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Page 1
X-chromosome duplications in males with mental retardation: pathogenic or benign variants?
Gijsbers AC, den Hollander NS, Helderman-van de Enden AT, Schuurs-Hoeijmakers JH, Vijfhuizen L, Bijlsma EK, van Haeringen A, Hansson KB, Bakker E, Breuning MH, Ruivenkamp CA. Gijsbers AC, et al. Among authors: vijfhuizen l. Clin Genet. 2011 Jan;79(1):71-8. doi: 10.1111/j.1399-0004.2010.01438.x. Clin Genet. 2011. PMID: 20486941
Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients.
Santen GW, Aten E, Vulto-van Silfhout AT, Pottinger C, van Bon BW, van Minderhout IJ, Snowdowne R, van der Lans CA, Boogaard M, Linssen MM, Vijfhuizen L, van der Wielen MJ, Vollebregt MJ; Coffin-Siris consortium; Breuning MH, Kriek M, van Haeringen A, den Dunnen JT, Hoischen A, Clayton-Smith J, de Vries BB, Hennekam RC, van Belzen MJ. Santen GW, et al. Among authors: vijfhuizen l. Hum Mutat. 2013 Nov;34(11):1519-28. doi: 10.1002/humu.22394. Epub 2013 Aug 30. Hum Mutat. 2013. PMID: 23929686
Risk of erroneous results in carrier testing for haemophilia A without prior DNA analysis in male index patients.
Fransen van de Putte DE, Frankhuizen WS, Vijfhuizen L, Groenewegen L, Tamminga RYJ, Bouman K, van Essen AJ, Gijsbers ACJ, Ruivenkamp CAL, Boon EMJ. Fransen van de Putte DE, et al. Among authors: vijfhuizen l. Haemophilia. 2015 May;21(3):e237-e239. doi: 10.1111/hae.12648. Epub 2015 Feb 5. Haemophilia. 2015. PMID: 25655912 No abstract available.
A new gene associated with a β-thalassemia phenotype: the observation of variants in SUPT5H.
Achour A, Koopmann T, Castel R, Santen GWE, den Hollander N, Knijnenburg J, Ruivenkamp CAL, Arkesteijn SGJ, Ter Huurne J, Bisoen S, Verschuren M, Vijfhuizen L, Schaap R, Grimbergen A, Slomp J, Traeger-Synodinos J, Vrettou C, Pissard S, Galacteros F, Baas F, Harteveld CL. Achour A, et al. Among authors: vijfhuizen l. Blood. 2020 Oct 8;136(15):1789-1793. doi: 10.1182/blood.2020005934. Blood. 2020. PMID: 32589702 Free article. No abstract available.
The hemoglobinopathies, molecular disease mechanisms and diagnostics.
Harteveld CL, Achour A, Arkesteijn SJG, Ter Huurne J, Verschuren M, Bhagwandien-Bisoen S, Schaap R, Vijfhuizen L, El Idrissi H, Koopmann TT. Harteveld CL, et al. Among authors: vijfhuizen l. Int J Lab Hematol. 2022 Sep;44 Suppl 1(Suppl 1):28-36. doi: 10.1111/ijlh.13885. Int J Lab Hematol. 2022. PMID: 36074711 Free PMC article. Review.
Validation of genetic modifiers for Duchenne muscular dystrophy: a multicentre study assessing SPP1 and LTBP4 variants.
van den Bergen JC, Hiller M, Böhringer S, Vijfhuizen L, Ginjaar HB, Chaouch A, Bushby K, Straub V, Scoto M, Cirak S, Humbertclaude V, Claustres M, Scotton C, Passarelli C, Lochmüller H, Muntoni F, Tuffery-Giraud S, Ferlini A, Aartsma-Rus AM, Verschuuren JJ, 't Hoen PA, Spitali P. van den Bergen JC, et al. Among authors: vijfhuizen l. J Neurol Neurosurg Psychiatry. 2015 Oct;86(10):1060-5. doi: 10.1136/jnnp-2014-308409. Epub 2014 Dec 4. J Neurol Neurosurg Psychiatry. 2015. PMID: 25476005 Free PMC article.
Loss-of-Function Variants in SUPT5H as Modifying Factors in Beta-Thalassemia.
Harteveld CL, Achour A, Fairuz Mohd Hasan NF, Legebeke J, Arkesteijn SJG, Huurne JT, Verschuren M, Bhagwandien-Bisoen S, Schaap R, Vijfhuizen L, Idrissi HE, Babbs C, Higgs DR, Koopmann TT, Vrettou C, Traeger-Synodinos J, Baas F; International Hemoglobinopathy Research Network (INHERENT). Harteveld CL, et al. Among authors: vijfhuizen l. Int J Mol Sci. 2024 Aug 16;25(16):8928. doi: 10.3390/ijms25168928. Int J Mol Sci. 2024. PMID: 39201615 Free PMC article. Review.
Alpha Thalassemia Screening in Multiethnic Population in Northern Europe Using Hb Bart's Immunochromatographic Test.
Nik Mohd Hasan NFF, Arkesteijn SJG, Ter Huurne J, Verschuren M, Bhagwandien-Bisoen S, Schaap R, Vijfhuizen L, El Idrissi H, Koopmann TT, Harteveld CL. Nik Mohd Hasan NFF, et al. Among authors: vijfhuizen l. Int J Lab Hematol. 2024 Oct 9. doi: 10.1111/ijlh.14381. Online ahead of print. Int J Lab Hematol. 2024. PMID: 39380484 No abstract available.
34 results