HuGE Literature Finder
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Records 1-95
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Inflammatory and immune response genes: A genetic analysis of inhibitor development in Iranian hemophilia A patients.
Pediatric hematology and oncology 2019 Mar 1-12. Naderi Niloofar, Yousefi Hossein, Mollazadeh Sahar, Seyed Mikaeili Afsaneh, Keshavarz Norouzpour Masoumeh, Jazebi Mohammad, Moazezi Nekooi Asl Seyedeh Somayeh, Namvar Ali, Azizi Saraji Alireza, Agi Elnaz, Bolhassani Az |
Genome-Wide Association Transethnic Meta-Analyses Identifies Novel Associations Regulating Coagulation Factor VIII and von Willebrand Factor Plasma Levels.
Circulation 2019 Jan 139 (5): 620-635. Sabater-Lleal Maria, Huffman Jennifer E, de Vries Paul S, Marten Jonathan, Mastrangelo Michael A, Song Ci, Pankratz Nathan, Ward-Caviness Cavin K, Yanek Lisa R, Trompet Stella, Delgado Graciela E, Guo Xiuqing, Bartz Traci M, Martinez-Perez Angel, Germain Marine, de Haan Hugoline G, Ozel Ayse B, Polasek Ozren, Smith Albert V, Eicher John D, Reiner Alex P, Tang Weihong, Davies Neil M, Stott David J, Rotter Jerome I, Tofler Geoffrey H, Boerwinkle Eric, de Maat Moniek P M, Kleber Marcus E, Welsh Paul, Brody Jennifer A, Chen Ming-Huei, Vaidya Dhananjay, Soria José Manuel, Suchon Pierre, van Hylckama Vlieg Astrid, Desch Karl C, Kolcic Ivana, Joshi Peter K, Launer Lenore J, Harris Tamara B, Campbell Harry, Rudan Igor, Becker Diane M, Li Jun Z, Rivadeneira Fernando, Uitterlinden André G, Hofman Albert, Franco Oscar H, Cushman Mary, Psaty Bruce M, Morange Pierre-Emmanuel, McKnight Barbara, Chong Michael R, Fernandez-Cadenas Israel, Rosand Jonathan, Lindgren Arne, , Gudnason Vilmundur, Wilson James F, Hayward Caroline, Ginsburg David, Fornage Myriam, Rosendaal Frits R, Souto Juan Carlos, Becker Lewis C, Jenny Nancy S, März Winfried, Jukema J Wouter, Dehghan Abbas, Trégouët David-Alexandre, Morrison Alanna C, Johnson Andrew D, O'Donnell Christopher J, Strachan David P, Lowenstein Charles J, Smith Nicholas |
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Prediction of factor VIII inhibitor development in the SIPPET cohort by mutational analysis and factor VIII antigen measurement.
Journal of thrombosis and haemostasis : JTH 2018 Apr 16 (4): 778-790. Spena S, Garagiola I, Cannavò A, Mortarino M, Mannucci P M, Rosendaal F R, Peyvandi F, |
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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 |
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The Development of FVIII Inhibitors in Relation to IL10 Gene Polymorphism in Hemophilia A Egyptian Pediatric Patients.
Fetal and pediatric pathology 2017 Jun 36 (3): 184-189. Sadek Hoda, Youssry Ilham, Ibrahim Nihal Salah Eldeen, Abou-Elalla Amany Ahmed, Atef Gehad, Mousa Somaia Mohamm |
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Factor VIII mutation spectrum in haemophilia A patients in the population of Henan, China.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis 2017 Mar . Bai Nan, Zhu Xiaofan, Zhao Zhenhua, Bai Ying, Wu Qinghua, Liu Ning, Chen Duo, Kong Xiangdo |
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Variation in baseline factor VIII concentration in a retrospective cohort of mild/moderate hemophilia A patients carrying identical F8 mutations.
Journal of thrombosis and haemostasis : JTH 2016 Dec . Loomans J I, van Velzen A S, Eckhardt C L, Peters M, Mäkipernaa A, Holmstrom M, Brons P P, Dors N, Haya S, Voorberg J, van der Bom J G, Fijnvandraat |
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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 |
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The higher prevalence of missense mutations in hemophilia B compared to hemophilia A could be important in determining a milder clinical phenotype in patients with severe hemophilia B.
