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Page 1
Kinase mutant Btk results in atypical X-linked agammaglobulinaemia phenotype.
Gaspar HB, Ferrando M, Caragol I, Hernandez M, Bertran JM, De Gracia X, Lester T, Kinnon C, Ashton E, Espanol T. Gaspar HB, et al. Among authors: ashton e. Clin Exp Immunol. 2000 May;120(2):346-50. doi: 10.1046/j.1365-2249.2000.01230.x. Clin Exp Immunol. 2000. PMID: 10792386 Free PMC article.
Clinical impact of a targeted next-generation sequencing gene panel for autoinflammation and vasculitis.
Omoyinmi E, Standing A, Keylock A, Price-Kuehne F, Melo Gomes S, Rowczenio D, Nanthapisal S, Cullup T, Nyanhete R, Ashton E, Murphy C, Clarke M, Ahlfors H, Jenkins L, Gilmour K, Eleftheriou D, Lachmann HJ, Hawkins PN, Klein N, Brogan PA. Omoyinmi E, et al. Among authors: ashton e. PLoS One. 2017 Jul 27;12(7):e0181874. doi: 10.1371/journal.pone.0181874. eCollection 2017. PLoS One. 2017. PMID: 28750028 Free PMC article.
Genetic testing in children with surfactant dysfunction.
Turcu S, Ashton E, Jenkins L, Gupta A, Mok Q. Turcu S, et al. Among authors: ashton e. Arch Dis Child. 2013 Jul;98(7):490-5. doi: 10.1136/archdischild-2012-303166. Epub 2013 Apr 26. Arch Dis Child. 2013. PMID: 23625987
Simultaneous sequencing of 37 genes identified causative mutations in the majority of children with renal tubulopathies.
Ashton EJ, Legrand A, Benoit V, Roncelin I, Venisse A, Zennaro MC, Jeunemaitre X, Iancu D, Van't Hoff WG, Walsh SB, Godefroid N, Rotthier A, Del Favero J, Devuyst O, Schaefer F, Jenkins LA, Kleta R, Dahan K, Vargas-Poussou R, Bockenhauer D. Ashton EJ, et al. Kidney Int. 2018 Apr;93(4):961-967. doi: 10.1016/j.kint.2017.10.016. Epub 2018 Feb 15. Kidney Int. 2018. PMID: 29398133 Free article.
Clinical and molecular aspects of distal renal tubular acidosis in children.
Besouw MTP, Bienias M, Walsh P, Kleta R, Van't Hoff WG, Ashton E, Jenkins L, Bockenhauer D. Besouw MTP, et al. Among authors: ashton e. Pediatr Nephrol. 2017 Jun;32(6):987-996. doi: 10.1007/s00467-016-3573-4. Epub 2017 Feb 10. Pediatr Nephrol. 2017. PMID: 28188436 Free article.
Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study.
Schon KR, Horvath R, Wei W, Calabrese C, Tucci A, Ibañez K, Ratnaike T, Pitceathly RDS, Bugiardini E, Quinlivan R, Hanna MG, Clement E, Ashton E, Sayer JA, Brennan P, Josifova D, Izatt L, Fratter C, Nesbitt V, Barrett T, McMullen DJ, Smith A, Deshpande C, Smithson SF, Festenstein R, Canham N, Caulfield M, Houlden H, Rahman S, Chinnery PF; Genomics England Research Consortium. Schon KR, et al. Among authors: ashton e. BMJ. 2021 Nov 3;375:e066288. doi: 10.1136/bmj-2021-066288. BMJ. 2021. PMID: 34732400 Free PMC article. Clinical Trial.
Whole-exome sequencing and variant spectrum in children with suspected inherited renal tubular disorder: the East India Tubulopathy Gene Study.
Sinha R, Pradhan S, Banerjee S, Jahan A, Akhtar S, Pahari A, Raut S, Parakh P, Basu S, Srivastava P, Nayak S, Thenral SG, Ramprasad V, Ashton E, Bockenhauer D, Mandal K. Sinha R, et al. Among authors: ashton e. Pediatr Nephrol. 2022 Aug;37(8):1811-1836. doi: 10.1007/s00467-021-05388-y. Epub 2022 Jan 10. Pediatr Nephrol. 2022. PMID: 35006361
121 results