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Items: 1 to 50 of 232

1.

Segmental and total uniparental isodisomy (UPiD) as a disease mechanism in autosomal recessive lysosomal disorders: evidence from SNP arrays.

Labrijn-Marks I, Somers-Bolman GM, In 't Groen SLM, Hoogeveen-Westerveld M, Kroos MA, Ala-Mello S, Amaral O, Miranda CS, Mavridou I, Michelakakis H, Naess K, Verheijen FW, Hoefsloot LH, Dijkhuizen T, Benjamins M, van den Hout HJM, van der Ploeg AT, Pijnappel WWMP, Saris JJ, Halley DJ.

Eur J Hum Genet. 2019 Jun;27(6):919-927. doi: 10.1038/s41431-019-0348-y. Epub 2019 Feb 8.

PMID:
30737479
2.

Solar and terrestrial radiations explain continental-scale variation in bird pigmentation.

Galván I, Jorge A, Pacheco C, Spencer D, Halley DJ, Itty C, Kornan J, Nielsen JT, Ollila T, Sein G, Stój M, Negro JJ.

Oecologia. 2018 Nov;188(3):683-693. doi: 10.1007/s00442-018-4238-8. Epub 2018 Aug 9.

PMID:
30094635
3.

Development and Function of Immune Cells in an Adolescent Patient With a Deficiency in the Interleukin-10 Receptor.

Veenbergen S, van Leeuwen MA, Driessen GJ, Kersseboom R, de Ruiter LF, Raatgeep RHC, Lindenbergh-Kortleve DJ, Simons-Oosterhuis Y, Biermann K, Halley DJJ, de Ridder L, Escher JC, Samsom JN.

J Pediatr Gastroenterol Nutr. 2017 Jul;65(1):e5-e15. doi: 10.1097/MPG.0000000000001559.

PMID:
28644354
4.

Evidence of a permanent electric polarisation in highly strained Cr2O3 clusters measured by a second harmonic generation technique.

Hamieh M, Dorkenoo KD, Taupier G, Henry Y, Halley D.

J Phys Condens Matter. 2017 May 24;29(20):205301. doi: 10.1088/1361-648X/aa68f8. Epub 2017 Mar 24.

PMID:
28338475
5.

Conductance Oscillations in a Graphene/Nanocluster Hybrid Material: Toward Large-Area Single-Electron Devices.

Godel F, Mouafo LD, Froehlicher G, Doudin B, Berciaud S, Henry Y, Dayen JF, Halley D.

Adv Mater. 2017 Jan;29(3). doi: 10.1002/adma.201604837. Epub 2016 Nov 21.

PMID:
27869338
6.

Phosphatidylinositol 3-kinase/Akt pathway regulates tuberous sclerosis tumor suppressor complex by phosphorylation of tuberin.

Dan HC, Sun M, Yang L, Feldman RI, Sui XM, Ou CC, Nellist M, Yeung RS, Halley DJ, Nicosia SV, Pledger WJ, Cheng JQ.

J Biol Chem. 2016 Oct 21;291(43):22848. No abstract available.

7.

Optical Writing of Magnetic Properties by Remanent Photostriction.

Iurchuk V, Schick D, Bran J, Colson D, Forget A, Halley D, Koc A, Reinhardt M, Kwamen C, Morley NA, Bargheer M, Viret M, Gumeniuk R, Schmerber G, Doudin B, Kundys B.

Phys Rev Lett. 2016 Sep 2;117(10):107403. doi: 10.1103/PhysRevLett.117.107403. Epub 2016 Sep 1.

8.

Voltage-dependent magnetic phase transition in magneto-electric epitaxial Cr2O3 nanoclusters.

Halley D, Najjari N, Godel F, Hamieh M, Doudin B, Henry Y.

Nanotechnology. 2016 Jun 17;27(24):245706. doi: 10.1088/0957-4484/27/24/245706. Epub 2016 May 9.

PMID:
27159190
9.

