BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

115 related articles for article (PubMed ID: 30793011)

  • 1. A Not So Benign Family Pedigree With Hereditary Chorea: A Broader Phenotypic Expression or Additional Picture?
    Milone R; Masson R; Di Cosmo C; Tonacchera M; Bertini V; Guzzetta A; Battini R
    Child Neurol Open; 2019; 6():2329048X19828881. PubMed ID: 30793011
    [No Abstract]   [Full Text] [Related]  

  • 2. Benign hereditary chorea, not only chorea: a family case presentation.
    Koht J; Løstegaard SO; Wedding I; Vidailhet M; Louha M; Tallaksen CM
    Cerebellum Ataxias; 2016; 3():3. PubMed ID: 26839702
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Benign hereditary chorea related to NKX2.1: expansion of the genotypic and phenotypic spectrum.
    Peall KJ; Lumsden D; Kneen R; Madhu R; Peake D; Gibbon F; Lewis H; Hedderly T; Meyer E; Robb SA; Lynch B; King MD; Lin JP; Morris HR; Jungbluth H; Kurian MA
    Dev Med Child Neurol; 2014 Jul; 56(7):642-8. PubMed ID: 24171694
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Differential diagnosis of Huntington's disease- neurological aspects of NKX2-1-related disorders.
    Skwara J; Nowicki M; Sharif L; Milanowski Ł; Dulski J; Elert-Dobkowska E; Skrzypek K; Hoffman-Zacharska D; Koziorowski D; Sławek J
    J Neural Transm (Vienna); 2024 Jun; ():. PubMed ID: 38916623
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Is Benign Hereditary Chorea Really Benign? Brain-Lung-Thyroid Syndrome Caused by
    Parnes M; Bashir H; Jankovic J
    Mov Disord Clin Pract; 2019 Jan; 6(1):34-39. PubMed ID: 30746413
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Benign hereditary non-progressive chorea of early onset. Clinical genetics of the syndrome and report of a new family.
    Burns J; Neuhäuser G; Tomasi L
    Neuropadiatrie; 1976 Nov; 7(4):431-8. PubMed ID: 1036766
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Benign hereditary chorea and deletions outside NKX2-1: What's the role of MBIP?
    Invernizzi F; Zorzi G; Legati A; Coppola G; D'Adamo P; Nardocci N; Garavaglia B; Ghezzi D
    Eur J Med Genet; 2018 Oct; 61(10):581-584. PubMed ID: 29621620
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A Video Report of Brain-Lung-Thyroid Syndrome in a Japanese Female With a Novel Frameshift Mutation of the
    Tozawa T; Yokochi K; Kono S; Konishi T; Yamamoto T; Nishimura A; Chiyonobu T; Morimoto M; Hosoi H
    Child Neurol Open; 2016; 3():2329048X16665012. PubMed ID: 28503612
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Deletion of conserved non-coding sequences downstream from NKX2-1: A novel disease-causing mechanism for benign hereditary chorea.
    Liao J; Coffman KA; Locker J; Padiath QS; Nmezi B; Filipink RA; Hu J; Sathanoori M; Madan-Khetarpal S; McGuire M; Schreiber A; Moran R; Friedman N; Hoffner L; Rajkovic A; Yatsenko SA; Surti U
    Mol Genet Genomic Med; 2021 Apr; 9(4):e1647. PubMed ID: 33666368
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Exome sequencing analysis in a pair of monozygotic twins re-evaluates the genetics behind their intellectual disability and reveals a CHD2 mutation.
    Pinto AM; Bianciardi L; Mencarelli MA; Imperatore V; Di Marco C; Furini S; Suppiej A; Salviati L; Tenconi R; Ariani F; Mari F; Renieri A
    Brain Dev; 2016 Jun; 38(6):590-6. PubMed ID: 26754451
    [TBL] [Abstract][Full Text] [Related]  

