379 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]