No evidence for stopping long-term aspirin therapy before tooth extraction.

Halley D, Weld-Moore R, Duane B.

Evid Based Dent. 2015 Dec;16(4):118-9. doi: 10.1038/sj.ebd.6401137.

PMID:
26680524
10.

Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects.

Vrijenhoek T, Kraaijeveld K, Elferink M, de Ligt J, Kranendonk E, Santen G, Nijman IJ, Butler D, Claes G, Costessi A, Dorlijn W, van Eyndhoven W, Halley DJ, van den Hout MC, van Hove S, Johansson LF, Jongbloed JD, Kamps R, Kockx CE, de Koning B, Kriek M, Deprez RL, Lunstroo H, Mannens M, Mook OR, Nelen M, Ploem C, Rijnen M, Saris JJ, Sinke R, Sistermans E, van Slegtenhorst M, Sleutels F, van der Stoep N, van Tienhoven M, Vermaat M, Vogel M, Waisfisz Q, Weiss JM, van den Wijngaard A, van Workum W, Ijntema H, van der Zwaag B, van IJcken WF, den Dunnen JT, Veltman JA, Hennekam R, Cuppen E.

Eur J Hum Genet. 2015 Sep;23(9):1270. doi: 10.1038/ejhg.2015.44. No abstract available.

11.

Targeted Next Generation Sequencing reveals previously unidentified TSC1 and TSC2 mutations.

Nellist M, Brouwer RW, Kockx CE, van Veghel-Plandsoen M, Withagen-Hermans C, Prins-Bakker L, Hoogeveen-Westerveld M, Mrsic A, van den Berg MM, Koopmans AE, de Wit MC, Jansen FE, Maat-Kievit AJ, van den Ouweland A, Halley D, de Klein A, van IJcken WF.

BMC Med Genet. 2015 Feb 25;16:10. doi: 10.1186/s12881-015-0155-4.

12.

The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature.

Meuwissen ME, Halley DJ, Smit LS, Lequin MH, Cobben JM, de Coo R, van Harssel J, Sallevelt S, Woldringh G, van der Knaap MS, de Vries LS, Mancini GM.

Genet Med. 2015 Nov;17(11):843-53. doi: 10.1038/gim.2014.210. Epub 2015 Feb 26. Review.

PMID:
25719457
13.

Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects.

Vrijenhoek T, Kraaijeveld K, Elferink M, de Ligt J, Kranendonk E, Santen G, Nijman IJ, Butler D, Claes G, Costessi A, Dorlijn W, van Eyndhoven W, Halley DJ, van den Hout MC, van Hove S, Johansson LF, Jongbloed JD, Kamps R, Kockx CE, de Koning B, Kriek M, Lekanne Dit Deprez R, Lunstroo H, Mannens M, Mook OR, Nelen M, Ploem C, Rijnen M, Saris JJ, Sinke R, Sistermans E, van Slegtenhorst M, Sleutels F, van der Stoep N, van Tienhoven M, Vermaat M, Vogel M, Waisfisz Q, Marjan Weiss J, van den Wijngaard A, van Workum W, Ijntema H, van der Zwaag B, van IJcken WF, den Dunnen J, Veltman JA, Hennekam R, Cuppen E.

Eur J Hum Genet. 2015 Sep;23(9):1142-50. doi: 10.1038/ejhg.2014.279. Epub 2015 Jan 28. Erratum in: Eur J Hum Genet. 2015 Sep;23(9):1270. Mook, Olaf R [added].

14.

Distance dependence of the energy transfer rate from a single semiconductor nanostructure to graphene.

Federspiel F, Froehlicher G, Nasilowski M, Pedetti S, Mahmood A, Doudin B, Park S, Lee JO, Halley D, Dubertret B, Gilliot P, Berciaud S.

Nano Lett. 2015 Feb 11;15(2):1252-8. doi: 10.1021/nl5044192. Epub 2015 Jan 29.

PMID:
25607231
15.

