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 *

255 related articles for article (PubMed ID: 12048688)

  • 61. Analysis of ankyrin-B gene mutations in patients with long QT syndrome.
    Zhou X; Shimizu M; Konno T; Ino H; Fujino N; Uchiyama K; Mabuchi T; Kaneda T; Fujita T; Masuda E; Kato H; Funada A; Mabuchi H
    Nan Fang Yi Ke Da Xue Xue Bao; 2006 Jul; 26(7):901-3, 909. PubMed ID: 16864073
    [TBL] [Abstract][Full Text] [Related]  

  • 62. [Studies on PANK2 gene mutations in Chinese patients with Hallervorden-Spatz syndrome].
    Zhang Y; Tang B; Guo J; Long Z; Xia K; Pan Q; Hu Z; Wu D; Tang J; Chen T; Yan X
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2005 Apr; 22(2):189-91. PubMed ID: 15793782
    [TBL] [Abstract][Full Text] [Related]  

  • 63. 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]  

  • 64. [Genetic analysis of rhodopsin and peripherin genes in patients with autosomal dominant retinitis pigmentosa (adRP) in Polish families].
    Brzeziańska E; Zdzieszyńska M; Goś R; Lewiński A
    Klin Oczna; 2004; 106(6):743-8. PubMed ID: 15787173
    [TBL] [Abstract][Full Text] [Related]  

  • 65. 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]  

  • 66. [Screening for mutations in the PAH gene in Chinese: a new splice and a novel polymorphic mutation].
    Xu L; Miao S; Liu G
    Zhonghua Yi Xue Za Zhi; 1996 Jun; 76(6):451-4. PubMed ID: 9275491
    [TBL] [Abstract][Full Text] [Related]  

  • 67. Differences in methylation patterns in the methylation boundary region of IDS gene in Hunter syndrome patients: implications for CpG hot spot mutations.
    Tomatsu S; Sukegawa K; Trandafirescu GG; Gutierrez MA; Nishioka T; Yamaguchi S; Orii T; Froissart R; Maire I; Chabas A; Cooper A; Di Natale P; Gal A; Noguchi A; Sly WS
    Eur J Hum Genet; 2006 Jul; 14(7):838-45. PubMed ID: 16617305
    [TBL] [Abstract][Full Text] [Related]  

  • 68. Identification of 9 novel IDS gene mutations in 19 unrelated Hunter syndrome (mucopolysaccharidosis Type II) patients. Mutations in brief no. 202. Online.
    Karsten SL; Voskoboeva E; Carlberg BM; Kleijer WJ; Tsnnesen T; Pettersson U; Bondeson ML
    Hum Mutat; 1998; 12(6):433. PubMed ID: 10671065
    [TBL] [Abstract][Full Text] [Related]  

  • 69. [Study of CFTR gene mutation in Chinese CUAVD patients].
    Zeng G; Mei H; Zhuang G; Li M
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2000 Aug; 17(4):241-3. PubMed ID: 10932005
    [TBL] [Abstract][Full Text] [Related]  

  • 70. Hunter syndrome: gene deletions and rearrangements.
    Froissart R; Blond JL; Maire I; Guibaud P; Hopwood JJ; Mathieu M; Bozon D
    Hum Mutat; 1993; 2(2):138-40. PubMed ID: 8318991
    [No Abstract]   [Full Text] [Related]  

  • 71. [Mutational analysis of MECP2 gene in Rett syndrome].
    Pan H; Wang Y; Meng H; Bao X; Zhang Y; Shen Y; Wu X
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2002 Aug; 19(4):276-80. PubMed ID: 12170461
    [TBL] [Abstract][Full Text] [Related]  

  • 72. [Analysis of low density lipoprotein receptor function and gene mutation in familial hypercholesterolemic patients].
    Guan X; Li M; Fan L; Chen Q
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2003 Apr; 20(2):138-42. PubMed ID: 12673584
    [TBL] [Abstract][Full Text] [Related]  

  • 73. [Detection of point mutation in p53 gene by capillary electrophoresis-PCR-SSCP analysis].
    Liu J; Jing H; Ru Q; Deng Y; Luo G; Huang Q
    Sichuan Da Xue Xue Bao Yi Xue Ban; 2003 Jul; 34(3):476-9. PubMed ID: 12910694
    [TBL] [Abstract][Full Text] [Related]  

  • 74. [Complex mutations of 1311 C-->T in exon 11 and 93 T-->C in intron 11 in G6PD gene].
    Yu GL; Jiang WY; Du CS; Lin QD; Chen LM; Tian QH; Li SG; Zeng JB
    Zhonghua Xue Ye Xue Za Zhi; 2004 Oct; 25(10):610-2. PubMed ID: 15634595
    [TBL] [Abstract][Full Text] [Related]  

  • 75. Molecular analysis of unknown beta-globin gene mutations using polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) technique and its application in Thai families with beta-thalassemias and beta-globin variants.
    Chinchang W; Viprakasit V; Pung-Amritt P; Tanphaichitr VS; Yenchitsomanus PT
    Clin Biochem; 2005 Nov; 38(11):987-96. PubMed ID: 16139831
    [TBL] [Abstract][Full Text] [Related]  

  • 76. Determination of the organisation of coding sequences within the iduronate sulphate sulphatase (IDS) gene.
    Flomen RH; Green EP; Green PM; Bentley DR; Giannelli F
    Hum Mol Genet; 1993 Jan; 2(1):5-10. PubMed ID: 8490623
    [TBL] [Abstract][Full Text] [Related]  

  • 77. [Identification of a novel splice mutation of low density lipoprotein receptor gene in a Chinese family with familial hypercholesterolemia].
    Lin J; Wang LY; Liu S; Pan XD; Du LP; Shi FR; Qin YW; Zhao Q; Guo HY
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2004 Feb; 21(1):14-8. PubMed ID: 14767901
    [TBL] [Abstract][Full Text] [Related]  

  • 78. Mutational spectrum of the iduronate-2-sulfatase (IDS) gene in 36 unrelated Russian MPS II patients.
    Karsten S; Voskoboeva E; Tishkanina S; Pettersson U; Krasnopolskaja X; Bondeson ML
    Hum Genet; 1998 Dec; 103(6):732-5. PubMed ID: 9921913
    [TBL] [Abstract][Full Text] [Related]  

  • 79. [Analysis on point mutation of the CDKN2/p16 gene in lung cancer].
    Su C; Ye Y; Wang D; Cao X; Li S; Shan X
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2002 Feb; 19(1):37-40. PubMed ID: 11836684
    [TBL] [Abstract][Full Text] [Related]  

  • 80. Iduronate-2-sulfatase gene mutations in 16 patients with mucopolysaccharidosis type II (Hunter syndrome).
    Bunge S; Steglich C; Zuther C; Beck M; Morris CP; Schwinger E; Schinzel A; Hopwood JJ; Gal A
    Hum Mol Genet; 1993 Nov; 2(11):1871-5. PubMed ID: 8281149
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 13.