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 *

189 related articles for article (PubMed ID: 12447790)

  • 1. [Rett's syndrome. Clinical features and advances in genetics].
    Temudo T; Maciel P
    Rev Neurol; 2002 Feb; 34 Suppl 1():S54-8. PubMed ID: 12447790
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. [Developmental disorder in girls due to Rett syndrome].
    Pruissen DM; Sinke RJ; Terhal PA; Beemer FA; Peters AC
    Ned Tijdschr Geneeskd; 2003 Aug; 147(32):1560-3. PubMed ID: 12942847
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Dimensional phenotypic analysis and functional categorisation of mutations reveal novel genotype-phenotype associations in Rett syndrome.
    Charman T; Neilson TC; Mash V; Archer H; Gardiner MT; Knudsen GP; McDonnell A; Perry J; Whatley SD; Bunyan DJ; Ravn K; Mount RH; Hastings RP; Hulten M; Orstavik KH; Reilly S; Cass H; Clarke A; Kerr AM; Bailey ME
    Eur J Hum Genet; 2005 Oct; 13(10):1121-30. PubMed ID: 16077736
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Another patient with MECP2 mutation without classic Rett syndrome phenotype.
    Milani D; Pantaleoni C; D'Arrigo S; Selicorni A; Riva D
    Pediatr Neurol; 2005 May; 32(5):355-7. PubMed ID: 15866439
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Gross rearrangements in the MECP2 gene in three patients with Rett syndrome: implications for routine diagnosis of Rett syndrome.
    Schollen E; Smeets E; Deflem E; Fryns JP; Matthijs G
    Hum Mutat; 2003 Aug; 22(2):116-20. PubMed ID: 12872251
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Influence of mutation type and location on phenotype in 123 patients with Rett syndrome.
    Huppke P; Held M; Hanefeld F; Engel W; Laccone F
    Neuropediatrics; 2002 Apr; 33(2):63-8. PubMed ID: 12075485
    [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. 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]  

  • 10. [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]  

  • 11. Identification of a family with nonspecific mental retardation (MRX79) with the A140V mutation in the MECP2 gene: is there a need for routine screening?
    Winnepenninckx B; Errijgers V; Hayez-Delatte F; Reyniers E; Frank Kooy R
    Hum Mutat; 2002 Oct; 20(4):249-52. PubMed ID: 12325019
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Rett syndrome: of girls and mice--lessons for regression in autism.
    Glaze DG
    Ment Retard Dev Disabil Res Rev; 2004; 10(2):154-8. PubMed ID: 15362175
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Rett syndrome: a prototypical neurodevelopmental disorder.
    Neul JL; Zoghbi HY
    Neuroscientist; 2004 Apr; 10(2):118-28. PubMed ID: 15070486
    [TBL] [Abstract][Full Text] [Related]  

  • 14. MeCP2 in neurons: closing in on the causes of Rett syndrome.
    Caballero IM; Hendrich B
    Hum Mol Genet; 2005 Apr; 14 Spec No 1():R19-26. PubMed ID: 15809268
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Classic Rett syndrome in a boy with R133C mutation of MECP2.
    Masuyama T; Matsuo M; Jing JJ; Tabara Y; Kitsuki K; Yamagata H; Kan Y; Miki T; Ishii K; Kondo I
    Brain Dev; 2005 Sep; 27(6):439-42. PubMed ID: 16122633
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. Genetic basis of Rett syndrome.
    Van den Veyver IB; Zoghbi HY
    Ment Retard Dev Disabil Res Rev; 2002; 8(2):82-6. PubMed ID: 12112732
    [TBL] [Abstract][Full Text] [Related]  

  • 18. MECP2 mutations in Israel: implications for molecular analysis, genetic counseling, and prenatal diagnosis in Rett syndrome.
    Yaron Y; Ben Zeev B; Shomrat R; Bercovich D; Naiman T; Orr-Urtreger A
    Hum Mutat; 2002 Oct; 20(4):323-4. PubMed ID: 12325033
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. Variation in exon 1 coding region and promoter of MECP2 in Rett syndrome and controls.
    Evans JC; Archer HL; Whatley SD; Kerr A; Clarke A; Butler R
    Eur J Hum Genet; 2005 Jan; 13(1):124-6. PubMed ID: 15367913
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.