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Items: 1 to 50 of 152

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.

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.

5.

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.

6.

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
7.

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].

8.

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
9.

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.

10.

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
11.

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
12.

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
13.

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
14.

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
15.

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.

16.

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.

17.

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
18.

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
19.

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
20.

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.

21.

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
22.

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.

23.

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.

24.

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.

25.

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
26.

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.

27.

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.

28.

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.

29.

Mucopolysaccharidosis type IIID: 12 new patients and 15 novel mutations.

Valstar MJ, Bertoli-Avella AM, Wessels MW, Ruijter GJ, de Graaf B, Olmer R, Elfferich P, Neijs S, Kariminejad R, Suheyl Ezgü F, Tokatli A, Czartoryska B, Bosschaart AN, van den Bos-Terpstra F, Puissant H, Bürger F, Omran H, Eckert D, Filocamo M, Simeonov E, Willems PJ, Wevers RA, Niermeijer MF, Halley DJ, Poorthuis BJ, van Diggelen OP.

Hum Mutat. 2010 May;31(5):E1348-60. doi: 10.1002/humu.21234.

PMID:
20232353
30.

Crigler-Najjar syndrome in The Netherlands: identification of four novel UGT1A1 alleles, genotype-phenotype correlation, and functional analysis of 10 missense mutants.

Sneitz N, Bakker CT, de Knegt RJ, Halley DJ, Finel M, Bosma PJ.

Hum Mutat. 2010 Jan;31(1):52-9. doi: 10.1002/humu.21133.

PMID:
19830808
31.

Relationships between organohalogen contaminants and blood plasma clinical-chemical parameters in chicks of three raptor species from Northern Norway.

Sonne C, Bustnes JO, Herzke D, Jaspers VL, Covaci A, Halley DJ, Moum T, Eulaers I, Eens M, Ims RA, Hanssen SA, Einar Erikstad K, Johnsen T, Schnug L, Rigét FF, Jensen AL.

Ecotoxicol Environ Saf. 2010 Jan;73(1):7-17. doi: 10.1016/j.ecoenv.2009.08.017. Epub 2009 Oct 3.

PMID:
19800686
32.

Movement disorder and neuronal migration disorder due to ARFGEF2 mutation.

de Wit MC, de Coo IF, Halley DJ, Lequin MH, Mancini GM.

Neurogenetics. 2009 Oct;10(4):333-6. doi: 10.1007/s10048-009-0192-2. Epub 2009 Apr 22.

33.

Filamin A mutation, a common cause for periventricular heterotopia, aneurysms and cardiac defects.

de Wit MC, Kros JM, Halley DJ, de Coo IF, Verdijk R, Jacobs BC, Mancini GM.

J Neurol Neurosurg Psychiatry. 2009 Apr;80(4):426-8. doi: 10.1136/jnnp.2008.149419.

PMID:
19289478
34.

A high incidence of MSH6 mutations in Amsterdam criteria II-negative families tested in a diagnostic setting.

Ramsoekh D, Wagner A, van Leerdam ME, Dinjens WN, Steyerberg EW, Halley DJ, Kuipers EJ, Dooijes D.

Gut. 2008 Nov;57(11):1539-44. doi: 10.1136/gut.2008.156695. Epub 2008 Jul 14.

PMID:
18625694
35.

Cortical brain malformations: effect of clinical, neuroradiological, and modern genetic classification.

de Wit MC, Lequin MH, de Coo IF, Brusse E, Halley DJ, van de Graaf R, Schot R, Verheijen FW, Mancini GM.

Arch Neurol. 2008 Mar;65(3):358-66. doi: 10.1001/archneur.65.3.358.

PMID:
18332248
36.

p.[G576S; E689K]: pathogenic combination or polymorphism in Pompe disease?

Kroos MA, Mullaart RA, Van Vliet L, Pomponio RJ, Amartino H, Kolodny EH, Pastores GM, Wevers RA, Van der Ploeg AT, Halley DJ, Reuser AJ.

Eur J Hum Genet. 2008 Aug;16(8):875-9. doi: 10.1038/ejhg.2008.34. Epub 2008 Feb 27.

37.

Frequency of Von Hippel-Lindau germline mutations in classic and non-classic Von Hippel-Lindau disease identified by DNA sequencing, Southern blot analysis and multiplex ligation-dependent probe amplification.

Hes FJ, van der Luijt RB, Janssen AL, Zewald RA, de Jong GJ, Lenders JW, Links TP, Luyten GP, Sijmons RH, Eussen HJ, Halley DJ, Lips CJ, Pearson PL, van den Ouweland AM, Majoor-Krakauer DF.

Clin Genet. 2007 Aug;72(2):122-9. Erratum in: Clin Genet. 2008 Apr;73(4):399.

PMID:
17661816
38.

Broad spectrum of Pompe disease in patients with the same c.-32-13T->G haplotype.

Kroos MA, Pomponio RJ, Hagemans ML, Keulemans JL, Phipps M, DeRiso M, Palmer RE, Ausems MG, Van der Beek NA, Van Diggelen OP, Halley DJ, Van der Ploeg AT, Reuser AJ.

