289 related articles for article (PubMed ID: 22909152)
1. A case report of Chinese brothers with inherited MECP2-containing duplication: autism and intellectual disability, but not seizures or respiratory infections.
Xu X; Xu Q; Zhang Y; Zhang X; Cheng T; Wu B; Ding Y; Lu P; Zheng J; Zhang M; Qiu Z; Yu X
BMC Med Genet; 2012 Aug; 13():75. PubMed ID: 22909152
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. The expanding role of MBD genes in autism: identification of a MECP2 duplication and novel alterations in MBD5, MBD6, and SETDB1.
Cukier HN; Lee JM; Ma D; Young JI; Mayo V; Butler BL; Ramsook SS; Rantus JA; Abrams AJ; Whitehead PL; Wright HH; Abramson RK; Haines JL; Cuccaro ML; Pericak-Vance MA; Gilbert JR
Autism Res; 2012 Dec; 5(6):385-97. PubMed ID: 23055267
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. 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]
6. Analysis of MECP2 gene copy number in boys with autism.
Xi CY; Lu Y; Tan YH; Hua TY; Zhao YJ; Liu XM; Gao H
J Child Neurol; 2011 May; 26(5):570-3. PubMed ID: 21531908
[TBL] [Abstract][Full Text] [Related]
7. Genetic analysis of a pedigree with MECP2 duplication syndrome in China.
Zeng L; Zhu H; Wang J; Wang Q; Pang Y; Luo Z; Chen A; Qin S; Zhu S
BMC Med Genomics; 2024 Feb; 17(1):54. PubMed ID: 38373942
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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]
10. Autism multiplex family with 16p11.2p12.2 microduplication syndrome in monozygotic twins and distal 16p11.2 deletion in their brother.
Tabet AC; Pilorge M; Delorme R; Amsellem F; Pinard JM; Leboyer M; Verloes A; Benzacken B; Betancur C
Eur J Hum Genet; 2012 May; 20(5):540-6. PubMed ID: 22234155
[TBL] [Abstract][Full Text] [Related]
11. Further delineation of the
Miguet M; Faivre L; Amiel J; Nizon M; Touraine R; Prieur F; Pasquier L; Lefebvre M; Thevenon J; Dubourg C; Julia S; Sarret C; Remerand G; Francannet C; Laffargue F; Boespflug-Tanguy O; David A; Isidor B; Vigneron J; Leheup B; Lambert L; Philippe C; Béri-Dexheimer M; Cuisset JM; Andrieux J; Plessis G; Toutain A; Guibaud L; Cormier-Daire V; Rio M; Bonnefont JP; Echenne B; Journel H; Burglen L; Chantot-Bastaraud S; Bienvenu T; Baumann C; Perrin L; Drunat S; Jouk PS; Dieterich K; Devillard F; Lacombe D; Philip N; Sigaudy S; Moncla A; Missirian C; Badens C; Perreton N; Thauvin-Robinet C; AChro-Puce R; Pedespan JM; Rooryck C; Goizet C; Vincent-Delorme C; Duban-Bedu B; Bahi-Buisson N; Afenjar A; Maincent K; Héron D; Alessandri JL; Martin-Coignard D; Lesca G; Rossi M; Raynaud M; Callier P; Mosca-Boidron AL; Marle N; Coutton C; Satre V; Caignec CL; Malan V; Romana S; Keren B; Tabet AC; Kremer V; Scheidecker S; Vigouroux A; Lackmy-Port-Lis M; Sanlaville D; Till M; Carneiro M; Gilbert-Dussardier B; Willems M; Van Esch H; Portes VD; El Chehadeh S
J Med Genet; 2018 Jun; 55(6):359-371. PubMed ID: 29618507
[TBL] [Abstract][Full Text] [Related]
12. A sibship with duplication of Xq28 inherited from the mother; genomic characterization and clinical outcomes.
Yon DK; Park JE; Kim SJ; Shim SH; Chae KY
BMC Med Genet; 2017 Mar; 18(1):30. PubMed ID: 28302064
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. MECP2 duplication syndrome in a Chinese family.
Zhang Q; Zhao Y; Yang Y; Bao X
BMC Med Genet; 2015 Dec; 16():112. PubMed ID: 26672597
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. 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]
18. Phenotypic and genotypic variability in four males with MECP2 gene sequence aberrations including a novel deletion.
Psoni S; Sofocleous C; Traeger-Synodinos J; Kitsiou-Tzeli S; Kanavakis E; Fryssira-Kanioura H
Pediatr Res; 2010 May; 67(5):551-6. PubMed ID: 20098342
[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. 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]
[Next] [New Search]
