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615 results

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Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss.
Stover EH, Borthwick KJ, Bavalia C, Eady N, Fritz DM, Rungroj N, Giersch AB, Morton CC, Axon PR, Akil I, Al-Sabban EA, Baguley DM, Bianca S, Bakkaloglu A, Bircan Z, Chauveau D, Clermont MJ, Guala A, Hulton SA, Kroes H, Li Volti G, Mir S, Mocan H, Nayir A, Ozen S, Rodriguez Soriano J, Sanjad SA, Tasic V, Taylor CM, Topaloglu R, Smith AN, Karet FE. Stover EH, et al. Among authors: taylor cm. J Med Genet. 2002 Nov;39(11):796-803. doi: 10.1136/jmg.39.11.796. J Med Genet. 2002. PMID: 12414817 Free PMC article.
Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III.
Simon DB, Bindra RS, Mansfield TA, Nelson-Williams C, Mendonca E, Stone R, Schurman S, Nayir A, Alpay H, Bakkaloglu A, Rodriguez-Soriano J, Morales JM, Sanjad SA, Taylor CM, Pilz D, Brem A, Trachtman H, Griswold W, Richard GA, John E, Lifton RP. Simon DB, et al. Among authors: taylor cm. Nat Genet. 1997 Oct;17(2):171-8. doi: 10.1038/ng1097-171. Nat Genet. 1997. PMID: 9326936
A case of neonatal Bartter's syndrome.
Wong W, Hulton SA, Taylor CM, Raafat F, Lote CJ, Lindop G. Wong W, et al. Among authors: taylor cm. Pediatr Nephrol. 1996 Aug;10(4):414-8. doi: 10.1007/s004670050131. Pediatr Nephrol. 1996. PMID: 8865234
Urinary L-lactate excretion is increased in renal Fanconi syndrome.
Thirumurugan A, Thewles A, Gilbert RD, Hulton SA, Milford DV, Lote CJ, Taylor CM. Thirumurugan A, et al. Among authors: taylor cm. Nephrol Dial Transplant. 2004 Jul;19(7):1767-73. doi: 10.1093/ndt/gfh213. Epub 2004 May 5. Nephrol Dial Transplant. 2004. PMID: 15128879
Urinary tract effects of HPSE2 mutations.
Stuart HM, Roberts NA, Hilton EN, McKenzie EA, Daly SB, Hadfield KD, Rahal JS, Gardiner NJ, Tanley SW, Lewis MA, Sites E, Angle B, Alves C, Lourenço T, Rodrigues M, Calado A, Amado M, Guerreiro N, Serras I, Beetz C, Varga RE, Silay MS, Darlow JM, Dobson MG, Barton DE, Hunziker M, Puri P, Feather SA, Goodship JA, Goodship TH, Lambert HJ, Cordell HJ; UK VUR Study Group; Saggar A, Kinali M; 4C Study Group; Lorenz C, Moeller K, Schaefer F, Bayazit AK, Weber S, Newman WG, Woolf AS. Stuart HM, et al. J Am Soc Nephrol. 2015 Apr;26(4):797-804. doi: 10.1681/ASN.2013090961. Epub 2014 Aug 21. J Am Soc Nephrol. 2015. PMID: 25145936 Free PMC article.
Cyclosporin-related nephrotoxicity in children with nephrotic syndrome.
Ganesan V, Milford DV, Taylor CM, Hulton SA, Parvaresh S, Ramani P. Ganesan V, et al. Among authors: taylor cm. Pediatr Nephrol. 2002 Mar;17(3):225-6; author reply 227. doi: 10.1007/s00467-001-0810-1. Pediatr Nephrol. 2002. PMID: 11956868 No abstract available.
615 results