BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

239 related articles for article (PubMed ID: 31469252)

  • 1. 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]  

  • 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. 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]  

  • 4. 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]  

  • 5. ASS1 deficiency is associated with impaired neuronal differentiation in zebrafish larvae.
    Seidl MJ; Scharre S; Posset R; Druck AC; Epp F; Okun JG; Dimitrov B; Hoffmann GF; Kölker S; Zielonka M
    Mol Genet Metab; 2024 Jan; 141(1):108097. PubMed ID: 38113552
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 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. Investigation of citrullinemia type I variants by in vitro expression studies.
    Berning C; Bieger I; Pauli S; Vermeulen T; Vogl T; Rummel T; Höhne W; Koch HG; Rolinski B; Gempel K; Häberle J
    Hum Mutat; 2008 Oct; 29(10):1222-7. PubMed ID: 18473344
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Analysis of ASS1 gene in ten unrelated middle eastern families with citrullinemia type 1 identifies rare and novel variants.
    Daou M; Souaid M; Yammine T; Khneisser I; Mansour H; Salem N; Nemr A; Awwad J; Moukarzel A; Farra C
    Mol Genet Genomic Med; 2023 Feb; 11(2):e2058. PubMed ID: 36680390
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Transient fulminant liver failure as an initial presentation in citrullinemia type I.
    Faghfoury H; Baruteau J; de Baulny HO; Häberle J; Schulze A
    Mol Genet Metab; 2011 Apr; 102(4):413-7. PubMed ID: 21227727
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Liver-directed adeno-associated virus serotype 8 gene transfer rescues a lethal murine model of citrullinemia type 1.
    Chandler RJ; Tarasenko TN; Cusmano-Ozog K; Sun Q; Sutton VR; Venditti CP; McGuire PJ
    Gene Ther; 2013 Dec; 20(12):1188-91. PubMed ID: 24131980
    [TBL] [Abstract][Full Text] [Related]  

  • 15. From genotype to phenotype: Early prediction of disease severity in argininosuccinic aciduria.
    Zielonka M; Garbade SF; Gleich F; Okun JG; Nagamani SCS; Gropman AL; Hoffmann GF; Kölker S; Posset R;
    Hum Mutat; 2020 May; 41(5):946-960. PubMed ID: 31943503
    [TBL] [Abstract][Full Text] [Related]  

  • 16. [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]  

  • 17. Two hypomorphic alleles of mouse Ass1 as a new animal model of citrullinemia type I and other hyperammonemic syndromes.
    Perez CJ; Jaubert J; Guénet JL; Barnhart KF; Ross-Inta CM; Quintanilla VC; Aubin I; Brandon JL; Otto NW; DiGiovanni J; Gimenez-Conti I; Giulivi C; Kusewitt DF; Conti CJ; Benavides F
    Am J Pathol; 2010 Oct; 177(4):1958-68. PubMed ID: 20724589
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Severity-adjusted evaluation of newborn screening on the metabolic disease course in individuals with cytosolic urea cycle disorders.
    Posset R; Kölker S; Gleich F; Okun JG; Gropman AL; Nagamani SCS; Scharre S; Probst J; Walter ME; Hoffmann GF; Garbade SF; Zielonka M;
    Mol Genet Metab; 2020 Dec; 131(4):390-397. PubMed ID: 33288448
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Improved standards for prenatal diagnosis of citrullinemia.
    Miller MJ; Soler-Alfonso CR; Grund JE; Fang P; Sun Q; Elsea SH; Sutton VR
    Mol Genet Metab; 2014 Jul; 112(3):205-9. PubMed ID: 24889030
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 12.