Haematologica 2016 Oct 101 (10): e429. Melchiorre Daniela, Linari Silvia, Castaman Giancar |
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Venous Thromboembolism After Knee Arthroscopy in Undiagnosed Familial Thrombophilia.
Orthopedics 2016 Jul 1-6. Jetty Vybhav, Glueck Charles J, Freiberg Richard A, Wang Pi |
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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 |
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Factors contributing to APC-resistance in women with recurrent spontaneous miscarriages: Indian perspective.
Blood cells, molecules & diseases 2015 Oct 55 (3): 213-5. Sharma Amit, Singh Neha, Mahapatra Manoranjan, Ranjan Ravi, Kishor Kamal, Saxena Re |
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[Relationship between genotypes and clinical phenotypes in patients from 7 hemophilia A families].
Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics 2015 Sep 17 (9): 903-7. Liang Wei-Ling, Wei Hong-Ying, Liao Ning, Zhou Jun- |
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Complexity and Diversity of F8 Genetic Variations in the 1000 Genomes.
Journal of thrombosis and haemostasis : JTH 2015 Sep . Li Jiani, Carrero Ivenise G, Dong Jing-Fei, Yu Fu |
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Factor VIII gene variants and inhibitor risk in African American hemophilia A patients.
Blood 2015 Aug 126 (7): 895-904. Gunasekera Devi, Ettinger Ruth A, Nakaya Fletcher Shelley, James Eddie A, Liu Maochang, Barrett John C, Withycombe Janice, Matthews Dana C, Epstein Melinda S, Hughes Richard J, Pratt Kathleen P, |
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Overrepresentation of missense mutations in mild hemophilia A patients from Belgium: founder effect or independent occurrence?
Thrombosis research 2015 Jun 135 (6): 1057-63. Lannoy N, Lambert C, Vikkula M, Hermans |
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Identification of ten novel mutations in factor VIII gene: A study of a cohort of 52 haemophilia A patients.
Thrombosis research 2015 May 135 (5): 1031-4. Santacroce Rosa, Leccese Angelica, Trunzo Roberta, Lassandro Giuseppe, Giordano Paola, Ettorre Cosimo, Antoncecchi Stefano, Cantori Isabella, Dragani Alfredo, Belvini Donata, Salviato Roberta, Margaglione Mauriz |
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Parameters influencing FVIII pharmacokinetics in patients with severe and moderate haemophilia A.
Haemophilia : the official journal of the World Federation of Hemophilia 2015 May 21 (3): 343-50. Kepa S, Horvath B, Reitter-Pfoertner S, Schemper M, Quehenberger P, Grundbichler M, Heistinger M, Neumeister P, Mannhalter C, Pabinger |
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von Willebrand factor propeptide and the phenotypic classification of von Willebrand disease.
Blood 2015 May 125 (19): 3006-13. Sanders Yvonne V, Groeneveld Dafna, Meijer Karina, Fijnvandraat Karin, Cnossen Marjon H, van der Bom Johanna G, Coppens M, de Meris Joke, Laros-van Gorkom Britta A P, Mauser-Bunschoten Eveline P, Leebeek Frank W G, Eikenboom Jeroen, |
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Application of indirect linkage analysis and direct genotyping to hemophilia A carrier detection in Sichuan, China.
Genetics and molecular research : GMR 2015 14 (3): 8229-35. Sun P, Ma L, Diao G, Li C Q, Lin F |
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Genotyping of intron 22 inversion of factor VIII gene for diagnosis of hemophilia A by inverse-shifting polymerase chain reaction and capillary electrophoresis.
Analytical and bioanalytical chemistry 2014 Sep 406 (22): 5447-54. Pan Tzu-Yu, Wang Chun-Chi, Shih Chi-Jen, Wu Hui-Fen, Chiou Shyh-Shin, Wu Shou-M |
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The Fc gamma receptor IIa R131H polymorphism is associated with inhibitor development in severe hemophilia A.
Journal of thrombosis and haemostasis : JTH 2014 Aug 12 (8): 1294-301. Eckhardt C L, Astermark J, Nagelkerke S Q, Geissler J, Tanck M W T, Peters M, Fijnvandraat K, Kuijpers T |
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Influence of factor 5 rs6025 and factor 2 rs1799963 mutation on inhibitor development in patients with hemophilia A--an Israeli-German multicenter database study.
