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Items: 1 to 20 of 132

1.
3例MECP2重复综合征临床分析和文献复习
唐 丹霞, 李 栋方, 吴 若豪, 张 丽娜, 罗 向阳
Zhongguo Dang Dai Er Ke Za Zhi. 2017 May 25; 19(5): 489–493. Chinese. doi: 10.7499/j.issn.1008-8830.2017.05.001
PMCID:
PMC7389140
AbstractArticlePDF–1.7M
2.
A sibship with duplication of Xq28 inherited from the mother; genomic characterization and clinical outcomes
Dong Keon Yon, Ji Eun Park, Seung Jun Kim, Sung Han Shim, Kyu Young Chae
BMC Med Genet. 2017; 18: 30. Published online 2017 Mar 17. doi: 10.1186/s12881-017-0394-7
PMCID:
PMC5356410
AbstractArticlePDF–2.5M
3.
Clinical and molecular genetic characterization of familial MECP2 duplication syndrome in a Chinese family
Xiaoyan Li, Hua Xie, Qian Chen, Xiongying Yu, Zhaoshi Yi, Erzhen Li, Ting Zhang, Jian Wang, Jianmin Zhong, Xiaoli Chen
BMC Med Genet. 2017; 18: 131. Published online 2017 Nov 15. doi: 10.1186/s12881-017-0486-4
PMCID:
PMC5688748
AbstractArticlePDF–2.4M
4.
Spectrum and time course of epilepsy and the associated cognitive decline in MECP2 duplication syndrome
Dana Marafi, Bernhard Suter, Rebecca Schultz, Daniel Glaze, Valory N. Pavlik, Alica M. Goldman
Neurology. 2019 Jan 8; 92(2): e108–e114. doi: 10.1212/WNL.0000000000006742
PMCID:
PMC6340341
AbstractArticlePDF–162K
5.
Characterizing the Phenotypic Effect of Xq28 Duplication Size in MECP2 Duplication Syndrome
S.U. Peters, C. Fu, B. Suter, E. Marsh, T.A. Benke, S. A. Skinner, D.N. Lieberman, S Standridge, M. Jones, A. Beisang, T. Feyma, P. Heydeman, R. Ryther, W.E. Kaufmann, D.G. Glaze, J.L Neul, A.K. Percy
Clin Genet. Author manuscript; available in PMC 2020 May 1.
Published in final edited form as: Clin Genet. 2019 May; 95(5): 575–581. Published online 2019 Mar 15. doi: 10.1111/cge.13521
PMCID:
PMC6465105
AbstractArticlePDF–203K
6.
Intellectual disability and epilepsy due to the K/L-mediated Xq28 duplication: Further evidence of a distinct, dosage-dependent phenotype
David Isum Ward, Bethany A. Buckley, Eyby Leon, Jullianne Diaz, Margaret Faust Galegos, Sean Hofherr, Amy Feldman Lewanda
Am J Med Genet A. Author manuscript; available in PMC 2019 Aug 4.
Published in final edited form as: Am J Med Genet A. 2018 Mar; 176(3): 551–559. Published online 2018 Jan 17. doi: 10.1002/ajmg.a.38524
Correction in:
Am J Med Genet A. 2021 Jan; 185(1): 304.
PMCID:
PMC6679916
AbstractArticlePDF–464K
7.
Infectious and Immunologic Phenotype of MECP2 Duplication Syndrome
Michael Bauer, Uwe Kölsch, Renate Krüger, Nadine Unterwalder, Karin Hameister, Fabian Marc Kaiser, Aglaia Vignoli, Rainer Rossi, Maria Pilar Botella, Magdalena Budisteanu, Monica Rosello, Carmen Orellana, Maria Isabel Tejada, Sorina Mihaela Papuc, Oliver Patat, Sophie Julia, Renaud Touraine, Thusari Gomes, Kirsten Wenner, Xiu Xu, Alexandra Afenjar, Annick Toutain, Nicole Philip, Aleksandra Jezela-Stanek, Ludwig Gortner, Francisco Martinez, Bernard Echenne, Volker Wahn, Christian Meisel, Dagmar Wieczorek, Salima El-Chehadeh, Hilde Van Esch, Horst von Bernuth
J Clin Immunol. 2015; 35(2): 168–181. Published online 2015 Feb 27. doi: 10.1007/s10875-015-0129-5
PMCID:
PMC7101860
AbstractArticlePDF–1.4M
8.
Int22h1/Int22h2-mediated Xq28 duplication syndrome: de novo duplications, prenatal diagnoses, and additional phenotypic features
Rami A. Ballout, Cheryl Dickerson, Myra J. Wick, Najla Al-Sweel, Amanda S. Openshaw, Siddharth Srivastava, Lindsay Swanson, Nuria C. Bramswig, Alma Kuechler, Bo Hong, Leah R. Fleming, KT Curry, Stephen P. Robertson, Erica F. Andersen, Ayman W. El-Hattab
Hum Mutat. Author manuscript; available in PMC 2021 Jul 1.
Published in final edited form as: Hum Mutat. 2020 Jul; 41(7): 1238–1249. Published online 2020 Mar 12. doi: 10.1002/humu.24009
PMCID:
PMC7292747
AbstractArticlePDF–635K
9.
Cortisol profiles and clinical severity in MECP2 duplication syndrome
Sarika U. Peters, Cary Fu, Jeffrey L. Neul, Douglas A. Granger
J Neurodev Disord. 2020; 12: 19. Published online 2020 Jul 22. doi: 10.1186/s11689-020-09322-5
PMCID:
PMC7376951
AbstractArticlePDF–923K
10.
