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Absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy in folliculin-interacting protein 1 deficiency.
Saettini F, Poli C, Vengoechea J, Bonanomi S, Orellana JC, Fazio G, Rodriguez FH, Noguera LP, Booth C, Jarur-Chamy V, Shams M, Iascone M, Vukic M, Gasperini S, Quadri M, Barroeta Seijas A, Rivers E, Mauri M, Badolato R, Cazzaniga G, Bugarin C, Gaipa G, Kroes WGM, Moratto D, van Oostaijen-Ten Dam MM, Baas F, van der Maarel S, Piazza R, Coban-Akdemir ZH, Lupski JR, Yuan B, Chinn IK, Daxinger L, Biondi A. Saettini F, et al. Among authors: booth c. Blood. 2021 Jan 28;137(4):493-499. doi: 10.1182/blood.2020006441. Blood. 2021. PMID: 32905580 Free PMC article.
X-linked lymphoproliferative disease due to SAP/SH2D1A deficiency: a multicenter study on the manifestations, management and outcome of the disease.
Booth C, Gilmour KC, Veys P, Gennery AR, Slatter MA, Chapel H, Heath PT, Steward CG, Smith O, O'Meara A, Kerrigan H, Mahlaoui N, Cavazzana-Calvo M, Fischer A, Moshous D, Blanche S, Pachlopnik Schmid J, Latour S, de Saint-Basile G, Albert M, Notheis G, Rieber N, Strahm B, Ritterbusch H, Lankester A, Hartwig NG, Meyts I, Plebani A, Soresina A, Finocchi A, Pignata C, Cirillo E, Bonanomi S, Peters C, Kalwak K, Pasic S, Sedlacek P, Jazbec J, Kanegane H, Nichols KE, Hanson IC, Kapoor N, Haddad E, Cowan M, Choo S, Smart J, Arkwright PD, Gaspar HB. Booth C, et al. Blood. 2011 Jan 6;117(1):53-62. doi: 10.1182/blood-2010-06-284935. Epub 2010 Oct 6. Blood. 2011. PMID: 20926771 Free PMC article.
Outcome of hematopoietic stem cell transplantation for adenosine deaminase-deficient severe combined immunodeficiency.
Hassan A, Booth C, Brightwell A, Allwood Z, Veys P, Rao K, Hönig M, Friedrich W, Gennery A, Slatter M, Bredius R, Finocchi A, Cancrini C, Aiuti A, Porta F, Lanfranchi A, Ridella M, Steward C, Filipovich A, Marsh R, Bordon V, Al-Muhsen S, Al-Mousa H, Alsum Z, Al-Dhekri H, Al Ghonaium A, Speckmann C, Fischer A, Mahlaoui N, Nichols KE, Grunebaum E, Al Zahrani D, Roifman CM, Boelens J, Davies EG, Cavazzana-Calvo M, Notarangelo L, Gaspar HB; Inborn Errors Working Party of the European Group for Blood and Marrow Transplantation and European Society for Immunodeficiency. Hassan A, et al. Among authors: booth c. Blood. 2012 Oct 25;120(17):3615-24; quiz 3626. doi: 10.1182/blood-2011-12-396879. Epub 2012 Jul 12. Blood. 2012. PMID: 22791287 Free article.
Treatment dilemmas in asymptomatic children with primary hemophagocytic lymphohistiocytosis.
Lucchini G, Marsh R, Gilmour K, Worth A, Nademi Z, Rao A, Booth C, Amrolia P, Silva J, Chiesa R, Wynn R, Lehmberg K, Astigarraga I, Güngör T, Stary J, Moshous D, Ifversen M, Zinn D, Jordan M, Kumar A, Yasumi T, Veys P, Rao K. Lucchini G, et al. Among authors: booth c. Blood. 2018 Nov 8;132(19):2088-2096. doi: 10.1182/blood-2018-01-827485. Epub 2018 Aug 13. Blood. 2018. PMID: 30104219 Free article.
New insights into risk factors for transplant-associated thrombotic microangiopathy in pediatric HSCT.
Elfeky R, Lucchini G, Lum SH, Ottaviano G, Builes N, Nademi Z, Battersby A, Flood T, Owens S, Cant AJ, Young H, Greener S, Walsh P, Kavanagh D, Annavarapu S, Rao K, Amrolia P, Chiesa R, Worth A, Booth C, Skinner R, Doncheva B, Standing J, Gennery AR, Qasim W, Slatter M, Veys P. Elfeky R, et al. Among authors: booth c. Blood Adv. 2020 Jun 9;4(11):2418-2429. doi: 10.1182/bloodadvances.2019001315. Blood Adv. 2020. PMID: 32492158 Free PMC article.
Whole-genome sequencing of a sporadic primary immunodeficiency cohort.
Thaventhiran JED, Lango Allen H, Burren OS, Rae W, Greene D, Staples E, Zhang Z, Farmery JHR, Simeoni I, Rivers E, Maimaris J, Penkett CJ, Stephens J, Deevi SVV, Sanchis-Juan A, Gleadall NS, Thomas MJ, Sargur RB, Gordins P, Baxendale HE, Brown M, Tuijnenburg P, Worth A, Hanson S, Linger RJ, Buckland MS, Rayner-Matthews PJ, Gilmour KC, Samarghitean C, Seneviratne SL, Sansom DM, Lynch AG, Megy K, Ellinghaus E, Ellinghaus D, Jorgensen SF, Karlsen TH, Stirrups KE, Cutler AJ, Kumararatne DS, Chandra A, Edgar JDM, Herwadkar A, Cooper N, Grigoriadou S, Huissoon AP, Goddard S, Jolles S, Schuetz C, Boschann F; Primary Immunodeficiency Consortium for the NIHR Bioresource; Lyons PA, Hurles ME, Savic S, Burns SO, Kuijpers TW, Turro E, Ouwehand WH, Thrasher AJ, Smith KGC. Thaventhiran JED, et al. Nature. 2020 Jul;583(7814):90-95. doi: 10.1038/s41586-020-2265-1. Epub 2020 May 6. Nature. 2020. PMID: 32499645 Free PMC article.
Quercetin ameliorates XIAP deficiency-associated hyperinflammation.
Chiang SCC, Owsley E, Panchal N, Chaturvedi V, Terrell CE, Jordan MB, Mehta PA, Davies SM, Akeno N, Booth C, Marsh RA. Chiang SCC, et al. Among authors: booth c. Blood. 2022 Aug 18;140(7):706-715. doi: 10.1182/blood.2021014335. Blood. 2022. PMID: 35687753 Free article.
Gene therapy for primary immunodeficiency.
Booth C, Gaspar HB, Thrasher AJ. Booth C, et al. Curr Opin Pediatr. 2011 Dec;23(6):659-66. doi: 10.1097/MOP.0b013e32834cd67a. Curr Opin Pediatr. 2011. PMID: 21970832 Review.
1,620 results