BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

358 related articles for article (PubMed ID: 16844334)

  • 1. MECP2 mutant allele in a boy with Rett syndrome and his unaffected heterozygous mother.
    Dayer AG; Bottani A; Bouchardy I; Fluss J; Antonarakis SE; Haenggeli CA; Morris MA
    Brain Dev; 2007 Jan; 29(1):47-50. PubMed ID: 16844334
    [TBL] [Abstract][Full Text] [Related]  

  • 2. X chromosome inactivation in Rett Syndrome and its correlations with MECP2 mutations and phenotype.
    Xinhua Bao ; Shengling Jiang ; Fuying Song ; Hong Pan ; Meirong Li ; Wu XR
    J Child Neurol; 2008 Jan; 23(1):22-5. PubMed ID: 18184939
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Skewed X chromosome inactivation failed to explain the normal phenotype of a carrier female with MECP2 mutation resulting in Rett syndrome.
    Takahashi S; Ohinata J; Makita Y; Suzuki N; Araki A; Sasaki A; Murono K; Tanaka H; Fujieda K
    Clin Genet; 2008 Mar; 73(3):257-61. PubMed ID: 18190595
    [TBL] [Abstract][Full Text] [Related]  

  • 4. MECP2 mutations in Serbian Rett syndrome patients.
    Djarmati A; Dobricić V; Kecmanović M; Marsh P; Jancić-Stefanović J; Klein C; Djurić M; Romac S
    Acta Neurol Scand; 2007 Dec; 116(6):413-9. PubMed ID: 17986102
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. 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]  

  • 7. The story of Rett syndrome: from clinic to neurobiology.
    Chahrour M; Zoghbi HY
    Neuron; 2007 Nov; 56(3):422-37. PubMed ID: 17988628
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Stereotypies in Rett syndrome: analysis of 83 patients with and without detected MECP2 mutations.
    Temudo T; Oliveira P; Santos M; Dias K; Vieira J; Moreira A; Calado E; Carrilho I; Oliveira G; Levy A; Barbot C; Fonseca M; Cabral A; Dias A; Cabral P; Monteiro J; Borges L; Gomes R; Barbosa C; Mira G; Eusébio F; Santos M; Sequeiros J; Maciel P
    Neurology; 2007 Apr; 68(15):1183-7. PubMed ID: 17420401
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Mutations in the MECP2 gene are not a major cause of Rett syndrome-like or related neurodevelopmental phenotype in male patients.
    Santos M; Temudo T; Kay T; Carrilho I; Medeira A; Cabral H; Gomes R; Lourenço MT; Venâncio M; Calado E; Moreira A; Oliveira G; Maciel P
    J Child Neurol; 2009 Jan; 24(1):49-55. PubMed ID: 19168818
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Somatic mosaicism for Y120X mutation in the MECP2 gene causes atypical Rett syndrome in a male.
    Pieras JI; Muñoz-Cabello B; Borrego S; Marcos I; Sanchez J; Madruga M; Antiñolo G
    Brain Dev; 2011 Aug; 33(7):608-11. PubMed ID: 20970936
    [TBL] [Abstract][Full Text] [Related]  

  • 11. An explanation for another familial case of Rett syndrome: maternal germline mosaicism.
    Venâncio M; Santos M; Pereira SA; Maciel P; Saraiva JM
    Eur J Hum Genet; 2007 Aug; 15(8):902-4. PubMed ID: 17440498
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Rett syndrome: prevalence among Chinese and a comparison of MECP2 mutations of classic Rett syndrome with other neurodevelopmental disorders.
    Wong VC; Li SY
    J Child Neurol; 2007 Dec; 22(12):1397-400. PubMed ID: 18174559
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. Novel non-identical MECP2 mutations in Rett syndrome family: a rare presentation.
    Khajuria R; Gupta N; Sapra S; Gulati S; Ghosh M; Kalra V; Kabra M
    Brain Dev; 2012 Jan; 34(1):28-31. PubMed ID: 21300488
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Delineation of large deletions of the MECP2 gene in Rett syndrome patients, including a familial case with a male proband.
    Hardwick SA; Reuter K; Williamson SL; Vasudevan V; Donald J; Slater K; Bennetts B; Bebbington A; Leonard H; Williams SR; Smith RL; Cloosterman D; Christodoulou J
    Eur J Hum Genet; 2007 Dec; 15(12):1218-29. PubMed ID: 17712354
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Clinical profiles of four patients with Rett syndrome carrying a novel exon 1 mutation or genomic rearrangement in the MECP2 gene.
    Bartholdi D; Klein A; Weissert M; Koenig N; Baumer A; Boltshauser E; Schinzel A; Berger W; Mátyás G
    Clin Genet; 2006 Apr; 69(4):319-26. PubMed ID: 16630165
    [TBL] [Abstract][Full Text] [Related]  

  • 17. APOE epsilon4: a potential modulation factor in Rett syndrome.
    Zahorakova D; Jachymova M; Kemlink D; Baxova A; Martasek P
    J Child Neurol; 2010 May; 25(5):546-50. PubMed ID: 20139413
    [TBL] [Abstract][Full Text] [Related]  

  • 18. MeCP2 dysfunction in Rett syndrome and related disorders.
    Moretti P; Zoghbi HY
    Curr Opin Genet Dev; 2006 Jun; 16(3):276-81. PubMed ID: 16647848
    [TBL] [Abstract][Full Text] [Related]  

  • 19. [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]  

  • 20. Detection of heterozygous deletions and duplications in the MECP2 gene in Rett syndrome by Robust Dosage PCR (RD-PCR).
    Shi J; Shibayama A; Liu Q; Nguyen VQ; Feng J; Santos M; Temudo T; Maciel P; Sommer SS
    Hum Mutat; 2005 May; 25(5):505. PubMed ID: 15841480
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 18.