252 related articles for article (PubMed ID: 21934280)
1. De novo interstitial triplication of MECP2 in a girl with neurodevelopmental disorder and random X chromosome inactivation.
Mayo S; Monfort S; Roselló M; Orellana C; Oltra S; Armstrong J; Català V; Martínez F
Cytogenet Genome Res; 2011; 135(2):93-101. PubMed ID: 21934280
[TBL] [Abstract][Full Text] [Related]
2. De novo duplication of MECP2 in a girl with mental retardation and no obvious dysmorphic features.
Makrythanasis P; Moix I; Gimelli S; Fluss J; Aliferis K; Antonarakis SE; Morris MA; Béna F; Bottani A
Clin Genet; 2010 Aug; 78(2):175-80. PubMed ID: 20236124
[TBL] [Abstract][Full Text] [Related]
3. Recurrent infections, hypotonia, and mental retardation caused by duplication of MECP2 and adjacent region in Xq28.
Friez MJ; Jones JR; Clarkson K; Lubs H; Abuelo D; Bier JA; Pai S; Simensen R; Williams C; Giampietro PF; Schwartz CE; Stevenson RE
Pediatrics; 2006 Dec; 118(6):e1687-95. PubMed ID: 17088400
[TBL] [Abstract][Full Text] [Related]
4. MECP2 duplication syndrome in both genders.
Shimada S; Okamoto N; Ito M; Arai Y; Momosaki K; Togawa M; Maegaki Y; Sugawara M; Shimojima K; Osawa M; Yamamoto T
Brain Dev; 2013 May; 35(5):411-9. PubMed ID: 22877836
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy.
Lugtenberg D; Kleefstra T; Oudakker AR; Nillesen WM; Yntema HG; Tzschach A; Raynaud M; Rating D; Journel H; Chelly J; Goizet C; Lacombe D; Pedespan JM; Echenne B; Tariverdian G; O'Rourke D; King MD; Green A; van Kogelenberg M; Van Esch H; Gecz J; Hamel BC; van Bokhoven H; de Brouwer AP
Eur J Hum Genet; 2009 Apr; 17(4):444-53. PubMed ID: 18985075
[TBL] [Abstract][Full Text] [Related]
7. Chromosome Xq28 duplication encompassing MECP2: Clinical and molecular analysis of 16 new patients from 10 families in China.
Yi Z; Pan H; Li L; Wu H; Wang S; Ma Y; Qi Y
Eur J Med Genet; 2016 Jun; 59(6-7):347-53. PubMed ID: 27180140
[TBL] [Abstract][Full Text] [Related]
8. [Advance in research on MECP2 [corrected] duplication syndrome].
Zhang Q; Bao X
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2015 Jun; 32(3):426-9. PubMed ID: 26037367
[TBL] [Abstract][Full Text] [Related]
9. De novo MECP2 duplication derived from paternal germ line result in dysmorphism and developmental delay.
Lin DS; Chuang TP; Chiang MF; Ho CS; Hsiao CD; Huang YW; Wu TY; Wu JY; Chen YT; Chen TC; Li LH
Gene; 2014 Jan; 533(1):78-85. PubMed ID: 24129071
[TBL] [Abstract][Full Text] [Related]
10. MECP2 duplication: possible cause of severe phenotype in females.
Scott Schwoerer J; Laffin J; Haun J; Raca G; Friez MJ; Giampietro PF
Am J Med Genet A; 2014 Apr; 164A(4):1029-34. PubMed ID: 24458799
[TBL] [Abstract][Full Text] [Related]
11. MECP2 triplication in 3 brothers - a rarely described cause of familial neurological regression in boys.
Tang SS; Fernandez D; Lazarou LP; Singh R; Fallon P
Eur J Paediatr Neurol; 2012 Mar; 16(2):209-12. PubMed ID: 21821449
[TBL] [Abstract][Full Text] [Related]
12. Skewed X chromosome inactivation failed to explain the normal phenotype of a carrier female with MECP2 mutation resulting in Rett syndrome.