Identification and Characterization of Aberrant Splicing in Pompe Disease Using a Generic Approach.

Bergsma AJ, Kroos M, Hoogeveen-Westerveld M, Halley D, van der Ploeg AT, Pim Pijnappel WW.

J Neuromuscul Dis. 2015;2(s1):S39. No abstract available.

PMID:
27858633
16.

Identification and characterization of aberrant GAA pre-mRNA splicing in pompe disease using a generic approach.

Bergsma AJ, Kroos M, Hoogeveen-Westerveld M, Halley D, van der Ploeg AT, Pijnappel WW.

Hum Mutat. 2015 Jan;36(1):57-68. doi: 10.1002/humu.22705. Epub 2014 Dec 1.

PMID:
25243733
17.

Localized states in advanced dielectrics from the vantage of spin- and symmetry-polarized tunnelling across MgO.

Schleicher F, Halisdemir U, Lacour D, Gallart M, Boukari S, Schmerber G, Davesne V, Panissod P, Halley D, Majjad H, Henry Y, Leconte B, Boulard A, Spor D, Beyer N, Kieber C, Sternitzky E, Cregut O, Ziegler M, Montaigne F, Beaurepaire E, Gilliot P, Hehn M, Bowen M.

Nat Commun. 2014 Aug 4;5:4547. doi: 10.1038/ncomms5547.

PMID:
25088937
18.

Identification of regions critical for the integrity of the TSC1-TSC2-TBC1D7 complex.

Santiago Lima AJ, Hoogeveen-Westerveld M, Nakashima A, Maat-Kievit A, van den Ouweland A, Halley D, Kikkawa U, Nellist M.

PLoS One. 2014 Apr 8;9(4):e93940. doi: 10.1371/journal.pone.0093940. eCollection 2014.

19.

Brominated and phosphorus flame retardants in White-tailed Eagle Haliaeetus albicilla nestlings: bioaccumulation and associations with dietary proxies (δ¹³C, δ¹⁵N and δ³⁴S).

Eulaers I, Jaspers VL, Halley DJ, Lepoint G, Nygård T, Pinxten R, Covaci A, Eens M.

Sci Total Environ. 2014 Apr 15;478:48-57. doi: 10.1016/j.scitotenv.2014.01.051. Epub 2014 Feb 11.

PMID:
24530584
20.

Antiparasite treatments reduce humoral immunity and impact oxidative status in raptor nestlings.

Hanssen SA, Bustnes JO, Schnug L, Bourgeon S, Johnsen TV, Ballesteros M, Sonne C, Herzke D, Eulaers I, Jaspers VL, Covaci A, Eens M, Halley DJ, Moum T, Ims RA, Erikstad KE.

Ecol Evol. 2013 Dec;3(16):5157-66. doi: 10.1002/ece3.891. Epub 2013 Nov 22.

21.

Size-induced enhanced magnetoelectric effect and multiferroicity in chromium oxide nanoclusters.

Halley D, Najjari N, Majjad H, Joly L, Ohresser P, Scheurer F, Ulhaq-Bouillet C, Berciaud S, Doudin B, Henry Y.

Nat Commun. 2014;5:3167. doi: 10.1038/ncomms4167.

PMID:
24452260
22.

Screening of TGFBR1, TGFBR2, and FLNA in familial mitral valve prolapse.

Aalberts JJ, van Tintelen JP, Oomen T, Bergman JE, Halley DJ, Jongbloed JD, Suurmeijer AJ, van den Berg MP.

Am J Med Genet A. 2014 Jan;164A(1):113-9. doi: 10.1002/ajmg.a.36211. Epub 2013 Nov 15.

PMID:
24243761
23.

Epitaxy of MgO magnetic tunnel barriers on epitaxial graphene.

Godel F, Pichonat E, Vignaud D, Majjad H, Metten D, Henry Y, Berciaud S, Dayen JF, Halley D.

Nanotechnology. 2013 Nov 29;24(47):475708.

PMID:
24192567
24.

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
25.

