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Items: 1 to 20 of 32

1.

Comprehensive investigation of CASK mutations and other genetic etiologies in 41 patients with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH).

Hayashi S, Uehara DT, Tanimoto K, Mizuno S, Chinen Y, Fukumura S, Takanashi JI, Osaka H, Okamoto N, Inazawa J.

PLoS One. 2017 Aug 7;12(8):e0181791. doi: 10.1371/journal.pone.0181791. eCollection 2017.

2.

A de novo splice site mutation in CASK causes FG syndrome-4 and congenital nystagmus.

Dunn P, Prigatano GP, Szelinger S, Roth J, Siniard AL, Claasen AM, Richholt RF, De Both M, Corneveaux JJ, Moskowitz AM, Balak C, Piras IS, Russell M, Courtright AL, Belnap N, Rangasamy S, Ramsey K, Opitz JM, Craig DW, Narayanan V, Huentelman MJ, Schrauwen I.

Am J Med Genet A. 2017 Mar;173(3):611-617. doi: 10.1002/ajmg.a.38069. Epub 2017 Jan 31.

PMID:
28139025
3.

Neurexins 1-3 Each Have a Distinct Pattern of Expression in the Early Developing Human Cerebral Cortex.

Harkin LF, Lindsay SJ, Xu Y, Alzu'bi A, Ferrara A, Gullon EA, James OG, Clowry GJ.

Cereb Cortex. 2017 Jan 1;27(1):216-232. doi: 10.1093/cercor/bhw394.

4.

Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics.

Loviglio MN, Beck CR, White JJ, Leleu M, Harel T, Guex N, Niknejad A, Bi W, Chen ES, Crespo I, Yan J, Charng WL, Gu S, Fang P, Coban-Akdemir Z, Shaw CA, Jhangiani SN, Muzny DM, Gibbs RA, Rougemont J, Xenarios I, Lupski JR, Reymond A.

Genome Med. 2016 Nov 1;8(1):105.

5.

Reelin-Dab1 signaling system in human colorectal cancer.

Serrano-Morales JM, Vázquez-Carretero MD, Peral MJ, Ilundáin AA, García-Miranda P.

Mol Carcinog. 2017 Feb;56(2):712-721. doi: 10.1002/mc.22527. Epub 2016 Aug 8.

PMID:
27434856
6.

Lateral Membrane-Specific MAGUK CASK Down-Regulates NaV1.5 Channel in Cardiac Myocytes.

Eichel CA, Beuriot A, Chevalier MY, Rougier JS, Louault F, Dilanian G, Amour J, Coulombe A, Abriel H, Hatem SN, Balse E.

Circ Res. 2016 Aug 5;119(4):544-56. doi: 10.1161/CIRCRESAHA.116.309254. Epub 2016 Jun 30.

7.

The stepwise evolution of the exome during acquisition of docetaxel resistance in breast cancer cells.

Hansen SN, Ehlers NS, Zhu S, Thomsen MB, Nielsen RL, Liu D, Wang G, Hou Y, Zhang X, Xu X, Bolund L, Yang H, Wang J, Moreira J, Ditzel HJ, Brünner N, Schrohl AS, Stenvang J, Gupta R.

BMC Genomics. 2016 Jun 9;17:442. doi: 10.1186/s12864-016-2749-4.

8.

Exome sequencing identified mutations in CASK and MYBPC3 as the cause of a complex dilated cardiomyopathy phenotype.

Reinstein E, Tzur S, Bormans C, Behar DM.

Genet Res (Camb). 2016 May 13;98:e8. doi: 10.1017/S0016672316000045.

PMID:
27173948
9.

X-linked intellectual disability gene CASK regulates postnatal brain growth in a non-cell autonomous manner.

Srivastava S, McMillan R, Willis J, Clark H, Chavan V, Liang C, Zhang H, Hulver M, Mukherjee K.

Acta Neuropathol Commun. 2016 Mar 31;4:30. doi: 10.1186/s40478-016-0295-6.

10.

Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly.

Rump P, Jazayeri O, van Dijk-Bos KK, Johansson LF, van Essen AJ, Verheij JB, Veenstra-Knol HE, Redeker EJ, Mannens MM, Swertz MA, Alizadeh BZ, van Ravenswaaij-Arts CM, Sinke RJ, Sikkema-Raddatz B.

