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Items: 24

1.

Heterogeneous clinical phenotypes and cerebral malformations reflected by rotatin cellular dynamics.

Vandervore LV, Schot R, Kasteleijn E, Oegema R, Stouffs K, Gheldof A, Grochowska MM, van der Sterre MLT, van Unen LMA, Wilke M, Elfferich P, van der Spek PJ, Heijsman D, Grandone A, Demmers JAA, Dekkers DHW, Slotman JA, Kremers GJ, Schaaf GJ, Masius RG, van Essen AJ, Rump P, van Haeringen A, Peeters E, Altunoglu U, Kalayci T, Poot RA, Dobyns WB, Bahi-Buisson N, Verheijen FW, Jansen AC, Mancini GMS.

Brain. 2019 Apr 1;142(4):867-884. doi: 10.1093/brain/awz045. Erratum in: Brain. 2019 Jun 1;142(6):e29.

2.

Mutated zinc finger protein of the cerebellum 1 leads to microcephaly, cortical malformation, callosal agenesis, cerebellar dysplasia, tethered cord and scoliosis.

Vandervore LV, Schot R, Hoogeboom AJM, Lincke C, de Coo IF, Lequin MH, Dremmen M, van Unen LMA, Saris JJ, Jansen AC, van Slegtenhorst MA, Wilke M, Mancini GMS.

Eur J Med Genet. 2018 Dec;61(12):783-789. doi: 10.1016/j.ejmg.2018.10.018. Epub 2018 Oct 31.

PMID:
30391508
3.

Variants in members of the cadherin-catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome.

Kievit A, Tessadori F, Douben H, Jordens I, Maurice M, Hoogeboom J, Hennekam R, Nampoothiri S, Kayserili H, Castori M, Whiteford M, Motter C, Melver C, Cunningham M, Hing A, Kokitsu-Nakata NM, Vendramini-Pittoli S, Richieri-Costa A, Baas AF, Breugem CC, Duran K, Massink M, Derksen PWB, van IJcken WFJ, van Unen L, Santos-Simarro F, Lapunzina P, Gil-da Silva Lopes VL, Lustosa-Mendes E, Krall M, Slavotinek A, Martinez-Glez V, Bakkers J, van Gassen KLI, de Klein A, van den Boogaard MH, van Haaften G.

Eur J Hum Genet. 2018 Feb;26(2):210-219. doi: 10.1038/s41431-017-0010-5. Epub 2018 Jan 18.

4.

Correction: Human mutations in integrator complex subunits link transcriptome integrity to brain development.

Oegema R, Baillat D, Schot R, van Unen LM, Brooks A, Kia SK, Hoogeboom AJM, Xia Z, Li W, Cesaroni M, Lequin MH, van Slegtenhorst M, Dobyns WB, de Coo IFM, van den Berg D, Verheijen FW, Kremer A, van der Spek PJ, Heijsman D, Wagner EJ, Fornerod M, Mancini GMS.

PLoS Genet. 2017 Aug 1;13(8):e1006923. doi: 10.1371/journal.pgen.1006923. eCollection 2017 Aug.

5.

Human mutations in integrator complex subunits link transcriptome integrity to brain development.

Oegema R, Baillat D, Schot R, van Unen LM, Brooks A, Kia SK, Hoogeboom AJM, Xia Z, Li W, Cesaroni M, Lequin MH, van Slegtenhorst M, Dobyns WB, de Coo IFM, Verheijen FW, Kremer A, van der Spek PJ, Heijsman D, Wagner EJ, Fornerod M, Mancini GMS.

PLoS Genet. 2017 May 25;13(5):e1006809. doi: 10.1371/journal.pgen.1006809. eCollection 2017 May. Erratum in: PLoS Genet. 2017 Aug 1;13(8):e1006923.

6.

Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome.

Meuwissen ME, Schot R, Buta S, Oudesluijs G, Tinschert S, Speer SD, Li Z, van Unen L, Heijsman D, Goldmann T, Lequin MH, Kros JM, Stam W, Hermann M, Willemsen R, Brouwer RW, Van IJcken WF, Martin-Fernandez M, de Coo I, Dudink J, de Vries FA, Bertoli Avella A, Prinz M, Crow YJ, Verheijen FW, Pellegrini S, Bogunovic D, Mancini GM.

J Exp Med. 2016 Jun 27;213(7):1163-74. doi: 10.1084/jem.20151529. Epub 2016 Jun 20.

7.

Severe presentation of WDR62 mutation: is there a role for modifying genetic factors?

Poulton CJ, Schot R, Seufert K, Lequin MH, Accogli A, Annunzio GD, Villard L, Philip N, de Coo R, Catsman-Berrevoets C, Grasshoff U, Kattentidt-Mouravieva A, Calf H, de Vreugt-Gronloh E, van Unen L, Verheijen FW, Galjart N, Morris-Rosendahl DJ, Mancini GM.

Am J Med Genet A. 2014 Sep;164A(9):2161-71. doi: 10.1002/ajmg.a.36611. Epub 2014 May 19.

PMID:
24842779
8.

Novel no-stop FLNA mutation causes multi-organ involvement in males.

Oegema R, Hulst JM, Theuns-Valks SD, van Unen LM, Schot R, Mancini GM, Schipper ME, de Wit MC, Sibbles BJ, de Coo IF, Nanninga V, Hofstra RM, Halley DJ, Brooks AS.

Am J Med Genet A. 2013 Sep;161A(9):2376-84. doi: 10.1002/ajmg.a.36109. Epub 2013 Jul 19.

PMID:
23873601
9.

The TSC1-TSC2 complex consists of multiple TSC1 and TSC2 subunits.