  • 11. [Chorea due to TITF1/NKX2-1 mutation: phenotypical description and therapeutic response in a family].
    Salvado M; Boronat-Guerrero S; Hernández-Vara J; Álvarez-Sabin J
    Rev Neurol; 2013 May; 56(10):515-20. PubMed ID: 23658034
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Benign hereditary chorea: phenotype, prognosis, therapeutic outcome and long term follow-up in a large series with new mutations in the TITF1/NKX2-1 gene.
    Gras D; Jonard L; Roze E; Chantot-Bastaraud S; Koht J; Motte J; Rodriguez D; Louha M; Caubel I; Kemlin I; Lion-François L; Goizet C; Guillot L; Moutard ML; Epaud R; Héron B; Charles P; Tallot M; Camuzat A; Durr A; Polak M; Devos D; Sanlaville D; Vuillaume I; Billette de Villemeur T; Vidailhet M; Doummar D
    J Neurol Neurosurg Psychiatry; 2012 Oct; 83(10):956-62. PubMed ID: 22832740
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Diagnostic exome sequencing identifies a heterozygous MBD5 frameshift mutation in a family with intellectual disability and epilepsy.
    Han JY; Lee IG; Jang W; Kim M; Kim Y; Jang JH; Park J
    Eur J Med Genet; 2017 Oct; 60(10):559-564. PubMed ID: 28807762
    [TBL] [Abstract][Full Text] [Related]  

  • 14. NKX2-1 New Mutation Associated With Myoclonus, Dystonia, and Pituitary Involvement.
    Balicza P; Grosz Z; Molnár V; Illés A; Csabán D; Gézsi A; Dézsi L; Zádori D; Vécsei L; Molnár MJ
    Front Genet; 2018; 9():335. PubMed ID: 30186310
    [No Abstract]   [Full Text] [Related]  

  • 15. 3 generation pedigree with paternal transmission of the 22q11.2 deletion syndrome: Intrafamilial phenotypic variability.
    Vergaelen E; Swillen A; Van Esch H; Claes S; Van Goethem G; Devriendt K
    Eur J Med Genet; 2015 Apr; 58(4):244-8. PubMed ID: 25655469
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism.
    Kim HG; Rosenfeld JA; Scott DA; Bénédicte G; Labonne JD; Brown J; McGuire M; Mahida S; Naidu S; Gutierrez J; Lesca G; des Portes V; Bruel AL; Sorlin A; Xia F; Capri Y; Muller E; McKnight D; Torti E; Rüschendorf F; Hummel O; Islam Z; Kolatkar PR; Layman LC; Ryu D; Kong IK; Madan-Khetarpal S; Kim CH
    Mol Autism; 2019; 10():35. PubMed ID: 31649809
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Benign Hereditary Chorea: An Update.
    Peall KJ; Kurian MA
    Tremor Other Hyperkinet Mov (N Y); 2015; 5():314. PubMed ID: 26196025
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Benign hereditary chorea: clinical, neuroimaging, and genetic findings.
    Mahajnah M; Inbar D; Steinmetz A; Heutink P; Breedveld GJ; Straussberg R
    J Child Neurol; 2007 Oct; 22(10):1231-4. PubMed ID: 17940252
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A novel NKX2.1 mutation in a family with hypothyroidism and benign hereditary chorea.
    Ferrara AM; De Michele G; Salvatore E; Di Maio L; Zampella E; Capuano S; Del Prete G; Rossi G; Fenzi G; Filla A; Macchia PE
    Thyroid; 2008 Sep; 18(9):1005-9. PubMed ID: 18788921
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Restless Legs Syndrome in NKX2-1-related chorea: An expansion of the disease spectrum.
    Iodice A; Carecchio M; Zorzi G; Garavaglia B; Spagnoli C; Salerno GG; Frattini D; Mencacci NE; Invernizzi F; Veneziano L; Mantuano E; Angriman M; Fusco C
    Brain Dev; 2019 Mar; 41(3):250-256. PubMed ID: 30352709
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 6.