Thrombosis research 2014 Apr 133 (4): 544-9. Kenet Gili, Bidlingmaier Christoph, Bogdanova Nadja, Ettingshausen Carmen Escuriola, Goldenberg Neil, Gutsche Sven, Halimeh Susan, Holzhauer Susanne, Kurnik Karin, Limperger Verena, Junker Ralf, Nowak-Göttl Ulri |
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Characterization of F8 defects in haemophilia A in Pakistan: investigation of correlation between mutation type and the in vitro thrombin generation assay.
Haemophilia : the official journal of the World Federation of Hemophilia 2014 Mar 20 (2): 287-93. Khanum F, Collins P W, Harris R L, Bowen D |
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Development of inhibitory antibodies to therapeutic factor VIII in severe hemophilia A is associated with microsatellite polymorphisms in the HMOX1 promoter.
Haematologica 2013 Oct 98 (10): 1650-5. Repessé Yohann, Peyron Ivan, Dimitrov Jordan D, Dasgupta Suryasarathi, Moshai Elika Farrokhi, Costa Catherine, Borel-Derlon Annie, Guillet Benoit, D'Oiron Roseline, Aouba Achille, Rothschild Chantal, Oldenburg Johannes, Pavlova Anna, Kaveri Srinivas V, Lacroix-Desmazes Sébastien, |
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Factor VIII gene (F8) mutation and risk of inhibitor development in nonsevere hemophilia A.
Blood 2013 Sep 122 (11): 1954-62. Eckhardt Corien L, van Velzen Alice S, Peters Marjolein, Astermark Jan, Brons Paul P, Castaman Giancarlo, Cnossen Marjon H, Dors Natasja, Escuriola-Ettingshausen Carmen, Hamulyak Karly, Hart Daniel P, Hay Charles R M, Haya Saturnino, van Heerde Waander L, Hermans Cedric, Holmström Margareta, Jimenez-Yuste Victor, Keenan Russell D, Klamroth Robert, Laros-van Gorkom Britta A P, Leebeek Frank W G, Liesner Ri, Mäkipernaa Anne, Male Christoph, Mauser-Bunschoten Evelien, Mazzucconi Maria G, McRae Simon, Meijer Karina, Mitchell Michael, Morfini Massimo, Nijziel Marten, Oldenburg Johannes, Peerlinck Kathelijne, Petrini Pia, Platokouki Helena, Reitter-Pfoertner Sylvia E, Santagostino Elena, Schinco Piercarla, Smiers Frans J, Siegmund Berthold, Tagliaferri Annarita, Yee Thynn T, Kamphuisen Pieter Willem, van der Bom Johanna G, Fijnvandraat Karin, |
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Factor VIII mutation and desmopressin-responsiveness in 62 patients with mild haemophilia A.
Haemophilia : the official journal of the World Federation of Hemophilia 2013 Sep 19 (5): 720-6. Nance D, Fletcher S N, Bolgiano D C, Thompson A R, Josephson N C, Konkle B |
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Impact of HLA alleles and cytokine polymorphisms on inhibitors development in children with severe haemophilia A.
Haemophilia : the official journal of the World Federation of Hemophilia 2013 Sep 19 (5): 706-10. Pergantou H, Varela I, Moraloglou O, Economou M, Spanou K, Kapsimali Z, Constantinidou N, Platokouki |
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Factor VIII genotype characterization of haemophilia A affected patients with transient and permanent inhibitors: a comprehensive Argentine study of inhibitor risks.
Haemophilia : the official journal of the World Federation of Hemophilia 2013 Jul 19 (4): 511-8. Rossetti L C, Szurkalo I, Radic C P, Abelleyro M M, Primiani L, Neme D, Candela M, Bianco R P, de Tezanos Pinto M, Larripa I B, De Brasi C |
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Correlation between phenotype and genotype in a large unselected cohort of children with severe hemophilia A.
Blood 2013 Mar . Carcao MD, van den Berg HM, Ljung R, Mancuso ME |
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A genome-wide association study of resistance to HIV infection in highly exposed uninfected individuals with hemophilia A.
