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 *

196 related articles for article (PubMed ID: 28337550)

  • 1. Common genetic etiology between "multiple sclerosis-like" single-gene disorders and familial multiple sclerosis.
    Traboulsee AL; Sadovnick AD; Encarnacion M; Bernales CQ; Yee IM; Criscuoli MG; Vilariño-Güell C
    Hum Genet; 2017 Jun; 136(6):705-714. PubMed ID: 28337550
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Analysis of Plasminogen Genetic Variants in Multiple Sclerosis Patients.
    Sadovnick AD; Traboulsee AL; Bernales CQ; Ross JP; Forwell AL; Yee IM; Guillot-Noel L; Fontaine B; Cournu-Rebeix I; Alcina A; Fedetz M; Izquierdo G; Matesanz F; Hilven K; Dubois B; Goris A; Astobiza I; Alloza I; Antigüedad A; Vandenbroeck K; Akkad DA; Aktas O; Blaschke P; Buttmann M; Chan A; Epplen JT; Gerdes LA; Kroner A; Kubisch C; Kümpfel T; Lohse P; Rieckmann P; Zettl UK; Zipp F; Bertram L; Lill CM; Fernandez O; Urbaneja P; Leyva L; Alvarez-Cermeño JC; Arroyo R; Garagorri AM; García-Martínez A; Villar LM; Urcelay E; Malhotra S; Montalban X; Comabella M; Berger T; Fazekas F; Reindl M; Schmied MC; Zimprich A; Vilariño-Güell C
    G3 (Bethesda); 2016 Jul; 6(7):2073-9. PubMed ID: 27194806
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Exome-Sequence Analyses of Four Multi-Incident Multiple Sclerosis Families.
    Zrzavy T; Leutmezer F; Kristoferitsch W; Kornek B; Schneider C; Rommer P; Berger T; Zimprich A
    Genes (Basel); 2020 Aug; 11(9):. PubMed ID: 32854198
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Whole Exome Sequencing in Multi-Incident Families Identifies Novel Candidate Genes for Multiple Sclerosis.
    Horjus J; van Mourik-Banda T; Heerings MAP; Hakobjan M; De Witte W; Heersema DJ; Jansen AJ; Strijbis EMM; de Jong BA; Slettenaar AEJ; Zeinstra EMPE; Hoogervorst ELJ; Franke B; Kruijer W; Jongen PJ; Visser LJ; Poelmans G
    Int J Mol Sci; 2022 Sep; 23(19):. PubMed ID: 36232761
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Analysis of NOD-like receptor NLRP1 in multiple sclerosis families.
    Bernales CQ; Encarnacion M; Criscuoli MG; Yee IM; Traboulsee AL; Sadovnick AD; Vilariño-Güell C
    Immunogenetics; 2018 Mar; 70(3):205-207. PubMed ID: 28988323
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Identification of rare genetic variation of NLRP1 gene in familial multiple sclerosis.
    Maver A; Lavtar P; Ristić S; Stopinšek S; Simčič S; Hočevar K; Sepčić J; Drulović J; Pekmezović T; Novaković I; Alenka H; Rudolf G; Šega S; Starčević-Čizmarević N; Palandačić A; Zamolo G; Kapović M; Likar T; Peterlin B
    Sci Rep; 2017 Jun; 7(1):3715. PubMed ID: 28623311
    [TBL] [Abstract][Full Text] [Related]  

  • 7. CYP27A1, CYP24A1, and RXR-α Polymorphisms, Vitamin D, and Multiple Sclerosis: a Pilot Study.
    Agnello L; Scazzone C; Lo Sasso B; Ragonese P; Milano S; Salemi G; Ciaccio M
    J Mol Neurosci; 2018 Sep; 66(1):77-84. PubMed ID: 30088172
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Late-onset Cerebrotendinous Xanthomatosis with a Novel Mutation in the CYP27A1 Gene.
    Sasamura A; Akazawa S; Haraguchi A; Horie I; Ando T; Abiru N; Takei H; Nittono H; Une M; Kurosawa T; Murai T; Naruse H; Nakayama T; Kotani K; Remaley AT; Kawakami A
    Intern Med; 2018 Jun; 57(11):1611-1616. PubMed ID: 29434128
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Rare variants in the CYP27B1 gene are associated with multiple sclerosis.
    Ramagopalan SV; Dyment DA; Cader MZ; Morrison KM; Disanto G; Morahan JM; Berlanga-Taylor AJ; Handel A; De Luca GC; Sadovnick AD; Lepage P; Montpetit A; Ebers GC
    Ann Neurol; 2011 Dec; 70(6):881-6. PubMed ID: 22190362
    [TBL] [Abstract][Full Text] [Related]  

