BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

153 related articles for article (PubMed ID: 37420094)

  • 21. Identification of SLC20A2 deletions in patients with primary familial brain calcification.
    Guo XX; Su HZ; Zou XH; Lai LL; Lu YQ; Wang C; Li YL; Hong JM; Zhao M; Lin KX; Lin J; Zeng YH; Yao XP; Wang N; Chen WJ
    Clin Genet; 2019 Jul; 96(1):53-60. PubMed ID: 30891739
    [TBL] [Abstract][Full Text] [Related]  

  • 22. 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]  

  • 23. 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]  

  • 24. Brain calcification process and phenotypes according to age and sex: Lessons from SLC20A2, PDGFB, and PDGFRB mutation carriers.
    Nicolas G; Charbonnier C; de Lemos RR; Richard AC; Guillin O; Wallon D; Legati A; Geschwind D; Coppola G; Frebourg T; Campion D; de Oliveira JR; Hannequin D;
    Am J Med Genet B Neuropsychiatr Genet; 2015 Oct; 168(7):586-94. PubMed ID: 26129893
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Deconstructing Fahr's disease/syndrome of brain calcification in the era of new genes.
    Batla A; Tai XY; Schottlaender L; Erro R; Balint B; Bhatia KP
    Parkinsonism Relat Disord; 2017 Apr; 37():1-10. PubMed ID: 28162874
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Estimation of minimal disease prevalence from population genomic data: Application to primary familial brain calcification.
    Nicolas G; Charbonnier C; Campion D; Veltman JA
    Am J Med Genet B Neuropsychiatr Genet; 2018 Jan; 177(1):68-74. PubMed ID: 29152850
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification.
    Nicolas G; Pottier C; Charbonnier C; Guyant-Maréchal L; Le Ber I; Pariente J; Labauge P; Ayrignac X; Defebvre L; Maltête D; Martinaud O; Lefaucheur R; Guillin O; Wallon D; Chaumette B; Rondepierre P; Derache N; Fromager G; Schaeffer S; Krystkowiak P; Verny C; Jurici S; Sauvée M; Vérin M; Lebouvier T; Rouaud O; Thauvin-Robinet C; Rousseau S; Rovelet-Lecrux A; Frebourg T; Campion D; Hannequin D;
    Brain; 2013 Nov; 136(Pt 11):3395-407. PubMed ID: 24065723
    [TBL] [Abstract][Full Text] [Related]  

  • 28. The Pathology of Primary Familial Brain Calcification: Implications for Treatment.
    Xu X; Sun H; Luo J; Cheng X; Lv W; Luo W; Chen WJ; Xiong ZQ; Liu JY
    Neurosci Bull; 2023 Apr; 39(4):659-674. PubMed ID: 36469195
    [TBL] [Abstract][Full Text] [Related]  

  • 29. [Progress on the Pathophysiology of Idiopathic Basal Ganglia Calcification].
    Hozumi I
    Brain Nerve; 2019 Jan; 71(1):59-66. PubMed ID: 30630130
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Analysis of gene expression pattern and neuroanatomical correlates for SLC20A2 (PiT-2) shows a molecular network with potential impact in idiopathic basal ganglia calcification ("Fahr's disease").
    da Silva RJ; Pereira IC; Oliveira JR
    J Mol Neurosci; 2013 Jun; 50(2):280-3. PubMed ID: 23576097
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Primary familial brain calcification: Genetic analysis and clinical spectrum.
    Taglia I; Mignarri A; Olgiati S; Menci E; Petrocelli PL; Breedveld GJ; Scaglione C; Martinelli P; Federico A; Bonifati V; Dotti MT
    Mov Disord; 2014 Nov; 29(13):1691-5. PubMed ID: 25284758
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Primary familial brain calcification linked to deletion of 5' noncoding region of SLC20A2.
    Pasanen P; Mäkinen J; Myllykangas L; Guerreiro R; Bras J; Valori M; Viitanen M; Baumann M; Tienari PJ; Pöyhönen M; Baumann P
    Acta Neurol Scand; 2017 Jul; 136(1):59-63. PubMed ID: 27726124
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Primary brain calcification: an international study reporting novel variants and associated phenotypes.
    Ramos EM; Carecchio M; Lemos R; Ferreira J; Legati A; Sears RL; Hsu SC; Panteghini C; Magistrelli L; Salsano E; Esposito S; Taroni F; Richard AC; Tranchant C; Anheim M; Ayrignac X; Goizet C; Vidailhet M; Maltete D; Wallon D; Frebourg T; Pimentel L; Geschwind DH; Vanakker O; Galasko D; Fogel BL; Innes AM; Ross A; Dobyns WB; Alcantara D; O'Driscoll M; Hannequin D; Campion D; ; Oliveira JR; Garavaglia B; Coppola G; Nicolas G
    Eur J Hum Genet; 2018 Oct; 26(10):1462-1477. PubMed ID: 29955172
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Primary familial brain calcifications.
    Quintáns B; Oliveira J; Sobrido MJ
    Handb Clin Neurol; 2018; 147():307-317. PubMed ID: 29325620
    [TBL] [Abstract][Full Text] [Related]  

  • 35. MYORG Mutation Heterozygosity Is Associated With Brain Calcification.
    Chen Y; Cen Z; Chen X; Wang H; Chen S; Yang D; Fu F; Wang L; Liu P; Wu H; Zheng X; Xie F; Ouyang Z; Zhang Y; Zhou Y; Huang X; Wang F; Huang G; An H; Liang Y; Hong W; Wang A; Huang S; Chen W; Yin L; Yang Y; Huang H; Zeng R; Zhao N; Jiang B; Zhang B; Luo W;
    Mov Disord; 2020 Apr; 35(4):679-686. PubMed ID: 31951047
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Inorganic phosphorus (Pi) in CSF is a biomarker for SLC20A2-associated idiopathic basal ganglia calcification (IBGC1).
    Hozumi I; Kurita H; Ozawa K; Furuta N; Inden M; Sekine SI; Yamada M; Hayashi Y; Kimura A; Inuzuka T; Seishima M
    J Neurol Sci; 2018 May; 388():150-154. PubMed ID: 29627011
    [TBL] [Abstract][Full Text] [Related]  

  • 37. A case report of a patient with primary familial brain calcification with a
    Al Ali J; Yang J; Phillips MS; Fink J; Mastrianni J; Seibert K
    Front Neurol; 2023; 14():1235909. PubMed ID: 37780723
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Novel mutations of PDGFRB cause primary familial brain calcification in Chinese families.
    Wang C; Yao XP; Chen HT; Lai JH; Guo XX; Su HZ; Dong EL; Zhang QJ; Wang N; Chen WJ
    J Hum Genet; 2017 Jul; 62(7):697-701. PubMed ID: 28298627
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Clinical and radiological diversity in genetically confirmed primary familial brain calcification.
    Koyama S; Sato H; Kobayashi R; Kawakatsu S; Kurimura M; Wada M; Kawanami T; Kato T
    Sci Rep; 2017 Sep; 7(1):12046. PubMed ID: 28935882
    [TBL] [Abstract][Full Text] [Related]  

  • 40.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 8.