Human molecular genetics 2013 Feb . Lane J, McLaren PJ, Dorrell L, Shianna KV, Stemke A, Pelak K, Moore S, Oldenburg J, Alvarez-Roman MT, Angelillo-Scherrer A, Boehlen F, Bolton-Maggs PH, Brand B, Brown D, Chiang E, Cid-Haro AR, Clotet B, Collins P, Colombo S, Dalmau J, Fogarty P, Giangrande P, Gringeri A, Iyer R, Katsarou O, Kempton C, Kuriakose P, Lin J, Makris M, Manco-Johnson M, Tsakiris DA, Martinez-Picado J, Mauser-Bunschoten E, Neff A, Oka S, Oyesiku L, Parra R, Peter-Salonen K, Powell J, Recht M, Shapiro A, Stine K, Talks K, Telenti A, Wilde J, Yee TT, Wolinsky SM, Martinson J, Hussain SK, Bream JH, Jacobson LP, Carrington M, Goedert JJ, Haynes BF, McMichael AJ, Goldstein DB, Fellay J |
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F8 haplotype and inhibitor risk: results from the Hemophilia Inhibitor Genetics Study (HIGS) Combined Cohort.
Haemophilia : the official journal of the World Federation of Hemophilia 2013 Jan 19 (1): 113-8. Schwarz J, Astermark J, Menius E D, Carrington M, Donfield S M, Gomperts E D, Nelson G W, Oldenburg J, Pavlova A, Shapiro A D, Winkler C A, Berntorp E, |
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Response to desmopressin is strongly dependent on F8 gene mutation type in mild and moderate haemophilia A.
Thrombosis and haemostasis 2013 Jan 109 (3): 3. Stoof SC, Sanders YV, Petrij F, Cnossen MH, de Maat MP, Leebeek FW, Kruip MJ |
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Immune regulatory gene polymorphisms as predisposing risk factors for the development of factor VIII inhibitors in Indian severe haemophilia A patients.
Haemophilia : the official journal of the World Federation of Hemophilia 2012 Sep 18 (5): 794-7. Pinto P, Ghosh K, Shetty |
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Coagulation and fibrinolytic disturbances are related to carotid intima thickness and arterial blood pressure in Turner syndrome.
Clinical endocrinology 2012 May 76 (5): 649-56. Gravholt Claus H, Mortensen Kristian H, Andersen Niels H, Ibsen Liselotte, Ingerslev Jørgen, Hjerrild Britta |
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Influence of class I and II HLA alleles on inhibitor development in severe haemophilia A patients from the south of Brazil.
Haemophilia : the official journal of the World Federation of Hemophilia 2012 May 18 (3): e236-40. De Barros M F, Herrero J C M, Sell A M, De Melo F C, Braga M A, Pelissari C B, Machado J, De Souza Schiller S, De Souza Hirle L, Visentainer J E |
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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 |
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Screening of intron 1 inversion and three intragenic factor VIII gene polymorphisms in Pakistani hemophilia A families.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis 2012 Mar 23 (2): 132-7. Bugvi Saima M, Imran Muhammad, Mahmood Saqib, Hafeez Rubina, Fatima Warda, Sohail Shah |
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The thrombophilic pattern of different clinical manifestations of venous thromboembolism: a survey of 443 cases of venous thromboembolism.
Seminars in thrombosis and hemostasis 2012 Mar 38 (2): 230-4. Grifoni Elisa, Marcucci Rossella, Ciuti Gabriele, Cenci Caterina, Poli Daniela, Mannini Lucia, Liotta Agatina Alessandrello, Miniati Massimo, Abbate Rosanna, Prisco Domeni |
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Combined analysis of the MspI and XbaI polymorphisms in intron 22 of the factor VIII gene for detection of hemophilia A in a Korean population.
Genetics and molecular research : GMR 2012 11 (1): 1. Park SH, Chung N, Lee MR, Yoo SK, Choi YM |
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A case-control study reveals immunoregulatory gene haplotypes that influence inhibitor risk in severe haemophilia A.
Haemophilia : the official journal of the World Federation of Hemophilia 2011 Jul 17 (4): 641-9. Lozier J N, Rosenberg P S, Goedert J J, Menashe |
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THROMBOPHILIC SCREENING IN TURNER SYNDROME.
Journal of endocrinological investigation 2011 May . Calcaterra V, Gamba G, Montani N, de Silvestri A, Terulla V, Lanati G, Larizza D |
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Association between phenotype and genotype in carriers of haemophilia A.
