BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

385 related articles for article (PubMed ID: 23400946)

  • 1. Mutational analysis of methyl-CpG binding protein 2 (MECP2) gene in Indian cases of Rett syndrome.
    Das DK; Udani V; Sanghavi D; Adhia R; Maitra A
    J Clin Lab Anal; 2013 Mar; 27(2):137-42. PubMed ID: 23400946
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Spectrum of MECP2 gene mutations in a cohort of Indian patients with Rett syndrome: report of two novel mutations.
    Das DK; Raha S; Sanghavi D; Maitra A; Udani V
    Gene; 2013 Feb; 515(1):78-83. PubMed ID: 23262346
    [TBL] [Abstract][Full Text] [Related]  

  • 3. [Methyl-CpG-binding protein 2 gene and CDKL5 gene mutation in patients with Rett syndrome: analysis of 177 Chinese pediatric patients].
    Li MR; Pan H; Bao XH; Zhu XW; Cao GN; Zhang YZ; Wu XR
    Zhonghua Yi Xue Za Zhi; 2009 Feb; 89(4):224-9. PubMed ID: 19552836
    [TBL] [Abstract][Full Text] [Related]  

  • 4. [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]  

  • 5. 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]  

  • 6. [Mutation spectrum and genotype-phenotype correlation of MECP2 in patients with Rett syndrome].
    Kondo I; Yamagata H
    No To Hattatsu; 2002 May; 34(3):219-23. PubMed ID: 12030010
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome.
    Li MR; Pan H; Bao XH; Zhang YZ; Wu XR
    J Hum Genet; 2007; 52(1):38-47. PubMed ID: 17089071
    [TBL] [Abstract][Full Text] [Related]  

  • 9.
    Anitha A; Poovathinal SA; Viswambharan V; Thanseem I; Iype M; Anoop U; Sumitha PS; Parakkal R; Vasu MM
    Neurol India; 2022; 70(1):249-253. PubMed ID: 35263890
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. Molecular characteristics of Chinese patients with Rett syndrome.
    Zhang X; Bao X; Zhang J; Zhao Y; Cao G; Pan H; Zhang J; Wei L; Wu X
    Eur J Med Genet; 2012 Dec; 55(12):677-81. PubMed ID: 22982301
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. Spectrum of MECP2 mutations in Vietnamese patients with RETT syndrome.
    Le Thi Thanh H; Do Thi Diem T; Duy CV; Thanh HLT; Phuong HBT; Thanh LN
    BMC Med Genet; 2018 Aug; 19(1):137. PubMed ID: 30081849
    [TBL] [Abstract][Full Text] [Related]  

  • 14. [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]  

  • 15. Genotype-phenotype relationship among Egyptian children with Rett syndrome.
    Mansour L; El Sobky E; Mohamed SM; Marzouk H; Tarek LA
    J Egypt Public Health Assoc; 2015 Sep; 90(3):133-7. PubMed ID: 26544843
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. 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]  

  • 18. MECP2 mutation spectrum and its clinical characteristics in a Chinese cohort.
    Wen Y; Wang J; Zhang Q; Chen Y; Wu X; Bao X
    Clin Genet; 2020 Sep; 98(3):240-250. PubMed ID: 32472557
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Methyl-CpG-binding protein 2 gene mutations and its association with epilepsy: a single centre study from the Indian subcontinent.
    Kamdar P; Thomas M; Yoganathan S; Muthusamy K; Koshy B; Philip Oommen S; Aaron R; Barney A; Susan C Abraham S; Danda S
    J Genet; 2020; 99():. PubMed ID: 33168794
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutations.
    Hadzsiev K; Polgar N; Bene J; Komlosi K; Karteszi J; Hollody K; Kosztolanyi G; Renieri A; Melegh B
    J Hum Genet; 2011 Mar; 56(3):183-7. PubMed ID: 21160487
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 20.