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Items: 1 to 20 of 119

1.

dRTA and hemolytic anemia: first detailed description of SLC4A1 A858D mutation in homozygous state.

Fawaz NA, Beshlawi IO, Al Zadjali S, Al Ghaithi HK, Elnaggari MA, Elnour I, Wali YA, Al-Said BB, Rehman JU, Pathare AV, Knox-Macaulay H, Alkindi SS.

Eur J Haematol. 2012 Apr;88(4):350-5. doi: 10.1111/j.1600-0609.2011.01739.x. Epub 2012 Jan 4.

PMID:
22126643
2.

Hematological abnormalities in patients with distal renal tubular acidosis and hemoglobinopathies.

Khositseth S, Sirikanaerat A, Khoprasert S, Opastirakul S, Kingwatanakul P, Thongnoppakhun W, Yenchitsomanus PT.

Am J Hematol. 2008 Jun;83(6):465-71. doi: 10.1002/ajh.21151.

3.

Hemolytic anemia and distal renal tubular acidosis in two Indian patients homozygous for SLC4A1/AE1 mutation A858D.

Shmukler BE, Kedar PS, Warang P, Desai M, Madkaikar M, Ghosh K, Colah RB, Alper SL.

Am J Hematol. 2010 Oct;85(10):824-8. doi: 10.1002/ajh.21836.

4.

Distal renal tubular acidosis associated with anion exchanger 1 mutations in children in Thailand.

Khositseth S, Sirikanerat A, Wongbenjarat K, Opastirakul S, Khoprasert S, Peuksungnern R, Wattanasirichaigoon D, Thongnoppakhun W, Viprakasit V, Yenchitsomanus PT.

Am J Kidney Dis. 2007 Jun;49(6):841-850.e1.

PMID:
17533027
5.

Autosomal recessive distal renal tubular acidosis caused by G701D mutation of anion exchanger 1 gene.

Yenchitsomanus PT, Vasuvattakul S, Kirdpon S, Wasanawatana S, Susaengrat W, Sreethiphayawan S, Chuawatana D, Mingkum S, Sawasdee N, Thuwajit P, Wilairat P, Malasit P, Nimmannit S.

Am J Kidney Dis. 2002 Jul;40(1):21-9.

PMID:
12087557
6.

Band 3 mutations, renal tubular acidosis and South-East Asian ovalocytosis in Malaysia and Papua New Guinea: loss of up to 95% band 3 transport in red cells.

Bruce LJ, Wrong O, Toye AM, Young MT, Ogle G, Ismail Z, Sinha AK, McMaster P, Hwaihwanje I, Nash GB, Hart S, Lavu E, Palmer R, Othman A, Unwin RJ, Tanner MJ.

Biochem J. 2000 Aug 15;350 Pt 1:41-51.

7.

Human anion exchanger1 mutations and distal renal tubular acidosis.

Yenchitsomanus PT.

Southeast Asian J Trop Med Public Health. 2003 Sep;34(3):651-8. Review.

PMID:
15115146
8.
9.

Distal renal tubular acidosis in Filipino children, caused by mutations of the anion-exchanger SLC4A1 (AE1, Band 3) gene.

Anacleto FE, Bruce LJ, Clayton P, Hegde S, Resontoc LP, Wrong O.

Nephron Physiol. 2010;114(2):p19-24. doi: 10.1159/000274484. Epub 2010 Jan 8.

PMID:
20068363
10.

Novel compound heterozygous SLC4A1 mutations in Thai patients with autosomal recessive distal renal tubular acidosis.

Sritippayawan S, Sumboonnanonda A, Vasuvattakul S, Keskanokwong T, Sawasdee N, Paemanee A, Thuwajit P, Wilairat P, Nimmannit S, Malasit P, Yenchitsomanus PT.

Am J Kidney Dis. 2004 Jul;44(1):64-70.

PMID:
15211439
11.

Tropical distal renal tubular acidosis: clinical and epidemiological studies in 78 patients.

Khositseth S, Bruce LJ, Walsh SB, Bawazir WM, Ogle GD, Unwin RJ, Thong MK, Sinha R, Choo KE, Chartapisak W, Kingwatanakul P, Sumboonnanonda A, Vasuvattakul S, Yenchitsomanus P, Wrong O.

QJM. 2012 Sep;105(9):861-77. doi: 10.1093/qjmed/hcs139. Review.

12.

The association between familial distal renal tubular acidosis and mutations in the red cell anion exchanger (band 3, AE1) gene.

Bruce LJ, Unwin RJ, Wrong O, Tanner MJ.

Biochem Cell Biol. 1998;76(5):723-8. Review.

PMID:
10353704
13.
14.

Familial distal renal tubular acidosis is associated with mutations in the red cell anion exchanger (Band 3, AE1) gene.

Bruce LJ, Cope DL, Jones GK, Schofield AE, Burley M, Povey S, Unwin RJ, Wrong O, Tanner MJ.

J Clin Invest. 1997 Oct 1;100(7):1693-707.

15.

Novel AE1 mutations in recessive distal renal tubular acidosis. Loss-of-function is rescued by glycophorin A.

Tanphaichitr VS, Sumboonnanonda A, Ideguchi H, Shayakul C, Brugnara C, Takao M, Veerakul G, Alper SL.

J Clin Invest. 1998 Dec 15;102(12):2173-9.

16.

A novel mutation in the anion exchanger 1 gene is associated with familial distal renal tubular acidosis and nephrocalcinosis.

Cheidde L, Vieira TC, Lima PR, Saad ST, Heilberg IP.

Pediatrics. 2003 Dec;112(6 Pt 1):1361-7.

PMID:
14654610
17.

Recessive distal renal tubular acidosis in Sarawak caused by AE1 mutations.

Choo KE, Nicoli TK, Bruce LJ, Tanner MJ, Ruiz-Linares A, Wrong OM.

Pediatr Nephrol. 2006 Feb;21(2):212-7. Epub 2005 Oct 27.

PMID:
16252102
18.

Identification of two novel mutations in the SLC4A1 gene in two unrelated Chinese families with distal renal tubular acidosis.

Zhang Z, Liu KX, He JW, Fu WZ, Yue H, Zhang H, Zhang CQ, Zhang ZL.

Arch Med Res. 2012 May;43(4):298-304. doi: 10.1016/j.arcmed.2012.05.001. Epub 2012 May 16.

PMID:
22609520
19.

Characterization of a highly polymorphic marker adjacent to the SLC4A1 gene and of kidney immunostaining in a family with distal renal tubular acidosis.

Shayakul C, Jarolim P, Zachlederova M, Prabakaran D, Cortez-Campeao D, Kalabova D, Stuart-Tilley AK, Ideguchi H, Haller C, Alper SL.

Nephrol Dial Transplant. 2004 Feb;19(2):371-9.

20.

Homozygous and compound heterozygous mutations in the ATP6V1B1 gene in patients with renal tubular acidosis and sensorineural hearing loss.

Mohebbi N, Vargas-Poussou R, Hegemann SC, Schuknecht B, Kistler AD, W├╝thrich RP, Wagner CA.

Clin Genet. 2013 Mar;83(3):274-8. doi: 10.1111/j.1399-0004.2012.01891.x. Epub 2012 May 11.

PMID:
22509993
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