209 related articles for article (PubMed ID: 25037250)
1. 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]
2. 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]
3. 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]
4. 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]
5. 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]
6. 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]
7. 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]
8. Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males.
Van Esch H; Bauters M; Ignatius J; Jansen M; Raynaud M; Hollanders K; Lugtenberg D; Bienvenu T; Jensen LR; Gecz J; Moraine C; Marynen P; Fryns JP; Froyen G
Am J Hum Genet; 2005 Sep; 77(3):442-53. PubMed ID: 16080119
[TBL] [Abstract][Full Text] [Related]
9. A partial MECP2 duplication in a mildly affected adult male: a putative role for the 3' untranslated region in the MECP2 duplication phenotype.
Hanchard NA; Carvalho CM; Bader P; Thome A; Omo-Griffith L; del Gaudio D; Pehlivan D; Fang P; Schaaf CP; Ramocki MB; Lupski JR; Cheung SW
BMC Med Genet; 2012 Aug; 13():71. PubMed ID: 22883432
[TBL] [Abstract][Full Text] [Related]
10. Identification of Intellectual Disability Genes in Female Patients with a Skewed X-Inactivation Pattern.
Fieremans N; Van Esch H; Holvoet M; Van Goethem G; Devriendt K; Rosello M; Mayo S; Martinez F; Jhangiani S; Muzny DM; Gibbs RA; Lupski JR; Vermeesch JR; Marynen P; Froyen G
Hum Mutat; 2016 Aug; 37(8):804-11. PubMed ID: 27159028
[TBL] [Abstract][Full Text] [Related]
11. Lack of MECP2 gene transcription on the duplicated alleles of two related asymptomatic females with Xq28 duplications and opposite X-chromosome inactivation skewing.
Sun Y; Yang Y; Luo Y; Chen M; Wang L; Huang Y; Yang Y; Dong M
Hum Mutat; 2021 Nov; 42(11):1429-1442. PubMed ID: 34273908
[TBL] [Abstract][Full Text] [Related]
12. Intellectual disability and epilepsy due to the K/L-mediated Xq28 duplication: Further evidence of a distinct, dosage-dependent phenotype.
Ward DI; Buckley BA; Leon E; Diaz J; Galegos MF; Hofherr S; Lewanda AF
Am J Med Genet A; 2018 Mar; 176(3):551-559. PubMed ID: 29341460
[TBL] [Abstract][Full Text] [Related]
13. Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome.
Ramocki MB; Peters SU; Tavyev YJ; Zhang F; Carvalho CM; Schaaf CP; Richman R; Fang P; Glaze DG; Lupski JR; Zoghbi HY
Ann Neurol; 2009 Dec; 66(6):771-82. PubMed ID: 20035514
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes.
Giorgio E; Brussino A; Biamino E; Belligni EF; Bruselles A; Ciolfi A; Caputo V; Pizzi S; Calcia A; Di Gregorio E; Cavalieri S; Mancini C; Pozzi E; Ferrero M; Riberi E; Borelli I; Amoroso A; Ferrero GB; Tartaglia M; Brusco A
Eur J Paediatr Neurol; 2017 May; 21(3):475-484. PubMed ID: 28027854
[TBL] [Abstract][Full Text] [Related]
16. Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation.
Bijlsma EK; Collins A; Papa FT; Tejada MI; Wheeler P; Peeters EA; Gijsbers AC; van de Kamp JM; Kriek M; Losekoot M; Broekma AJ; Crolla JA; Pollazzon M; Mucciolo M; Katzaki E; Disciglio V; Ferreri MI; Marozza A; Mencarelli MA; Castagnini C; Dosa L; Ariani F; Mari F; Canitano R; Hayek G; Botella MP; Gener B; Mínguez M; Renieri A; Ruivenkamp CA
Eur J Med Genet; 2012 Jun; 55(6-7):404-13. PubMed ID: 22522176
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. [Diagnosis of MECP2 duplication syndrome with molecular genetic techniques].
Yi Z; Wang S; Li L; Wu H; Ma Y; Qi Y; Pan H
Zhonghua Er Ke Za Zhi; 2014 Dec; 52(12):937-41. PubMed ID: 25619353
[TBL] [Abstract][Full Text] [Related]
19. Molecular characterization of Spanish patients with MECP2 duplication syndrome.
Pascual-Alonso A; Blasco L; Vidal S; Gean E; Rubio P; O'Callaghan M; Martínez-Monseny AF; Castells AA; Xiol C; Català V; Brandi N; Pacheco P; Ros C; Del Campo M; Guillén E; Ibañez S; Sánchez MJ; Lapunzina P; Nevado J; Santos F; Lloveras E; Ortigoza-Escobar JD; Tejada MI; Maortua H; Martínez F; Orellana C; Roselló M; Mesas MA; Obón M; Plaja A; Fernández-Ramos JA; Tizzano E; Marín R; Peña-Segura JL; Alcántara S; Armstrong J
Clin Genet; 2020 Apr; 97(4):610-620. PubMed ID: 32043567
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
