BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

162 related articles for article (PubMed ID: 19358837)

  • 1. Citrullinemia type I, classical variant. Identification of ASS-p~G390R (c.1168G>A) mutation in families of a limited geographic area of Argentina: a possible population cluster.
    Laróvere LE; Angaroni CJ; Antonozzi SL; Bezard MB; Shimohama M; de Kremer RD
    Clin Biochem; 2009 Jul; 42(10-11):1166-8. PubMed ID: 19358837
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. Structure of the human argininosuccinate synthetase gene and an improved system for molecular diagnostics in patients with classical and mild citrullinemia.
    Häberle J; Pauli S; Linnebank M; Kleijer WJ; Bakker HD; Wanders RJ; Harms E; Koch HG
    Hum Genet; 2002 Apr; 110(4):327-33. PubMed ID: 11941481
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. Phenotype and genotype heterogeneity in Mediterranean citrullinemia.
    Vilaseca MA; Kobayashi K; Briones P; Lambruschini N; Campistol J; Tabata A; Alomar A; Rodès M; Lluch M; Saheki T
    Mol Genet Metab; 2001 Nov; 74(3):396-8. PubMed ID: 11708871
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. Argininosuccinate synthetase deficiency: mutation analysis in 3 Thai patients.
    Wasant P; Viprakasit V; Srisomsap C; Liammongkolkul S; Ratanarak P; Sathienkijakanchai A; Svasti J
    Southeast Asian J Trop Med Public Health; 2005 May; 36(3):757-61. PubMed ID: 16124451
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Novel 67-bp insertional mutation in the ASS gene in a patient with citrullinemia.
    Hong KM; Hahn SH; Paik MK
    Hum Mutat; 2000 Jun; 15(6):585. PubMed ID: 10862106
    [No Abstract]   [Full Text] [Related]  

  • 9. 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]  

  • 10. 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]  

  • 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. 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]  

  • 13. 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]  

  • 14. 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]  

  • 15. [Genetic analysis of ASS1, ASL and SLC25A13 in citrullinemia patients].
    Wen P; Chen Z; Wang G; Liu X; Chen L; Chen S; Wan L; Cui D; Shang Y; Li C
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2014 Jun; 31(3):268-71. PubMed ID: 24927999
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Citrullinemia Type 1: Behavioral Improvement with Late Liver Transplantation.
    Janwadkar A; Shirole N; Nagral A; Bakshi R; Vasanth S; Bagde A; Yewale V; Mirza D
    Indian J Pediatr; 2019 Jul; 86(7):639-641. PubMed ID: 30848473
    [TBL] [Abstract][Full Text] [Related]  

  • 17. The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein.
    Kobayashi K; Sinasac DS; Iijima M; Boright AP; Begum L; Lee JR; Yasuda T; Ikeda S; Hirano R; Terazono H; Crackower MA; Kondo I; Tsui LC; Scherer SW; Saheki T
    Nat Genet; 1999 Jun; 22(2):159-63. PubMed ID: 10369257
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Modelling urea-cycle disorder citrullinemia type 1 with disease-specific iPSCs.
    Yoshitoshi-Uebayashi EY; Toyoda T; Yasuda K; Kotaka M; Nomoto K; Okita K; Yasuchika K; Okamoto S; Takubo N; Nishikubo T; Soga T; Uemoto S; Osafune K
    Biochem Biophys Res Commun; 2017 May; 486(3):613-619. PubMed ID: 28302489
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. 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]  

    [Next]    [New Search]
    of 9.