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 *

132 related articles for article (PubMed ID: 38917695)

  • 21. 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]  

  • 22. A Novel Missense Variant in the NKX2-1
    Villafuerte B; Carrasco-López C; Herranz A; Garzón L; Simón R; Natera-de-Benito D; Alikhani P; Tenorio J; García-Santiago F; Solis M; Del-Pozo Á; Lapunzina P; Ortigoza-Escobar JD; Santisteban P; Moreno JC
    Thyroid; 2024 Jul; 34(7):942-948. PubMed ID: 38757609
    [No Abstract]   [Full Text] [Related]  

  • 23. 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]  

  • 24. TAZ/WWTR1 Mediates the Pulmonary Effects of NKX2-1 Mutations in Brain-Lung-Thyroid Syndrome.
    Moya CM; Zaballos MA; Garzón L; Luna C; Simón R; Yaffe MB; Gallego E; Santisteban P; Moreno JC
    J Clin Endocrinol Metab; 2018 Mar; 103(3):839-852. PubMed ID: 29294041
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Heterogeneity of lung disease associated with NK2 homeobox 1 mutations.
    Nattes E; Lejeune S; Carsin A; Borie R; Gibertini I; Balinotti J; Nathan N; Marchand-Adam S; Thumerelle C; Fauroux B; Bosdure E; Houdouin V; Delestrain C; Louha M; Couderc R; De Becdelievre A; Fanen P; Funalot B; Crestani B; Deschildre A; Dubus JC; Epaud R
    Respir Med; 2017 Aug; 129():16-23. PubMed ID: 28732825
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Novel Mutations in the NKX2.1 gene and the PAX8 gene in a Boy with Brain-Lung-Thyroid Syndrome.
    Hermanns P; Kumorowicz-Czoch M; Grasberger H; Refetoff S; Pohlenz J
    Exp Clin Endocrinol Diabetes; 2018 Feb; 126(2):85-90. PubMed ID: 28954305
    [TBL] [Abstract][Full Text] [Related]  

  • 27. l-Thyroxine-responsive drop attacks in childhood benign hereditary chorea: A case report.
    Shiohama T; Ohashi H; Shimizu K; Fujii K; Oba D; Takatani T; Kato M; Shimojo N
    Brain Dev; 2018 Apr; 40(4):353-356. PubMed ID: 29289388
    [TBL] [Abstract][Full Text] [Related]  

  • 28. [Analysis of clinical characteristics and variant of NKX2-1 gene in a Chinese boy with Brain-Lung-Thyroid syndrome].
    Dong R; Liu Y; Shi B; Huang Y; Lyu Y; Liu Y
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2024 Aug; 41(8):947-952. PubMed ID: 39097277
    [TBL] [Abstract][Full Text] [Related]  

  • 29. A case of brain
    Liang R; Ou S; Ding Y; Liu C
    Zhong Nan Da Xue Xue Bao Yi Xue Ban; 2022 Mar; 47(3):396-400. PubMed ID: 35545334
    [TBL] [Abstract][Full Text] [Related]  

  • 30. 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]  

  • 31. Identification and functional characterization of a novel mutation in the NKX2-1 gene: comparison with the data in the literature.
    Nettore IC; Mirra P; Ferrara AM; Sibilio A; Pagliara V; Kay CS; Lorenzoni PJ; Werneck LC; Bruck I; Dos Santos LH; Beguinot F; Salvatore D; Ungaro P; Fenzi G; Scola RH; Macchia PE
    Thyroid; 2013 Jun; 23(6):675-82. PubMed ID: 23379327
    [TBL] [Abstract][Full Text] [Related]  

  • 32. 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]  

  • 33. Brain-lung-thyroid syndrome in a neonate with argininosuccinate lyase deficiency.
    Ediger K; Hicks A; Siriwardena K; Joynt C
    BMJ Case Rep; 2021 Mar; 14(3):. PubMed ID: 33789861
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Multiplex Ligation-dependent Probe Amplification improves the detection rate of NKX2.1 mutations in patients affected by brain-lung-thyroid syndrome.
    Teissier R; Guillot L; Carré A; Morandini M; Stuckens C; Ythier H; Munnich A; Szinnai G; de Blic J; Clement A; Leger J; Castanet M; Epaud R; Polak M
    Horm Res Paediatr; 2012; 77(3):146-51. PubMed ID: 22488412
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Child-to-adult transition: a survey of current practices within the European Reference Network for Rare Neurological Diseases (ERN-RND).
    Nanetti L; Kearney M; Boesch S; Stovickova L; Ortigoza-Escobar JD; Macaya A; Gomez-Andres D; Roze E; Molnar MJ; Wolf NI; Darling A; Vasco G; Bertini E; Indelicato E; Neubauer D; Haack TB; Sagi JC; Danti FR; Sival D; Zanni G; Kolk A; Boespflug-Tanguy O; Schols L; van de Warrenburg B; Vidailhet M; Willemsen MA; Buizer AI; Orzes E; Ripp S; Reinhard C; Moroni I; Mariotti C;
    Neurol Sci; 2024 Mar; 45(3):1007-1016. PubMed ID: 37853291
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Chorea.
    Termsarasab P
    Continuum (Minneap Minn); 2019 Aug; 25(4):1001-1035. PubMed ID: 31356291
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Working memory, attention and planning abilities in NKX2.1-related chorea.
    Graziola F; Garone G; Grasso M; Schirinzi T; Capuano A
    Parkinsonism Relat Disord; 2021 Jul; 88():24-27. PubMed ID: 34091414
    [TBL] [Abstract][Full Text] [Related]  

  • 38. [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]  

  • 39. Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency.
    Krude H; Schütz B; Biebermann H; von Moers A; Schnabel D; Neitzel H; Tönnies H; Weise D; Lafferty A; Schwarz S; DeFelice M; von Deimling A; van Landeghem F; DiLauro R; Grüters A
    J Clin Invest; 2002 Feb; 109(4):475-80. PubMed ID: 11854319
    [TBL] [Abstract][Full Text] [Related]  

  • 40. 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]  

    [Previous]   [Next]    [New Search]
    of 7.