BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

233 related articles for article (PubMed ID: 11313764)

  • 1. Parental origin of de novo MECP2 mutations in Rett syndrome.
    Girard M; Couvert P; Carrié A; Tardieu M; Chelly J; Beldjord C; Bienvenu T
    Eur J Hum Genet; 2001 Mar; 9(3):231-6. PubMed ID: 11313764
    [TBL] [Abstract][Full Text] [Related]  

  • 2. [Analysis of the parental origin of de novo MECP2 mutations and X chromosome inactivation in fifteen sporadic cases with Rett syndrome].
    Zhu XW; Pan H; Li MR; Bao XH; Zhang JJ; Wu XR
    Zhonghua Er Ke Za Zhi; 2009 Aug; 47(8):565-9. PubMed ID: 19951486
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Mutations and polymorphisms in the human methyl CpG-binding protein MECP2.
    Miltenberger-Miltenyi G; Laccone F
    Hum Mutat; 2003 Aug; 22(2):107-15. PubMed ID: 12872250
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Molecular analysis of Japanese patients with Rett syndrome: Identification of five novel mutations and genotype-phenotype correlation.
    Yamada Y; Miura K; Kumagai T; Hayakawa C; Miyazaki S; Matsumoto A; Kurosawa K; Nomura N; Taniguchi H; Sonta SI; Yamanaka T; Wakamatsu N
    Hum Mutat; 2001 Sep; 18(3):253. PubMed ID: 11524741
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Novel de novo nonsense mutation of MECP2 in a patient with Rett syndrome.
    Kim SJ; Cook EH
    Hum Mutat; 2000 Apr; 15(4):382-3. PubMed ID: 10737989
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. MECP2 mutations in Danish patients with Rett syndrome: high frequency of mutations but no consistent correlations with clinical severity or with the X chromosome inactivation pattern.
    Nielsen JB; Henriksen KF; Hansen C; Silahtaroglu A; Schwartz M; Tommerup N
    Eur J Hum Genet; 2001 Mar; 9(3):178-84. PubMed ID: 11313756
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Association by guilt: identification of DLX5 as a target for MeCP2 provides a molecular link between genomic imprinting and Rett syndrome.
    Bapat S; Galande S
    Bioessays; 2005 Jul; 27(7):676-80. PubMed ID: 15954098
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. 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]  

  • 11. [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]  

  • 12. Somatic mosaicism for a MECP2 mutation associated with classic Rett syndrome in a boy.
    Topçu M; Akyerli C; Sayi A; Törüner GA; Koçoğlu SR; Cimbiş M; Ozçelik T
    Eur J Hum Genet; 2002 Jan; 10(1):77-81. PubMed ID: 11896459
    [TBL] [Abstract][Full Text] [Related]  

  • 13. [Analysis of the parental origin of MECP2 mutations in patients with Rett syndrome].
    Zhang JJ; Bao XH; Cao GN; Jiang SL; Zhu XW; Lu HM; Jia LF; Pan H; Wu XR
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2010 Apr; 27(2):121-4. PubMed ID: 20376788
    [TBL] [Abstract][Full Text] [Related]  

  • 14. MECP2 mutations in sporadic cases of Rett syndrome are almost exclusively of paternal origin.
    Trappe R; Laccone F; Cobilanschi J; Meins M; Huppke P; Hanefeld F; Engel W
    Am J Hum Genet; 2001 May; 68(5):1093-101. PubMed ID: 11309679
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions.
    Laccone F; Huppke P; Hanefeld F; Meins M
    Hum Mutat; 2001 Mar; 17(3):183-90. PubMed ID: 11241840
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Large deletions of the MECP2 gene detected by gene dosage analysis in patients with Rett syndrome.
    Laccone F; Jünemann I; Whatley S; Morgan R; Butler R; Huppke P; Ravine D
    Hum Mutat; 2004 Mar; 23(3):234-44. PubMed ID: 14974082
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. Closely related Swedish Rett Syndrome females - none with MECP2 mutation revealed.
    Xiang F; Stenbom Y; Anvret M; Hagberg B
    Neuropediatrics; 2001 Aug; 32(4):217-8. PubMed ID: 11571704
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Rett syndrome in a boy with a 47,XXY karyotype confirmed by a rare mutation in the MECP2 gene.
    Schwartzman JS; Bernardino A; Nishimura A; Gomes RR; Zatz M
    Neuropediatrics; 2001 Jun; 32(3):162-4. PubMed ID: 11521215
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Histone modifications in Rett syndrome lymphocytes: a preliminary evaluation.
    Kaufmann WE; Jarrar MH; Wang JS; Lee YJ; Reddy S; Bibat G; Naidu S
    Brain Dev; 2005 Aug; 27(5):331-9. PubMed ID: 16023547
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.