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 *

229 related articles for article (PubMed ID: 28739549)

  • 1. Mutations in the ABCG8 gene are associated with sitosterolaemia in the homozygous form and xanthelasmas in the heterozygous form.
    Bardawil T; Rebeiz A; Chaabouni M; El Halabi J; Kambris Z; Abbas O; Abou Hassan O; Hamie L; Bitar F; Ghani Kibbi A; Nemer G; Kurban M
    Eur J Dermatol; 2017 Oct; 27(5):519-523. PubMed ID: 28739549
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Timely diagnosis of sitosterolemia by next generation sequencing in two children with severe hypercholesterolemia.
    Buonuomo PS; Iughetti L; Pisciotta L; Rabacchi C; Papadia F; Bruzzi P; Tummolo A; Bartuli A; Cortese C; Bertolini S; Calandra S
    Atherosclerosis; 2017 Jul; 262():71-77. PubMed ID: 28521186
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Macrothrombocytopenia/stomatocytosis specially associated with phytosterolemia.
    Wang G; Cao L; Wang Z; Jiang M; Sun X; Bai X; Ruan C
    Clin Appl Thromb Hemost; 2012 Nov; 18(6):582-7. PubMed ID: 22297561
    [TBL] [Abstract][Full Text] [Related]  

  • 4. First case of sitosterolemia caused by double heterozygous mutations in ABCG5 and ABCG8 genes.
    Tada H; Nomura A; Yamagishi M; Kawashiri MA
    J Clin Lipidol; 2018; 12(5):1164-1168.e4. PubMed ID: 30007774
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Potential effects of NPC1L1 polymorphisms in protecting against clinical disease in a chinese family with sitosterolaemia.
    Hu M; Yuen YP; Kwok JS; Griffith JF; Tomlinson B
    J Atheroscler Thromb; 2014; 21(9):989-95. PubMed ID: 25056759
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Two novel variants of the ABCG5 gene cause xanthelasmas and macrothrombocytopenia: a brief review of hematologic abnormalities of sitosterolemia.
    Bastida JM; Benito R; Janusz K; Díez-Campelo M; Hernández-Sánchez JM; Marcellini S; Girós M; Rivera J; Lozano ML; Hortal A; Hernández-Rivas JM; González-Porras JR
    J Thromb Haemost; 2017 Sep; 15(9):1859-1866. PubMed ID: 28696550
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Family sitosterolemia: report of two cases in Colombia.
    Castellanos AA; Castillo MDC; Montoya L; Ruiz ME; Zapateiro JL; Nogueira JP
    Clin Investig Arterioscler; 2024; 36(4):229-233. PubMed ID: 38443216
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Two novel mutations in the ABCG5 gene, c.144 -1G>A and c.1523 delC, in a Mexican family with sitosterolemia.
    Colima Fausto AG; González García JR; Wong Ley Madero LE; Magaña Torres MT
    J Clin Lipidol; 2016; 10(1):204-8. PubMed ID: 26892138
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Heterozygous
    Nomura A; Emdin CA; Won HH; Peloso GM; Natarajan P; Ardissino D; Danesh J; Schunkert H; Correa A; Bown MJ; Samani NJ; Erdmann J; McPherson R; Watkins H; Saleheen D; Elosua R; Kawashiri MA; Tada H; Gupta N; Shah SH; Rader DJ; Gabriel S; Khera AV; Kathiresan S
    Circ Genom Precis Med; 2020 Oct; 13(5):417-423. PubMed ID: 32862661
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A novel mutation of ABCG5 gene in a Turkish boy with phytosterolemia presenting with macrotrombocytopenia and stomatocytosis.
    Kaya Z; Niu DM; Yorulmaz A; Tekin A; Gürsel T
    Pediatr Blood Cancer; 2014 Aug; 61(8):1457-9. PubMed ID: 24623560
    [TBL] [Abstract][Full Text] [Related]  

  • 11. [Clinical, molecular genetic analysis, and treatment of 3 children with sitosterolemia].
    Fang D; Liang LL; Qiu WJ; Fan YJ; Sun Y; Yan H; Yu YG; Gu XF
    Zhonghua Er Ke Za Zhi; 2018 Jun; 56(6):435-439. PubMed ID: 29886606
    [No Abstract]   [Full Text] [Related]  

  • 12. Two-year-old girl with tuberous xanthomas.
    Martin JM; Cuesta A; Velasco R; Herrero A; Ramon D; Monteagudo C
    J Clin Pathol; 2018 Oct; 71(10):860-862. PubMed ID: 30232214
    [No Abstract]   [Full Text] [Related]  

  • 13. Clinical utility gene card for: Sitosterolaemia.
    Hooper AJ; Bell DA; Hegele RA; Burnett JR
    Eur J Hum Genet; 2017 Apr; 25(4):. PubMed ID: 28029149
    [No Abstract]   [Full Text] [Related]  

  • 14. Sitosterolemia presenting with severe hypercholesterolemia and intertriginous xanthomas in a breastfed infant: case report and brief review.
    Park JH; Chung IH; Kim DH; Choi MH; Garg A; Yoo EG
    J Clin Endocrinol Metab; 2014 May; 99(5):1512-8. PubMed ID: 24423340
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Compound heterozygous mutations in ABCG5 or ABCG8 causing Chinese familial Sitosterolemia.
    Sun W; Zhang T; Zhang X; Wang J; Chen Y; Long Y; Zhang G; Wang Y; Chen Y; Fang T; Chen M
    J Gene Med; 2020 Aug; 22(8):e3185. PubMed ID: 32166861
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Genetic basis and hematologic manifestations of sitosterolemia in a group of Turkish patients.
    Kaya Z; Sal E; Yorulmaz A; Hsieh YP; Gülen H; Yıldırım AT; Niu DM; Tekin A
    J Clin Lipidol; 2021; 15(5):690-698. PubMed ID: 34304999
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Specific macrothrombocytopenia/hemolytic anemia associated with sitosterolemia.
    Wang Z; Cao L; Su Y; Wang G; Wang R; Yu Z; Bai X; Ruan C
    Am J Hematol; 2014 Mar; 89(3):320-4. PubMed ID: 24166850
    [TBL] [Abstract][Full Text] [Related]  

  • 18. [Sitosterolemia (phytosterolemia)].
    Lütjohann D
    Internist (Berl); 2019 Aug; 60(8):871-877. PubMed ID: 31254003
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A case of ezetimibe-effective hypercholesterolemia with a novel heterozygous variant in ABCG5.
    Nakano Y; Komiya C; Shimizu H; Mishima H; Shiba K; Tsujimoto K; Ikeda K; Kashimada K; Dateki S; Yoshiura KI; Ogawa Y; Yamada T
    Endocr J; 2020 Nov; 67(11):1099-1105. PubMed ID: 32641618
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [Clinical and gene study of three pedigrees of phytosterolemia associated with macrothrombocytopenia and hemolysis].
    Wang GF; Wang ZY; Cao LJ; Jiang MH; Sun XH; Bai X; Ruan CG
    Zhonghua Xue Ye Xue Za Zhi; 2011 May; 32(5):331-6. PubMed ID: 21729603
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.