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Journal Abstract Search

370 related items for PubMed ID: 12566520

  • 1. 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. PubMed ID: 12566520
    [Abstract] [Full Text] [Related]

  • 2. Identification of a novel mutation in an Indian patient with CAII deficiency syndrome.
    Shivaprasad C, Paliwal P, Khadgawat R, Sharma A.
    J Postgrad Med; 2010 Feb; 56(4):290-2. PubMed ID: 20935402
    [Abstract] [Full Text] [Related]

  • 3. Two novel CAII mutations causing carbonic anhydrase II deficiency syndrome in two unrelated Chinese families.
    Pang Q, Qi X, Jiang Y, Wang O, Li M, Xing X, Dong J, Xia W.
    Metab Brain Dis; 2015 Aug; 30(4):989-97. PubMed ID: 25720518
    [Abstract] [Full Text] [Related]

  • 4. Genetic causes and mechanisms of distal renal tubular acidosis.
    Batlle D, Haque SK.
    Nephrol Dial Transplant; 2012 Oct; 27(10):3691-704. PubMed ID: 23114896
    [Abstract] [Full Text] [Related]

  • 5. Bone marrow transplantation corrects osteopetrosis in the carbonic anhydrase II deficiency syndrome.
    McMahon C, Will A, Hu P, Shah GN, Sly WS, Smith OP.
    Blood; 2001 Apr 01; 97(7):1947-50. PubMed ID: 11264157
    [Abstract] [Full Text] [Related]

  • 6. Carbonic anhydrase II deficiency syndrome (osteopetrosis with renal tubular acidosis and brain calcification): novel mutations in CA2 identified by direct sequencing expand the opportunity for genotype-phenotype correlation.
    Shah GN, Bonapace G, Hu PY, Strisciuglio P, Sly WS.
    Hum Mutat; 2004 Sep 01; 24(3):272. PubMed ID: 15300855
    [Abstract] [Full Text] [Related]

  • 7. 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 01; 26(1):71-5. PubMed ID: 10973252
    [Abstract] [Full Text] [Related]

  • 8. Carbonic anhydrase II deficiency in 12 families with the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification.
    Sly WS, Whyte MP, Sundaram V, Tashian RE, Hewett-Emmett D, Guibaud P, Vainsel M, Baluarte HJ, Gruskin A, Al-Mosawi M.
    N Engl J Med; 1985 Jul 18; 313(3):139-45. PubMed ID: 3925334
    [Abstract] [Full Text] [Related]

  • 9. Carbonic anhydrase II deficiency.
    Whyte MP.
    Bone; 2023 Apr 18; 169():116684. PubMed ID: 36709914
    [Abstract] [Full Text] [Related]

  • 10. The neurology of carbonic anhydrase type II deficiency syndrome.
    Bosley TM, Salih MA, Alorainy IA, Islam MZ, Oystreck DT, Suliman OS, al Malki S, Suhaibani AH, Khiari H, Beckers S, van Wesenbeeck L, Perdu B, AlDrees A, Elmalik SA, Van Hul W, Abu-Amero KK.
    Brain; 2011 Dec 18; 134(Pt 12):3502-15. PubMed ID: 22120147
    [Abstract] [Full Text] [Related]

  • 11. 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 18; 39(11):796-803. PubMed ID: 12414817
    [Abstract] [Full Text] [Related]

  • 12. Clinical and molecular findings in a family with the carbonic anhydrase II deficiency syndrome.
    Lotan D, Eisenkraft A, Jacobsson JM, Bar-Yosef O, Kleta R, Gal N, Raviv-Zilka L, Gore H, Anikster Y.
    Pediatr Nephrol; 2006 Mar 18; 21(3):423-6. PubMed ID: 16382316
    [Abstract] [Full Text] [Related]

  • 13. Autosomal dominant osteopetrosis associated with renal tubular acidosis is due to a CLCN7 mutation.
    Piret SE, Gorvin CM, Trinh A, Taylor J, Lise S, Taylor JC, Ebeling PR, Thakker RV.
    Am J Med Genet A; 2016 Nov 18; 170(11):2988-2992. PubMed ID: 27540713
    [Abstract] [Full Text] [Related]

  • 14. 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, Wüthrich RP, Wagner CA.
    Clin Genet; 2013 Mar 18; 83(3):274-8. PubMed ID: 22509993
    [Abstract] [Full Text] [Related]

  • 15. Evaluation of carbonic anhydrase isozymes in disorders involving osteopetrosis and/or renal tubular acidosis.
    Sly WS, Sato S, Zhu XL.
    Clin Biochem; 1991 Aug 18; 24(4):311-8. PubMed ID: 1959222
    [Abstract] [Full Text] [Related]

  • 16. Identification and in silico characterization of a novel p.P208PfsX1 mutation in V-ATPase a3 subunit associated with autosomal recessive osteopetrosis in a Pakistani family.
    Ajmal M, Mir A, Wahid S, Khor CC, Foo JN, Siddiqi S, Kauser M, Malik SA, Nasir M.
    BMC Med Genet; 2017 Dec 13; 18(1):148. PubMed ID: 29237407
    [Abstract] [Full Text] [Related]

  • 17. Clinical and molecular findings in three Moroccan families with distal renal tubular acidosis and deafness: Report of a novel mutation of ATP6V1B1 gene.
    Boualla L, Jdioui W, Soulami K, Ratbi I, Sefiani A.
    Curr Res Transl Med; 2016 Dec 13; 64(1):5-8. PubMed ID: 27140593
    [Abstract] [Full Text] [Related]

  • 18. Carbonic anhydrase II deficiency: a rare autosomal recessive disorder of osteopetrosis, renal tubular acidosis, and cerebral calcification.
    Cotter M, Connell T, Colhoun E, Smith OP, McMahon C.
    J Pediatr Hematol Oncol; 2005 Feb 13; 27(2):115-7. PubMed ID: 15701991
    [Abstract] [Full Text] [Related]

  • 19. Molecular cloning and characterization of novel tissue-specific isoforms of the human vacuolar H(+)-ATPase C, G and d subunits, and their evaluation in autosomal recessive distal renal tubular acidosis.
    Smith AN, Borthwick KJ, Karet FE.
    Gene; 2002 Sep 04; 297(1-2):169-77. PubMed ID: 12384298
    [Abstract] [Full Text] [Related]

  • 20. Carbonic anhydrase II deficiency in three unrelated Japanese patients.
    Aramaki S, Yoshida I, Yoshino M, Kondo M, Sato Y, Noda K, Jo R, Okue A, Sai N, Yamashita F.
    J Inherit Metab Dis; 1993 Sep 04; 16(6):982-90. PubMed ID: 8127074
    [Abstract] [Full Text] [Related]

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