Plasma concentrations of organohalogenated pollutants in predatory bird nestlings: associations to growth rate and dietary tracers.

Bustnes JO, Bårdsen BJ, Herzke D, Johnsen TV, Eulaers I, Ballesteros M, Hanssen SA, Covaci A, Jaspers VL, Eens M, Sonne C, Halley D, Moum T, Nøst TH, Erikstad KE, Ims RA.

Environ Toxicol Chem. 2013 Nov;32(11):2520-7. doi: 10.1002/etc.2329. Epub 2013 Sep 6.

PMID:
23861300
26.

Elaborating the phenotypic spectrum associated with mutations in ARFGEF2: case study and literature review.

Tanyalçin I, Verhelst H, Halley DJ, Vanderhasselt T, Villard L, Goizet C, Lissens W, Mancini GM, Jansen AC.

Eur J Paediatr Neurol. 2013 Nov;17(6):666-70. doi: 10.1016/j.ejpn.2013.05.002. Epub 2013 Jun 4. Review.

PMID:
23755938
27.

A clinical and genetic overview of 18 years neurofibromatosis type 1 molecular diagnostics in the Netherlands.

van Minkelen R, van Bever Y, Kromosoeto JN, Withagen-Hermans CJ, Nieuwlaat A, Halley DJ, van den Ouweland AM.

Clin Genet. 2014 Apr;85(4):318-27. doi: 10.1111/cge.12187. Epub 2013 Jun 25.

PMID:
23656349
28.

Ecological and spatial factors drive intra- and interspecific variation in exposure of subarctic predatory bird nestlings to persistent organic pollutants.

Eulaers I, Jaspers VL, Bustnes JO, Covaci A, Johnsen TV, Halley DJ, Moum T, Ims RA, Hanssen SA, Erikstad KE, Herzke D, Sonne C, Ballesteros M, Pinxten R, Eens M.

Environ Int. 2013 Jul;57-58:25-33. doi: 10.1016/j.envint.2013.03.009. Epub 2013 Apr 28.

PMID:
23632440
29.

Mucopolysaccharidosis type VI phenotypes-genotypes and antibody response to galsulfase.

Brands MM, Hoogeveen-Westerveld M, Kroos MA, Nobel W, Ruijter GJ, Özkan L, Plug I, Grinberg D, Vilageliu L, Halley DJ, van der Ploeg AT, Reuser AJ.

Orphanet J Rare Dis. 2013 Apr 4;8:51. doi: 10.1186/1750-1172-8-51.

30.

Considering Fabry, but Diagnosing MPS I: Difficulties in the Diagnostic Process.

Langereis EJ, van den Berg IET, Halley DJJ, Poorthuis BJHM, Vaz FM, Wokke JHJ, Linthorst GE.

JIMD Rep. 2013;9:117-120. doi: 10.1007/8904_2012_189. Epub 2012 Oct 30.

31.

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.

32.

Functional assessment of TSC2 variants identified in individuals with tuberous sclerosis complex.

Hoogeveen-Westerveld M, Ekong R, Povey S, Mayer K, Lannoy N, Elmslie F, Bebin M, Dies K, Thompson C, Sparagana SP, Davies P, van Eeghen AM, Thiele EA, van den Ouweland A, Halley D, Nellist M.

Hum Mutat. 2013 Jan;34(1):167-75. doi: 10.1002/humu.22202. Epub 2012 Oct 11. Erratum in: Hum Mutat. 2013 Feb;34(2):408-10. van Eeghen, Agnies M [added]; Thiele, Elizabeth A [added].

PMID:
22903760
33.

Complete FXN deletion in a patient with Friedreich's ataxia.

van den Ouweland AM, van Minkelen R, Bolman GM, Wouters CH, Becht-Noordermeer C, Deelen WH, Deelen-Manders JM, Ippel EP, Saris J, Halley DJ.

Genet Test Mol Biomarkers. 2012 Sep;16(9):1015-8. doi: 10.1089/gtmb.2012.0012. Epub 2012 Jun 12.

