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 *

601 related articles for article (PubMed ID: 17217653)

  • 21. 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]  

  • 22. Correlation between clinical severity in patients with Rett syndrome with a p.R168X or p.T158M MECP2 mutation, and the direction and degree of skewing of X-chromosome inactivation.
    Archer H; Evans J; Leonard H; Colvin L; Ravine D; Christodoulou J; Williamson S; Charman T; Bailey ME; Sampson J; de Klerk N; Clarke A
    J Med Genet; 2007 Feb; 44(2):148-52. PubMed ID: 16905679
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Increased skewing of X chromosome inactivation in Rett syndrome patients and their mothers.
    Knudsen GP; Neilson TC; Pedersen J; Kerr A; Schwartz M; Hulten M; Bailey ME; Orstavik KH
    Eur J Hum Genet; 2006 Nov; 14(11):1189-94. PubMed ID: 16823396
    [TBL] [Abstract][Full Text] [Related]  

  • 24. A Rett syndrome patient with a ring X chromosome: further evidence for skewing of X inactivation and heterogeneity in the aetiology of the disease.
    Rosenberg C; Wouters CH; Szuhai K; Dorland R; Pearson P; Poll-The BT; Colombijn RM; Breuning M; Lindhout D
    Eur J Hum Genet; 2001 Mar; 9(3):171-7. PubMed ID: 11313755
    [TBL] [Abstract][Full Text] [Related]  

  • 25. MECP2 mutant allele in a boy with Rett syndrome and his unaffected heterozygous mother.
    Dayer AG; Bottani A; Bouchardy I; Fluss J; Antonarakis SE; Haenggeli CA; Morris MA
    Brain Dev; 2007 Jan; 29(1):47-50. PubMed ID: 16844334
    [TBL] [Abstract][Full Text] [Related]  

  • 26. 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]  

  • 27. 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]  

  • 28. [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]  

  • 29. Increased frequency of extremely skewed X chromosome inactivation in juvenile idiopathic arthritis.
    Uz E; Mustafa C; Topaloglu R; Bilginer Y; Dursun A; Kasapcopur O; Ozen S; Bakkaloglu A; Ozcelik T
    Arthritis Rheum; 2009 Nov; 60(11):3410-2. PubMed ID: 19877028
    [TBL] [Abstract][Full Text] [Related]  

  • 30. X-chromosome inactivation patterns are unbalanced and affect the phenotypic outcome in a mouse model of rett syndrome.
    Young JI; Zoghbi HY
    Am J Hum Genet; 2004 Mar; 74(3):511-20. PubMed ID: 14973779
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Isolation of MECP2-null Rett Syndrome patient hiPS cells and isogenic controls through X-chromosome inactivation.
    Cheung AY; Horvath LM; Grafodatskaya D; Pasceri P; Weksberg R; Hotta A; Carrel L; Ellis J
    Hum Mol Genet; 2011 Jun; 20(11):2103-15. PubMed ID: 21372149
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Skewed X chromosome inactivation and breast and ovarian cancer status: evidence for X-linked modifiers of BRCA1.
    Lose F; Duffy DL; Kay GF; Kedda MA; Spurdle AB; ;
    J Natl Cancer Inst; 2008 Nov; 100(21):1519-29. PubMed ID: 18957670
    [TBL] [Abstract][Full Text] [Related]  

  • 33. 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]  

  • 34. Atypical Rett syndrome in a girl with mosaic triple X and MECP2 variant.
    Takahashi S; Takeguchi R; Kuroda M; Tanaka R
    Mol Genet Genomic Med; 2020 Mar; 8(3):e1122. PubMed ID: 31943886
    [TBL] [Abstract][Full Text] [Related]  

  • 35. 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]  

  • 36. 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]  

  • 37. Molecular Mechanisms of Skewed X-Chromosome Inactivation in Female Hemophilia Patients-Lessons from Wide Genome Analyses.
    Dardik R; Avishai E; Lalezari S; Barg AA; Levy-Mendelovich S; Budnik I; Barel O; Khavkin Y; Kenet G; Livnat T
    Int J Mol Sci; 2021 Aug; 22(16):. PubMed ID: 34445777
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Scrutinizing the molecular, biochemical, and cytogenetic attributes in subjects with Rett syndrome (RTT) and their mothers.
    Meyyazhagan A; Balasubramanian B; Kathannan S; Alagamuthu KK; Easwaran M; Shanmugam S; Pappusamy M; Bhotla HK; Mustaqahamed S; Arumugam VA; Kaul T; Keshavarao S
    Epilepsy Behav; 2020 Oct; 111():107277. PubMed ID: 32653844
    [TBL] [Abstract][Full Text] [Related]  

  • 39. 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]  

  • 40. An explanation for another familial case of Rett syndrome: maternal germline mosaicism.
    Venâncio M; Santos M; Pereira SA; Maciel P; Saraiva JM
    Eur J Hum Genet; 2007 Aug; 15(8):902-4. PubMed ID: 17440498
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 31.