116 related articles for article (PubMed ID: 33516938)
21. 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]
22. Phenotypic features in MECP2 duplication syndrome: Effects of age.
Peters SU; Fu C; Marsh ED; Benke TA; Suter B; Skinner SA; Lieberman DN; Standridge S; Jones M; Beisang A; Feyma T; Heydeman P; Ryther R; Glaze DG; Percy AK; Neul JL
Am J Med Genet A; 2021 Feb; 185(2):362-369. PubMed ID: 33170557
[TBL] [Abstract][Full Text] [Related]
23. Prenatal diagnosis of foetuses with congenital abnormalities and duplication of the MECP2 region.
Fu F; Liu HL; Li R; Han J; Yang X; Min P; Zhen L; Zhang YL; Xie GE; Lei TY; Li Y; Li J; Li DZ; Liao C
Gene; 2014 Aug; 546(2):222-5. PubMed ID: 24914495
[TBL] [Abstract][Full Text] [Related]
24. Eating-induced epileptic spasms in a boy with MECP2 duplication syndrome: insights into pathogenesis of genetic epilepsies.
de Palma L; Boniver C; Cassina M; Toldo I; Nosadini M; Clementi M; Sartori S
Epileptic Disord; 2012 Dec; 14(4):414-7. PubMed ID: 23248047
[TBL] [Abstract][Full Text] [Related]
25. A Case of MECP2 Duplication Syndrome with Gonadotropin-Dependent Precocious Puberty.
Tsuji-Hosokawa A; Matsuda N; Kurosawa K; Kashimada K; Morio T
Horm Res Paediatr; 2017; 87(4):271-276. PubMed ID: 27649574
[TBL] [Abstract][Full Text] [Related]
26. Electroclinical pattern in MECP2 duplication syndrome: eight new reported cases and review of literature.
Vignoli A; Borgatti R; Peron A; Zucca C; Ballarati L; Bonaglia C; Bellini M; Giordano L; Romaniello R; Bedeschi MF; Epifanio R; Russo S; Caselli R; Giardino D; Darra F; La Briola F; Banderali G; Canevini MP
Epilepsia; 2012 Jul; 53(7):1146-55. PubMed ID: 22578097
[TBL] [Abstract][Full Text] [Related]
27. Exploring gastrointestinal health in MECP2 duplication syndrome.
Pehlivan D; Ak M; Glaze DG; Suter B; Motil KJ
Neurogastroenterol Motil; 2023 Aug; 35(8):e14601. PubMed ID: 37122114
[TBL] [Abstract][Full Text] [Related]
28. 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]
29. 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]
30. Exploring the characteristics and most bothersome symptoms in MECP2 duplication syndrome to pave the path toward developing parent-oriented outcome measures.
Ak M; Suter B; Akturk Z; Harris H; Bowyer K; Mignon L; Pasupuleti S; Glaze DG; Pehlivan D
Mol Genet Genomic Med; 2022 Aug; 10(8):e1989. PubMed ID: 35702943
[TBL] [Abstract][Full Text] [Related]
31. How Families Manage the Complex Medical Needs of Their Children with
John Cherian D; Ta D; Smith J; Downs J; Leonard H
Children (Basel); 2023 Jul; 10(7):. PubMed ID: 37508699
[No Abstract] [Full Text] [Related]
32. Characterizing the phenotypic effect of Xq28 duplication size in MECP2 duplication syndrome.
Peters SU; Fu C; Suter B; Marsh E; Benke TA; Skinner SA; Lieberman DN; Standridge S; Jones M; Beisang A; Feyma T; Heydeman P; Ryther R; Kaufmann WE; Glaze DG; Neul JL; Percy AK
Clin Genet; 2019 May; 95(5):575-581. PubMed ID: 30788845
[TBL] [Abstract][Full Text] [Related]
33. Assessing the Burden on Caregivers of MECP2 Duplication Syndrome.
Ak M; Akturk Z; Bowyer K; Mignon L; Pasupuleti S; Glaze DG; Suter B; Pehlivan D
Pediatr Neurol; 2022 Aug; 133():1-8. PubMed ID: 35716604
[TBL] [Abstract][Full Text] [Related]
34. Nationwide survey of glucose transporter-1 deficiency syndrome (GLUT-1DS) in Japan.
Ito Y; Takahashi S; Kagitani-Shimono K; Natsume J; Yanagihara K; Fujii T; Oguni H
Brain Dev; 2015 Sep; 37(8):780-9. PubMed ID: 25487684
[TBL] [Abstract][Full Text] [Related]
35. MECP2 Duplication Syndrome: Evidence of Enhanced Oxidative Stress. A Comparison with Rett Syndrome.
Signorini C; De Felice C; Leoncini S; Møller RS; Zollo G; Buoni S; Cortelazzo A; Guerranti R; Durand T; Ciccoli L; D'Esposito M; Ravn K; Hayek J
PLoS One; 2016; 11(3):e0150101. PubMed ID: 26930212
[TBL] [Abstract][Full Text] [Related]
36. The incidence, prevalence and clinical features of MECP2 duplication syndrome in Australian children.
Giudice-Nairn P; Downs J; Wong K; Wilson D; Ta D; Gattas M; Amor D; Thompson E; Kirrali-Borri C; Ellaway C; Leonard H
J Paediatr Child Health; 2019 Nov; 55(11):1315-1322. PubMed ID: 30756435
[TBL] [Abstract][Full Text] [Related]
37. Monkey model of MECP2 duplication syndrome aids autism research: Monkeys genetically altered with extra copies of MECP2 are being used as a model for research into autism and MECP2 duplication syndrome.
Am J Med Genet A; 2016 May; 170A(5):1112-3. PubMed ID: 27075501
[No Abstract] [Full Text] [Related]
38. MECP2-related disorders while gene-based therapies are on the horizon.
Allison K; Maletic-Savatic M; Pehlivan D
Front Genet; 2024; 15():1332469. PubMed ID: 38410154
[TBL] [Abstract][Full Text] [Related]
39. 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]
40. 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]
[Previous] [Next] [New Search]
