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Journal Abstract Search

147 related items for PubMed ID: 1301935

  • 1. 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; 1(4):288-92. PubMed ID: 1301935
    [Abstract] [Full Text] [Related]

  • 2. 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; 24(3):272. PubMed ID: 15300855
    [Abstract] [Full Text] [Related]

  • 3. 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; 54(4):602-8. PubMed ID: 8128957
    [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. [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 18; 48(3):211-4. PubMed ID: 1904705
    [Abstract] [Full Text] [Related]

  • 6. [Carbonic anhydrase II deficiency: osteopetrosis, renal tubular acidosis and intracranial calcifications. Review of the literature and 3 cases].
    Cochat P, Loras-Duclaux I, Guibaud P.
    Pediatrie; 1987 Mar 18; 42(2):121-8. PubMed ID: 3112731
    [Abstract] [Full Text] [Related]

  • 7. 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]

  • 8. 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]

  • 9. [Osteopetrosis with carbonic anhydrase II deficiency: report of 24 cases].
    Sonia HL, Mohamed F, Mohamed B, Rafika A, Dehmani F, Kossay D, Azza H.
    Tunis Med; 2005 Jul 18; 83(7):409-13. PubMed ID: 16220698
    [Abstract] [Full Text] [Related]

  • 10. 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]

  • 11. Carbonic anhydrase II deficiency a novel mutation.
    Nampoothiri S, Anikster Y.
    Indian Pediatr; 2009 Jun 18; 46(6):532-4. PubMed ID: 19556665
    [Abstract] [Full Text] [Related]

  • 12. 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 18; 77(3):371-81. PubMed ID: 3081869
    [Abstract] [Full Text] [Related]

  • 13. Familial pure proximal renal tubular acidosis--a clinical and genetic study.
    Katzir Z, Dinour D, Reznik-Wolf H, Nissenkorn A, Holtzman E.
    Nephrol Dial Transplant; 2008 Apr 18; 23(4):1211-5. PubMed ID: 17881426
    [Abstract] [Full Text] [Related]

  • 14. 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]

  • 15. 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]

  • 16. 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 01; 80(9):2752-6. PubMed ID: 6405388
    [Abstract] [Full Text] [Related]

  • 17. 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 May 01; 5(4):348-50. PubMed ID: 7627193
    [No Abstract] [Full Text] [Related]

  • 18. [Osteopetrosis and renal acidosis: a new case of this rare syndrome].
    Ruffa G, Milanaccio C, Sbolgi P, Levato GL, Bartocci M, Galasso V, Bruschettini PL.
    Minerva Pediatr; 1995 Apr 01; 47(4):135-40. PubMed ID: 7643812
    [Abstract] [Full Text] [Related]

  • 19. 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 01; 30(4):989-97. PubMed ID: 25720518
    [Abstract] [Full Text] [Related]

  • 20. Evaluation of carbonic anhydrase isozymes in disorders involving osteopetrosis and/or renal tubular acidosis.
    Sly WS, Sato S, Zhu XL.
    Clin Biochem; 1991 Aug 01; 24(4):311-8. PubMed ID: 1959222
    [Abstract] [Full Text] [Related]

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