The presence of two rare genomic syndromes, 1q21 deletion and Xq28 duplication, segregating independently in a family with intellectual disability
Kyungsoo Ha, Yiping Shen, Tyler Graves, Cheol-Hee Kim, Hyung-Goo Kim
Mol Cytogenet. 2016; 9: 74. Published online 2016 Sep 29. doi: 10.1186/s13039-016-0286-0
PMCID:
PMC5041540
AbstractArticlePDF–1.9M
11.
MECP2 Duplication Syndrome in a Patient from Cameroon
Cedrik Tekendo-Ngongang, Sophie Dahoun, Séraphin Nguefack, Isabelle Moix, Huguette Zambo, Michael. A Morris, Frédérique Béna, Ambroise Wonkam
Am J Med Genet A. Author manuscript; available in PMC 2020 Aug 27.
Published in final edited form as: Am J Med Genet A. 2020 Apr; 182(4): 619–622. Published online 2020 Feb 13. doi: 10.1002/ajmg.a.61510
PMCID:
PMC7450984
AbstractArticlePDF–805K
12.
Phenotypic features in MECP2 duplication syndrome: Effects of age
Sarika U. Peters, Cary Fu, Eric D. Marsh, Tim A. Benke, Bernard Suter, Steve A. Skinner, David N. Lieberman, Shannon Standridge, Mary Jones, Arthur Beisang, Timothy Feyma, Peter Heydeman, Robin Ryther, Daniel G. Glaze, Alan K. Percy, Jeffrey L. Neul
Am J Med Genet A. Author manuscript; available in PMC 2022 Feb 1.
Published in final edited form as: Am J Med Genet A. 2021 Feb; 185(2): 362–369. Published online 2020 Nov 10. doi: 10.1002/ajmg.a.61956
PMCID:
PMC8000774
AbstractArticlePDF–551K
13.
Abdominal compartment syndrome secondary to chronic constipation in MECP2 duplication syndrome
Alyaa Al Ali, Ram Singh, Guido Filler, Musaab Ramsi
BMJ Case Rep. 2021; 14(6): e242104. Published online 2021 Jun 2. doi: 10.1136/bcr-2021-242104
PMCID:
PMC8174494
AbstractArticlePDF–245K
14.
The int22h1/int22h2-Mediated Xq28 Duplication Syndrome: An Intersection between Neurodevelopment, Immunology, and Cancer
Rami A. Ballout, Ayman W. El-Hattab
Genes (Basel) 2021 Jun; 12(6): 860. Published online 2021 Jun 4. doi: 10.3390/genes12060860
PMCID:
PMC8229372
AbstractArticlePDF–563K
15.
A brief history of MECP2 duplication syndrome: 20-years of clinical understanding
Daniel Ta, Jenny Downs, Gareth Baynam, Andrew Wilson, Peter Richmond, Helen Leonard
Orphanet J Rare Dis. 2022; 17: 131. Published online 2022 Mar 21. doi: 10.1186/s13023-022-02278-w
PMCID:
PMC8939085
AbstractArticlePDF–1.6M
16.
Antisense oligonucleotide therapy in a humanized mouse model of MECP2 duplication syndrome
Yingyao Shao, Yehezkel Sztainberg, Qi Wang, Sameer S. Bajikar, Alexander J. Trostle, Ying-Wooi Wan, Paymaan Jafar-nejad, Frank Rigo, Zhandong Liu, Jianrong Tang, Huda Y. Zoghbi
Sci Transl Med. Author manuscript; available in PMC 2022 Apr 3.
Published in final edited form as: Sci Transl Med. 2021 Mar 3; 13(583): eaaz7785. doi: 10.1126/scitranslmed.aaz7785
PMCID:
PMC8976688
AbstractArticlePDF–1.0M
17.
MECP2 duplication syndrome: The electroclinical features of a case with long-term evolution
Ilaria Cani, Lorenzo Muccioli, Francesco Mignani, Laura Licchetta, Paolo Tinuper, Federica Provini, Francesca Bisulli
Epilepsy Behav Rep. 2022; 19: 100541. Published online 2022 Apr 19. doi: 10.1016/j.ebr.2022.100541
PMCID:
PMC9062211
AbstractArticlePDF–1.3M
18.
An Irak1-Mecp2 tandem duplication mouse model for the study of MECP2 duplication syndrome
Eleonora Maino, Ori Scott, Samar Z. Rizvi, Wing Suen Chan, Shagana Visuvanathan, Youssif Ben Zablah, Hongbin Li, Ameet S. Sengar, Michael W. Salter, Zhengping Jia, Janet Rossant, Ronald D. Cohn, Bin Gu, Evgueni A. Ivakine
Dis Model Mech. 2024 Jul 1; 17(7): dmm050528. Published online 2024 Jul 23. doi: 10.1242/dmm.050528
PMCID:
PMC11552499
AbstractArticle
19.
MECP2 Duplication Syndrome: Evidence of Enhanced Oxidative Stress. A Comparison with Rett Syndrome
Cinzia Signorini, Claudio De Felice, Silvia Leoncini, Rikke S. Møller, Gloria Zollo, Sabrina Buoni, Alessio Cortelazzo, Roberto Guerranti, Thierry Durand, Lucia Ciccoli, Maurizio D’Esposito, Kirstine Ravn, Joussef Hayek
PLoS One. 2016; 11(3): e0150101. Published online 2016 Mar 1. doi: 10.1371/journal.pone.0150101
PMCID:
PMC4773238
AbstractArticlePDF–366K
20.
MECP2 duplication syndrome in a Chinese family
Qingping Zhang, Ying Zhao, Yanling Yang, Xinhua Bao
BMC Med Genet. 2015; 16: 112. Published online 2015 Dec 16. doi: 10.1186/s12881-015-0264-0
PMCID:
PMC4682232
AbstractArticlePDF–1.4M

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