105 related articles for article (PubMed ID: 25169630)
1. [Mutation analysis of mucopolysaccharidosis type II and prenatal diagnosis].
Liu N; Shi H; Kong X; Wu Q; Jiang M
Zhonghua Fu Chan Ke Za Zhi; 2014 Jun; 49(6):410-3. PubMed ID: 25169630
[TBL] [Abstract][Full Text] [Related]
2. [Analysis of IDS gene mutation in a family affected with mucopolysaccharidosis typeⅡ].
Li Y; Mei S; Kong X; Zhao Z; Zhu X; Yang X; Qin Z; Wu H
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2017 Feb; 34(1):58-60. PubMed ID: 28186595
[TBL] [Abstract][Full Text] [Related]
3. [Prenatal diagnosis of mucopolysaccharidosis type II].
Zhang XS; Zhang HW; Gu XF
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2011 Oct; 28(5):536-8. PubMed ID: 21983729
[TBL] [Abstract][Full Text] [Related]
4. [Molecular analysis of IDS gene and prenatal diagnosis in a Chinese family with mucopolysaccharidosis type II].
Jia B; Xue JJ; Liang DS; Wu LQ
Zhonghua Er Ke Za Zhi; 2009 Feb; 47(2):109-13. PubMed ID: 19573456
[TBL] [Abstract][Full Text] [Related]
5. [Postnatal and prenatal diagnosis of mucopolysaccharidosis type II (Hunter syndrome)].
Zhang WM; Shi HP; Li BT; Zhao SM; Qi QW; Sun NH; Huang SZ
Zhonghua Er Ke Za Zhi; 2006 Sep; 44(9):644-7. PubMed ID: 17217652
[TBL] [Abstract][Full Text] [Related]
6. Wide allelic heterogeneity with predominance of large IDS gene complex rearrangements in a sample of Mexican patients with Hunter syndrome.
Alcántara-Ortigoza MA; García-de Teresa B; González-Del Angel A; Berumen J; Guardado-Estrada M; Fernández-Hernández L; Navarrete-Martínez JI; Maza-Morales M; Rius-Domínguez R
Clin Genet; 2016 May; 89(5):574-83. PubMed ID: 26762690
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. [Genetic analysis and prenatal diagnosis of a Chinese pedigree affected with mucopolysaccharidosis type II due to deletion of exon 2 of IDS gene].
Zhao G; Chen C; Zhao X; Liu L; Wang C; Kong X
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Aug; 39(8):864-867. PubMed ID: 35929937
[TBL] [Abstract][Full Text] [Related]
9. [Identification of a novel mutation of IDS gene from a Chinese pedigree with MPS II].
GUO YB; PAN HD; GUO CM; LI YM; CHEN LM
Yi Chuan; 2009 Nov; 31(11):1101-6. PubMed ID: 19933090
[TBL] [Abstract][Full Text] [Related]
10. Prenatal diagnosis of a lethal form of Netherton syndrome by SPINK5 mutation analysis.
Bitoun E; Bodemer C; Amiel J; de Prost Y; Stoll C; Calvas P; Hovnanian A
Prenat Diagn; 2002 Feb; 22(2):121-6. PubMed ID: 11857617
[TBL] [Abstract][Full Text] [Related]
11. A 3' splice site mutation of IDS gene in a Chinese family with mucopolysaccharidosis type II.
Jin P; Hao JW; Chen K; Dong CS; Yang YB; Mo ZH
Gene; 2013 Oct; 528(2):236-40. PubMed ID: 23867855
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. Mutations of the iduronate-2-sulfatase (IDS) gene in patients with Hunter syndrome (mucopolysaccharidosis II).
Schröder W; Wulff K; Wehnert M; Seidlitz G; Herrmann FH
Hum Mutat; 1994; 4(2):128-31. PubMed ID: 7981716
[TBL] [Abstract][Full Text] [Related]
14. Mutation analyses and prenatal diagnosis in families of X-linked severe combined immunodeficiency caused by IL2Rγ gene novel mutation.
Bai QL; Liu N; Kong XD; Xu XJ; Zhao ZH
Genet Mol Res; 2015 Jun; 14(2):6164-72. PubMed ID: 26125817
[TBL] [Abstract][Full Text] [Related]
15. Molecular genetic characterization and prenatal diagnosis in a family with Hunter disease.
Grosso M; Balzano N; Rippa E; Villani GR; Salvatore F; Izzo P; di Natale P
Biochem Mol Biol Int; 1995 May; 35(6):1261-7. PubMed ID: 7492964
[TBL] [Abstract][Full Text] [Related]
16. Molecular analysis of 40 Italian patients with mucopolysaccharidosis type II: New mutations in the iduronate-2-sulfatase (IDS) gene.
Filocamo M; Bonuccelli G; Corsolini F; Mazzotti R; Cusano R; Gatti R
Hum Mutat; 2001 Aug; 18(2):164-5. PubMed ID: 11462244
[TBL] [Abstract][Full Text] [Related]
17. [Clinical value of MLPA in the prenatal gene diagnosis of Duchenne muscular dystrophy].
Li Q; Li SY; Zhang HM; He WZ; Ma XY; Wang XM; Xian JJ; Sun XF; Chen DJ; Yu YH
Zhonghua Fu Chan Ke Za Zhi; 2013 Mar; 48(3):161-4. PubMed ID: 23849935
[TBL] [Abstract][Full Text] [Related]
18. [IDUA gene mutation analysis and prenatal diagnosis of two families affected with mucopolysaccharidosis type I].
Yang X; Mei S; Kong X; Zhao Z; Cai A; Yao J; Li Y; Qin Z
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2017 Jun; 34(3):347-351. PubMed ID: 28604952
[TBL] [Abstract][Full Text] [Related]
19. Mucopolysaccharidosis type II in a female carrying a heterozygous stop mutation of the iduronate-2-sulfatase gene and showing a skewed X chromosome inactivation.
Piña-Aguilar RE; Zaragoza-Arévalo GR; Rau I; Gal A; Alcántara-Ortigoza MA; López-Martínez MS; Santillán-Hernández Y
Eur J Med Genet; 2013 Mar; 56(3):159-62. PubMed ID: 23232253
[TBL] [Abstract][Full Text] [Related]
20. First-trimester diagnosis of Hunter syndrome: very low iduronate sulphatase activity in chorionic villi from a heterozygous female fetus.
Cooper A; Thornley M; Wraith JE
Prenat Diagn; 1991 Sep; 11(9):731-5. PubMed ID: 1820774
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]