297 related articles for article (PubMed ID: 29322350)
21. [Genetic features and mechanism of Rett syndrome in Chinese population].
Zhang X; Zhao Y; Bao X; Zhang J; Cao G; Wu X
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2014 Feb; 31(1):1-5. PubMed ID: 24510551
[TBL] [Abstract][Full Text] [Related]
22. Rett-like phenotypes: expanding the genetic heterogeneity to the KCNA2 gene and first familial case of CDKL5-related disease.
Allou L; Julia S; Amsallem D; El Chehadeh S; Lambert L; Thevenon J; Duffourd Y; Saunier A; Bouquet P; Pere S; Moustaïne A; Ruaud L; Roth V; Jonveaux P; Philippe C
Clin Genet; 2017 Mar; 91(3):431-440. PubMed ID: 27062609
[TBL] [Abstract][Full Text] [Related]
23. Phenotypic variability in Rett syndrome associated with FOXG1 mutations in females.
Philippe C; Amsallem D; Francannet C; Lambert L; Saunier A; Verneau F; Jonveaux P
J Med Genet; 2010 Jan; 47(1):59-65. PubMed ID: 19564653
[TBL] [Abstract][Full Text] [Related]
24. 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]
25. 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]
26. Role of DNA Methyl-CpG-Binding Protein MeCP2 in Rett Syndrome Pathobiology and Mechanism of Disease.
Pejhan S; Rastegar M
Biomolecules; 2021 Jan; 11(1):. PubMed ID: 33429932
[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. 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]
29. 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]
30. [Rett Syndrome: MECP2 gene molecular analysis in Chilean patients].
Aron W C; Rauch L G; Benavides G F; Repetto L MG
Rev Chil Pediatr; 2019 Apr; 90(2):152-156. PubMed ID: 31095231
[TBL] [Abstract][Full Text] [Related]
31. Unusual double mutation in MECP2 and CDKL5 genes in Rett-like syndrome: Correlation with phenotype and genes expression.
Jdila MB; Triki CC; Ghorbel R; Bouchalla W; Ncir SB; Kamoun F; Fakhfakh F
Clin Chim Acta; 2020 Sep; 508():287-294. PubMed ID: 32445745
[TBL] [Abstract][Full Text] [Related]
32. Genetic and Protein Network Underlying the Convergence of Rett-Syndrome-like (RTT-L) Phenotype in Neurodevelopmental Disorders.
Frankel E; Podder A; Sharifi M; Pillai R; Belnap N; Ramsey K; Dodson J; Venugopal P; Brzezinski M; Llaci L; Gerald B; Mills G; Sanchez-Castillo M; Balak CD; Szelinger S; Jepsen WM; Siniard AL; Richholt R; Naymik M; Schrauwen I; Craig DW; Piras IS; Huentelman MJ; Schork NJ; Narayanan V; Rangasamy S
Cells; 2023 May; 12(10):. PubMed ID: 37408271
[TBL] [Abstract][Full Text] [Related]
33. Clinical Research on Rett Syndrome: Central Hypoxemia and Hypokalemic Metabolic Alkalosis.
Wang W; Li H; Xiao M; Mu M; Xu H; Wang B
Altern Ther Health Med; 2024 Jan; 30(1):167-171. PubMed ID: 37773669
[TBL] [Abstract][Full Text] [Related]
34. Novel FOXG1 mutations in Chinese patients with Rett syndrome or Rett-like mental retardation.
Zhang Q; Wang J; Li J; Bao X; Zhao Y; Zhang X; Wei L; Wu X
BMC Med Genet; 2017 Aug; 18(1):96. PubMed ID: 28851325
[TBL] [Abstract][Full Text] [Related]
35. [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]
36. Increased levels of 4HNE-protein plasma adducts in Rett syndrome.
Pecorelli A; Ciccoli L; Signorini C; Leoncini S; Giardini A; D'Esposito M; Filosa S; Hayek J; De Felice C; Valacchi G
Clin Biochem; 2011 Apr; 44(5-6):368-71. PubMed ID: 21276437
[TBL] [Abstract][Full Text] [Related]
37. 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]
38. 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]
39. 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]
40. 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]
[Previous] [Next] [New Search]