Haemophilia : the official journal of the World Federation of Hemophilia 2011 Mar 17 (2): 246-51. Miesbach W, Alesci S, Geisen C, Oldenburg |
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Influence of the type of F8 gene mutation on inhibitor development in a single centre cohort of severe haemophilia A patients.
Haemophilia : the official journal of the World Federation of Hemophilia 2011 Mar 17 (2): 275-81. Gouw S C, Van Der Bom J G, Van Den Berg H M, Zewald R A, Ploos Van Amstel J K, Mauser-Bunschoten E |
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Acquired activated protein C resistance, thrombophilia and adverse pregnancy outcomes: a study performed in an Irish cohort of pregnant women.
Journal of pregnancy 2011 2011 232840. Sedano-Balbás Sara, Lyons Mark, Cleary Brendan, Murray Margaret, Gaffney Geraldine, Maher Majel |
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Factor VIII haplotypes frequencies in Tunisian hemophiliacs A.
Diagnostic pathology 2011 6 (1): 54. Elmahmoudi Hejer, Belhedi Nejla, Jlizi Asma, Zahra Kaouther, Meddeb Balkis, Ben Ammar Elgaaied Amel, Gouider Em |
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Frequency of prothrombotic risk factors in patients with deep venous thrombosis and controls: their implications for thrombophilia screening in Chilean subjects.
Genetic testing and molecular biomarkers 2010 Oct 14 (5): 599-602. Guzmán Neftalí, Salazar Luis |
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von Willebrand factor variant p.Arg924Gln marks an allele associated with reduced von Willebrand factor and factor VIII levels.
Journal of thrombosis and haemostasis : JTH 2010 Sep 8 (9): 1986-93. Hickson N, Hampshire D, Winship P, Goudemand J, Schneppenheim R, Budde U, Castaman G, Rodeghiero F, Federici A B, James P, Peake I, Eikenboom J, Goodeve A, |
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Polymorphisms in genes involved in autoimmune disease and the risk of FVIII inhibitor development in Italian patients with haemophilia A.
Haemophilia : the official journal of the World Federation of Hemophilia 2010 May 16 (3): 469-73. Bafunno V, Santacroce R, Chetta M, D'Andrea G, Pisanelli D, Sessa F, Trotta T, Tagariello G, Peyvandi F, Margaglione |
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Analysis of cytokine genes polymorphism as markers for inhibitor development in haemophilia A.
International journal of immunogenetics 2010 Apr 37 (2): 79-82. Chaves D, Belisário A, Castro G, Santoro M, Rodrigues |
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Acquired haemophilia caused by non-haemophilic factor VIII gene variants.
Annals of hematology 2010 Jan . Tiede A, Eisert R, Czwalinna A, Miesbach W, Scharrer I, Ganser A |
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Study of mutations in Jordanian patients with haemophilia A: identification of five novel mutations.
Haemophilia : the official journal of the World Federation of Hemophilia 2010 Jan 16 (1): 136-42. Awidi A, Ramahi M, Alhattab D, Mefleh R, Dweiri M, Bsoul N, Magablah A, Arafat E, Barqawi M, Bishtawi M, Haddadeen E, Falah M, Tarawneh B, Swaidan S, Fauori |
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The impact of prothrombotic mutations on factor consumption in adult patients with severe hemophilia.
Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis 2009 Dec 15 (6): 660-5. Ar M Cem, Baykara Onur, Buyru Ayse Nur, Baslar Zaf |
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Factor VIII gene (F8) mutations as predictors of outcome in immune tolerance induction of hemophilia A patients with high-responding inhibitors.
Journal of thrombosis and haemostasis : JTH 2009 Nov 7 (11): 1809-15. Coppola A, Margaglione M, Santagostino E, Rocino A, Grandone E, Mannucci P M, Di Minno G, |
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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 |
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Profiling of factor VIII mutations in Korean haemophilia A.
Haemophilia : the official journal of the World Federation of Hemophilia 2009 Nov 15 (6): 1311-7. Hwang S H, Kim M J, Lim J A, Kim H C, Kim H |
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Intensive peri-operative use of factor VIII and the Arg593-->Cys mutation are risk factors for inhibitor development in mild/moderate hemophilia A.
Journal of thrombosis and haemostasis : JTH 2009 Jun 7 (6): 930-7. Eckhardt C L, Menke L A, van Ommen C H, van der Lee J H, Geskus R B, Kamphuisen P W, Peters M, Fijnvandraat |
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Risk factors for inhibitor formation in haemophilia: a prevalent case-control study.
