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 *

324 related articles for article (PubMed ID: 25714420)

  • 1. A de-novo STXBP1 gene mutation in a patient showing the Rett syndrome phenotype.
    Romaniello R; Saettini F; Panzeri E; Arrigoni F; Bassi MT; Borgatti R
    Neuroreport; 2015 Mar; 26(5):254-7. PubMed ID: 25714420
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A novel STXBP1 mutation causes typical Rett syndrome in a Japanese girl.
    Yuge K; Iwama K; Yonee C; Matsufuji M; Sano N; Saikusa T; Yae Y; Yamashita Y; Mizuguchi T; Matsumoto N; Matsuishi T
    Brain Dev; 2018 Jun; 40(6):493-497. PubMed ID: 29544889
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome.
    Olson HE; Tambunan D; LaCoursiere C; Goldenberg M; Pinsky R; Martin E; Ho E; Khwaja O; Kaufmann WE; Poduri A
    Am J Med Genet A; 2015 Sep; 167A(9):2017-25. PubMed ID: 25914188
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Pathogenic Variants in
    Cogliati F; Giorgini V; Masciadri M; Bonati MT; Marchi M; Cracco I; Gentilini D; Peron A; Savini MN; Spaccini L; Scelsa B; Maitz S; Veneselli E; Prato G; Pintaudi M; Moroni I; Vignoli A; Larizza L; Russo S
    Int J Mol Sci; 2019 Jul; 20(15):. PubMed ID: 31344879
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Novel mutation in forkhead box G1 (FOXG1) gene in an Indian patient with Rett syndrome.
    Das DK; Jadhav V; Ghattargi VC; Udani V
    Gene; 2014 Mar; 538(1):109-12. PubMed ID: 24412290
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutations.
    Hadzsiev K; Polgar N; Bene J; Komlosi K; Karteszi J; Hollody K; Kosztolanyi G; Renieri A; Melegh B
    J Hum Genet; 2011 Mar; 56(3):183-7. PubMed ID: 21160487
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases.
    Di Meglio C; Lesca G; Villeneuve N; Lacoste C; Abidi A; Cacciagli P; Altuzarra C; Roubertie A; Afenjar A; Renaldo-Robin F; Isidor B; Gautier A; Husson M; Cances C; Metreau J; Laroche C; Chouchane M; Ville D; Marignier S; Rougeot C; Lebrun M; de Saint Martin A; Perez A; Riquet A; Badens C; Missirian C; Philip N; Chabrol B; Villard L; Milh M
    Epilepsia; 2015 Dec; 56(12):1931-40. PubMed ID: 26514728
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A missense mutation within the fork-head domain of the forkhead box G1 Gene (FOXG1) affects its nuclear localization.
    Le Guen T; Fichou Y; Nectoux J; Bahi-Buisson N; Rivier F; Boddaert N; Diebold B; Héron D; Chelly J; Bienvenu T
    Hum Mutat; 2011 Feb; 32(2):E2026-35. PubMed ID: 21280142
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Clinical spectrum of early-onset epileptic encephalopathies associated with STXBP1 mutations.
    Deprez L; Weckhuysen S; Holmgren P; Suls A; Van Dyck T; Goossens D; Del-Favero J; Jansen A; Verhaert K; Lagae L; Jordanova A; Van Coster R; Yendle S; Berkovic SF; Scheffer I; Ceulemans B; De Jonghe P
    Neurology; 2010 Sep; 75(13):1159-65. PubMed ID: 20876469
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Revisiting the phenotype associated with FOXG1 mutations: two novel cases of congenital Rett variant.
    Bahi-Buisson N; Nectoux J; Girard B; Van Esch H; De Ravel T; Boddaert N; Plouin P; Rio M; Fichou Y; Chelly J; Bienvenu T
    Neurogenetics; 2010 May; 11(2):241-9. PubMed ID: 19806373
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Epilepsy in Rett syndrome, and CDKL5- and FOXG1-gene-related encephalopathies.
    Guerrini R; Parrini E
    Epilepsia; 2012 Dec; 53(12):2067-78. PubMed ID: 22998673
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Novel mutations in cyclin-dependent kinase-like 5 (CDKL5) gene in Indian cases of Rett syndrome.
    Das DK; Mehta B; Menon SR; Raha S; Udani V
    Neuromolecular Med; 2013 Mar; 15(1):218-25. PubMed ID: 23242510
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Associations between MeCP2 mutations, X-chromosome inactivation, and phenotype.
    Hoffbuhr KC; Moses LM; Jerdonek MA; Naidu S; Hoffman EP
    Ment Retard Dev Disabil Res Rev; 2002; 8(2):99-105. PubMed ID: 12112735
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Spectrum of MECP2 mutations in New Zealand Rett syndrome patients.
    Raizis AM; Saleem M; MacKay R; George PM
    N Z Med J; 2009 Jun; 122(1296):21-8. PubMed ID: 19652677
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Clinical phenotype of 5 females with a CDKL5 mutation.
    Stalpers XL; Spruijt L; Yntema HG; Verrips A
    J Child Neurol; 2012 Jan; 27(1):90-3. PubMed ID: 21765152
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Netrin G1 mutations are an uncommon cause of atypical Rett syndrome with or without epilepsy.
    Nectoux J; Girard B; Bahi-Buisson N; Prieur F; Afenjar A; Rosas-Vargas H; Chelly J; Bienvenu T
    Pediatr Neurol; 2007 Oct; 37(4):270-4. PubMed ID: 17903671
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A novel mutation in STXBP1 gene in a child with epileptic encephalopathy and an atypical electroclinical pattern.
    Romaniello R; Zucca C; Tenderini E; Arrigoni F; Ragona F; Zorzi G; Bassi MT; Borgatti R
    J Child Neurol; 2014 Feb; 29(2):249-53. PubMed ID: 24170257
    [TBL] [Abstract][Full Text] [Related]  

  • 18. [Rett syndrome: a diagnostic, clinical and molecular update].
    Tejada MI
    Rev Neurol; 2006 Jan; 42 Suppl 1():S55-9. PubMed ID: 16506134
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Epilepsy in Rett syndrome--lessons from the Rett networked database.
    Nissenkorn A; Levy-Drummer RS; Bondi O; Renieri A; Villard L; Mari F; Mencarelli MA; Lo Rizzo C; Meloni I; Pineda M; Armstrong J; Clarke A; Bahi-Buisson N; Mejaski BV; Djuric M; Craiu D; Djukic A; Pini G; Bisgaard AM; Melegh B; Vignoli A; Russo S; Anghelescu C; Veneselli E; Hayek J; Ben-Zeev B
    Epilepsia; 2015 Apr; 56(4):569-76. PubMed ID: 25789914
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Rett syndrome: from the gene to the disease.
    Matijevic T; Knezevic J; Slavica M; Pavelic J
    Eur Neurol; 2009; 61(1):3-10. PubMed ID: 18948693
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 17.