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Best matches for mecp2+duplication+syndrome:

Infectious and immunologic phenotype of MECP2 duplication syndrome. Bauer M et al. J Clin Immunol. (2015)

MECP2 duplication syndrome in a Chinese family. Zhang Q et al. BMC Med Genet. (2015)

[Advance in research on MECP2 [corrected] duplication syndrome]. Zhang Q et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. (2015)

Search results

Items: 1 to 20 of 90

1.

Increased Axonal Bouton Stability during Learning in the Mouse Model of MECP2 Duplication Syndrome.

Ash RT, Fahey PG, Park J, Zoghbi HY, Smirnakis SM.

eNeuro. 2018 Aug 10;5(3). pii: ENEURO.0056-17.2018. doi: 10.1523/ENEURO.0056-17.2018. eCollection 2018 May-Jun.

2.

Mouse models as a tool for discovering new neurological diseases.

Tan Q, Zoghbi HY.

Neurobiol Learn Mem. 2018 Jul 17. pii: S1074-7427(18)30166-7. doi: 10.1016/j.nlm.2018.07.006. [Epub ahead of print]

PMID:
30030131
3.

Experience-dependent MeCP2 expression in the excitatory cells of mouse visual thalamus.

Yagasaki Y, Miyoshi G, Miyata M.

PLoS One. 2018 May 30;13(5):e0198268. doi: 10.1371/journal.pone.0198268. eCollection 2018.

4.

Regulation of neural differentiation, synaptic scaling and animal behavior by MeCP2 phophorylation.

Zhong X, Li H, Kim J, Chang Q.

Neurobiol Learn Mem. 2018 Apr 24. pii: S1074-7427(18)30099-6. doi: 10.1016/j.nlm.2018.04.014. [Epub ahead of print]

PMID:
29698767
5.

Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features.

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. doi: 10.1136/jmedgenet-2017-104956. Epub 2018 Apr 4.

PMID:
29618507
6.

First report of an unusual novel double mutation affecting the transcription repression domain of MeCP2 and causing a severe phenotype of Rett syndrome: Molecular analyses and computational investigation.

Ghorbel R, Ghorbel R, Rouissi A, Fendri-Kriaa N, Ben Salah G, Belguith N, Ammar-Keskes L, Gouider-Khouja N, Fakhfakh F.

Biochem Biophys Res Commun. 2018 Feb 26;497(1):93-101. doi: 10.1016/j.bbrc.2018.02.029. Epub 2018 Feb 6.

PMID:
29421650
7.

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. doi: 10.1002/ajmg.a.38524. Epub 2018 Jan 17.

PMID:
29341460
8.

Severe rhizomelic shortening in a child with a complex duplication/deletion rearrangement of chromosome X.

Deshwar AR, Dupuis L, Bergmann C, Stavropoulos J, Mendoza-Londono R.

Am J Med Genet A. 2018 Feb;176(2):450-454. doi: 10.1002/ajmg.a.38570. Epub 2017 Dec 22.

PMID:
29271572
9.

Genetic Reduction or Negative Modulation of mGlu7 Does Not Impact Anxiety and Fear Learning Phenotypes in a Mouse Model of MECP2 Duplication Syndrome.

Fisher NM, Gogliotti RG, Vermudez SAD, Stansley BJ, Conn PJ, Niswender CM.

ACS Chem Neurosci. 2018 Sep 19;9(9):2210-2217. doi: 10.1021/acschemneuro.7b00414. Epub 2017 Dec 14.

PMID:
29227625
10.

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 15;18(1):131. doi: 10.1186/s12881-017-0486-4.

11.

Contextual Fear Extinction Induces Hippocampal Metaplasticity Mediated by Metabotropic Glutamate Receptor 5.

Stansley BJ, Fisher NM, Gogliotti RG, Lindsley CW, Conn PJ, Niswender CM.

Cereb Cortex. 2017 Nov 9:1-14. doi: 10.1093/cercor/bhx282. [Epub ahead of print]

PMID:
29136107
12.

Antibiotic Prophylaxis, Immunoglobulin Substitution and Supportive Measures Prevent Infections in MECP2 Duplication Syndrome.

Bauer M, Krüger R, Kölsch U, Unterwalder N, Meisel C, Wahn V, von Bernuth H.

Pediatr Infect Dis J. 2018 May;37(5):466-468. doi: 10.1097/INF.0000000000001799.

PMID:
28938254
13.

Distinguishing response to names in Rett and MECP2 Duplication syndrome: An ERP study of auditory social information processing.

Peters SU, Katzenstein A, Jones D, Key AP.

Brain Res. 2017 Nov 15;1675:71-77. doi: 10.1016/j.brainres.2017.08.028. Epub 2017 Sep 1.

PMID:
28870827
14.

An RNA interference screen identifies druggable regulators of MeCP2 stability.

Lombardi LM, Zaghlula M, Sztainberg Y, Baker SA, Klisch TJ, Tang AA, Huang EJ, Zoghbi HY.

Sci Transl Med. 2017 Aug 23;9(404). pii: eaaf7588. doi: 10.1126/scitranslmed.aaf7588.

15.

Altered visual cortical processing in a mouse model of MECP2 duplication syndrome.

Zhang D, Yu B, Liu J, Jiang W, Xie T, Zhang R, Tong D, Qiu Z, Yao H.

Sci Rep. 2017 Jul 25;7(1):6468. doi: 10.1038/s41598-017-06916-3.

16.

[MECP2 gene and MECP2-related diseases].

Peng J.

Zhongguo Dang Dai Er Ke Za Zhi. 2017 May;19(5):494-497. Review. Chinese. No abstract available.

17.

[MECP2 duplication syndrome: a clinical analysis of three cases and literature review].

Tang DX, Li DF, Wu RH, Zhang LN, Luo XY.

Zhongguo Dang Dai Er Ke Za Zhi. 2017 May;19(5):489-493. Review. Chinese.

18.

MECP2 Duplications in Symptomatic Females: Report on 3 Patients Showing the Broad Phenotypic Spectrum.

San Antonio-Arce V, Fenollar-Cortés M, Oancea Ionescu R, DeSantos-Moreno T, Gallego-Merlo J, Illana Cámara FJ, Cotarelo Pérez MC.

Child Neurol Open. 2016 Apr 4;3:2329048X16630673. doi: 10.1177/2329048X16630673. eCollection 2016 Jan-Dec.

19.

[Application of chromosomal microarray analysis for the diagnosis of children with intellectual disability/developmental delay and a normal karytype].

Hu T, Zhu H, Zhang Z, Wang J, Liu H, Zhang X, Zhang H, Du Z, Li L, Wang H, Liu S.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017 Apr 10;34(2):169-172. doi: 10.3760/cma.j.issn.1003-9406.2017.02.003. Chinese.

PMID:
28397211
20.

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 17;18(1):30. doi: 10.1186/s12881-017-0394-7.

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