Kawakami Kiyoshi, Sakai Michio, Suzuki Takashi, Higasa Satoshi, Horikoshi Yasuo, Shinozawa Keiko, Tamura Shogo, Yada Koji, Imaizumi Masue, Ohtsuka Yoshitoshi, Iwasaki Fuminori, Kobayashi Masao, Takamatsu Junki, Takedani Hideyuki, Nakadate Hisaya, Matsuo Yoko, Matsumoto Takeshi, Fujii Teruhisa, Fukutake Katsuyuki, Shirahata Akira, Yoshioka Akira, Shima Midori, |
Identification of an SRY-negative 46,XX infertility male with a heterozygous deletion downstream of SOX3 gene. Molecular cytogenetics 2022 2 15 (1): 2. Qin Shengfang, Wang Xueyan, Wang J |
Genotype Hemophilia Screening Program Identified 2 Novel Variants Including a Novel Variant (c.5816-2A?>?G) Causing a Pathogenic Variant of the Factor 8 Gene. Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis 2023 8 29 10760296231182410. Tarek Owaidah, Salwa Bakr, Nouf Al-Numair, Hala AbaAlkhail, Hazzaa Alzahrani, Mahasen Saleh, Haitham Khogeer, Ahmed Tarawah, Hadeel Akkad, Faisal Al-All |
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 |
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- Page last updated:Apr 22, 2024
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