Haemophilia : the official journal of the World Federation of Hemophilia 2009 Jun . Ragni MV, Ojeifo O, Feng J, Yan J, Hill KA, Sommer SS, Trucco MN, Brambilla DJ |
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Inhibitors of factor VIII in black patients with hemophilia.
The New England journal of medicine 2009 Apr 360 (16): 1618-27. Viel Kevin R, Ameri Afshin, Abshire Thomas C, Iyer Rathi V, Watts Raymond G, Lutcher Charles, Channell Cynthia, Cole Shelley A, Fernstrom Karl M, Nakaya Shelley, Kasper Carol K, Thompson Arthur R, Almasy Laura, Howard Tom |
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Screening for hemophilia A carriers: utility of PCR-RFLP--based polymorphism analysis.
Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis 2009 Feb 15 (1): 78-83. Tasleem Raza Syed, Husain Nuzhat, Kumar Ashuto |
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Risk stratification for inhibitor development at first treatment for severe hemophilia A: a tool for clinical practice.
Journal of thrombosis and haemostasis : JTH 2008 Dec 6 (12): 2048-54. ter Avest P C, Fischer K, Mancuso M E, Santagostino E, Yuste V J, van den Berg H M, van der Bom J G, |
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[Frequency of intron 1 inversion of factor VIII gene in Chinese hemophilia A patients with case report of a female patient with heterozygous intron 1 inversion].
Zhonghua yi xue za zhi 2008 Oct 88 (38): 2672-4. Yan Zhen-yu, Liang Yan, Yan Mei, Fan Lian-kai, Xiao Bai, Hua Bao-lai, Liu Jing-zhong, Zhao Yong-qia |
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Inhibitor-Immunology-Study. Different HLA-types seem to be involved in the inhibitor development in haemophilia A.
Hämostaseologie 2008 Oct 28 Suppl 1 S26-8. Wieland I, Wermes C, Eifrig B, Holstein K, Pollmann H, Siegmund B, Bidlingmaier C, Kurnik K, Nimtz-Talaska A, Niekrens C, Eisert R, Tiede A, Ebenebe C, Lakomek M, Hoy L, Welte K, Sykora K |
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Utility of an exon 14 BslI polymorphism for improved genetic diagnosis of hemophilia A in Indian population.
Prenatal diagnosis 2008 Oct 28 (10): 920-2. Mukundan Preethi, Shetty Shrimati, Kulkarni Bipin, Ghosh Kanjaks |
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Nonstroke arterial thrombosis in children: Hacettepe experience.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis 2008 Sep 19 (6): 519-24. Balci Yasemin Isik, Unal Sule, Gumruk Fatma, Cetin Mualla, Ozkutlu Suheyla, Gurgey Aytem |
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Factor 8 (F8) gene mutation profile of Turkish hemophilia A patients with inhibitors.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis 2008 Jul 19 (5): 383-8. Fidanci Inanç D, Kavakli Kaan, Uçar Canan, Timur Cetin, Meral Adalet, Kilinç Yurdanur, Sayilan Hülya, Kazanci Elif, Ca?layan S Han |
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Factor VIII genotype and inhibitor development in patients with haemophilia A: highest risk in patients with splice site mutations.
Haemophilia : the official journal of the World Federation of Hemophilia 2008 Jul 14 (4): 729-35. Boekhorst J, Lari G R, D'Oiron R, Costa J M, Nováková I R O, Ala F A, Lavergne J M, VAN Heerde W |
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Mutational spectrum of F8 gene and prothrombotic gene variants in haemophilia A patients from Southern Italy.
Haemophilia : the official journal of the World Federation of Hemophilia 2008 Jul 14 (4): 796-803. Sanna V, Zarrilli F, Nardiello P, D'Argenio V, Rocino A, Coppola A, DI Minno G, Castaldo |
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The spectrum of the factor 8 (F8) defects in Taiwanese patients with haemophilia A.
Haemophilia : the official journal of the World Federation of Hemophilia 2008 Jul 14 (4): 787-95. Ma G-C, Chang S-P, Chen M, Kuo S-J, Chang C-S, Shen M |
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Genotype-phenotype correlation in combined deficiency of factor V and factor VIII.
