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 *

219 related articles for article (PubMed ID: 28981931)

  • 1. [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]  

  • 2. [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]  

  • 3. [Analysis of clinical features and SLC25A13 gene mutations in a family affected with neonatal intrahepatic cholestasis].
    Wang L; Cheng X; Yan L; Wei Y; Tang F; Dong X; Yuan Y; Xie Y
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2016 Oct; 33(5):670-3. PubMed ID: 27577219
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Identification of a Large SLC25A13 Deletion via Sophisticated Molecular Analyses Using Peripheral Blood Lymphocytes in an Infant with Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency (NICCD): A Clinical and Molecular Study.
    Zheng QQ; Zhang ZH; Zeng HS; Lin WX; Yang HW; Yin ZN; Song YZ
    Biomed Res Int; 2016; 2016():4124263. PubMed ID: 27127784
    [TBL] [Abstract][Full Text] [Related]  

  • 5. [Analysis of SLC25A13 gene mutations in five infants with neonatal intrahepatic cholestasis caused by citrin deficiency].
    Xu J; Gao M; Lyu Y; Tang Y; Wei X; Yang L; Zhang K; Liu Y; Gai Z
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2018 Feb; 35(1):34-38. PubMed ID: 29419856
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A novel mutation of the SLC25A13 gene in a Chinese patient with citrin deficiency detected by target next-generation sequencing.
    Liu G; Wei X; Chen R; Zhou H; Li X; Sun Y; Xie S; Zhu Q; Qu N; Yang G; Chu Y; Wu H; Lan Z; Wang J; Yang Y; Yi X
    Gene; 2014 Jan; 533(2):547-53. PubMed ID: 24161253
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. Different regional distribution of SLC25A13 mutations in Chinese patients with neonatal intrahepatic cholestasis.
    Chen R; Wang XH; Fu HY; Zhang SR; Abudouxikuer K; Saheki T; Wang JS
    World J Gastroenterol; 2013 Jul; 19(28):4545-51. PubMed ID: 23901231
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Screening of SLC25A13 mutation in the Thai population.
    Wongkittichote P; Sukasem C; Kikuchi A; Aekplakorn W; Jensen LT; Kure S; Wattanasirichaigoon D
    World J Gastroenterol; 2013 Nov; 19(43):7735-42. PubMed ID: 24282362
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Clinical and genetic analysis of 26 Chinese patients with neonatal intrahepatic cholestasis due to citrin deficiency.
    Lin J; Lin W; Lin Y; Peng W; Zheng Z
    Clin Chim Acta; 2024 Jan; 552():117617. PubMed ID: 37890575
    [TBL] [Abstract][Full Text] [Related]  

  • 11. [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]  

  • 12. Blood glucose and insulin and correlation of SLC25A13 mutations with biochemical changes in NICCD patients.
    Lu CT; Shi QP; Li ZJ; Li J; Feng L
    Exp Biol Med (Maywood); 2017 Jun; 242(12):1271-1278. PubMed ID: 28516797
    [TBL] [Abstract][Full Text] [Related]  

  • 13. SLC25A13 cDNA cloning analysis using peripheral blood lymphocytes facilitates the identification of a large deletion mutation: Molecular diagnosis of an infant with neonatal intrahepatic cholestasis caused by citrin deficiency.
    Zeng HS; Lin WX; Zhao ST; Zhang ZH; Yang HW; Chen FP; Song YZ; Yin ZN
    Mol Med Rep; 2016 Dec; 14(6):5189-5194. PubMed ID: 27779681
    [TBL] [Abstract][Full Text] [Related]  

  • 14. The mutation spectrum of SLC25A13 gene in citrin deficiency: identification of novel mutations in Vietnamese pediatric cohort with neonatal intrahepatic cholestasis.
    Nguyen MT; Nguyen AP; Ngo DN; Nguyen PT; Tang HS; Giang H; Lu YT; Nguyen HN; Tran MD
    J Hum Genet; 2023 May; 68(5):305-312. PubMed ID: 36599957
    [TBL] [Abstract][Full Text] [Related]  

  • 15. [SLC25A13 gene mutation analysis in a pedigree of neonatal intrahepatic cholestasis caused by citrin deficiency].
    Song YZ; Ushikai M; Sheng JS; Iijima M; Kobayashi K
    Zhonghua Er Ke Za Zhi; 2007 Jun; 45(6):408-12. PubMed ID: 17880783
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Identification of two novel mutations in the SLC25A13 gene and detection of seven mutations in 102 patients with adult-onset type II citrullinemia.
    Yasuda T; Yamaguchi N; Kobayashi K; Nishi I; Horinouchi H; Jalil MA; Li MX; Ushikai M; Iijima M; Kondo I; Saheki T
    Hum Genet; 2000 Dec; 107(6):537-45. PubMed ID: 11153906
    [TBL] [Abstract][Full Text] [Related]  

  • 17. [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]  

  • 18. 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]  

  • 19. Molecular diagnosis of pediatric patients with citrin deficiency in China: SLC25A13 mutation spectrum and the geographic distribution.
    Lin WX; Zeng HS; Zhang ZH; Mao M; Zheng QQ; Zhao ST; Cheng Y; Chen FP; Wen WR; Song YZ
    Sci Rep; 2016 Jul; 6():29732. PubMed ID: 27405544
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [Analysis of SLC25A13 gene mutations and prenatal diagnosis for 20 families affected with citrin deficiency].
    Shi S; Tang X; Shi Z; Zha Q; Cheng Y; Zhang Z; Xiao X; Yang Y; Song Y
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2018 Aug; 35(4):475-479. PubMed ID: 30098237
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.