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 *

255 related articles for article (PubMed ID: 11738872)

  • 1. Cytogenetic and molecular-cytogenetic studies of Rett syndrome (RTT): a retrospective analysis of a Russian cohort of RTT patients (the investigation of 57 girls and three boys).
    Vorsanova SG; Yurov YB; Ulas VY; Demidova IA; Sharonin VO; Kolotii AD; Gorbatchevskaia NL; Beresheva AK; Soloviev IV
    Brain Dev; 2001 Dec; 23 Suppl 1():S196-201. PubMed ID: 11738872
    [TBL] [Abstract][Full Text] [Related]  

  • 2. [Genotype-phenotype correlations in Rett syndrome: the study of Russian cohort of patients].
    Vorsanova SG; Ulas VIu; Iurov IuB; Giovanucci-Uzielli ML; Demidova IA; Gianti L; Villard L; Iurov IIu; Beresheva AK; Novikov PV
    Zh Nevrol Psikhiatr Im S S Korsakova; 2002; 102(10):23-9. PubMed ID: 12449561
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. 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]  

  • 5. X-Chromosome inactivation ratios affect wild-type MeCP2 expression within mosaic Rett syndrome and Mecp2-/+ mouse brain.
    Braunschweig D; Simcox T; Samaco RC; LaSalle JM
    Hum Mol Genet; 2004 Jun; 13(12):1275-86. PubMed ID: 15115765
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. Segregation of a totally skewed pattern of X chromosome inactivation in four familial cases of Rett syndrome without MECP2 mutation: implications for the disease.
    Villard L; Lévy N; Xiang F; Kpebe A; Labelle V; Chevillard C; Zhang Z; Schwartz CE; Tardieu M; Chelly J; Anvret M; Fontès M
    J Med Genet; 2001 Jul; 38(7):435-42. PubMed ID: 11432961
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Mutation screening in Rett syndrome patients.
    Xiang F; Buervenich S; Nicolao P; Bailey ME; Zhang Z; Anvret M
    J Med Genet; 2000 Apr; 37(4):250-5. PubMed ID: 10745042
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. 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]  

  • 11. Molecular-cytogenetic investigation of skewed chromosome X inactivation in Rett syndrome.
    Yurov YB; Vorsanova SG; Kolotii AD; Iourov IY
    Brain Dev; 2001 Dec; 23 Suppl 1():S214-7. PubMed ID: 11738875
    [TBL] [Abstract][Full Text] [Related]  

  • 12. [Epigenetic study of Rett's syndrome as an adequate model for autistic disorders].
    Iurov IIu; Vorsanova SG; Voinova-Ulas VIu; Villard L; Demidova IA; Giunti L; Guivabyccu-Uzielli ML; Budilov AV; Beresheva AK; Novikov PV; Iurov IuV
    Zh Nevrol Psikhiatr Im S S Korsakova; 2005; 105(7):4-11. PubMed ID: 16117140
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Mutations in the gene encoding methyl-CpG-binding protein 2 cause Rett syndrome.
    Van den Veyver IB; Zoghbi HY
    Brain Dev; 2001 Dec; 23 Suppl 1():S147-51. PubMed ID: 11738862
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Classic Rett syndrome in a boy as a result of somatic mosaicism for a MECP2 mutation.
    Armstrong J; Pineda M; Aibar E; Geán E; Monrós E
    Ann Neurol; 2001 Nov; 50(5):692. PubMed ID: 11706982
    [No Abstract]   [Full Text] [Related]  

  • 15. 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]  

  • 16. FISH analysis of replication and transcription of chromosome X loci: new approach for genetic analysis of Rett syndrome.
    Vorsanova SG; Yurov YB; Kolotii AD; Soloviev IV
    Brain Dev; 2001 Dec; 23 Suppl 1():S191-5. PubMed ID: 11738871
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A case of multiple congenital anomalies in association with Rett syndrome confirmed by MECP2 mutation screening.
    Ellaway CJ; Badawi N; Raffaele L; Christodoulou J; Leonard H
    Clin Dysmorphol; 2001 Jul; 10(3):185-8. PubMed ID: 11446411
    [TBL] [Abstract][Full Text] [Related]  

  • 18. The role of X-chromosome inactivation in the manifestation of Rett syndrome.
    Takagi N
    Brain Dev; 2001 Dec; 23 Suppl 1():S182-5. PubMed ID: 11738869
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. 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]  

    [Next]    [New Search]
    of 13.