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 *

380 related articles for article (PubMed ID: 16183801)

  • 1. Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients.
    Archer HL; Whatley SD; Evans JC; Ravine D; Huppke P; Kerr A; Bunyan D; Kerr B; Sweeney E; Davies SJ; Reardon W; Horn J; MacDermot KD; Smith RA; Magee A; Donaldson A; Crow Y; Hermon G; Miedzybrodzka Z; Cooper DN; Lazarou L; Butler R; Sampson J; Pilz DT; Laccone F; Clarke AJ
    J Med Genet; 2006 May; 43(5):451-6. PubMed ID: 16183801
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. Large genomic rearrangements in MECP2.
    Ravn K; Nielsen JB; Skjeldal OH; Kerr A; Hulten M; Schwartz M
    Hum Mutat; 2005 Mar; 25(3):324. PubMed ID: 15712379
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. 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]  

  • 11. Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update.
    Philippe C; Villard L; De Roux N; Raynaud M; Bonnefond JP; Pasquier L; Lesca G; Mancini J; Jonveaux P; Moncla A; Chelly J; Bienvenu T
    Eur J Med Genet; 2006; 49(1):9-18. PubMed ID: 16473305
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. 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]  

  • 14. 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]  

  • 15. Comprehensive diagnosis of Rett's syndrome relying on genetic, epigenetic and expression evidence of deficiency of the methyl-CpG-binding protein 2 gene: study of a cohort of Israeli patients.
    Petel-Galil Y; Benteer B; Galil YP; Zeev BB; Greenbaum I; Vecsler M; Goldman B; Lohi H; Minassian BA; Gak E
    J Med Genet; 2006 Dec; 43(12):e56. PubMed ID: 17142618
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Molecular Testing of MECP2 Gene in Rett Syndrome Phenotypes in Indian Girls.
    Lallar M; Rai A; Srivastava P; Mandal K; Gupta N; Kabra M; Phadke SR
    Indian Pediatr; 2018 Jun; 55(6):474-477. PubMed ID: 29428920
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. 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]  

  • 19. [MECP2 gene mutations in twenty-six cases with atypical Rett syndrome].
    Li MR; Pan H; Bao XH; Zhang YZ; Jiang SL; Wu XR
    Zhonghua Er Ke Za Zhi; 2006 Apr; 44(4):285-8. PubMed ID: 16780651
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Diagnostic mutational analysis of MECP2 in Korean patients with Rett syndrome.
    Kim IJ; Kim YJ; Son BH; Nam SO; Kang HC; Kim HD; Yoo MA; Choi OH; Kim CM
    Exp Mol Med; 2006 Apr; 38(2):119-25. PubMed ID: 16672765
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 19.