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Multicentric osteolytic syndromes represent a phenotypic spectrum defined by defective collagen remodeling.
Am J Med Genet A. 2019 Aug;179(8):1652-1664. doi: 10.1002/ajmg.a.61264. Epub 2019 Jun 19.
Am J Med Genet A. 2019.
PMID: 31218820
Review.
Functional analysis of a hypomorphic allele shows that MMP14 catalytic activity is the prime determinant of the Winchester syndrome phenotype.
de Vos IJHM, Tao EY, Ong SLM, Goggi JL, Scerri T, Wilson GR, Low CGM, Wong ASW, Grussu D, Stegmann APA, van Geel M, Janssen R, Amor DJ, Bahlo M, Dunn NR, Carney TJ, Lockhart PJ, Coull BJ, van Steensel MAM.
de Vos IJHM, et al.
Hum Mol Genet. 2018 Aug 15;27(16):2775-2788. doi: 10.1093/hmg/ddy168.
Hum Mol Genet. 2018.
PMID: 29741626
Free PMC article.
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The novel zebrafish model pretzel demonstrates a central role for SH3PXD2B in defective collagen remodelling and fibrosis in Frank-Ter Haar syndrome.
de Vos IJHM, Wong ASW, Taslim J, Ong SLM, Syder NC, Goggi JL, Carney TJ, van Steensel MAM.
de Vos IJHM, et al.
Biol Open. 2020 Dec 29;9(12):bio054270. doi: 10.1242/bio.054270.
Biol Open. 2020.
PMID: 33234702
Free PMC article.
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Review of familial cerebral cavernous malformations and report of seven additional families.
de Vos IJ, Vreeburg M, Koek GH, van Steensel MA.
de Vos IJ, et al.
Am J Med Genet A. 2017 Feb;173(2):338-351. doi: 10.1002/ajmg.a.38028. Epub 2016 Oct 28.
Am J Med Genet A. 2017.
PMID: 27792856
Review.
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Neuroendocrinology and neurobiology of sebaceous glands.
Clayton RW, Langan EA, Ansell DM, de Vos IJHM, Göbel K, Schneider MR, Picardo M, Lim X, van Steensel MAM, Paus R.
Clayton RW, et al. Among authors: de vos ijhm.
Biol Rev Camb Philos Soc. 2020 Jun;95(3):592-624. doi: 10.1111/brv.12579. Epub 2020 Jan 22.
Biol Rev Camb Philos Soc. 2020.
PMID: 31970855
Review.
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Microfibril-associated glycoprotein 4 (Mfap4) regulates haematopoiesis in zebrafish.
Ong SLM, de Vos IJHM, Meroshini M, Poobalan Y, Dunn NR.
Ong SLM, et al. Among authors: de vos ijhm.
Sci Rep. 2020 Jul 16;10(1):11801. doi: 10.1038/s41598-020-68792-8.
Sci Rep. 2020.
PMID: 32678226
Free PMC article.
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The 6p25 deletion syndrome: An update on a rare neurocristopathy.
de Vos IJ, Stegmann AP, Webers CA, Stumpel CT.
de Vos IJ, et al.
Ophthalmic Genet. 2017 Mar-Apr;38(2):101-107. doi: 10.3109/13816810.2016.1164191. Epub 2016 Apr 12.
Ophthalmic Genet. 2017.
PMID: 27070436
Review.
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