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Items: 1 to 20 of 521

1.

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

Helbig KL, Lauerer RJ, Bahr JC, Souza IA, Myers CT, Uysal B, Schwarz N, Gandini MA, Huang S, Keren B, Mignot C, Afenjar A, Billette de Villemeur T, Héron D, Nava C, Valence S, Buratti J, Fagerberg CR, Soerensen KP, Kibaek M, Kamsteeg EJ, Koolen DA, Gunning B, Schelhaas HJ, Kruer MC, Fox J, Bakhtiari S, Jarrar R, Padilla-Lopez S, Lindstrom K, Jin SC, Zeng X, Bilguvar K, Papavasileiou A, Xin Q, Zhu C, Boysen K, Vairo F, Lanpher BC, Klee EW, Tillema JM, Payne ET, Cousin MA, Kruisselbrink TM, Wick MJ, Baker J, Haan E, Smith N, Corbett MA, MacLennan AH, Gecz J, Biskup S, Goldmann E, Rodan LH, Kichula E, Segal E, Jackson KE, Asamoah A, Dimmock D, McCarrier J, Botto LD, Filloux F, Tvrdik T, Cascino GD, Klingerman S, Neumann C, Wang R, Jacobsen JC, Nolan MA, Snell RG, Lehnert K, Sadleir LG, Anderlid BM, Kvarnung M, Guerrini R, Friez MJ, Lyons MJ, Leonhard J, Kringlen G, Casas K, El Achkar CM, Smith LA, Rotenberg A, Poduri A, Sanchis-Juan A, Carss KJ, Rankin J, Zeman A, Raymond FL, Blyth M, Kerr B, Ruiz K, Urquhart J, Hughes I, Banka S; Deciphering Developmental Disorders Study, Hedrich UBS, Scheffer IE, Helbig I, Zamponi GW, Lerche H, Mefford HC.

Am J Hum Genet. 2018 Nov 1;103(5):666-678. doi: 10.1016/j.ajhg.2018.09.006. Epub 2018 Oct 18.

PMID:
30343943
2.

Genetic variation affecting DNA methylation and the human imprinting disorder, Beckwith-Wiedemann syndrome.

Dagar V, Hutchison W, Muscat A, Krishnan A, Hoke D, Buckle A, Siswara P, Amor DJ, Mann J, Pinner J, Colley A, Wilson M, Sachdev R, McGillivray G, Edwards M, Kirk E, Collins F, Jones K, Taylor J, Hayes I, Thompson E, Barnett C, Haan E, Freckmann ML, Turner A, White S, Kamien B, Ma A, Mackenzie F, Baynam G, Kiraly-Borri C, Field M, Dudding-Byth T, Algar EM.

Clin Epigenetics. 2018 Aug 30;10(1):114. doi: 10.1186/s13148-018-0546-4.

3.

Failure to Rescue - a Closer Look at Mortality Rates Has No Added Value for Hospital Comparisons but Is Useful for Team Quality Assessment in Abdominal Aortic Aneurysm Surgery in The Netherlands.

Lijftogt N, Karthaus EG, Vahl A, van Zwet EW, van der Willik EM, Tollenaar RAEM, Hamming JF, Wouters MWJM; Dutch Society of Vascular Surgery; Steering Committee of the Dutch Surgical Aneurysm Audit; Dutch Institute for Clinical Auditing.

Eur J Vasc Endovasc Surg. 2018 Nov;56(5):652-661. doi: 10.1016/j.ejvs.2018.06.062. Epub 2018 Aug 23.

PMID:
30145163
4.

The Dutch Audit of Carotid Interventions: Transparency in Quality of Carotid Endarterectomy in Symptomatic Patients in the Netherlands.

Karthaus EG, Vahl A, Kuhrij LS, Elsman BHP, Geelkerken RH, Wouters MWJM, Hamming JF, de Borst GJ; Dutch Society of Vascular Surgery; Steering Committee of the Dutch Audit for Carotid Interventions; Dutch Institute for Clinical Auditing.

Eur J Vasc Endovasc Surg. 2018 Oct;56(4):476-485. doi: 10.1016/j.ejvs.2018.05.030. Epub 2018 Aug 1.

PMID:
30077438
5.

Mediating Mechanisms in Cognitive Behavioral Therapy for Childhood OCD: The Role of Dysfunctional Beliefs.

