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Year | Number of Results |
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1997 | 1 |
2008 | 1 |
2012 | 1 |
2013 | 2 |
2018 | 2 |
2024 | 0 |
PubMed (cited) for id: 602119
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Page 1
Chd2 Is Necessary for Neural Circuit Development and Long-Term Memory.
Neuron. 2018 Dec 5;100(5):1180-1193.e6. doi: 10.1016/j.neuron.2018.09.049. Epub 2018 Oct 18.
Neuron. 2018.
PMID: 30344048
Free PMC article.
The first reported case of an inherited pathogenic CHD2 variant in a clinically affected mother and daughter.
Petersen AK, Streff H, Tokita M, Bostwick BL.
Petersen AK, et al.
Am J Med Genet A. 2018 Jul;176(7):1667-1669. doi: 10.1002/ajmg.a.38835. Epub 2018 May 9.
Am J Med Genet A. 2018.
PMID: 29740950
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De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome.
Suls A, Jaehn JA, Kecskés A, Weber Y, Weckhuysen S, Craiu DC, Siekierska A, Djémié T, Afrikanova T, Gormley P, von Spiczak S, Kluger G, Iliescu CM, Talvik T, Talvik I, Meral C, Caglayan HS, Giraldez BG, Serratosa J, Lemke JR, Hoffman-Zacharska D, Szczepanik E, Barisic N, Komarek V, Hjalgrim H, Møller RS, Linnankivi T, Dimova P, Striano P, Zara F, Marini C, Guerrini R, Depienne C, Baulac S, Kuhlenbäumer G, Crawford AD, Lehesjoki AE, de Witte PA, Palotie A, Lerche H, Esguerra CV, De Jonghe P, Helbig I; EuroEPINOMICS RES Consortium.
Suls A, et al.
Am J Hum Genet. 2013 Nov 7;93(5):967-75. doi: 10.1016/j.ajhg.2013.09.017. Epub 2013 Oct 24.
Am J Hum Genet. 2013.
PMID: 24207121
Free PMC article.
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Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.
Carvill GL, Heavin SB, Yendle SC, McMahon JM, O'Roak BJ, Cook J, Khan A, Dorschner MO, Weaver M, Calvert S, Malone S, Wallace G, Stanley T, Bye AM, Bleasel A, Howell KB, Kivity S, Mackay MT, Rodriguez-Casero V, Webster R, Korczyn A, Afawi Z, Zelnick N, Lerman-Sagie T, Lev D, Møller RS, Gill D, Andrade DM, Freeman JL, Sadleir LG, Shendure J, Berkovic SF, Scheffer IE, Mefford HC.
Carvill GL, et al.
Nat Genet. 2013 Jul;45(7):825-30. doi: 10.1038/ng.2646. Epub 2013 May 26.
Nat Genet. 2013.
PMID: 23708187
Free PMC article.
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Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.
Rauch A, Wieczorek D, Graf E, Wieland T, Endele S, Schwarzmayr T, Albrecht B, Bartholdi D, Beygo J, Di Donato N, Dufke A, Cremer K, Hempel M, Horn D, Hoyer J, Joset P, Röpke A, Moog U, Riess A, Thiel CT, Tzschach A, Wiesener A, Wohlleber E, Zweier C, Ekici AB, Zink AM, Rump A, Meisinger C, Grallert H, Sticht H, Schenck A, Engels H, Rappold G, Schröck E, Wieacker P, Riess O, Meitinger T, Reis A, Strom TM.
Rauch A, et al.
Lancet. 2012 Nov 10;380(9854):1674-82. doi: 10.1016/S0140-6736(12)61480-9. Epub 2012 Sep 27.
Lancet. 2012.
PMID: 23020937
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Disruption of chromodomain helicase DNA binding protein 2 (CHD2) causes scoliosis.
Kulkarni S, Nagarajan P, Wall J, Donovan DJ, Donell RL, Ligon AH, Venkatachalam S, Quade BJ.
Kulkarni S, et al.
Am J Med Genet A. 2008 May 1;146A(9):1117-27. doi: 10.1002/ajmg.a.32178.
Am J Med Genet A. 2008.
PMID: 18386809
Free PMC article.
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Characterization of the CHD family of proteins.
Woodage T, Basrai MA, Baxevanis AD, Hieter P, Collins FS.
Woodage T, et al.
Proc Natl Acad Sci U S A. 1997 Oct 14;94(21):11472-7. doi: 10.1073/pnas.94.21.11472.
Proc Natl Acad Sci U S A. 1997.
PMID: 9326634
Free PMC article.
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