Takahashi S; Ohinata J; Makita Y; Suzuki N; Araki A; Sasaki A; Murono K; Tanaka H; Fujieda K
Clin Genet; 2008 Mar; 73(3):257-61. PubMed ID: 18190595
[TBL] [Abstract][Full Text] [Related]
13. Clinical and molecular genetic characterization of familial MECP2 duplication syndrome in a Chinese family.
Li X; Xie H; Chen Q; Yu X; Yi Z; Li E; Zhang T; Wang J; Zhong J; Chen X
BMC Med Genet; 2017 Nov; 18(1):131. PubMed ID: 29141583
[TBL] [Abstract][Full Text] [Related]
14. De novo MECP2 duplication in two females with random X-inactivation and moderate mental retardation.
Grasshoff U; Bonin M; Goehring I; Ekici A; Dufke A; Cremer K; Wagner N; Rossier E; Jauch A; Walter M; Bauer C; Bauer P; Horber K; Beck-Woedl S; Wieczorek D
Eur J Hum Genet; 2011 May; 19(5):507-12. PubMed ID: 21326285
[TBL] [Abstract][Full Text] [Related]
15. Xq28 duplication including MECP2 in six unreported affected females: what can we learn for diagnosis and genetic counselling?
El Chehadeh S; Touraine R; Prieur F; Reardon W; Bienvenu T; Chantot-Bastaraud S; Doco-Fenzy M; Landais E; Philippe C; Marle N; Callier P; Mosca-Boidron AL; Mugneret F; Le Meur N; Goldenberg A; Guerrot AM; Chambon P; Satre V; Coutton C; Jouk PS; Devillard F; Dieterich K; Afenjar A; Burglen L; Moutard ML; Addor MC; Lebon S; Martinet D; Alessandri JL; Doray B; Miguet M; Devys D; Saugier-Veber P; Drunat S; Aral B; Kremer V; Rondeau S; Tabet AC; Thevenon J; Thauvin-Robinet C; Perreton N; Des Portes V; Faivre L
Clin Genet; 2017 Apr; 91(4):576-588. PubMed ID: 27761913
[TBL] [Abstract][Full Text] [Related]
16. Mutations in the MECP2 gene are not a major cause of Rett syndrome-like or related neurodevelopmental phenotype in male patients.
Santos M; Temudo T; Kay T; Carrilho I; Medeira A; Cabral H; Gomes R; Lourenço MT; Venâncio M; Calado E; Moreira A; Oliveira G; Maciel P
J Child Neurol; 2009 Jan; 24(1):49-55. PubMed ID: 19168818
[TBL] [Abstract][Full Text] [Related]
17. Submicroscopic duplication in Xq28 causes increased expression of the MECP2 gene in a boy with severe mental retardation and features of Rett syndrome.
Meins M; Lehmann J; Gerresheim F; Herchenbach J; Hagedorn M; Hameister K; Epplen JT
J Med Genet; 2005 Feb; 42(2):e12. PubMed ID: 15689435
[No Abstract] [Full Text] [Related]
18. Molecular and clinical insights into complex genomic rearrangements related to MECP2 duplication syndrome.
Abdala BB; Gonçalves AP; Dos Santos JM; Boy R; de Carvalho CMB; Grochowski CM; Krepischi ACV; Rosenberg C; Gusmão L; Pehlivan D; Pimentel MMG; Santos-Rebouças CB
Eur J Med Genet; 2021 Dec; 64(12):104367. PubMed ID: 34678473
[TBL] [Abstract][Full Text] [Related]
19. De novo MECP2 duplications in two females with intellectual disability and unfavorable complete skewed X-inactivation.
Fieremans N; Bauters M; Belet S; Verbeeck J; Jansen AC; Seneca S; Roelens F; De Baere E; Marynen P; Froyen G
Hum Genet; 2014 Nov; 133(11):1359-67. PubMed ID: 25037250
[TBL] [Abstract][Full Text] [Related]
20. MECP2 duplication syndrome in a patient from Cameroon.
Tekendo-Ngongang C; Dahoun S; Nguefack S; Moix I; Gimelli S; Zambo H; Morris MA; Sloan-Béna F; Wonkam A
Am J Med Genet A; 2020 Apr; 182(4):619-622. PubMed ID: 32052928
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
