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Page 1
Thrombosis and acute lymphoblastic leukaemia.
Payne JH, Vora AJ. Payne JH, et al. Br J Haematol. 2007 Aug;138(4):430-45. doi: 10.1111/j.1365-2141.2007.06677.x. Epub 2007 Jun 29. Br J Haematol. 2007. PMID: 17608766 Free article. Review.
Venous thromboembolism occurring during adolescence.
Biss T, Alikhan R, Payne J, Alamelu J, Williams M, Richards M, Mathias M, Tunstall O, Chalmers E. Biss T, et al. Arch Dis Child. 2016 May;101(5):427-32. doi: 10.1136/archdischild-2015-309875. Epub 2016 Jan 19. Arch Dis Child. 2016. PMID: 26787610
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.
Carss KJ, Arno G, Erwood M, Stephens J, Sanchis-Juan A, Hull S, Megy K, Grozeva D, Dewhurst E, Malka S, Plagnol V, Penkett C, Stirrups K, Rizzo R, Wright G, Josifova D, Bitner-Glindzicz M, Scott RH, Clement E, Allen L, Armstrong R, Brady AF, Carmichael J, Chitre M, Henderson RHH, Hurst J, MacLaren RE, Murphy E, Paterson J, Rosser E, Thompson DA, Wakeling E, Ouwehand WH, Michaelides M, Moore AT; NIHR-BioResource Rare Diseases Consortium; Webster AR, Raymond FL. Carss KJ, et al. Am J Hum Genet. 2017 Jan 5;100(1):75-90. doi: 10.1016/j.ajhg.2016.12.003. Epub 2016 Dec 29. Am J Hum Genet. 2017. PMID: 28041643 Free PMC article.
First-line immune tolerance induction for children with severe haemophilia A: A protocol from the UK Haemophilia Centre Doctors' Organisation Inhibitor and Paediatric Working Parties.
Collins P, Chalmers E, Alamelu J, Hay C, Liesner R, Makris M, Mathias M, Payne J, Rangarajan S, Richards M, Talks K, Tunstall O, Williams M, Hart DP. Collins P, et al. Haemophilia. 2017 Sep;23(5):654-659. doi: 10.1111/hae.13264. Epub 2017 Jun 2. Haemophilia. 2017. PMID: 28574205 No abstract available.
Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension.
Hadinnapola C, Bleda M, Haimel M, Screaton N, Swift A, Dorfmüller P, Preston SD, Southwood M, Hernandez-Sanchez J, Martin J, Treacy C, Yates K, Bogaard H, Church C, Coghlan G, Condliffe R, Corris PA, Gibbs S, Girerd B, Holden S, Humbert M, Kiely DG, Lawrie A, Machado R, MacKenzie Ross R, Moledina S, Montani D, Newnham M, Peacock A, Pepke-Zaba J, Rayner-Matthews P, Shamardina O, Soubrier F, Southgate L, Suntharalingam J, Toshner M, Trembath R, Vonk Noordegraaf A, Wilkins MR, Wort SJ, Wharton J; NIHR BioResource–Rare Diseases Consortium; UK National Cohort Study of Idiopathic and Heritable PAH; Gräf S, Morrell NW. Hadinnapola C, et al. Circulation. 2017 Nov 21;136(21):2022-2033. doi: 10.1161/CIRCULATIONAHA.117.028351. Epub 2017 Sep 28. Circulation. 2017. PMID: 28972005 Free PMC article.
BSH Guideline: management of thrombotic and haemostatic issues in paediatric malignancy.
Sibson KR, Biss TT, Furness CL, Grainger JD, Hough RE, Macartney C, Payne JH, Chalmers EA; British Society for Haematology. Sibson KR, et al. Among authors: payne jh. Br J Haematol. 2018 Feb;180(4):511-525. doi: 10.1111/bjh.15112. Epub 2018 Jan 31. Br J Haematol. 2018. PMID: 29384193 Free article. No abstract available.
Intracranial haemorrhage in children with inherited bleeding disorders in the UK 2003-2015: A national cohort study.
Chalmers EA, Alamelu J, Collins PW, Mathias M, Payne J, Richards M, Tunstall O, Williams M, Palmer B, Mumford A; Paediatric & Rare Disorders Working Parties of the UK Haemophilia Doctors Organization. Chalmers EA, et al. Haemophilia. 2018 Jul;24(4):641-647. doi: 10.1111/hae.13461. Epub 2018 Apr 10. Haemophilia. 2018. PMID: 29635852 Free article.
De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures.
Ito Y, Carss KJ, Duarte ST, Hartley T, Keren B, Kurian MA, Marey I, Charles P, Mendonça C, Nava C, Pfundt R, Sanchis-Juan A, van Bokhoven H, van Essen A, van Ravenswaaij-Arts C; NIHR BioResource; Care4Rare Canada Consortium; Boycott KM, Kernohan KD, Dyack S, Raymond FL. Ito Y, et al. Am J Hum Genet. 2018 Jul 5;103(1):144-153. doi: 10.1016/j.ajhg.2018.06.001. Epub 2018 Jun 28. Am J Hum Genet. 2018. PMID: 29961568 Free PMC article.
121 results