  • 10. The wide spectrum of cerebrotendinous xanthomatosis: Case report of a rare but treatable disease.
    Rosafio F; Cavallieri F; Guaraldi P; Taroni F; Nichelli PF; Mandrioli J
    Clin Neurol Neurosurg; 2016 Apr; 143():1-3. PubMed ID: 26874936
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Mutation in CYP27A1 identified in family with coronary artery disease.
    Inanloorahatloo K; Zand Parsa AF; Huse K; Rasooli P; Davaran S; Platzer M; Fan JB; Amini S; Steemers F; Elahi E
    Eur J Med Genet; 2013 Dec; 56(12):655-60. PubMed ID: 24080357
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Three siblings with Cerebrotendinous Xanthomatosis: a novel mutation in the CYP27A1 gene.
    Suh S; Kim HK; Park HD; Ki CS; Kim MY; Jin SM; Kim SW; Hur KY; Kim KW; Kim JH
    Eur J Med Genet; 2012 Jan; 55(1):71-4. PubMed ID: 21958693
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Exome sequencing in multiple sclerosis families identifies 12 candidate genes and nominates biological pathways for the genesis of disease.
    Vilariño-Güell C; Zimprich A; Martinelli-Boneschi F; Herculano B; Wang Z; Matesanz F; Urcelay E; Vandenbroeck K; Leyva L; Gris D; Massaad C; Quandt JA; Traboulsee AL; Encarnacion M; Bernales CQ; Follett J; Yee IM; Criscuoli MG; Deutschländer A; Reinthaler EM; Zrzavy T; Mascia E; Zauli A; Esposito F; Alcina A; Izquierdo G; Espino-Paisán L; Mena J; Antigüedad A; Urbaneja-Romero P; Ortega-Pinazo J; Song W; Sadovnick AD
    PLoS Genet; 2019 Jun; 15(6):e1008180. PubMed ID: 31170158
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Unique case of cerebrotendinous xanthomatosis revisited: All the mutations responsible for this disease are present in the CYP27A1 gene.
    Jiao H; Olin M; Hansson M; Eggertsen G; Eriksson M; Angelin B; Björkhem I
    J Intern Med; 2018 Jun; 283(6):604-606. PubMed ID: 29095540
    [No Abstract]   [Full Text] [Related]  

  • 15. A novel frameshift mutation in the sterol 27-hydroxylase gene in an Egyptian family with cerebrotendinous xanthomatosis without cataract.
    Abdel-Hamid MS; Issa MY; Otaify GA; Zaki MS
    Metab Brain Dis; 2017 Apr; 32(2):311-315. PubMed ID: 28229379
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Novel cerebrotendinous xanthomatosis mutation causes familial early dementia in Colombia.
    Giraldo-Chica M; Acosta-Baena N; Urbano L; Velilla L; Lopera F; Pineda N
    Biomedica; 2015; 35(4):563-71. PubMed ID: 26844446
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Juvenile cataract morphology in 3 siblings not yet diagnosed with cerebrotendinous xanthomatosis.
    Khan AO; Aldahmesh MA; Mohamed JY; Alkuraya FS
    Ophthalmology; 2013 May; 120(5):956-60. PubMed ID: 23375591
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A genome scan in a single pedigree with a high prevalence of multiple sclerosis.
    Dyment DA; Cader MZ; Herrera BM; Ramagopalan SV; Orton SM; Chao M; Willer CJ; Sadovnick AD; Risch N; Ebers GC
    J Neurol Neurosurg Psychiatry; 2008 Feb; 79(2):158-62. PubMed ID: 17550985
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Cerebrotendinous xanthomatosis.
    Björkhem I
    Curr Opin Lipidol; 2013 Aug; 24(4):283-7. PubMed ID: 23759795
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Sequence of mitochondrial DNA in patients with multiple sclerosis.
    Chalmers RM; Robertson N; DAS Compston ; Harding AE
    Ann Neurol; 1996 Aug; 40(2):239-43. PubMed ID: 8773606
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.