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464 results

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A novel syndrome of congenital sideroblastic anemia, B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD).
Wiseman DH, May A, Jolles S, Connor P, Powell C, Heeney MM, Giardina PJ, Klaassen RJ, Chakraborty P, Geraghty MT, Major-Cook N, Kannengiesser C, Thuret I, Thompson AA, Marques L, Hughes S, Bonney DK, Bottomley SS, Fleming MD, Wynn RF. Wiseman DH, et al. Among authors: connor p. Blood. 2013 Jul 4;122(1):112-23. doi: 10.1182/blood-2012-08-439083. Epub 2013 Apr 3. Blood. 2013. PMID: 23553769 Free PMC article.
Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD).
Chakraborty PK, Schmitz-Abe K, Kennedy EK, Mamady H, Naas T, Durie D, Campagna DR, Lau A, Sendamarai AK, Wiseman DH, May A, Jolles S, Connor P, Powell C, Heeney MM, Giardina PJ, Klaassen RJ, Kannengiesser C, Thuret I, Thompson AA, Marques L, Hughes S, Bonney DK, Bottomley SS, Wynn RF, Laxer RM, Minniti CP, Moppett J, Bordon V, Geraghty M, Joyce PB, Markianos K, Rudner AD, Holcik M, Fleming MD. Chakraborty PK, et al. Among authors: connor p. Blood. 2014 Oct 30;124(18):2867-71. doi: 10.1182/blood-2014-08-591370. Epub 2014 Sep 5. Blood. 2014. PMID: 25193871 Free PMC article.
Excellent outcome of matched unrelated donor transplantation in paediatric aplastic anaemia following failure with immunosuppressive therapy: a United Kingdom multicentre retrospective experience.
Samarasinghe S, Steward C, Hiwarkar P, Saif MA, Hough R, Webb D, Norton A, Lawson S, Qureshi A, Connor P, Carey P, Skinner R, Vora A, Pelidis M, Gibson B, Stewart G, Keogh S, Goulden N, Bonney D, Stubbs M, Amrolia P, Rao K, Meyer S, Wynn R, Veys P. Samarasinghe S, et al. Among authors: connor p. Br J Haematol. 2012 May;157(3):339-46. doi: 10.1111/j.1365-2141.2012.09066.x. Epub 2012 Feb 29. Br J Haematol. 2012. PMID: 22372373 Free article.
The role of immunotherapy in relapse/refractory precursor-B acute lymphoblastic leukaemia: real-life UK/Ireland experience in children and young adults.
Ottaviano G, Baird S, Bonney D, Connor P, Cummins M, Evans P, Gibson B, Hough R, Ingham D, Kelly A, Qureshi A, Lancaster D, Moppett J, Norton A, Payne J, Stockley S, Ghorashian S, Amrolia P, Qasim W, Vora A. Ottaviano G, et al. Among authors: connor p. Br J Haematol. 2021 Jan;192(2):e42-e44. doi: 10.1111/bjh.17198. Epub 2020 Nov 20. Br J Haematol. 2021. PMID: 33216967 Free article. No abstract available.
Human NK cell deficiency as a result of biallelic mutations in MCM10.
Mace EM, Paust S, Conte MI, Baxley RM, Schmit MM, Patil SL, Guilz NC, Mukherjee M, Pezzi AE, Chmielowiec J, Tatineni S, Chinn IK, Akdemir ZC, Jhangiani SN, Muzny DM, Stray-Pedersen A, Bradley RE, Moody M, Connor PP, Heaps AG, Steward C, Banerjee PP, Gibbs RA, Borowiak M, Lupski JR, Jolles S, Bielinsky AK, Orange JS. Mace EM, et al. Among authors: connor pp. J Clin Invest. 2020 Oct 1;130(10):5272-5286. doi: 10.1172/JCI134966. J Clin Invest. 2020. PMID: 32865517 Free PMC article.
Safety and efficacy of rivaroxaban in pediatric cerebral venous thrombosis (EINSTEIN-Jr CVT).
Connor P, Sánchez van Kammen M, Lensing AWA, Chalmers E, Kállay K, Hege K, Simioni P, Biss T, Bajolle F, Bonnet D, Grunt S, Kumar R, Lvova O, Bhat R, Van Damme A, Palumbo J, Santamaria A, Saracco P, Payne J, Baird S, Godder K, Labarque V, Male C, Martinelli I, Morales Soto M, Motwani J, Shah S, Hooimeijer HL, Prins MH, Kubitza D, Smith WT, Berkowitz SD, Pap AF, Majumder M, Monagle P, Coutinho JM. Connor P, et al. Blood Adv. 2020 Dec 22;4(24):6250-6258. doi: 10.1182/bloodadvances.2020003244. Blood Adv. 2020. PMID: 33351120 Free PMC article. Clinical Trial.
464 results