BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

254 related articles for article (PubMed ID: 15712379)

  • 21. Congenital variant of Rett syndrome due to an intragenic large deletion in MECP2.
    Kobayashi Y; Ohashi T; Akasaka N; Tohyama J
    Brain Dev; 2012 Aug; 34(7):601-4. PubMed ID: 22001500
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Deleterious mutations in exon 1 of MECP2 in Rett syndrome.
    Quenard A; Yilmaz S; Fontaine H; Bienvenu T; Moncla A; des Portes V; Rivier F; Mathieu M; Raux G; Jonveaux P; Philippe C
    Eur J Med Genet; 2006; 49(4):313-22. PubMed ID: 16829352
    [TBL] [Abstract][Full Text] [Related]  

  • 23. 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]  

  • 24. MECP2 mutations and clinical correlations in Greek children with Rett syndrome and associated neurodevelopmental disorders.
    Psoni S; Sofocleous C; Traeger-Synodinos J; Kitsiou-Tzeli S; Kanavakis E; Fryssira-Kanioura H
    Brain Dev; 2012 Jun; 34(6):487-95. PubMed ID: 21982064
    [TBL] [Abstract][Full Text] [Related]  

  • 25. The p.Val66Met polymorphism in the BDNF gene protects against early seizures in Rett syndrome.
    Nectoux J; Bahi-Buisson N; Guellec I; Coste J; De Roux N; Rosas H; Tardieu M; Chelly J; Bienvenu T
    Neurology; 2008 May; 70(22 Pt 2):2145-51. PubMed ID: 18434641
    [TBL] [Abstract][Full Text] [Related]  

  • 26. 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]  

  • 27. Phenotypic and genotypic variability in four males with MECP2 gene sequence aberrations including a novel deletion.
    Psoni S; Sofocleous C; Traeger-Synodinos J; Kitsiou-Tzeli S; Kanavakis E; Fryssira-Kanioura H
    Pediatr Res; 2010 May; 67(5):551-6. PubMed ID: 20098342
    [TBL] [Abstract][Full Text] [Related]  

  • 28. 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]  

  • 29. MECP2 mutations are an infrequent cause of mental retardation associated with neurological problems in male patients.
    Moog U; Van Roozendaal K; Smeets E; Tserpelis D; Devriendt K; Buggenhout GV; Frijns JP; Schrander-Stumpel C
    Brain Dev; 2006 Jun; 28(5):305-10. PubMed ID: 16376510
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Characterization of large deletions of the MECP2 gene in Rett syndrome patients by gene dosage analysis.
    Vidal S; Pascual-Alonso A; Rabaza-Gairí M; Gerotina E; Brandi N; Pacheco P; Xiol C; Pineda M; ; Armstrong J
    Mol Genet Genomic Med; 2019 Aug; 7(8):e793. PubMed ID: 31206249
    [TBL] [Abstract][Full Text] [Related]  

  • 31. 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]  

  • 32. [Application of long range polymerase chain reaction and DNA direct sequencing in diagnosis of Rett syndrome].
    Li MR; Pan H; Bao XH; Cao GN; Wu XR
    Zhonghua Er Ke Za Zhi; 2007 Aug; 45(8):579-82. PubMed ID: 18021529
    [TBL] [Abstract][Full Text] [Related]  

  • 33. MECP2 mutations in Malaysian Rett syndrome patients.
    Fong CB; Thong MK; Sam CK; Mohamed Noor MN; Ariffin R
    Singapore Med J; 2009 May; 50(5):529-33. PubMed ID: 19495527
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Multiplex ligation-dependent probe amplification (MLPA) detects large deletions in the MECP2 gene of Swedish Rett syndrome patients.
    Erlandson A; Samuelsson L; Hagberg B; Kyllerman M; Vujic M; Wahlström J
    Genet Test; 2003; 7(4):329-32. PubMed ID: 15000811
    [TBL] [Abstract][Full Text] [Related]  

  • 35. 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]  

  • 36. Screening for MECP2 mutations in Spanish patients with an unexplained mental retardation.
    Tejada MI; Peñagarikano O; Rodriguez-Revenga L; Martinez-Bouzas C; García B; Bádenas C; Guitart M; Minguez M; García-Alegría E; Sanz-Parra A; Beristain E; Milá M
    Clin Genet; 2006 Aug; 70(2):140-4. PubMed ID: 16879196
    [TBL] [Abstract][Full Text] [Related]  

  • 37. MECP2 mutations in Czech patients with Rett syndrome and Rett-like phenotypes: novel mutations, genotype-phenotype correlations and validation of high-resolution melting analysis for mutation scanning.
    Zahorakova D; Lelkova P; Gregor V; Magner M; Zeman J; Martasek P
    J Hum Genet; 2016 Jul; 61(7):617-25. PubMed ID: 26984561
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Altered methylation pattern of the G6 PD promoter in Rett syndrome.
    Huppke P; Bohlander S; Krämer N; Laccone F; Hanefeld F
    Neuropediatrics; 2002 Apr; 33(2):105-8. PubMed ID: 12075494
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes.
    Amir RE; Van den Veyver IB; Schultz R; Malicki DM; Tran CQ; Dahle EJ; Philippi A; Timar L; Percy AK; Motil KJ; Lichtarge O; Smith EO; Glaze DG; Zoghbi HY
    Ann Neurol; 2000 May; 47(5):670-9. PubMed ID: 10805343
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Methyl CpG-binding protein 2 (a mutation of which causes Rett syndrome) directly regulates insulin-like growth factor binding protein 3 in mouse and human brains.
    Itoh M; Ide S; Takashima S; Kudo S; Nomura Y; Segawa M; Kubota T; Mori H; Tanaka S; Horie H; Tanabe Y; Goto Y
    J Neuropathol Exp Neurol; 2007 Feb; 66(2):117-23. PubMed ID: 17278996
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 13.