Blood 2008 Jun 111 (12): 5592-600. Zhang Bin, Spreafico Marta, Zheng Chunlei, Yang Angela, Platzer Petra, Callaghan Michael U, Avci Zekai, Ozbek Namik, Mahlangu Johnny, Haw Tabitha, Kaufman Randal J, Marchant Kandice, Tuddenham Edward G D, Seligsohn Uri, Peyvandi Flora, Ginsburg Dav |
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The use of DNA markers for carrier detection and prenatal diagnosis of haemophilia A in Egyptian families.
Haemophilia : the official journal of the World Federation of Hemophilia 2008 Jun . Hussein IR, El-Beshlawy A, Salem A, Mosaad R, Zaghloul N, Ragab L, Fayek H, Gaber K, El-Ekiabi M |
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Heritable thrombophilia-hypofibrinolysis and osteonecrosis of the femoral head.
Clinical orthopaedics and related research 2008 May 466 (5): 1034-40. Glueck Charles J, Freiberg Richard A, Wang Pi |
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Spectrum of factor VIII mutations in Arab patients with severe haemophilia A.
Haemophilia : the official journal of the World Federation of Hemophilia 2008 May 14 (3): 484-8. Abu-Amero K K, Hellani A, Al-Mahed M, Al-Sheikh |
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The Italian AICE-Genetics hemophilia A database: results and correlation with clinical phenotype.
Haematologica 2008 May 93 (5): 722-8. Margaglione Maurizio, Castaman Giancarlo, Morfini Massimo, Rocino Angiola, Santagostino Elena, Tagariello Giuseppe, Tagliaferri Anna Rita, Zanon Ezio, Bicocchi Maria Patrizia, Castaldo Giuseppe, Peyvandi Flora, Santacroce Rosa, Torricelli Francesca, Grandone Elvira, Mannucci Pier Mannuccio, |
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Screening of mutations of hemophilia A in 40 Italian patients: a novel G-to-A mutation in intron 10 of the F8 gene as a putative cause of mild hemophilia A in southern Italy.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis 2008 Apr 19 (3): 197-202. Santacroce Rosa, Santoro Rita, Sessa Francesco, Iannaccaro Piergiorgio, Sarno Michelina, Longo Vittoria, Gallone Anna, Vecchione Gennaro, Muleo Gaetano, Margaglione Mauriz |
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Increased frequency of the CTLA-4 49 A/G polymorphism in patients with acquired haemophilia A compared to healthy controls.
Haemophilia : the official journal of the World Federation of Hemophilia 2008 Mar 14 (2): 355-60. Pavlova A, Diaz-Lacava A, Zeitler H, Satoguina J, Niemann B, Krause M, Scharrer I, Hoerauf A, Wienker T, Oldenburg |
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Identification of 217 unreported mutations in the F8 gene in a group of 1,410 unselected Italian patients with hemophilia A.
Journal of human genetics 2008 53 (3): 275-84. Santacroce R, Acquila M, Belvini D, Castaldo G, Garagiola I, Giacomelli S H, Lombardi A M, Minuti B, Riccardi F, Salviato R, Tagliabue L, Grandone E, Margaglione M, |
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Analysing two dinucleotide repeats of FVIII gene in Iranian population.
Haemophilia : the official journal of the World Federation of Hemophilia 2007 Nov 13 (6): 740-4. Rabbani B, Rezaeian A, Khanahmad H, Bagheri R, Kamali E, Zeinali |
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Polymorphisms in the CTLA-4 gene and inhibitor development in patients with severe hemophilia A.
Journal of thrombosis and haemostasis : JTH 2007 Feb 5 (2): 263-5. Astermark J, Wang X, Oldenburg J, Berntorp E, Lefvert A-K, |
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[A study on the (CA)n in FVIII gene in Han ethnic group in Guangxi Zhuang Autonomous Region by amplification polymorphisms combined with silver staining].
Zhonghua er ke za zhi. Chinese journal of pediatrics 2007 Jan 45 (1): 55-8. Zhu Chun-jiang, Liu Jing-zhong, Ou Wei-lin, Long Gui-fang, Liang Yan, Wang Zhan-yong, Zheng Ming- |
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Allele frequencies of three factor VIII gene polymorphisms in Iranian populations and their application in hemophilia A carrier detection.
