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Items: 17

1.

Identification and Directed Development of Non-Organic Catalysts with Apparent Pan-Enzymatic Mimicry into Nanozymes for Efficient Prodrug Conversion.

Walther R, Winther AK, Fruergaard AS, van den Akker W, Sørensen L, Nielsen SM, Jarlstad Olesen MT, Dai Y, Jeppesen HS, Lamagni P, Savateev A, Pedersen SL, Frich CK, Vigier-Carrière C, Lock N, Singh M, Bansal V, Meyer RL, Zelikin AN.

Angew Chem Int Ed Engl. 2019 Jan 2;58(1):278-282. doi: 10.1002/anie.201812668. Epub 2018 Nov 28.

PMID:
30408323
2.

De novo variants in CDK13 associated with syndromic ID/DD: Molecular and clinical delineation of 15 individuals and a further review.

van den Akker WMR, Brummelman I, Martis LM, Timmermans RN, Pfundt R, Kleefstra T, Willemsen MH, Gerkes EH, Herkert JC, van Essen AJ, Rump P, Vansenne F, Terhal PA, van Haelst MM, Cristian I, Turner CE, Cho MT, Begtrup A, Willaert R, Fassi E, van Gassen KLI, Stegmann APA, de Vries BBA, Schuurs-Hoeijmakers JHM.

Clin Genet. 2018 May;93(5):1000-1007. doi: 10.1111/cge.13225.

PMID:
29393965
3.

Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia.

Schuurs-Hoeijmakers JH, Geraghty MT, Kamsteeg EJ, Ben-Salem S, de Bot ST, Nijhof B, van de Vondervoort II, van der Graaf M, Nobau AC, Otte-Höller I, Vermeer S, Smith AC, Humphreys P, Schwartzentruber J; FORGE Canada Consortium, Ali BR, Al-Yahyaee SA, Tariq S, Pramathan T, Bayoumi R, Kremer HP, van de Warrenburg BP, van den Akker WM, Gilissen C, Veltman JA, Janssen IM, Vulto-van Silfhout AT, van der Velde-Visser S, Lefeber DJ, Diekstra A, Erasmus CE, Willemsen MA, Vissers LE, Lammens M, van Bokhoven H, Brunner HG, Wevers RA, Schenck A, Al-Gazali L, de Vries BB, de Brouwer AP.

Am J Hum Genet. 2012 Dec 7;91(6):1073-81. doi: 10.1016/j.ajhg.2012.10.017. Epub 2012 Nov 21.

4.

Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability.

Kleefstra T, Kramer JM, Neveling K, Willemsen MH, Koemans TS, Vissers LE, Wissink-Lindhout W, Fenckova M, van den Akker WM, Kasri NN, Nillesen WM, Prescott T, Clark RD, Devriendt K, van Reeuwijk J, de Brouwer AP, Gilissen C, Zhou H, Brunner HG, Veltman JA, Schenck A, van Bokhoven H.

Am J Hum Genet. 2012 Jul 13;91(1):73-82. doi: 10.1016/j.ajhg.2012.05.003. Epub 2012 Jun 21.

5.

Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation.

Lefeber DJ, de Brouwer AP, Morava E, Riemersma M, Schuurs-Hoeijmakers JH, Absmanner B, Verrijp K, van den Akker WM, Huijben K, Steenbergen G, van Reeuwijk J, Jozwiak A, Zucker N, Lorber A, Lammens M, Knopf C, van Bokhoven H, Grünewald S, Lehle L, Kapusta L, Mandel H, Wevers RA.

PLoS Genet. 2011 Dec;7(12):e1002427. doi: 10.1371/journal.pgen.1002427. Epub 2011 Dec 29.

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Comparative functional analysis provides evidence for a crucial role for the homeobox gene Nkx2.1/Titf-1 in forebrain evolution.

van den Akker WM, Brox A, Puelles L, Durston AJ, Medina L.

J Comp Neurol. 2008 Jan 10;506(2):211-23.

PMID:
18022953
8.

Sp8 controls the anteroposterior patterning at the midbrain-hindbrain border.

Griesel G, Treichel D, Collombat P, Krull J, Zembrzycki A, van den Akker WM, Gruss P, Simeone A, Mansouri A.

Development. 2006 May;133(9):1779-87. Epub 2006 Mar 29.

9.

Knockdown of the complete Hox paralogous group 1 leads to dramatic hindbrain and neural crest defects.

McNulty CL, Peres JN, Bardine N, van den Akker WM, Durston AJ.

Development. 2005 Jun;132(12):2861-71.

10.

Structure and biological activity of the short-chain lipopolysaccharide from Bartonella henselae ATCC 49882T.

Zähringer U, Lindner B, Knirel YA, van den Akker WM, Hiestand R, Heine H, Dehio C.

J Biol Chem. 2004 May 14;279(20):21046-54. Epub 2004 Feb 7.

11.

A homozygous nonsense mutation in the fukutin gene causes a Walker-Warburg syndrome phenotype.

de Bernabé DB, van Bokhoven H, van Beusekom E, Van den Akker W, Kant S, Dobyns WB, Cormand B, Currier S, Hamel B, Talim B, Topaloglu H, Brunner HG.

J Med Genet. 2003 Nov;40(11):845-8. No abstract available.

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Mutational analysis of the Bordetella pertussis fim/fha gene cluster: identification of a gene with sequence similarities to haemolysin accessory genes involved in export of FHA.

Willems RJ, Geuijen C, van der Heide HG, Renauld G, Bertin P, van den Akker WM, Locht C, Mooi FR.

Mol Microbiol. 1994 Jan;11(2):337-47.

PMID:
8170396
16.

Detection of HIV antibodies in saliva as a tool for epidemiological studies.

van den Akker R, van den Hoek JA, van den Akker WM, Kooy H, Vijge E, Roosendaal G, Coutinho RA, van Loon AM.

AIDS. 1992 Sep;6(9):953-7.

PMID:
1388907
17.

Proteolytic activation of a bovine brain protein with phosphatidylinositol transfer activity.

van den Akker WM, Westerman J, Gadella TW Jr, Wirtz KW, Snoek GT.

FEBS Lett. 1990 Dec 10;276(1-2):123-6.

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