Human Genome Epidemiology Literature Finder
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Records 1 - 16 (of 16 Records) |
| Query Trace: Hemophilia B and F9[original query] |
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| 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 |
| 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 |
| 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 |
| 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, |
| 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, |
| 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 |
| The genetic analysis of eight families with hemophilia B in Mongolia: Identification of two novel mutation. Molecular genetics & genomic medicine 2024 9 12 (9): e2495. Purevdorj Munkhuu, Munkhtsetseg Bazarragchaa, Purevdorj Ichinkhorloo, Ki-Young Yoo, Enkh-Amar Ayush, Ochbadrakh Batjargal, Erdenebayar Namjil, Sarantuya Jav, Erkhembulgan Purevdorj, Sodnomtsogt Lkhagvasur |
| Genotype-phenotype analyses of Iranian patients with hemophilia B (Leyden -) and hemophilia B (Leyden +): A single-center study. Transfusion and apheresis science : official journal of the World Apheresis Association : official journal of the European Society for Haemapheresis 2024 7 63 (4): 103962. Arash Ahmadfard Moghadam, Amir Reza Manafzadeh, Khadijeh Dajliry, Farahnaz Ramezan, Mohammad Reza Nikoonia, Babak Abdolkarimi, Mohsen Hamidpour, Shadi Tabibi |
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