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Items: 1 to 20 of 126

1.

ATP6B1 gene mutations associated with distal renal tubular acidosis and deafness in a child.

Hahn H, Kang HG, Ha IS, Cheong HI, Choi Y.

Am J Kidney Dis. 2003 Jan;41(1):238-43.

PMID:
12500243
2.

Confirmation of the ATP6B1 gene as responsible for distal renal tubular acidosis.

Ruf R, Rensing C, Topaloglu R, Guay-Woodford L, Klein C, Vollmer M, Otto E, Beekmann F, Haller M, Wiedensohler A, Leumann E, Antignac C, Rizzoni G, Filler G, Brandis M, Weber JL, Hildebrandt F.

Pediatr Nephrol. 2003 Feb;18(2):105-9. Epub 2002 Dec 18.

PMID:
12579397
3.

Distal renal tubular acidosis with nerve deafness secondary to ATP6B1 gene mutation.

Naveen PS, Srikanth L, Venkatesh K, Sarma PV, Sridhar N, Krishnakishore C, Sandeep Y, Manjusha Y, Sivakumar V.

Saudi J Kidney Dis Transpl. 2015 Jan;26(1):119-21.

4.

Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing.

Smith AN, Skaug J, Choate KA, Nayir A, Bakkaloglu A, Ozen S, Hulton SA, Sanjad SA, Al-Sabban EA, Lifton RP, Scherer SW, Karet FE.

Nat Genet. 2000 Sep;26(1):71-5.

PMID:
10973252
5.

Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness.

Karet FE, Finberg KE, Nelson RD, Nayir A, Mocan H, Sanjad SA, Rodriguez-Soriano J, Santos F, Cremers CW, Di Pietro A, Hoffbrand BI, Winiarski J, Bakkaloglu A, Ozen S, Dusunsel R, Goodyer P, Hulton SA, Wu DK, Skvorak AB, Morton CC, Cunningham MJ, Jha V, Lifton RP.

Nat Genet. 1999 Jan;21(1):84-90.

PMID:
9916796
6.

Genetic studies in a family with distal renal tubular acidosis and sensorineural deafness.

Sethi SK, Singh N, Gil H, Bagga A.

Indian Pediatr. 2009 May;46(5):425-7.

7.

Hereditary distal renal tubular acidosis: new understandings.

Batlle D, Ghanekar H, Jain S, Mitra A.

Annu Rev Med. 2001;52:471-84. Review.

PMID:
11160790
8.

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.

J Med Genet. 2002 Nov;39(11):796-803.

9.
10.

Genetic investigation of autosomal recessive distal renal tubular acidosis: evidence for early sensorineural hearing loss associated with mutations in the ATP6V0A4 gene.

Vargas-Poussou R, Houillier P, Le Pottier N, Strompf L, Loirat C, Baudouin V, Macher MA, Déchaux M, Ulinski T, Nobili F, Eckart P, Novo R, Cailliez M, Salomon R, Nivet H, Cochat P, Tack I, Fargeot A, Bouissou F, Kesler GR, Lorotte S, Godefroid N, Layet V, Morin G, Jeunemaître X, Blanchard A.

J Am Soc Nephrol. 2006 May;17(5):1437-43. Epub 2006 Apr 12.

11.

Medullary sponge kidney associated with primary distal renal tubular acidosis and mutations of the H+-ATPase genes.

Carboni I, Andreucci E, Caruso MR, Ciccone R, Zuffardi O, Genuardi M, Pela I, Giglio S.

Nephrol Dial Transplant. 2009 Sep;24(9):2734-8. doi: 10.1093/ndt/gfp160. Epub 2009 Apr 13.

12.

Familial renal tubular acidosis.

Alper SL.

J Nephrol. 2010 Nov-Dec;23 Suppl 16:S57-76. Review.

PMID:
21170890
14.

Localization of a gene for autosomal recessive distal renal tubular acidosis with normal hearing (rdRTA2) to 7q33-34.

Karet FE, Finberg KE, Nayir A, Bakkaloglu A, Ozen S, Hulton SA, Sanjad SA, Al-Sabban EA, Medina JF, Lifton RP.

Am J Hum Genet. 1999 Dec;65(6):1656-65.

15.

Novel mutations in ATP6V0A4 are associated with atypical progressive sensorineural hearing loss in a Chinese patient with distal renal tubular acidosis.

Li X, Chai Y, Tao Z, Li L, Huang Z, Li Y, Wu H, Yang T.

Int J Pediatr Otorhinolaryngol. 2012 Jan;76(1):152-4. doi: 10.1016/j.ijporl.2011.10.017. Epub 2011 Nov 16.

PMID:
22093743
16.

Mice lacking the B1 subunit of H+ -ATPase have normal hearing.

Dou H, Finberg K, Cardell EL, Lifton R, Choo D.

Hear Res. 2003 Jun;180(1-2):76-84.

PMID:
12782355
17.

Audiometric and imaging characteristics of distal renal tubular acidosis and deafness.

Joshua B, Kaplan DM, Raveh E, Lotan D, Anikster Y.

J Laryngol Otol. 2008 Feb;122(2):193-8. Epub 2007 Aug 1.

PMID:
17669226
18.

Inherited renal tubular acidosis.

Shayakul C, Alper SL.

Curr Opin Nephrol Hypertens. 2000 Sep;9(5):541-6. Review.

PMID:
10990375
19.

Localization and regulation of the ATP6V0A4 (a4) vacuolar H+-ATPase subunit defective in an inherited form of distal renal tubular acidosis.

Stehberger PA, Schulz N, Finberg KE, Karet FE, Giebisch G, Lifton RP, Geibel JP, Wagner CA.

J Am Soc Nephrol. 2003 Dec;14(12):3027-38.

20.

A phenocopy of CAII deficiency: a novel genetic explanation for inherited infantile osteopetrosis with distal renal tubular acidosis.

Borthwick KJ, Kandemir N, Topaloglu R, Kornak U, Bakkaloglu A, Yordam N, Ozen S, Mocan H, Shah GN, Sly WS, Karet FE.

J Med Genet. 2003 Feb;40(2):115-21.

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