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Journal Abstract Search

204 related items for PubMed ID: 1542674

  • 1. Molecular basis of human carbonic anhydrase II deficiency.
    Roth DE, Venta PJ, Tashian RE, Sly WS.
    Proc Natl Acad Sci U S A; 1992 Mar 01; 89(5):1804-8. PubMed ID: 1542674
    [Abstract] [Full Text] [Related]

  • 2. Carbonic anhydrase II deficiency: single-base deletion in exon 7 is the predominant mutation in Caribbean Hispanic patients.
    Hu PY, Ernst AR, Sly WS, Venta PJ, Skaggs LA, Tashian RE.
    Am J Hum Genet; 1994 Apr 01; 54(4):602-8. PubMed ID: 8128957
    [Abstract] [Full Text] [Related]

  • 3. A splice junction mutation in intron 2 of the carbonic anhydrase II gene of osteopetrosis patients from Arabic countries.
    Hu PY, Roth DE, Skaggs LA, Venta PJ, Tashian RE, Guibaud P, Sly WS.
    Hum Mutat; 1992 Apr 01; 1(4):288-92. PubMed ID: 1301935
    [Abstract] [Full Text] [Related]

  • 4. 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]

  • 5. Carbonic anhydrase II deficiency identified as the primary defect in the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification.
    Sly WS, Hewett-Emmett D, Whyte MP, Yu YS, Tashian RE.
    Proc Natl Acad Sci U S A; 1983 May 18; 80(9):2752-6. PubMed ID: 6405388
    [Abstract] [Full Text] [Related]

  • 6. 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 18; 30(4):989-97. PubMed ID: 25720518
    [Abstract] [Full Text] [Related]

  • 7. A unique mutation underlying carbonic anhydrase II deficiency syndrome in patients of Arab descent.
    Fathallah DM, Bejaoui M, Sly WS, Lakhoua R, Dellagi K.
    Hum Genet; 1994 Nov 18; 94(5):581-2. PubMed ID: 7959703
    [Abstract] [Full Text] [Related]

  • 8. Carbonic anhydrase II deficiency syndrome--clinico-pathological, biochemical and molecular studies.
    Soda H.
    Kurume Med J; 1994 Nov 18; 41(4):233-40. PubMed ID: 7700057
    [Abstract] [Full Text] [Related]

  • 9. Carbonic anhydrase II deficiency in a Japanese patient produced by a nonsense mutation (TAT-->TAG) at Tyr-40 in exon 2, (Y40X).
    Soda H, Yukizane S, Yoshida I, Aramaki S, Kato H.
    Hum Mutat; 1995 Nov 18; 5(4):348-50. PubMed ID: 7627193
    [No Abstract] [Full Text] [Related]

  • 10. Clinical and molecular heterogeneity in carbonic anhydrase II deficiency and prenatal diagnosis in an Italian family.
    Strisciuglio P, Hu PY, Lim EJ, Ciccolella J, Sly WS.
    J Pediatr; 1998 Apr 18; 132(4):717-20. PubMed ID: 9580777
    [Abstract] [Full Text] [Related]

  • 11. Carbonic anhydrase II (CA II) deficiency in Maghrebian patients: evidence for founder effect and genomic recombination at the CA II locus.
    Fathallah DM, Bejaoui M, Lepaslier D, Chater K, Sly WS, Dellagi K.
    Hum Genet; 1997 May 18; 99(5):634-7. PubMed ID: 9150731
    [Abstract] [Full Text] [Related]

  • 12. Carbonic anhydrase II deficiency syndrome in a Belgian family is caused by a point mutation at an invariant histidine residue (107 His----Tyr): complete structure of the normal human CA II gene.
    Venta PJ, Welty RJ, Johnson TM, Sly WS, Tashian RE.
    Am J Hum Genet; 1991 Nov 18; 49(5):1082-90. PubMed ID: 1928091
    [Abstract] [Full Text] [Related]

  • 13. Transfusion of carbonic anhydrase-replete erythrocytes fails to correct the acidification defect in the syndrome of osteopetrosis, renal tubular acidosis, and cerebral calcification (carbonic anhydrase-II deficiency).
    Whyte MP, Hamm LL, Sly WS.
    J Bone Miner Res; 1988 Aug 18; 3(4):385-8. PubMed ID: 3146897
    [Abstract] [Full Text] [Related]

  • 14. Kinetic analysis of a mutant (His107-->Tyr) responsible for human carbonic anhydrase II deficiency syndrome.
    Tu C, Couton JM, Van Heeke G, Richards NG, Silverman DN.
    J Biol Chem; 1993 Mar 05; 268(7):4775-9. PubMed ID: 8444854
    [Abstract] [Full Text] [Related]

  • 15. Carbonic anhydrase II deficiency: diagnosis and carrier detection using differential enzyme inhibition and inactivation.
    Sundaram V, Rumbolo P, Grubb J, Strisciuglio P, Sly WS.
    Am J Hum Genet; 1986 Feb 05; 38(2):125-36. PubMed ID: 3080873
    [Abstract] [Full Text] [Related]

  • 16. A point mutation in exon 3 (His 107-->Tyr) in two unrelated Japanese patients with carbonic anhydrase II deficiency with central nervous system involvement.
    Soda H, Yukizane S, Yoshida I, Koga Y, Aramaki S, Kato H.
    Hum Genet; 1996 Apr 05; 97(4):435-7. PubMed ID: 8834238
    [Abstract] [Full Text] [Related]

  • 17. Carbonic anhydrase II deficiency.
    Whyte MP.
    Bone; 2023 Apr 05; 169():116684. PubMed ID: 36709914
    [Abstract] [Full Text] [Related]

  • 18. 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 05; 24(3):272. PubMed ID: 15300855
    [Abstract] [Full Text] [Related]

  • 19. Carbonic anhydrase II deficiency syndrome: recessive osteopetrosis with renal tubular acidosis and cerebral calcification.
    Ohlsson A, Cumming WA, Paul A, Sly WS.
    Pediatrics; 1986 Mar 05; 77(3):371-81. PubMed ID: 3081869
    [Abstract] [Full Text] [Related]

  • 20. [Syndrome associating: osteopetrosis, tubular acidosis, mental retardation and cerebral calcifications due to carbonic anhydrase II deficiency. Apropos of 3 cases in the siblings].
    Bejaoui M, Kamoun A, Baraket M, Bourguiba H, Lakhoua R.
    Arch Fr Pediatr; 1991 Mar 05; 48(3):211-4. PubMed ID: 1904705
    [Abstract] [Full Text] [Related]

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