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 *

186 related articles for article (PubMed ID: 23232253)

  • 21. Detection of Hunter syndrome (mucopolysaccharidosis type II) in Taiwanese: biochemical and linkage studies of the iduronate-2-sulfatase gene defects in MPS II patients and carriers.
    Lin SP; Chang JH; Lee-Chen GJ; Lin DS; Lin HY; Chuang CK
    Clin Chim Acta; 2006 Jul; 369(1):29-34. PubMed ID: 16480701
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Mutational spectrum of the iduronate 2 sulfatase gene in 25 unrelated Korean Hunter syndrome patients: identification of 13 novel mutations.
    Kim CH; Hwang HZ; Song SM; Paik KH; Kwon EK; Moon KB; Yoon JH; Han CK; Jin DK
    Hum Mutat; 2003 Apr; 21(4):449-50. PubMed ID: 12655569
    [TBL] [Abstract][Full Text] [Related]  

  • 23. [Detection of a new mutation (1343-TT) in the iduronate-2-sulfatase gene from a Chinese patient with mucopolysaccharidosis type II].
    Guo YB; Du CS
    Zhonghua Er Ke Za Zhi; 2006 Feb; 44(2):110-3. PubMed ID: 16624026
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Sequence of the human iduronate 2-sulfatase (IDS) gene.
    Wilson PJ; Meaney CA; Hopwood JJ; Morris CP
    Genomics; 1993 Sep; 17(3):773-5. PubMed ID: 8244397
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Molecular investigations of a novel iduronate-2-sulfatase mutant in a Chinese patient.
    Lau KC; Lam CW
    Clin Chim Acta; 2008 Jun; 392(1-2):8-10. PubMed ID: 18331837
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Mucopolysaccharidosis type II: identification of 30 novel mutations among Latin American patients.
    Brusius-Facchin AC; Schwartz IV; Zimmer C; Ribeiro MG; Acosta AX; Horovitz D; MonlleĆ³ IL; Fontes MI; Fett-Conte A; Sobrinho RP; Duarte AR; Boy R; Mabe P; Ascurra M; de Michelena M; Tylee KL; Besley GT; Garreton MC; Giugliani R; Leistner-Segal S
    Mol Genet Metab; 2014 Feb; 111(2):133-8. PubMed ID: 24125893
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Prenatal diagnosis and carrier detection in mucopolysaccharidosis type II by mutation analysis. A 47,XXY male heterozygous for a missense point mutation.
    Bunge S; Steglich C; Lorenz P; Beck M; Xu S; Hopwood JJ; Gal A
    Prenat Diagn; 1994 Sep; 14(9):777-80. PubMed ID: 7845883
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Analysis of a 43.6 kb deletion in a patient with Hunter syndrome (MPSII): identification of a fusion transcript including sequences from the gene W and the IDS gene.
    Lagerstedt K; Carlberg BM; Karimi-Nejad R; Kleijer WJ; Bondeson ML
    Hum Mutat; 2000; 15(4):324-31. PubMed ID: 10737977
    [TBL] [Abstract][Full Text] [Related]  

  • 29. [Detection of two novel mutations of iduronate-2-sulfatase gene in patients with mucopolysaccharidosis type II].
    Dou W; Peng C; Zheng JK; Gu XF
    Yi Chuan; 2007 Jan; 29(1):37-40. PubMed ID: 17284421
    [TBL] [Abstract][Full Text] [Related]  

  • 30. DNA deletion confined to the iduronate-2-sulfatase promoter abolishes IDS gene expression.
    Timms KM; Huckett LE; Belmont JW; Shapira SK; Gibbs RA
    Hum Mutat; 1998; 11(2):121-6. PubMed ID: 9482575
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Mutations of the iduronate-2-sulfatase gene on a T146T background in three patients with Hunter syndrome.
    Li P; Huffman P; Thompson JN
    Hum Mutat; 1995; 5(3):272-4. PubMed ID: 7599640
    [No Abstract]   [Full Text] [Related]  

  • 32. Molecular analysis of iduronate -2- sulfatase gene in Tunisian patients with mucopolysaccharidosis type II.
    Chkioua L; Khedhiri S; Ferchichi S; Tcheng R; Chahed H; Froissart R; Vianey-Saban C; Laradi S; Miled A
    Diagn Pathol; 2011 May; 6():42. PubMed ID: 21605424
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Homologous nonallelic recombinations between the iduronate-sulfatase gene and pseudogene cause various intragenic deletions and inversions in patients with mucopolysaccharidosis type II.
    Bunge S; Rathmann M; Steglich C; Bondeson ML; Tylki-Szymanska A; Popowska E; Gal A
    Eur J Hum Genet; 1998; 6(5):492-500. PubMed ID: 9801874
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Further cases of "neighbor" mutations in mucopolysaccharidosis type II.
    Schwartz IV; Lima LC; Tylee K; Sobrinho RP; Norato DY; Duarte AR; Besley G; Burin MG; Matte U; Giugliani R; Leistner-Segal S
    Am J Med Genet A; 2006 Aug; 140(15):1684-6. PubMed ID: 16770800
    [No Abstract]   [Full Text] [Related]  

  • 35. Presence of an IDS-related locus (IDS2) in Xq28 complicates the mutational analysis of Hunter syndrome.
    Bondeson ML; Malmgren H; Dahl N; Carlberg BM; Pettersson U
    Eur J Hum Genet; 1995; 3(4):219-27. PubMed ID: 8528670
    [TBL] [Abstract][Full Text] [Related]  

  • 36. [The detection of the frequent mutations of iduronate-2-sulphatase gene in mucopolysaccharidosis type II patients in Chinese].
    Liu S; Li L; Fu J; Zhong C; Lu G
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2002 Jun; 19(3):243-5. PubMed ID: 12048688
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Deletion of the Hunter gene and both DXS466 and DXS304 in a patient with mucopolysaccharidosis type II.
    Beck M; Steglich C; Zabel B; Dahl N; Schwinger E; Hopwood JJ; Gal A
    Am J Med Genet; 1992 Sep; 44(1):100-3. PubMed ID: 1355630
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Molecular basis of mucopolysaccharidosis type II: mutations in the iduronate-2-sulphatase gene.
    Hopwood JJ; Bunge S; Morris CP; Wilson PJ; Steglich C; Beck M; Schwinger E; Gal A
    Hum Mutat; 1993; 2(6):435-42. PubMed ID: 8111411
    [TBL] [Abstract][Full Text] [Related]  

  • 39. IDS gene-pseudogene exchange responsible for an intragenic deletion in a Hunter patient.
    Birot AM; Bouton O; Froissart R; Maire I; Bozon D
    Hum Mutat; 1996; 8(1):44-50. PubMed ID: 8807335
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Evidence for an iduronate-sulfatase pseudogene near the functional Hunter syndrome gene in Xq27.3-q28.
    Rathmann M; Bunge S; Steglich C; Schwinger E; Gal A
    Hum Genet; 1995 Jan; 95(1):34-8. PubMed ID: 7814022
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 10.