Literature DB >> 20729728

Late-onset gain of skills and peculiar jugular pit in an 11-year-old girl with 5q14.3 microdeletion including MEF2C.

Siren Berland1, Gunnar Houge.   

Abstract

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Year:  2010        PMID： 20729728     DOI： 10.1097/MCD.0b013e32833dc589

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN： 0962-8827            Impact factor:   0.816


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  6 in total

1.  MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways.

Authors:  Alex R Paciorkowski; Ryan N Traylor; Jill A Rosenfeld; Jacqueline M Hoover; Catharine J Harris; Susan Winter; Yves Lacassie; Martin Bialer; Allen N Lamb; Roger A Schultz; Elizabeth Berry-Kravis; Brenda E Porter; Marni Falk; Anu Venkat; Rena J Vanzo; Julie S Cohen; Ali Fatemi; William B Dobyns; Lisa G Shaffer; Blake C Ballif; Eric D Marsh
Journal:  Neurogenetics       Date:  2013-02-07       Impact factor: 2.660

Review 2.  Further Clinical Delineation of the MEF2C Haploinsufficiency Syndrome: Report on New Cases and Literature Review of Severe Neurodevelopmental Disorders Presenting with Seizures, Absent Speech, and Involuntary Movements.

Authors:  Irena Vrečar; Josie Innes; Elizabeth A Jones; Helen Kingston; William Reardon; Bronwyn Kerr; Jill Clayton-Smith; Sofia Douzgou
Journal:  J Pediatr Genet       Date:  2017-04-12

3.  The MEF2C-Related and 5q14.3q15 Microdeletion Syndrome.

Authors:  M Zweier; A Rauch
Journal:  Mol Syndromol       Date:  2012-04-16

4.  Postnatal Loss of Mef2c Results in Dissociation of Effects on Synapse Number and Learning and Memory.

Authors:  Megumi Adachi; Pei-Yi Lin; Heena Pranav; Lisa M Monteggia
Journal:  Biol Psychiatry       Date:  2015-10-08       Impact factor: 13.382

5.  NitroSynapsin therapy for a mouse MEF2C haploinsufficiency model of human autism.

Authors:  Shichun Tu; Mohd Waseem Akhtar; Rosa Maria Escorihuela; Alejandro Amador-Arjona; Vivek Swarup; James Parker; Jeffrey D Zaremba; Timothy Holland; Neha Bansal; Daniel R Holohan; Kevin Lopez; Scott D Ryan; Shing Fai Chan; Li Yan; Xiaofei Zhang; Xiayu Huang; Abdullah Sultan; Scott R McKercher; Rajesh Ambasudhan; Huaxi Xu; Yuqiang Wang; Daniel H Geschwind; Amanda J Roberts; Alexey V Terskikh; Robert A Rissman; Eliezer Masliah; Stuart A Lipton; Nobuki Nakanishi
Journal:  Nat Commun       Date:  2017-11-14       Impact factor: 14.919

6.  MEF2C Hypofunction in Neuronal and Neuroimmune Populations Produces MEF2C Haploinsufficiency Syndrome-like Behaviors in Mice.

Authors:  Adam J Harrington; Catherine M Bridges; Stefano Berto; Kayla Blankenship; Jennifer Y Cho; Ahlem Assali; Benjamin M Siemsen; Hannah W Moore; Evgeny Tsvetkov; Acadia Thielking; Genevieve Konopka; David B Everman; Michael D Scofield; Steven A Skinner; Christopher W Cowan
Journal:  Biol Psychiatry       Date:  2020-03-31       Impact factor: 13.382
  6 in total

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