Wolters LH, Prins PJM, Garst GJA, Hogendoorn SM, Boer F, Vervoort L, de Haan E.

Child Psychiatry Hum Dev. 2018 Jul 21. doi: 10.1007/s10578-018-0830-8. [Epub ahead of print]

PMID:
30032391
6.

Mutations in the Epithelial Cadherin-p120-Catenin Complex Cause Mendelian Non-Syndromic Cleft Lip with or without Cleft Palate.

Cox LL, Cox TC, Moreno Uribe LM, Zhu Y, Richter CT, Nidey N, Standley JM, Deng M, Blue E, Chong JX, Yang Y, Carstens RP, Anand D, Lachke SA, Smith JD, Dorschner MO, Bedell B, Kirk E, Hing AV, Venselaar H, Valencia-Ramirez LC, Bamshad MJ, Glass IA, Cooper JA, Haan E, Nickerson DA, van Bokhoven H, Zhou H, Krahn KN, Buckley MF, Murray JC, Lidral AC, Roscioli T.

Am J Hum Genet. 2018 Jun 7;102(6):1143-1157. doi: 10.1016/j.ajhg.2018.04.009. Epub 2018 May 24.

PMID:
29805042
7.

Author Correction: Susceptible genes and disease mechanisms identified in frontotemporal dementia and frontotemporal dementia with Amyotrophic Lateral Sclerosis by DNA-methylation and GWAS.

Taskesen E, Mishra A, van der Sluis S, Ferrari R; International FTD-Genomics Consortium, Veldink JH, van Es MA, Smit AB, Posthuma D, Pijnenburg Y.

Sci Rep. 2018 May 14;8(1):7789. doi: 10.1038/s41598-018-21308-x.

8.

Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder.

Frints SGM, Ozanturk A, Rodríguez Criado G, Grasshoff U, de Hoon B, Field M, Manouvrier-Hanu S, E Hickey S, Kammoun M, Gripp KW, Bauer C, Schroeder C, Toutain A, Mihalic Mosher T, Kelly BJ, White P, Dufke A, Rentmeester E, Moon S, Koboldt DC, van Roozendaal KEP, Hu H, Haas SA, Ropers HH, Murray L, Haan E, Shaw M, Carroll R, Friend K, Liebelt J, Hobson L, De Rademaeker M, Geraedts J, Fryns JP, Vermeesch J, Raynaud M, Riess O, Gribnau J, Katsanis N, Devriendt K, Bauer P, Gecz J, Golzio C, Gontan C, Kalscheuer VM.

Mol Psychiatry. 2018 May 4. doi: 10.1038/s41380-018-0065-x. [Epub ahead of print]

PMID:
29728705
9.

Eight-year follow-up of a randomized clinical trial comparing ultrasound-guided foam sclerotherapy with surgical stripping of the great saphenous vein.

Lam YL, Lawson JA, Toonder IM, Shadid NH, Sommer A, Veenstra M, van der Kleij AMJ, Ceulen RP, de Haan E, Ibrahim F, van Dooren T, Nieman FH, Wittens CHA.

Br J Surg. 2018 May;105(6):692-698. doi: 10.1002/bjs.10762.

PMID:
29652081
10.

CXCR4 involvement in neurodegenerative diseases.

Bonham LW, Karch CM, Fan CC, Tan C, Geier EG, Wang Y, Wen N, Broce IJ, Li Y, Barkovich MJ, Ferrari R, Hardy J, Momeni P, Höglinger G, Müller U, Hess CP, Sugrue LP, Dillon WP, Schellenberg GD, Miller BL, Andreassen OA, Dale AM, Barkovich AJ, Yokoyama JS, Desikan RS; International FTD-Genomics Consortium (IFGC); International Parkinson’s Disease Genetics Consortium (IPDGC); International Genomics of Alzheimer’s Project (IGAP).

Transl Psychiatry. 2018 Apr 11;8(1):73. doi: 10.1038/s41398-017-0049-7.

11.

Action blindsight and antipointing in a hemianopic patient.

Smits AR, Seijdel N, Scholte HS, Heywood CA, Kentridge RW, de Haan EHF.

