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Page 1
Developmental epileptic encephalopathy in DLG4-related synaptopathy.
Kassabian B, Levy AM, Gardella E, Aledo-Serrano A, Ananth AL, Brea-Fernández AJ, Caumes R, Chatron N, Dainelli A, De Wachter M, Denommé-Pichon AS, Dye TJ, Fazzi E, Felt R, Fernández-Jaén A, Fernández-Prieto M, Gantz E, Gasperowicz P, Gil-Nagel A, Gómez-Andrés D, Greiner HM, Guerrini R, Haanpää MK, Helin M, Hoyer J, Hurst ACE, Kallish S, Karkare SN, Khan A, Kleinendorst L, Koch J, Kothare SV, Koudijs SM, Lagae L, Lakeman P, Leppig KA, Lesca G, Lopergolo D, Lusk L, Mackenzie A, Mei D, Møller RS, Pereira EM, Platzer K, Quelin C, Revah-Politi A, Rheims S, Rodríguez-Palmero A, Rossi A, Santorelli F, Seinfeld S, Sell E, Stephenson D, Szczaluba K, Trinka E, Umair M, Van Esch H, van Haelst MM, Veenma DCM, Weber S, Weckhuysen S, Zacher P, Tümer Z, Rubboli G. Kassabian B, et al. Among authors: veenma dcm. Epilepsia. 2024 Apr;65(4):1029-1045. doi: 10.1111/epi.17876. Epub 2024 Feb 29. Epilepsia. 2024. PMID: 38135915
Genomic alterations that contribute to the development of isolated and non-isolated congenital diaphragmatic hernia.
Wat MJ, Veenma D, Hogue J, Holder AM, Yu Z, Wat JJ, Hanchard N, Shchelochkov OA, Fernandes CJ, Johnson A, Lally KP, Slavotinek A, Danhaive O, Schaible T, Cheung SW, Rauen KA, Tonk VS, Tibboel D, de Klein A, Scott DA. Wat MJ, et al. J Med Genet. 2011 May;48(5):299-307. doi: 10.1136/jmg.2011.089680. J Med Genet. 2011. PMID: 21525063 Free PMC article.
Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes.
Rinaldi B, Bayat A, Zachariassen LG, Sun JH, Ge YH, Zhao D, Bonde K, Madsen LH, Awad IAA, Bagiran D, Sbeih A, Shah SM, El-Sayed S, Lyngby SM, Pedersen MG, Stenum-Berg C, Walker LC, Krey I, Delahaye-Duriez A, Emrick LT, Sully K, Murali CN, Burrage LC, Plaud Gonzalez JA, Parnes M, Friedman J, Isidor B, Lefranc J, Redon S, Heron D, Mignot C, Keren B, Fradin M, Dubourg C, Mercier S, Besnard T, Cogne B, Deb W, Rivier C, Milani D, Bedeschi MF, Di Napoli C, Grilli F, Marchisio P, Koudijs S, Veenma D, Argilli E, Lynch SA, Au PYB, Ayala Valenzuela FE, Brown C, Masser-Frye D, Jones M, Patron Romero L, Li WL, Thorpe E, Hecher L, Johannsen J, Denecke J, McNiven V, Szuto A, Wakeling E, Cruz V, Sency V, Wang H, Piard J, Kortüm F, Herget T, Bierhals T, Condell A, Ben-Zeev B, Kaur S, Christodoulou J, Piton A, Zweier C, Kraus C, Micalizzi A, Trivisano M, Specchio N, Lesca G, Møller RS, Tümer Z, Musgaard M, Gerard B, Lemke JR, Shi YS, Kristensen AS. Rinaldi B, et al. Brain. 2024 May 3;147(5):1837-1855. doi: 10.1093/brain/awad403. Brain. 2024. PMID: 38038360 Free article.
Role of CAMK2D in neurodevelopment and associated conditions.
Rigter PMF, de Konink C, Dunn MJ, Proietti Onori M, Humberson JB, Thomas M, Barnes C, Prada CE, Weaver KN, Ryan TD, Caluseriu O, Conway J, Calamaro E, Fong CT, Wuyts W, Meuwissen M, Hordijk E, Jonkers CN, Anderson L, Yuseinova B, Polonia S, Beysen D, Stark Z, Savva E, Poulton C, McKenzie F, Bhoj E, Bupp CP, Bézieau S, Mercier S, Blevins A, Wentzensen IM, Xia F, Rosenfeld JA, Hsieh TC, Krawitz PM, Elbracht M, Veenma DCM, Schulman H, Stratton MM, Küry S, van Woerden GM. Rigter PMF, et al. Among authors: veenma dcm. Am J Hum Genet. 2024 Feb 1;111(2):364-382. doi: 10.1016/j.ajhg.2023.12.016. Epub 2024 Jan 24. Am J Hum Genet. 2024. PMID: 38272033
Etiological and pathogenic factors in congenital diaphragmatic hernia.
Sluiter I, Veenma D, van Loenhout R, Rottier R, de Klein A, Keijzer R, Post M, Tibboel D. Sluiter I, et al. Eur J Pediatr Surg. 2012 Oct;22(5):345-54. doi: 10.1055/s-0032-1329409. Epub 2012 Oct 31. Eur J Pediatr Surg. 2012. PMID: 23114975 Review.
21 results