BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

196 related articles for article (PubMed ID: 23099195)

  • 1. Mutation spectrum of the ASS1 gene in Korean patients with citrullinemia type I.
    Woo HI; Ki CS; Lee SY; Kim JW; Song J; Jin DK; Park WS; Lee DH; Lee YW; Park HD
    Clin Biochem; 2013 Feb; 46(3):209-13. PubMed ID: 23099195
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Citrullinemia type I is associated with a novel splicing variant, c.773 + 4A > C, in ASS1: a case report and literature review.
    Lin Y; Gao H; Lu B; Zhou S; Zheng T; Lin W; Zhu L; Jiang M; Fu Q
    BMC Med Genet; 2019 Jun; 20(1):110. PubMed ID: 31208364
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Identification of three novel mutations in fourteen patients with citrullinemia type 1.
    Kose E; Unal O; Bulbul S; Gunduz M; Häberle J; Arslan N
    Clin Biochem; 2017 Aug; 50(12):686-689. PubMed ID: 28132756
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Mutation analysis of Korean patients with citrullinemia.
    Hong KM; Shin CH; Choi YB; Song WK; Lee SD; Rhee KI; Jang P; Pak GS; Kim JK; Paik MK; Hahn SH
    Mol Cells; 2000 Aug; 10(4):465-8. PubMed ID: 10987146
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Characterization of late-onset citrullinemia 1 in a Korean patient: confirmation by argininosuccinate synthetase gene mutation analysis.
    Kim IS; Ki CS; Kim JW; Lee M; Jin DK; Lee SY
    J Biochem Mol Biol; 2006 Jul; 39(4):400-5. PubMed ID: 16889683
    [TBL] [Abstract][Full Text] [Related]  

  • 6. [Identification of a homozygous ASS1 mutation in a child with citrullinemia type Ⅰ with high-melting curve method].
    Sun J; Shen Y; Yan C; Gong X
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2018 Jun; 35(3):429-433. PubMed ID: 29896748
    [TBL] [Abstract][Full Text] [Related]  

  • 7. [ASS1 gene mutation in a neonate with citrullinemia type I].
    Xie B; Chen R; Wang J; Luo J; Li W; Chen S
    Zhonghua Er Ke Za Zhi; 2014 Oct; 52(10):788-91. PubMed ID: 25537548
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Functional analysis of novel splicing and missense mutations identified in the ASS1 gene in classical citrullinemia patients.
    Kimani JK; Wei T; Chol K; Li Y; Yu P; Ye S; Huang X; Qi M
    Clin Chim Acta; 2015 Jan; 438():323-9. PubMed ID: 25179242
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Mutations in the Human Argininosuccinate Synthetase (ASS1) Gene, Impact on Patients, Common Changes, and Structural Considerations.
    Diez-Fernandez C; Rüfenacht V; Häberle J
    Hum Mutat; 2017 May; 38(5):471-484. PubMed ID: 28111830
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Prenatal diagnosis of citrullinemia type 1: a Chinese family with a novel mutation of the ASS1 gene.
    Wu TF; Liu YP; Li XY; Wang Q; Song JQ; Yang YL
    Brain Dev; 2014 Mar; 36(3):264-7. PubMed ID: 23611581
    [TBL] [Abstract][Full Text] [Related]  

  • 11. [ASS1 mutation leading to citrullinemia I in a Chinese Han family].
    Hu P; Zhou XY; Ma DY; Sun Y; Zhang XJ; Han SP; Yu ZB; Jiang T; Chen YL; Xu Z
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2011 Dec; 28(6):630-3. PubMed ID: 22161093
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Mutations and polymorphisms in the human argininosuccinate synthetase (ASS1) gene.
    Engel K; Höhne W; Häberle J
    Hum Mutat; 2009 Mar; 30(3):300-7. PubMed ID: 19006241
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype-phenotype correlation in 38 classical citrullinemia patients.
    Gao HZ; Kobayashi K; Tabata A; Tsuge H; Iijima M; Yasuda T; Kalkanoglu HS; Dursun A; Tokatli A; Coskun T; Trefz FK; Skladal D; Mandel H; Seidel J; Kodama S; Shirane S; Ichida T; Makino S; Yoshino M; Kang JH; Mizuguchi M; Barshop BA; Fuchinoue S; Seneca S; Zeesman S; Knerr I; Rodés M; Wasant P; Yoshida I; De Meirleir L; Abdul Jalil M; Begum L; Horiuchi M; Katunuma N; Nakagawa S; Saheki T
    Hum Mutat; 2003 Jul; 22(1):24-34. PubMed ID: 12815590
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Early prediction of phenotypic severity in Citrullinemia Type 1.
    Zielonka M; Kölker S; Gleich F; Stützenberger N; Nagamani SCS; Gropman AL; Hoffmann GF; Garbade SF; Posset R;
    Ann Clin Transl Neurol; 2019 Sep; 6(9):1858-1871. PubMed ID: 31469252
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Molecular genetics of citrullinemia types I and II.
    Woo HI; Park HD; Lee YW
    Clin Chim Acta; 2014 Apr; 431():1-8. PubMed ID: 24508627
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Mild citrullinemia in Caucasians is an allelic variant of argininosuccinate synthetase deficiency (citrullinemia type 1).
    Häberle J; Pauli S; Schmidt E; Schulze-Eilfing B; Berning C; Koch HG
    Mol Genet Metab; 2003 Nov; 80(3):302-6. PubMed ID: 14680976
    [TBL] [Abstract][Full Text] [Related]  

  • 17. High prevalence of neonatal presentation in Korean patients with citrullinemia type 1, and their shared mutations.
    Lee BH; Kim YM; Heo SH; Kim GH; Choi IH; Lee BS; Kim EA; Kim KS; Jhang WK; Park SJ; Yoo HW
    Mol Genet Metab; 2013 Jan; 108(1):18-24. PubMed ID: 23246278
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Asymptomatic ASS1 carriers with high blood citrulline levels.
    Chen HA; Hsu RH; Chang KL; Huang YC; Chiang YC; Lee NC; Hwu WL; Chiu PC; Chien YH
    Mol Genet Genomic Med; 2022 Sep; 10(9):e2007. PubMed ID: 35726796
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Citrullinemia type I: molecular screening of the ASS1 gene by exonic sequencing and targeted mutation analysis.
    Marquis-Nicholson R; Glamuzina E; Prosser D; Wilson C; Love DR
    Genet Mol Res; 2010 Aug; 9(3):1483-9. PubMed ID: 20690080
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [Mutational analysis of ASS1, ASL and SLC25A13 genes in six Chinese patients with citrullinemia].
    Lin Y; Yu K; Li L; Zheng Z; Lin W; Fu Q
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2017 Oct; 34(5):676-679. PubMed ID: 28981931
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.