236 related articles for article (PubMed ID: 10671065)
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. Identification of 11 novel mutations in 49 Korean patients with mucopolysaccharidosis type II.
Sohn YB; Ki CS; Kim CH; Ko AR; Yook YJ; Lee SJ; Kim SJ; Park SW; Yeau S; Kwon EK; Han SJ; Choi EW; Lee SY; Kim JW; Jin DK
Clin Genet; 2012 Feb; 81(2):185-90. PubMed ID: 21291454
[TBL] [Abstract][Full Text] [Related]
23. Case report: a rare case of Hunter syndrome (type II mucopolysaccharidosis) in a girl.
Semyachkina AN; Voskoboeva EY; Zakharova EY; Nikolaeva EA; Kanivets IV; Kolotii AD; Baydakova GV; Kharabadze MN; Kuramagomedova RG; Melnikova NV
BMC Med Genet; 2019 May; 20(1):66. PubMed ID: 31046699
[TBL] [Abstract][Full Text] [Related]
24. 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]
25. A novel iduronate 2-sulfatase mutation in a Chinese family with mucopolysaccharidosis type II.
Li XY; Shi XY; Ju J; Hu XH; Yang XF; Zou LP
World J Pediatr; 2012 Aug; 8(3):281-3. PubMed ID: 22622771
[TBL] [Abstract][Full Text] [Related]
26. Molecular diagnosis of 65 families with mucopolysaccharidosis type II (Hunter syndrome) characterized by 16 novel mutations in the IDS gene: Genetic, pathological, and structural studies on iduronate-2-sulfatase.
Kosuga M; Mashima R; Hirakiyama A; Fuji N; Kumagai T; Seo JH; Nikaido M; Saito S; Ohno K; Sakuraba H; Okuyama T
Mol Genet Metab; 2016 Jul; 118(3):190-197. PubMed ID: 27246110
[TBL] [Abstract][Full Text] [Related]
27. 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; Monlleó 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]
28. Frequent deletions at Xq28 indicate genetic heterogeneity in Hunter syndrome.
Wilson PJ; Suthers GK; Callen DF; Baker E; Nelson PV; Cooper A; Wraith JE; Sutherland GR; Morris CP; Hopwood JJ
Hum Genet; 1991 Mar; 86(5):505-8. PubMed ID: 1901826
[TBL] [Abstract][Full Text] [Related]
29. Mucopolysaccharidosis type II (Hunter syndrome): mutation "hot spots" in the iduronate-2-sulfatase gene.
Rathmann M; Bunge S; Beck M; Kresse H; Tylki-Szymanska A; Gal A
Am J Hum Genet; 1996 Dec; 59(6):1202-9. PubMed ID: 8940265
[TBL] [Abstract][Full Text] [Related]
30. 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]
31. Mutations in the iduronate-2-sulfatase gene in five Norwegians with Hunter syndrome.
Olsen TC; Eiken HG; Knappskog PM; Kase BF; Månsson JE; Boman H; Apold J
Hum Genet; 1996 Feb; 97(2):198-203. PubMed ID: 8566953
[TBL] [Abstract][Full Text] [Related]
32. Mucopolysaccharidosis type II in a female patient with a reciprocal X;9 translocation and skewed X chromosome inactivation.
Lonardo F; Di Natale P; Lualdi S; Acquaviva F; Cuoco C; Scarano F; Maioli M; Pavone LM; Di Gregorio G; Filocamo M; Scarano G
Am J Med Genet A; 2014 Oct; 164A(10):2627-32. PubMed ID: 25044788
[TBL] [Abstract][Full Text] [Related]
33. A 38.8 kb deletion mutation of the iduronate-2-sulfatase gene in a patient with Hunter syndrome.
Chou YY; Chao SC; Kuo PL; Lin SJ
J Formos Med Assoc; 2005 Apr; 104(4):273-5. PubMed ID: 15909065
[TBL] [Abstract][Full Text] [Related]
34. 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]
35. 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]
36. Endoplasmic Reticulum and Lysosomal Quality Control of Four Nonsense Mutants of Iduronate 2-Sulfatase Linked to Hunter's Syndrome.
Marazza A; Galli C; Fasana E; Sgrignani J; Burda P; Fassi EMA; Baumgartner M; Cavalli A; Molinari M
DNA Cell Biol; 2020 Feb; 39(2):226-234. PubMed ID: 31895584
[TBL] [Abstract][Full Text] [Related]
37. Hunter syndrome: isolation of an iduronate-2-sulfatase cDNA clone and analysis of patient DNA.
Wilson PJ; Morris CP; Anson DS; Occhiodoro T; Bielicki J; Clements PR; Hopwood JJ
Proc Natl Acad Sci U S A; 1990 Nov; 87(21):8531-5. PubMed ID: 2122463
[TBL] [Abstract][Full Text] [Related]
38. Mucopolysaccharidosis type II in females and response to enzyme replacement therapy.
Jurecka A; Krumina Z; Żuber Z; Różdżyńska-Świątkowska A; Kłoska A; Czartoryska B; Tylki-Szymańska A
Am J Med Genet A; 2012 Feb; 158A(2):450-4. PubMed ID: 22246721
[TBL] [Abstract][Full Text] [Related]
39. Identification and Functional Characterization of
Lin HY; Tu RY; Chern SR; Lo YT; Fran S; Wei FJ; Huang SF; Tsai SY; Chang YH; Lee CL; Lin SP; Chuang CK
Int J Mol Sci; 2019 Dec; 21(1):. PubMed ID: 31877959
[TBL] [Abstract][Full Text] [Related]
40. [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]
[Previous] [Next] [New Search]