BMC Med Genomics. 2016 Feb 4;9:7. doi: 10.1186/s12920-016-0167-8.

11.

A network of autism linked genes stabilizes two pools of synaptic GABA(A) receptors.

Tong XJ, Hu Z, Liu Y, Anderson D, Kaplan JM.

Elife. 2015 Nov 17;4:e09648. doi: 10.7554/eLife.09648.

12.

Human Neuropsychiatric Disease Modeling using Conditional Deletion Reveals Synaptic Transmission Defects Caused by Heterozygous Mutations in NRXN1.

Pak C, Danko T, Zhang Y, Aoto J, Anderson G, Maxeiner S, Yi F, Wernig M, Südhof TC.

Cell Stem Cell. 2015 Sep 3;17(3):316-28. doi: 10.1016/j.stem.2015.07.017. Epub 2015 Aug 13.

13.

Brain malformations in a patient with deletion 2p16.1: A refinement of the phenotype to BCL11A.

Balci TB, Sawyer SL, Davila J, Humphreys P, Dyment DA.

Eur J Med Genet. 2015 Jun-Jul;58(6-7):351-4. doi: 10.1016/j.ejmg.2015.04.006. Epub 2015 May 13.

PMID:
25979662
14.

Autism and Intellectual Disability-Associated KIRREL3 Interacts with Neuronal Proteins MAP1B and MYO16 with Potential Roles in Neurodevelopment.

Liu YF, Sowell SM, Luo Y, Chaubey A, Cameron RS, Kim HG, Srivastava AK.

PLoS One. 2015 Apr 22;10(4):e0123106. doi: 10.1371/journal.pone.0123106. eCollection 2015.

15.

Phenotypic and molecular insights into CASK-related disorders in males.

Moog U, Bierhals T, Brand K, Bautsch J, Biskup S, Brune T, Denecke J, de Die-Smulders CE, Evers C, Hempel M, Henneke M, Yntema H, Menten B, Pietz J, Pfundt R, Schmidtke J, Steinemann D, Stumpel CT, Van Maldergem L, Kutsche K.

Orphanet J Rare Dis. 2015 Apr 12;10:44. doi: 10.1186/s13023-015-0256-3.

16.

Late-onset epileptic spasms in a female patient with a CASK mutation.

Nakajiri T, Kobayashi K, Okamoto N, Oka M, Miya F, Kosaki K, Yoshinaga H.

Brain Dev. 2015 Oct;37(9):919-23. doi: 10.1016/j.braindev.2015.02.007. Epub 2015 Mar 9. Review.

PMID:
25765806
17.

Novel FRMD7 Mutations and Genomic Rearrangement Expand the Molecular Pathogenesis of X-Linked Idiopathic Infantile Nystagmus.

AlMoallem B, Bauwens M, Walraedt S, Delbeke P, De Zaeytijd J, Kestelyn P, Meire F, Janssens S, van Cauwenbergh C, Verdin H, Hooghe S, Kumar Thakur P, Coppieters F, De Leeneer K, Devriendt K, Leroy BP, De Baere E.

Invest Ophthalmol Vis Sci. 2015 Feb 12;56(3):1701-10. doi: 10.1167/iovs.14-15938.

PMID:
25678693
19.

An AGEF-1/Arf GTPase/AP-1 ensemble antagonizes LET-23 EGFR basolateral localization and signaling during C. elegans vulva induction.

Skorobogata O, Escobar-Restrepo JM, Rocheleau CE.

PLoS Genet. 2014 Oct 16;10(10):e1004728. doi: 10.1371/journal.pgen.1004728. eCollection 2014 Oct.

20.

The clinical significance of small copy number variants in neurodevelopmental disorders.

Asadollahi R, Oneda B, Joset P, Azzarello-Burri S, Bartholdi D, Steindl K, Vincent M, Cobilanschi J, Sticht H, Baldinger R, Reissmann R, Sudholt I, Thiel CT, Ekici AB, Reis A, Bijlsma EK, Andrieux J, Dieux A, FitzPatrick D, Ritter S, Baumer A, Latal B, Plecko B, Jenni OG, Rauch A.

J Med Genet. 2014 Oct;51(10):677-88. doi: 10.1136/jmedgenet-2014-102588. Epub 2014 Aug 8.

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