BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

257 related articles for article (PubMed ID: 33889180)

  • 1.
    Ren Y; Shen Y; Si N; Fan S; Zhang Y; Xu W; Shi L; Zhang X
    Front Genet; 2021; 12():639935. PubMed ID: 33889180
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Case Report: Two Novel Frameshift Mutations in
    Shen Y; Shu S; Ren Y; Xia W; Chen J; Dong L; Ge H; Fan S; Shi L; Peng B; Zhang X
    Front Genet; 2021; 12():643452. PubMed ID: 34025715
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Mice Knocked Out for the Primary Brain Calcification-Associated Gene Slc20a2 Show Unimpaired Prenatal Survival but Retarded Growth and Nodules in the Brain that Grow and Calcify Over Time.
    Jensen N; Schrøder HD; Hejbøl EK; Thomsen JS; Brüel A; Larsen FT; Vinding MC; Orlowski D; Füchtbauer EM; Oliveira JRM; Pedersen L
    Am J Pathol; 2018 Aug; 188(8):1865-1881. PubMed ID: 29803831
    [TBL] [Abstract][Full Text] [Related]  

  • 4. An update on primary familial brain calcification.
    Lemos RR; Ferreira JB; Keasey MP; Oliveira JR
    Int Rev Neurobiol; 2013; 110():349-71. PubMed ID: 24209445
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A new SLC20A2 mutation identified in southern Italy family with primary familial brain calcification.
    Gagliardi M; Morelli M; Annesi G; Nicoletti G; Perrotta P; Pustorino G; Iannello G; Tarantino P; Gambardella A; Quattrone A
    Gene; 2015 Aug; 568(1):109-11. PubMed ID: 25958344
    [TBL] [Abstract][Full Text] [Related]  

  • 6. The Genetics of Primary Familial Brain Calcification: A Literature Review.
    Chen SY; Ho CJ; Lu YT; Lin CH; Lan MY; Tsai MH
    Int J Mol Sci; 2023 Jun; 24(13):. PubMed ID: 37446066
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Lack of Major Ophthalmic Findings in Patients with Primary Familial Brain Calcification Linked to SLC20A2 and PDGFB.
    Borges-Medeiros RL; Ferreira LD; de Oliveira JRM
    J Mol Neurosci; 2019 Mar; 67(3):441-444. PubMed ID: 30607898
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Biallelic MYORG mutation carriers exhibit primary brain calcification with a distinct phenotype.
    Grangeon L; Wallon D; Charbonnier C; Quenez O; Richard AC; Rousseau S; Budowski C; Lebouvier T; Corbille AG; Vidailhet M; Méneret A; Roze E; Anheim M; Tranchant C; Favrole P; Antoine JC; Defebvre L; Ayrignac X; Labauge P; Pariente J; Clanet M; Maltête D; Rovelet-Lecrux A; Boland A; Deleuze JF; ; Frebourg T; Hannequin D; Campion D; Nicolas G
    Brain; 2019 Jun; 142(6):1573-1586. PubMed ID: 31009047
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Update and Mutational Analysis of SLC20A2: A Major Cause of Primary Familial Brain Calcification.
    Lemos RR; Ramos EM; Legati A; Nicolas G; Jenkinson EM; Livingston JH; Crow YJ; Campion D; Coppola G; Oliveira JR
    Hum Mutat; 2015 May; 36(5):489-95. PubMed ID: 25726928
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Haploinsufficiency of the Primary Familial Brain Calcification Gene SLC20A2 Mediated by Disruption of a Regulatory Element.
    Cassinari K; Rovelet-Lecrux A; Tury S; Quenez O; Richard AC; Charbonnier C; Olaso R; Boland A; Deleuze JF; Besancenot JF; Delpont B; Pouliquen D; Lecoquierre F; Chambon P; Thauvin-Robinet C; Campion D; Frebourg T; Battini JL; Nicolas G
    Mov Disord; 2020 Aug; 35(8):1336-1345. PubMed ID: 32506582
    [TBL] [Abstract][Full Text] [Related]  

  • 11. SLC20A2-Associated Idiopathic basal ganglia calcification (Fahr disease): a case family report.
    Li M; Fu Q; Xiang L; Zheng Y; Ping W; Cao Y
    BMC Neurol; 2022 Nov; 22(1):438. PubMed ID: 36397039
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Digenic Variants as Possible Clinical Modifier of Primary Familial Brain Calcification Patients.
    Borges-Medeiros RL; de Oliveira JRM
    J Mol Neurosci; 2020 Jan; 70(1):142-144. PubMed ID: 31768941
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A splice site mutation causing exon 6 skipping in SLC20A2 gene in a primary familial brain calcification family.
    Huang YT; Zhang LH; Li MF; Cheng L; Zou GY; Zhou HH
    Brain Res Bull; 2019 Aug; 150():261-265. PubMed ID: 30634018
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Generalized epilepsy in a family with basal ganglia calcifications and mutations in SLC20A2 and CHRNB2.
    Fjaer R; Brodtkorb E; Øye AM; Sheng Y; Vigeland MD; Kvistad KA; Backe PH; Selmer KK
    Eur J Med Genet; 2015 Nov; 58(11):624-8. PubMed ID: 26475232
    [TBL] [Abstract][Full Text] [Related]  

  • 15. T-cell infiltration in the central nervous system and their association with brain calcification in
    Zhang Y; Ren Y; Zhang Y; Li Y; Xu C; Peng Z; Jia Y; Qiao S; Zhang Z; Shi L
    Front Mol Neurosci; 2023; 16():1073723. PubMed ID: 36741925
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Primary familial brain calcification in a patient with a novel compound heterozygous mutation in
    Yang Q; Li J; Jiao B; Weng L
    Ann Transl Med; 2022 Apr; 10(7):423. PubMed ID: 35530931
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Astrocyte-microglial association and matrix composition are common events in the natural history of primary familial brain calcification.
    Nahar K; Lebouvier T; Andaloussi Mäe M; Konzer A; Bergquist J; Zarb Y; Johansson B; Betsholtz C; Vanlandewijck M
    Brain Pathol; 2020 May; 30(3):446-464. PubMed ID: 31561281
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Primary familial brain calcification with a novel SLC20A2 mutation: Analysis of PiT-2 expression and localization.
    Taglia I; Formichi P; Battisti C; Peppoloni G; Barghigiani M; Tessa A; Federico A
    J Cell Physiol; 2018 Mar; 233(3):2324-2331. PubMed ID: 28722801
    [TBL] [Abstract][Full Text] [Related]  

  • 19. SLC20A2-related primary familial brain calcification with purely acute psychiatric symptoms: a case report.
    Bu W; Hou L; Zhu M; Zhang R; Zhang X; Zhang X; Tang J; Liu X
    BMC Neurol; 2022 Jul; 22(1):265. PubMed ID: 35850697
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Severe brain calcification and migraine headache caused by SLC20A2 and PDGFRB heterozygous mutations in a five-year-old Chinese girl.
    Sun H; Cao Z; Gao R; Li Y; Chen R; Du S; Ma T; Wang J; Xu X; Liu JY
    Mol Genet Genomic Med; 2021 May; 9(5):e1670. PubMed ID: 33793087
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 13.