PMID:
22691228
34.

Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants.

Kroos M, Hoogeveen-Westerveld M, Michelakakis H, Pomponio R, Van der Ploeg A, Halley D, Reuser A; GAA Database Consortium.

Hum Mutat. 2012 Aug;33(8):1161-5. doi: 10.1002/humu.22108. Epub 2012 May 29.

PMID:
22644586
35.

Asymmetric polymicrogyria and periventricular nodular heterotopia due to mutation in ARX.

Oegema R, Maat-Kievit A, Lequin MH, Schot R, Nanninga-van den Neste VM, Doornbos ME, de Wit MC, Halley DJ, Mancini GM.

Am J Med Genet A. 2012 Jun;158A(6):1472-6. doi: 10.1002/ajmg.a.35365. Epub 2012 May 14.

PMID:
22585566
36.

Blood plasma clinical-chemical parameters as biomarker endpoints for organohalogen contaminant exposure in Norwegian raptor nestlings.

Sonne C, Bustnes JO, Herzke D, Jaspers VL, Covaci A, Eulaers I, Halley DJ, Moum T, Ballesteros M, Eens M, Ims RA, Hanssen SA, Erikstad KE, Johnsen TV, Rigét FF, Jensen AL, Kjelgaard-Hansen M.

Ecotoxicol Environ Saf. 2012 Jun;80:76-83. doi: 10.1016/j.ecoenv.2012.02.012. Epub 2012 Mar 24.

PMID:
22445502
37.

COL4A2 mutation associated with familial porencephaly and small-vessel disease.

Verbeek E, Meuwissen ME, Verheijen FW, Govaert PP, Licht DJ, Kuo DS, Poulton CJ, Schot R, Lequin MH, Dudink J, Halley DJ, de Coo RI, den Hollander JC, Oegema R, Gould DB, Mancini GM.

Eur J Hum Genet. 2012 Aug;20(8):844-51. doi: 10.1038/ejhg.2012.20. Epub 2012 Feb 15.

38.

Functional assessment of TSC1 missense variants identified in individuals with tuberous sclerosis complex.

Hoogeveen-Westerveld M, Ekong R, Povey S, Karbassi I, Batish SD, den Dunnen JT, van Eeghen A, Thiele E, Mayer K, Dies K, Wen L, Thompson C, Sparagana SP, Davies P, Aalfs C, van den Ouweland A, Halley D, Nellist M.

Hum Mutat. 2012 Mar;33(3):476-9. doi: 10.1002/humu.22007. Epub 2012 Jan 17.

PMID:
22161988
39.

A comparison of non-destructive sampling strategies to assess the exposure of white-tailed eagle nestlings (Haliaeetus albicilla) to persistent organic pollutants.

Eulaers I, Covaci A, Hofman J, Nygård T, Halley DJ, Pinxten R, Eens M, Jaspers VL.

Sci Total Environ. 2011 Dec 1;410-411:258-65. doi: 10.1016/j.scitotenv.2011.09.070. Epub 2011 Oct 20.

PMID:
22018961
40.

A novel GPR56 mutation causes bilateral frontoparietal polymicrogyria.

Luo R, Yang HM, Jin Z, Halley DJ, Chang BS, MacPherson L, Brueton L, Piao X.

Pediatr Neurol. 2011 Jul;45(1):49-53. doi: 10.1016/j.pediatrneurol.2011.02.004.

41.

N-acetylaspartylglutamate in CNS hypomyelination.

Wamelink MM, Struys E, Holwerda U, Sistermans EA, van Spaendonk RM, Halley D, Willemsen MA, Jakobs C, van der Knaap MS, Wolf NI.

Neuropediatrics. 2011 Feb;42(2):74-7. doi: 10.1055/s-0031-1277176. Epub 2011 May 3.

PMID:
21544765
42.

