Search Page
Save citations to file
Email citations
Send citations to clipboard
Add to Collections
Add to My Bibliography
Create a file for external citation management software
Your saved search
Your RSS Feed
Filters
Results by year
Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2004 | 1 |
2013 | 2 |
2015 | 2 |
2016 | 3 |
2017 | 1 |
2024 | 0 |
Search Results
7 results
Results by year
Filters applied: . Clear all
Page 1
De novo loss of function mutations in KIAA2022 are associated with epilepsy and neurodevelopmental delay in females.
Clin Genet. 2017 May;91(5):756-763. doi: 10.1111/cge.12854. Epub 2016 Sep 29.
Clin Genet. 2017.
PMID: 27568816
Free article.
De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy.
de Lange IM, Helbig KL, Weckhuysen S, Møller RS, Velinov M, Dolzhanskaya N, Marsh E, Helbig I, Devinsky O, Tang S, Mefford HC, Myers CT, van Paesschen W, Striano P, van Gassen K, van Kempen M, de Kovel CG, Piard J, Minassian BA, Nezarati MM, Pessoa A, Jacquette A, Maher B, Balestrini S, Sisodiya S, Warde MT, De St Martin A, Chelly J; EuroEPINOMICS-RES MAE working group; van 't Slot R, Van Maldergem L, Brilstra EH, Koeleman BP.
de Lange IM, et al.
J Med Genet. 2016 Dec;53(12):850-858. doi: 10.1136/jmedgenet-2016-103909. Epub 2016 Jun 29.
J Med Genet. 2016.
PMID: 27358180
Free PMC article.
Item in Clipboard
KIAA2022 nonsense mutation in a symptomatic female.
Farach LS, Northrup H.
Farach LS, et al.
Am J Med Genet A. 2016 Mar;170(3):703-6. doi: 10.1002/ajmg.a.37479. Epub 2015 Nov 17.
Am J Med Genet A. 2016.
PMID: 26576034
Item in Clipboard
Delineation of the KIAA2022 mutation phenotype: two patients with X-linked intellectual disability and distinctive features.
Kuroda Y, Ohashi I, Naruto T, Ida K, Enomoto Y, Saito T, Nagai J, Wada T, Kurosawa K.
Kuroda Y, et al.
Am J Med Genet A. 2015 Jun;167(6):1349-53. doi: 10.1002/ajmg.a.37002. Epub 2015 Apr 21.
Am J Med Genet A. 2015.
PMID: 25900396
Item in Clipboard
XLMR protein related to neurite extension (Xpn/KIAA2022) regulates cell-cell and cell-matrix adhesion and migration.
Magome T, Hattori T, Taniguchi M, Ishikawa T, Miyata S, Yamada K, Takamura H, Matsuzaki S, Ito A, Tohyama M, Katayama T.
Magome T, et al.
Neurochem Int. 2013 Nov;63(6):561-9. doi: 10.1016/j.neuint.2013.09.011. Epub 2013 Sep 24.
Neurochem Int. 2013.
PMID: 24071057
Item in Clipboard
Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth.
Van Maldergem L, Hou Q, Kalscheuer VM, Rio M, Doco-Fenzy M, Medeira A, de Brouwer AP, Cabrol C, Haas SA, Cacciagli P, Moutton S, Landais E, Motte J, Colleaux L, Bonnet C, Villard L, Dupont J, Man HY.
Van Maldergem L, et al.
Hum Mol Genet. 2013 Aug 15;22(16):3306-14. doi: 10.1093/hmg/ddt187. Epub 2013 Apr 24.
Hum Mol Genet. 2013.
PMID: 23615299
Free PMC article.
Item in Clipboard
Disruption of a new X linked gene highly expressed in brain in a family with two mentally retarded males.
Cantagrel V, Lossi AM, Boulanger S, Depetris D, Mattei MG, Gecz J, Schwartz CE, Van Maldergem L, Villard L.
Cantagrel V, et al.
J Med Genet. 2004 Oct;41(10):736-42. doi: 10.1136/jmg.2004.021626.
J Med Genet. 2004.
PMID: 15466006
Free PMC article.
Item in Clipboard
Cite
Cite