Hoogeveen-Westerveld M, van Unen L, van den Ouweland A, Halley D, Hoogeveen A, Nellist M.

BMC Biochem. 2012 Sep 24;13:18. doi: 10.1186/1471-2091-13-18.

10.

Novel RNA-binding properties of the MTG chromatin regulatory proteins.

Rossetti S, van Unen L, Sacchi N, Hoogeveen AT.

BMC Mol Biol. 2008 Oct 24;9:93. doi: 10.1186/1471-2199-9-93.

11.

Myeloid maturation block by AML1-MTG16 is associated with Csf1r epigenetic downregulation.

Rossetti S, Van Unen L, Touw IP, Hoogeveen AT, Sacchi N.

Oncogene. 2005 Aug 11;24(34):5325-32.

PMID:
16007222
12.

Prospects of TAT-mediated protein therapy for fragile X syndrome.

Reis SA, Willemsen R, van Unen L, Hoogeveen AT, Oostra BA.

J Mol Histol. 2004 May;35(4):389-95.

PMID:
15503812
13.

Loss of FMR1 hypermethylation in somatic cell heterokaryons.

Stoyanova V, Rossetti S, VAN Unen L, Oostra BA, Hoogeveen AT.

FASEB J. 2004 Dec;18(15):1964-6. Epub 2004 Sep 17.

PMID:
15377638
14.

The FMR1 CGG repeat mouse displays ubiquitin-positive intranuclear neuronal inclusions; implications for the cerebellar tremor/ataxia syndrome.

Willemsen R, Hoogeveen-Westerveld M, Reis S, Holstege J, Severijnen LA, Nieuwenhuizen IM, Schrier M, van Unen L, Tassone F, Hoogeveen AT, Hagerman PJ, Mientjes EJ, Oostra BA.

Hum Mol Genet. 2003 May 1;12(9):949-59.

PMID:
12700164
15.

The transcriptional corepressor MTG16a contains a novel nucleolar targeting sequence deranged in t (16; 21)-positive myeloid malignancies.

Hoogeveen AT, Rossetti S, Stoyanova V, Schonkeren J, Fenaroli A, Schiaffonati L, van Unen L, Sacchi N.

Oncogene. 2002 Sep 26;21(43):6703-12.

16.

The fragile X-related proteins FXR1P and FXR2P contain a functional nucleolar-targeting signal equivalent to the HIV-1 regulatory proteins.

Tamanini F, Kirkpatrick LL, Schonkeren J, van Unen L, Bontekoe C, Bakker C, Nelson DL, Galjaard H, Oostra BA, Hoogeveen AT.

Hum Mol Genet. 2000 Jun 12;9(10):1487-93.

PMID:
10888599
17.

Oligomerization properties of fragile-X mental-retardation protein (FMRP) and the fragile-X-related proteins FXR1P and FXR2P.

Tamanini F, Van Unen L, Bakker C, Sacchi N, Galjaard H, Oostra BA, Hoogeveen AT.

Biochem J. 1999 Nov 1;343 Pt 3:517-23.

18.

Different targets for the fragile X-related proteins revealed by their distinct nuclear localizations.

Tamanini F, Bontekoe C, Bakker CE, van Unen L, Anar B, Willemsen R, Yoshida M, Galjaard H, Oostra BA, Hoogeveen AT.

Hum Mol Genet. 1999 May;8(5):863-9.

PMID:
10196376
19.

Thermodynamic analysis of the interaction between a bactericidal antibody and a PorA epitope of Neisseria meningitidis.

van den Elsen JM, van Unen LM, van Bloois L, Busquets MA, Jiskoot W, Hoogerhout P, Wilting J, Herron JN, Crommelin DJ.

Biochemistry. 1997 Oct 14;36(41):12583-91.

PMID:
9376364
20.

Differential expression of FMR1, FXR1 and FXR2 proteins in human brain and testis.

Tamanini F, Willemsen R, van Unen L, Bontekoe C, Galjaard H, Oostra BA, Hoogeveen AT.

Hum Mol Genet. 1997 Aug;6(8):1315-22.

PMID:
9259278
21.

Epitope specificity of murine and human bactericidal antibodies against PorA P1.7,16 induced with experimental meningococcal group B vaccines.

Rouppe van der Voort EM, Kuipers B, Brugghe HF, van Unen LM, Timmermans HA, Hoogerhout P, Poolman JT.

FEMS Immunol Med Microbiol. 1997 Mar;17(3):139-48.

22.

T-cell responses to outer membrane proteins of Neisseria meningitidis: comparative study of the Opa, Opc, and PorA proteins.

Wiertz EJ, Delvig A, Donders EM, Brugghe HF, van Unen LM, Timmermans HA, Achtman M, Hoogerhout P, Poolman JT.

Infect Immun. 1996 Jan;64(1):298-304.

23.

Conjugates of synthetic cyclic peptides elicit bactericidal antibodies against a conformational epitope on a class 1 outer membrane protein of Neisseria meningitidis.

Hoogerhout P, Donders EM, van Gaans-van den Brink JA, Kuipers B, Brugghe HF, van Unen LM, Timmermans HA, ten Hove GJ, de Jong AP, Peeters CC, et al.

Infect Immun. 1995 Sep;63(9):3473-8.

24.

Simultaneous multiple synthesis and selective conjugation of cyclized peptides derived from a surface loop of a meningococcal class 1 outer membrane protein.

Brugghe HF, Timmermans HA, Van Unen LM, Ten Hove GJ, Van de Werken G, Poolman JT, Hoogerhout P.

Int J Pept Protein Res. 1994 Feb;43(2):166-72.

PMID:
8200735

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