Neuropsychologia. 2018 Mar 28. pii: S0028-3932(18)30122-2. doi: 10.1016/j.neuropsychologia.2018.03.029. [Epub ahead of print]

12.

A comparison of visual working memory and episodic memory performance in younger and older adults.

Lugtmeijer S, de Haan EHF, Kessels RPC.

Neuropsychol Dev Cogn B Aging Neuropsychol Cogn. 2018 Mar 20:1-20. doi: 10.1080/13825585.2018.1451480. [Epub ahead of print]

PMID:
29557261
13.

Heritable DNA methylation marks associated with susceptibility to breast cancer.

Joo JE, Dowty JG, Milne RL, Wong EM, Dugué PA, English D, Hopper JL, Goldgar DE, Giles GG, Southey MC; kConFab.

Nat Commun. 2018 Feb 28;9(1):867. doi: 10.1038/s41467-018-03058-6.

14.

Immune-related genetic enrichment in frontotemporal dementia: An analysis of genome-wide association studies.

Broce I, Karch CM, Wen N, Fan CC, Wang Y, Tan CH, Kouri N, Ross OA, Höglinger GU, Muller U, Hardy J; International FTD-Genomics Consortium, Momeni P, Hess CP, Dillon WP, Miller ZA, Bonham LW, Rabinovici GD, Rosen HJ, Schellenberg GD, Franke A, Karlsen TH, Veldink JH, Ferrari R, Yokoyama JS, Miller BL, Andreassen OA, Dale AM, Desikan RS, Sugrue LP.

PLoS Med. 2018 Jan 9;15(1):e1002487. doi: 10.1371/journal.pmed.1002487. eCollection 2018 Jan. Erratum in: PLoS Med. 2018 Jan 29;15(1):e1002504.

15.

Where are we now with 'What' and 'How'?

de Haan EHF, Jackson SR, Schenk T.

Cortex. 2018 Jan;98:1-7. doi: 10.1016/j.cortex.2017.12.001. Epub 2017 Dec 13. No abstract available.

PMID:
29290335
16.

A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations.

Lee E, Le T, Zhu Y, Elakis G, Turner A, Lo W, Venselaar H, Verrenkamp CA, Snow N, Mowat D, Kirk EP, Sachdev R, Smith J, Brown NJ, Wallis M, Barnett C, McKenzie F, Freckmann ML, Collins F, Chopra M, Gregersen N, Hayes I, Rajagopalan S, Tan TY, Stark Z, Savarirayan R, Yeung A, Adès L, Gattas M, Gibson K, Gabbett M, Amor DJ, Lattanzi W, Boyd S, Haan E, Gianoutsos M, Cox TC, Buckley MF, Roscioli T.

Genet Med. 2018 Sep;20(9):1061-1068. doi: 10.1038/gim.2017.214. Epub 2017 Dec 7.

PMID:
29215649
17.

Visual pathways from the perspective of cost functions and multi-task deep neural networks.

Scholte HS, Losch MM, Ramakrishnan K, de Haan EHF, Bohte SM.

Cortex. 2018 Jan;98:249-261. doi: 10.1016/j.cortex.2017.09.019. Epub 2017 Oct 7. Review.

PMID:
29150140
18.

Cross-cueing cannot explain unified control in split-brain patients.

Pinto Y, Lamme VAF, de Haan EHF.

Brain. 2017 Nov 1;140(11):e68. doi: 10.1093/brain/awx235. No abstract available.

PMID:
29053765
19.

The Split-Brain Phenomenon Revisited: A Single Conscious Agent with Split Perception.

Pinto Y, de Haan EHF, Lamme VAF.

Trends Cogn Sci. 2017 Nov;21(11):835-851. doi: 10.1016/j.tics.2017.09.003. Epub 2017 Sep 25. Review.

PMID:
28958646
20.

Susceptible genes and disease mechanisms identified in frontotemporal dementia and frontotemporal dementia with Amyotrophic Lateral Sclerosis by DNA-methylation and GWAS.

Taskesen E, Mishra A, van der Sluis S, Ferrari R; International FTD-Genomics Consortium, Veldink JH, van Es MA, Smit AB, Posthuma D, Pijnenburg Y.

Sci Rep. 2017 Aug 21;7(1):8899. doi: 10.1038/s41598-017-09320-z. Erratum in: Sci Rep. 2018 May 14;8(1):7789.

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