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 *

472 related articles for article (PubMed ID: 10767337)

  • 1. Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location.
    Cheadle JP; Gill H; Fleming N; Maynard J; Kerr A; Leonard H; Krawczak M; Cooper DN; Lynch S; Thomas N; Hughes H; Hulten M; Ravine D; Sampson JR; Clarke A
    Hum Mol Genet; 2000 Apr; 9(7):1119-29. PubMed ID: 10767337
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2.
    Amir RE; Van den Veyver IB; Wan M; Tran CQ; Francke U; Zoghbi HY
    Nat Genet; 1999 Oct; 23(2):185-8. PubMed ID: 10508514
    [TBL] [Abstract][Full Text] [Related]  

  • 3. MECP2 mutations account for most cases of typical forms of Rett syndrome.
    Bienvenu T; Carrié A; de Roux N; Vinet MC; Jonveaux P; Couvert P; Villard L; Arzimanoglou A; Beldjord C; Fontes M; Tardieu M; Chelly J
    Hum Mol Genet; 2000 May; 9(9):1377-84. PubMed ID: 10814719
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms.
    Buyse IM; Fang P; Hoon KT; Amir RE; Zoghbi HY; Roa BB
    Am J Hum Genet; 2000 Dec; 67(6):1428-36. PubMed ID: 11055898
    [TBL] [Abstract][Full Text] [Related]  

  • 5. DHPLC analysis of the MECP2 gene in Italian Rett patients.
    Nicolao P; Carella M; Giometto B; Tavolato B; Cattin R; Giovannucci-Uzielli ML; Vacca M; Della Regione F; Piva S; Bortoluzzi S; Gasparini P
    Hum Mutat; 2001 Aug; 18(2):132-40. PubMed ID: 11462237
    [TBL] [Abstract][Full Text] [Related]  

  • 6. [Mutational analysis of MECP2 gene in Rett syndrome].
    Pan H; Wang Y; Meng H; Bao X; Zhang Y; Shen Y; Wu X
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2002 Aug; 19(4):276-80. PubMed ID: 12170461
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Spectrum of MECP2 mutations in Rett syndrome.
    Lee SS; Wan M; Francke U
    Brain Dev; 2001 Dec; 23 Suppl 1():S138-43. PubMed ID: 11738860
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms.
    Fukuda T; Yamashita Y; Nagamitsu S; Miyamoto K; Jin JJ; Ohmori I; Ohtsuka Y; Kuwajima K; Endo S; Iwai T; Yamagata H; Tabara Y; Miki T; Matsuishi T; Kondo I
    Brain Dev; 2005 Apr; 27(3):211-7. PubMed ID: 15737703
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients.
    Huppke P; Laccone F; Krämer N; Engel W; Hanefeld F
    Hum Mol Genet; 2000 May; 9(9):1369-75. PubMed ID: 10814718
    [TBL] [Abstract][Full Text] [Related]  

  • 10. [MECP2 gene mutations in twenty-six cases with atypical Rett syndrome].
    Li MR; Pan H; Bao XH; Zhang YZ; Jiang SL; Wu XR
    Zhonghua Er Ke Za Zhi; 2006 Apr; 44(4):285-8. PubMed ID: 16780651
    [TBL] [Abstract][Full Text] [Related]  

  • 11. MECP2 truncating mutations cause histone H4 hyperacetylation in Rett syndrome.
    Wan M; Zhao K; Lee SS; Francke U
    Hum Mol Genet; 2001 May; 10(10):1085-92. PubMed ID: 11331619
    [TBL] [Abstract][Full Text] [Related]  

  • 12. MECP2 gene mutation analysis in Chinese patients with Rett syndrome.
    Pan H; Wang YP; Bao XH; Meng HD; Zhang Y; Wu XR; Shen Y
    Eur J Hum Genet; 2002 Aug; 10(8):484-6. PubMed ID: 12111643
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots.
    Wan M; Lee SS; Zhang X; Houwink-Manville I; Song HR; Amir RE; Budden S; Naidu S; Pereira JL; Lo IF; Zoghbi HY; Schanen NC; Francke U
    Am J Hum Genet; 1999 Dec; 65(6):1520-9. PubMed ID: 10577905
    [TBL] [Abstract][Full Text] [Related]  

  • 14. [Mutation spectrum and genotype-phenotype correlation of MECP2 in patients with Rett syndrome].
    Kondo I; Yamagata H
    No To Hattatsu; 2002 May; 34(3):219-23. PubMed ID: 12030010
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Rett syndrome: the complex nature of a monogenic disease.
    Renieri A; Meloni I; Longo I; Ariani F; Mari F; Pescucci C; Cambi F
    J Mol Med (Berl); 2003 Jun; 81(6):346-54. PubMed ID: 12750821
    [TBL] [Abstract][Full Text] [Related]  

  • 16. MeCP2 mutations in children with and without the phenotype of Rett syndrome.
    Hoffbuhr K; Devaney JM; LaFleur B; Sirianni N; Scacheri C; Giron J; Schuette J; Innis J; Marino M; Philippart M; Narayanan V; Umansky R; Kronn D; Hoffman EP; Naidu S
    Neurology; 2001 Jun; 56(11):1486-95. PubMed ID: 11402105
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Mutational analysis of MECP2 in Japanese patients with atypical Rett syndrome.
    Inui K; Akagi M; Ono J; Tsukamoto H; Shimono K; Mano T; Imai K; Yamada M; Muramatsu T; Sakai N; Okada S
    Brain Dev; 2001 Jul; 23(4):212-5. PubMed ID: 11376998
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Effects of MECP2 mutation type, location and X-inactivation in modulating Rett syndrome phenotype.
    Weaving LS; Williamson SL; Bennetts B; Davis M; Ellaway CJ; Leonard H; Thong MK; Delatycki M; Thompson EM; Laing N; Christodoulou J
    Am J Med Genet A; 2003 Apr; 118A(2):103-14. PubMed ID: 12655490
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Mutation analysis of MECP2 and clinical characterization in Korean patients with Rett syndrome.
    Chae JH; Hwang YS; Kim KJ
    J Child Neurol; 2002 Jan; 17(1):33-6. PubMed ID: 11913567
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Five novel frameshift mutations in exon 3 and 4 of the MECP2 gene identified in Rett patients: Consequences for the molecular diagnosis strategy.
    Bienvenu T; Souville I; Poirier K; Aquaviva C; Burglen L; Amiel J; Héron B; Kaminska A; Couvert P; Beldjord C; Chelly J
    Hum Mutat; 2001 Sep; 18(3):251-2. PubMed ID: 11524737
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 24.