Multiplex ligation-depending probe amplification is not suitable for detection of low-grade mosaicism.

van Veghel-Plandsoen MM, Wouters CH, Kromosoeto JN, den Ridder-Klünnen MC, Halley DJ, van den Ouweland AM.

Eur J Hum Genet. 2011 Sep;19(9):1009-12. doi: 10.1038/ejhg.2011.60. Epub 2011 Apr 13.

43.

Long-term follow-up of type 1 lissencephaly: survival is related to neuroimaging abnormalities.

de Wit MC, de Rijk-van Andel J, Halley DJ, Poddighe PJ, Arts WF, de Coo IF, Mancini GM.

Dev Med Child Neurol. 2011 May;53(5):417-21. doi: 10.1111/j.1469-8749.2011.03937.x. Epub 2011 Mar 17.

44.

Functional characterization of the TSC2 c.3598C>T (p.R1200W) missense mutation that co-segregates with tuberous sclerosis complex in mildly affected kindreds.

Wentink M, Nellist M, Hoogeveen-Westerveld M, Zonnenberg B, van der Kolk D, van Essen T, Park SM, Woods G, Cohn-Hokke P, Brussel W, Smeets E, Brooks A, Halley D, van den Ouweland A, Maat-Kievit A.

Clin Genet. 2012 May;81(5):453-61. doi: 10.1111/j.1399-0004.2011.01648.x. Epub 2011 Mar 10.

PMID:
21332470
45.

Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex.

Hoogeveen-Westerveld M, Wentink M, van den Heuvel D, Mozaffari M, Ekong R, Povey S, den Dunnen JT, Metcalfe K, Vallee S, Krueger S, Bergoffen J, Shashi V, Elmslie F, Kwiatkowski D, Sampson J, Vidales C, Dzarir J, Garcia-Planells J, Dies K, Maat-Kievit A, van den Ouweland A, Halley D, Nellist M.

Hum Mutat. 2011 Apr;32(4):424-35. doi: 10.1002/humu.21451. Epub 2011 Mar 8.

PMID:
21309039
46.

Mucopolysaccharidosis type IIIA: clinical spectrum and genotype-phenotype correlations.

Valstar MJ, Neijs S, Bruggenwirth HT, Olmer R, Ruijter GJ, Wevers RA, van Diggelen OP, Poorthuis BJ, Halley DJ, Wijburg FA.

Ann Neurol. 2010 Dec;68(6):876-87. doi: 10.1002/ana.22092.

PMID:
21061399
47.

Characterisation of TSC1 promoter deletions in tuberous sclerosis complex patients.

van den Ouweland AM, Elfferich P, Zonnenberg BA, Arts WF, Kleefstra T, Nellist MD, Millan JM, Withagen-Hermans C, Maat-Kievit AJ, Halley DJ.

Eur J Hum Genet. 2011 Feb;19(2):157-63. doi: 10.1038/ejhg.2010.156. Epub 2010 Sep 29.

48.

Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype.

Valstar MJ, Bruggenwirth HT, Olmer R, Wevers RA, Verheijen FW, Poorthuis BJ, Halley DJ, Wijburg FA.

J Inherit Metab Dis. 2010 Dec;33(6):759-67. doi: 10.1007/s10545-010-9199-y. Epub 2010 Sep 18.

49.

Combined cardiological and neurological abnormalities due to filamin A gene mutation.

de Wit MC, de Coo IF, Lequin MH, Halley DJ, Roos-Hesselink JW, Mancini GM.

Clin Res Cardiol. 2011 Jan;100(1):45-50. doi: 10.1007/s00392-010-0206-y. Epub 2010 Aug 22.

50.

Analysis of TSC1 truncations defines regions involved in TSC1 stability, aggregation and interaction.

Hoogeveen-Westerveld M, Exalto C, Maat-Kievit A, van den Ouweland A, Halley D, Nellist M.

Biochim Biophys Acta. 2010 Sep;1802(9):774-81. doi: 10.1016/j.bbadis.2010.06.004. Epub 2010 Jun 12.

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