BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

190 related articles for article (PubMed ID: 16220698)

  • 1. [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; 83(7):409-13. PubMed ID: 16220698
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. [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; 48(3):211-4. PubMed ID: 1904705
    [TBL] [Abstract][Full Text] [Related]  

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

  • 8. 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; 27(2):115-7. PubMed ID: 15701991
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Long-term follow up of carbonic anhydrase II deficiency syndrome.
    Awad M; Al-Ashwal AA; Sakati N; Al-Abbad AA; Bin-Abbas BS
    Saudi Med J; 2002 Jan; 23(1):25-9. PubMed ID: 11938359
    [TBL] [Abstract][Full Text] [Related]  

  • 10. [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]  

  • 11. [Carbonic anhydrase II deficiency and Fanconi syndrome: Pathogenesis, pathophysiology, and therapy].
    Sanaka T
    Nihon Rinsho; 2006 Feb; 64 Suppl 2():509-12. PubMed ID: 16523944
    [No Abstract]   [Full Text] [Related]  

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

  • 13. 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]  

  • 14. Allogenic hematopoietic stem cell transplantation in an Iranian patient with osteopetrosis caused by carbonic anhydrase II deficiency: A case report.
    Shamsian BS; Momtazmanesh N; Saneifard H; Tabatabaei SMTH; Jafari M; Pour ZK; Al-Hussieni KJMR; Jamee M; Kamfar S
    Pediatr Transplant; 2024 May; 28(3):e14689. PubMed ID: 38655726
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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; 21(3):423-6. PubMed ID: 16382316
    [TBL] [Abstract][Full Text] [Related]  

  • 17. [Recessive osteopetrosis. Identification of a form of medium severity].
    Bejaoui M; Baraket M; Lakhoua R; Mezni F; Hammou Jeddi A; Kamoun A; Kharrat H; Essoussi S; Harbi A; Ben Dridi MF
    Arch Fr Pediatr; 1992; 49(7):627-31. PubMed ID: 1476480
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Towards a better understanding and new therapeutics of osteopetrosis.
    Askmyr MK; Fasth A; Richter J
    Br J Haematol; 2008 Mar; 140(6):597-609. PubMed ID: 18241253
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Phenotypic characteristics of bone in carbonic anhydrase II-deficient mice.
    Margolis DS; Szivek JA; Lai LW; Lien YH
    Calcif Tissue Int; 2008 Jan; 82(1):66-76. PubMed ID: 18175028
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Intracranial calcification in children with osteopetrosis caused by carbonic anhydrase II deficiency.
    Cumming WA; Ohlsson A
    Radiology; 1985 Nov; 157(2):325-7. PubMed ID: 2413500
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.