These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

129 related articles for article (PubMed ID: 9150731)

  • 1. 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; 99(5):634-7. PubMed ID: 9150731
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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; 94(5):581-2. PubMed ID: 7959703
    [TBL] [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; 1(4):288-92. PubMed ID: 1301935
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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; 132(4):717-20. PubMed ID: 9580777
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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; 313(3):139-45. PubMed ID: 3925334
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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
    [TBL] [Abstract][Full Text] [Related]  

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

  • 10. 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; 80(9):2752-6. PubMed ID: 6405388
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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; 16(6):982-90. PubMed ID: 8127074
    [TBL] [Abstract][Full Text] [Related]  

  • 12. [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; 42(2):121-8. PubMed ID: 3112731
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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; 89(5):1804-8. PubMed ID: 1542674
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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; 38(2):125-36. PubMed ID: 3080873
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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; 134(Pt 12):3502-15. PubMed ID: 22120147
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Cerebral calcification, osteopetrosis and renal tubular acidosis: is it carbonic anhydrase-II deficiency?
    Sh Ali AA; Al-Mashta SA
    Saudi J Kidney Dis Transpl; 2013 May; 24(3):561-5. PubMed ID: 23640632
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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; 3(4):385-8. PubMed ID: 3146897
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Positive renal response to intravenous acetazolamide in patients with carbonic anhydrase II deficiency.
    Sly WS; Whyte MP; Krupin T; Sundaram V
    Pediatr Res; 1985 Oct; 19(10):1033-6. PubMed ID: 3932950
    [TBL] [Abstract][Full Text] [Related]  

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

  • 20. 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; 77(3):371-81. PubMed ID: 3081869
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.