Neurology. 2007 Jan 9;68(2):110-5.

PMID:
17210890
39.

Unusually mild tuberous sclerosis phenotype is associated with TSC2 R905Q mutation.

Jansen AC, Sancak O, D'Agostino MD, Badhwar A, Roberts P, Gobbi G, Wilkinson R, Melanson D, Tampieri D, Koenekoop R, Gans M, Maat-Kievit A, Goedbloed M, van den Ouweland AM, Nellist M, Pandolfo M, McQueen M, Sims K, Thiele EA, Dubeau F, Andermann F, Kwiatkowski DJ, Halley DJ, Andermann E.

Ann Neurol. 2006 Nov;60(5):528-39.

PMID:
17120248
40.

[Tuberous sclerosis complex type 1 (TSC1): diagnostic significance of the cutaneous mini-lesions in a familial presentation].

Pascual-Castroviejo I, Pascual-Pascual SI, Velazquez R, van den Ouweland AM, Halley DJ.

Neurologia. 2006 Sep;21(7):386-8. Spanish.

PMID:
16977561
41.

A DGGE system for comprehensive mutation screening of BRCA1 and BRCA2: application in a Dutch cancer clinic setting.

van der Hout AH, van den Ouweland AM, van der Luijt RB, Gille HJ, Bodmer D, Brüggenwirth H, Mulder IM, van der Vlies P, Elfferich P, Huisman MT, ten Berge AM, Kromosoeto J, Jansen RP, van Zon PH, Vriesman T, Arts N, Lange MB, Oosterwijk JC, Meijers-Heijboer H, Ausems MG, Hoogerbrugge N, Verhoef S, Halley DJ, Vos YJ, Hogervorst F, Ligtenberg M, Hofstra RM.

Hum Mutat. 2006 Jul;27(7):654-66.

PMID:
16683254
42.

Large deletion at the TSC1 locus in a family with tuberous sclerosis complex.

Nellist M, Sancak O, Goedbloed MA, van Veghel-Plandsoen M, Maat-Kievit A, Lindhout D, Eussen BH, de Klein A, Halley DJ, van den Ouweland AM.

Genet Test. 2005 Fall;9(3):226-30.

PMID:
16225402
43.

Gene symbol: KCNQ2. Disease: Benign neonatal familial convulsion.

Pinto D, de Haan GJ, Carton D, Bader A, Witte J, Peters E, van Erp MG, Vandereyken W, Boezeman EH, Boon P, Halley DJ, Koeleman BP, Lindhout D.

Hum Genet. 2005 Jul;117(2-3):300. No abstract available.

PMID:
16156031
44.

Phosphorylation and binding partner analysis of the TSC1-TSC2 complex.

Nellist M, Burgers PC, van den Ouweland AM, Halley DJ, Luider TM.

Biochem Biophys Res Commun. 2005 Aug 5;333(3):818-26.

PMID:
15963462
45.

The CLCA gene locus as a modulator of the gastrointestinal basic defect in cystic fibrosis.

Ritzka M, Stanke F, Jansen S, Gruber AD, Pusch L, Woelfl S, Veeze HJ, Halley DJ, Tümmler B.

Hum Genet. 2004 Nov;115(6):483-91. Epub 2004 Oct 13.

PMID:
15490240
46.

Distinct effects of single amino-acid changes to tuberin on the function of the tuberin-hamartin complex.

Nellist M, Sancak O, Goedbloed MA, Rohe C, van Netten D, Mayer K, Tucker-Williams A, van den Ouweland AM, Halley DJ.

Eur J Hum Genet. 2005 Jan;13(1):59-68.

47.

Differential localization of hamartin and tuberin and increased S6 phosphorylation in a tuber.

Jansen FE, Notenboom RG, Nellist M, Goedbloed MA, Halley DJ, de Graan PN, van Nieuwenhuizen O.

Neurology. 2004 Oct 12;63(7):1293-5.

PMID:
15477556
48.

Univerricht-Lundborg disease: underdiagnosed in the Netherlands.

de Haan GJ, Halley DJ, Doelman JC, Geesink HH, Augustijn PB, Jager-Jongkind AD, Majoie M, Bader AJ, Leliefeld-Ten Doeschate LA, Deelen WH, Bertram E, Lehesjoki AE, Lindhout D.

Epilepsia. 2004 Sep;45(9):1061-3.

49.

[From gene to disease; Krabbe disease and galactosylceramidase deficiency].

Kleijer WJ, van Diggelen OP, Halley DJ, van der Ploeg AT, Mancini GM.

Ned Tijdschr Geneeskd. 2004 Apr 24;148(17):826-8. Dutch.

PMID:
15141649
50.

Evidence for linkage between juvenile myoclonic epilepsy-related idiopathic generalized epilepsy and 6p11-12 in Dutch families.

Pinto D, de Haan GJ, Janssen GA, Boezeman EH, van Erp MG, Westland B, Witte J, Bader A, Halley DJ, Kasteleijn-Nolst Trenité DG, Lindhout D, Koeleman BP.

Epilepsia. 2004 Mar;45(3):211-7.

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