American journal of hematology 2006 May 81 (5): 335-9. Azimifar S Babak, Seyedna S Yoosef, Zeinali Siro |
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Polymorphisms in the IL10 but not in the IL1beta and IL4 genes are associated with inhibitor development in patients with hemophilia A.
Blood 2006 Apr 107 (8): 3167-72. Astermark Jan, Oldenburg Johannes, Pavlova Anna, Berntorp Erik, Lefvert Ann-Kari, |
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Identification of factor VIII gene mutations in 101 patients with haemophilia A: mutation analysis by inversion screening and multiplex PCR and CSGE and molecular modelling of 10 novel missense substitutions.
Haemophilia : the official journal of the World Federation of Hemophilia 2005 Sep 11 (5): 481-91. Jayandharan G, Shaji RV, Baidya S, Nair SC, Chandy M, Srivastava A |
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Prevalence of hyperhomocysteinaemia, activated protein C resistance and prothrombin gene mutation in inflammatory bowel disease.
European journal of gastroenterology & hepatology 2005 Jul 17 (7): 739-44. Mahmood Asif, Needham Jane, Prosser Jeanne, Mainwaring Jason, Trebble Tim, Mahy Gillian, Ramage Jo |
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The factor VIII D1241E polymorphism is associated with decreased factor VIII activity and not with activated protein C resistance levels.
Thrombosis and haemostasis 2005 Mar 93 (3): 453-6. Scanavini Daniela, Legnani Cristina, Lunghi Barbara, Mingozzi Federico, Palareti Gualtiero, Bernardi Frances |
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Identification of new dinucleotide-repeat polymorphisms in factor VIII gene using fluorescent PCR.
Haemophilia : the official journal of the World Federation of Hemophilia 2005 Jan 11 (1): 38-42. Kim J-W, Park S-Y, Kim Y-M, Kim J-M, Kim D-J, Ryu H |
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HLA class II genotype and factor VIII inhibitors in mild haemophilia A patients with an Arg593 to Cys mutation.
Haemophilia : the official journal of the World Federation of Hemophilia 2004 Sep 10 (5): 509-14. Bril W S, MacLean P E, Kaijen P H P, van den Brink E N, Lardy N M, Fijnvandraat K, Peters M, Voorberg |
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Risk factors for venous thrombosis in the black population.
Thrombosis and haemostasis 2003 Nov 90 (5): 835-8. Patel Raj K, Ford Elizabeth, Thumpston Jill, Arya Roop |
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Genetic risk factors for cerebrovascular disease in children with sickle cell disease: design of a case-control association study and genomewide screen.
BMC medical genetics 2003 Jul 4 (): 6. Adams Gaye T, Snieder Harold, McKie Virgil C, Clair Betsy, Brambilla Donald, Adams Robert J, Kutlar Ferdane, Kutlar Abdull |
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Prenatal diagnosis in hemophilia A using factor VIII gene polymorphism--Indian experience.
Annals of hematology 2003 Jul 82 (7): 427-30. Chowdhury M R, Tiwari M, Kabra M, Menon P S |
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Factor VIII gene polymorphisms in the Asian Indian population.
Haemophilia : the official journal of the World Federation of Hemophilia 2000 Nov 6 (6): 625-30. Chowdhury M R, Herrmann F H, Schroder W, Lambert C T, Lalloz M R, Layton M, Kumbnani H K, Kabra M, Menon P S, Verma I |
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St 14 (DX S52) VNTR polymorphism in the Indian population and its application in carrier detection and prenatal diagnosis of haemophilia A families.
Haematologia 2000 30 (3): 203-7. Shetty S, Ghosh K, Mohanty |
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Carrier detection and prenatal diagnosis in families with haemophilia.
The National medical journal of India 0 14 (2): 81-3. Shetty S, Ghosh K, Bhide A, Mohanty |
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Factor VIII gene haplotypes and linkage disequilibrium for the indirect genetic analysis of hemophilia A in India.
Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis 0 15 (3): 334-9. Singh Monica, Singh Puneetp |
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Prevalence of the intron 22 inversion of the factor VIII gene and inhibitor development in Polish patients with severe hemophilia A.
Archivum immunologiae et therapiae experimentalis 0 53 (4): 352-6. Sawecka Jadwiga, Skulimowska Joanna, Windyga Jerzy, Lopaciuk Stanis?aw, Ko?cielak Jer |
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- Page last updated:Dec 5, 2019
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