255 related articles for article (PubMed ID: 15170968)
1. [Mutational analysis of the MECP2 gene by direct sequencing in Hungarian patients with Rett syndrome].
Kárteszi J; Hollódy K; Bene J; Morava E; Hadzsiev K; Czakó M; Melegh B; Kosztolányi G
Orv Hetil; 2004 Apr; 145(17):909-11. PubMed ID: 15170968
[TBL] [Abstract][Full Text] [Related]
2. [Analysis of the most frequent mutations in girls with Rett syndrome].
Rosipal R; Zeman J; Hadac J; Misovicová N; Nevsímalová S; Martásek P
Cas Lek Cesk; 2001 Aug; 140(15):473-6. PubMed ID: 11569169
[TBL] [Abstract][Full Text] [Related]
3. [Mutational analysis of MECP2 gene in Rett syndrome].
Pan H; Wang Y; Meng H; Bao X; Zhang Y; Shen Y; Wu X
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2002 Aug; 19(4):276-80. PubMed ID: 12170461
[TBL] [Abstract][Full Text] [Related]
4. Mutational analysis of the MECP2 gene in Japanese patients with Rett syndrome.
Amano K; Nomura Y; Segawa M; Yamakawa K
J Hum Genet; 2000; 45(4):231-6. PubMed ID: 10944854
[TBL] [Abstract][Full Text] [Related]
5. Preserved speech variant is allelic of classic Rett syndrome.
De Bona C; Zappella M; Hayek G; Meloni I; Vitelli F; Bruttini M; Cusano R; Loffredo P; Longo I; Renieri A
Eur J Hum Genet; 2000 May; 8(5):325-30. PubMed ID: 10854091
[TBL] [Abstract][Full Text] [Related]
6. Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions.
Laccone F; Huppke P; Hanefeld F; Meins M
Hum Mutat; 2001 Mar; 17(3):183-90. PubMed ID: 11241840
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. [Clinical and molecular genetic findings in four girls with Rett syndrome].
Deutscher K; Deutscher J; Bergmann L; Tefs K; Reichwald K; Schuster V
Klin Padiatr; 2002; 214(5):291-4. PubMed ID: 12235545
[TBL] [Abstract][Full Text] [Related]
9. [Developmental disorder in girls due to Rett syndrome].
Pruissen DM; Sinke RJ; Terhal PA; Beemer FA; Peters AC
Ned Tijdschr Geneeskd; 2003 Aug; 147(32):1560-3. PubMed ID: 12942847
[TBL] [Abstract][Full Text] [Related]
10. Associations between MeCP2 mutations, X-chromosome inactivation, and phenotype.
Hoffbuhr KC; Moses LM; Jerdonek MA; Naidu S; Hoffman EP
Ment Retard Dev Disabil Res Rev; 2002; 8(2):99-105. PubMed ID: 12112735
[TBL] [Abstract][Full Text] [Related]
11. Variation in exon 1 coding region and promoter of MECP2 in Rett syndrome and controls.
Evans JC; Archer HL; Whatley SD; Kerr A; Clarke A; Butler R
Eur J Hum Genet; 2005 Jan; 13(1):124-6. PubMed ID: 15367913
[TBL] [Abstract][Full Text] [Related]
12. Five novel frameshift mutations in exon 3 and 4 of the MECP2 gene identified in Rett patients: Consequences for the molecular diagnosis strategy.
Bienvenu T; Souville I; Poirier K; Aquaviva C; Burglen L; Amiel J; Héron B; Kaminska A; Couvert P; Beldjord C; Chelly J
Hum Mutat; 2001 Sep; 18(3):251-2. PubMed ID: 11524737
[TBL] [Abstract][Full Text] [Related]
13. Molecular analysis of Japanese patients with Rett syndrome: Identification of five novel mutations and genotype-phenotype correlation.
Yamada Y; Miura K; Kumagai T; Hayakawa C; Miyazaki S; Matsumoto A; Kurosawa K; Nomura N; Taniguchi H; Sonta SI; Yamanaka T; Wakamatsu N
Hum Mutat; 2001 Sep; 18(3):253. PubMed ID: 11524741
[TBL] [Abstract][Full Text] [Related]
14. MECP2 mutations in Danish patients with Rett syndrome: high frequency of mutations but no consistent correlations with clinical severity or with the X chromosome inactivation pattern.
Nielsen JB; Henriksen KF; Hansen C; Silahtaroglu A; Schwartz M; Tommerup N
Eur J Hum Genet; 2001 Mar; 9(3):178-84. PubMed ID: 11313756
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. Somatic mosaicism for a MECP2 mutation associated with classic Rett syndrome in a boy.
Topçu M; Akyerli C; Sayi A; Törüner GA; Koçoğlu SR; Cimbiş M; Ozçelik T
Eur J Hum Genet; 2002 Jan; 10(1):77-81. PubMed ID: 11896459
[TBL] [Abstract][Full Text] [Related]
18. Novel de novo nonsense mutation of MECP2 in a patient with Rett syndrome.
Kim SJ; Cook EH
Hum Mutat; 2000 Apr; 15(4):382-3. PubMed ID: 10737989
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. 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]
[Next] [New Search]
