BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

383 related articles for article (PubMed ID: 18174548)

  • 41. Gene symbol: MECP2. Disease: Rett syndrome.
    Conforti FL; Mazzei R; Patitucci A; Magariello A; Sprovieri T; Ungaro C; Gabriele AL; Muglia M; Del Giudice E; Quattrone A
    Hum Genet; 2006 Jul; 119(6):675. PubMed ID: 17128467
    [No Abstract]   [Full Text] [Related]  

  • 42. Mutational analysis of the MECP2 gene in Tunisian patients with Rett syndrome: a novel double mutation.
    Fendri-Kriaa N; Mkaouar-Rebai E; Moalla D; Belguith N; Louhichi N; Zemni R; Slama F; Triki C; Fakhfakh F;
    J Child Neurol; 2010 Aug; 25(8):1042-6. PubMed ID: 20631224
    [TBL] [Abstract][Full Text] [Related]  

  • 43. Gene symbol: MECP2. Disease: Rett syndrome.
    Conforti FL; Mazzei R; Sprovieri T; Ungaro C; Patitucci A; Magariello A; Gabriele AL; Bravaccio C; Muglia M; Quattrone A
    Hum Genet; 2006 Jul; 119(6):676. PubMed ID: 17128468
    [No Abstract]   [Full Text] [Related]  

  • 44. Male Rett phenotypes in T158M and R294X MeCP2-mutations.
    Lundvall M; Samuelsson L; Kyllerman M
    Neuropediatrics; 2006 Oct; 37(5):296-301. PubMed ID: 17236109
    [TBL] [Abstract][Full Text] [Related]  

  • 45. 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]  

  • 46. 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]  

  • 47. Netrin G1 mutations are an uncommon cause of atypical Rett syndrome with or without epilepsy.
    Nectoux J; Girard B; Bahi-Buisson N; Prieur F; Afenjar A; Rosas-Vargas H; Chelly J; Bienvenu T
    Pediatr Neurol; 2007 Oct; 37(4):270-4. PubMed ID: 17903671
    [TBL] [Abstract][Full Text] [Related]  

  • 48. Novel human pathological mutations. Gene symbol: MECP2. Disease: Rett Syndrome.
    Khajuria R; Sapra S; Ghosh M; Gupta N; Gulati S; Kalra V; Kabra M
    Hum Genet; 2010 Jan; 127(1):118. PubMed ID: 20108430
    [No Abstract]   [Full Text] [Related]  

  • 49. Novel human pathological mutations. Gene symbol: MECP2. Disease: Rett Syndrome.
    Khajuria R; Sapra S; Ghosh M; Gupta N; Ghulati S; Kalra V; Kabra M
    Hum Genet; 2010 Jan; 127(1):117-8. PubMed ID: 20108394
    [No Abstract]   [Full Text] [Related]  

  • 50. A patient with classic Rett syndrome with a novel mutation in MECP2 exon 1.
    Chunshu Y; Endoh K; Soutome M; Kawamura R; Kubota T
    Clin Genet; 2006 Dec; 70(6):530-1. PubMed ID: 17101000
    [No Abstract]   [Full Text] [Related]  

  • 51. Molecular diagnosis of Rett syndrome.
    Huppke P; Gärtner J
    J Child Neurol; 2005 Sep; 20(9):732-6. PubMed ID: 16225827
    [TBL] [Abstract][Full Text] [Related]  

  • 52. A thorough MECP2 mutation analysis.
    Ravn K; Nielsen JB
    Clin Genet; 2008 Dec; 74(6):574. PubMed ID: 18983638
    [No Abstract]   [Full Text] [Related]  

  • 53. MeCP2 Rett mutations affect large scale chromatin organization.
    Agarwal N; Becker A; Jost KL; Haase S; Thakur BK; Brero A; Hardt T; Kudo S; Leonhardt H; Cardoso MC
    Hum Mol Genet; 2011 Nov; 20(21):4187-95. PubMed ID: 21831886
    [TBL] [Abstract][Full Text] [Related]  

  • 54. The story of Rett syndrome: from clinic to neurobiology.
    Chahrour M; Zoghbi HY
    Neuron; 2007 Nov; 56(3):422-37. PubMed ID: 17988628
    [TBL] [Abstract][Full Text] [Related]  

  • 55. 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]  

  • 56. 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]  

  • 57. Methyl-CpG-binding protein 2 (MECP2) gene mutations in an Italian sample of patients with pervasive developmental disorder and mental retardation.
    Parmeggiani A; Tedde MR; Arbizzani A; Posar A; Scaduto MC; Santucci M; Sangiorgi S
    J Child Neurol; 2009 Jun; 24(6):772-4. PubMed ID: 19189931
    [TBL] [Abstract][Full Text] [Related]  

  • 58. Novel human pathological mutations. Gene symbol: MECP2. Disease: Rett Syndrome.
    Khajuria R; Sapra S; Ghosh M; Gupta N; Gulati S; Kalra V; Kabra M
    Hum Genet; 2010 Jan; 127(1):117. PubMed ID: 20108429
    [No Abstract]   [Full Text] [Related]  

  • 59. Molecular genetics of Rett syndrome: when DNA methylation goes unrecognized.
    Bienvenu T; Chelly J
    Nat Rev Genet; 2006 Jun; 7(6):415-26. PubMed ID: 16708070
    [TBL] [Abstract][Full Text] [Related]  

  • 60. Early progressive encephalopathy in boys and MECP2 mutations.
    Kankirawatana P; Leonard H; Ellaway C; Scurlock J; Mansour A; Makris CM; Dure LS; Friez M; Lane J; Kiraly-Borri C; Fabian V; Davis M; Jackson J; Christodoulou J; Kaufmann WE; Ravine D; Percy AK
    Neurology; 2006 Jul; 67(1):164-6. PubMed ID: 16832102
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 20.