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A multidisciplinary approach and consensus statement to establish standards of care for Angelman syndrome.
Duis J, Nespeca M, Summers J, Bird L, Bindels-de Heus KGCB, Valstar MJ, de Wit MY, Navis C, Ten Hooven-Radstaake M, van Iperen-Kolk BM, Ernst S, Dendrinos M, Katz T, Diaz-Medina G, Katyayan A, Nangia S, Thibert R, Glaze D, Keary C, Pelc K, Simon N, Sadhwani A, Heussler H, Wheeler A, Woeber C, DeRamus M, Thomas A, Kertcher E, DeValk L, Kalemeris K, Arps K, Baym C, Harris N, Gorham JP, Bohnsack BL, Chambers RC, Harris S, Chambers HG, Okoniewski K, Jalazo ER, Berent A, Bacino CA, Williams C, Anderson A. Duis J, et al. Among authors: valstar mj. Mol Genet Genomic Med. 2022 Mar;10(3):e1843. doi: 10.1002/mgg3.1843. Epub 2022 Feb 11. Mol Genet Genomic Med. 2022. PMID: 35150089 Free PMC article. Review.
A novel UBE3A sequence variant identified in eight related individuals with neurodevelopmental delay, results in a phenotype which does not match the clinical criteria of Angelman syndrome.
Geerts-Haages A, Bossuyt SNV, den Besten I, Bruggenwirth H, van der Burgt I, Yntema HG, Punt AM, Brooks A, Elgersma Y, Distel B, Valstar M. Geerts-Haages A, et al. Mol Genet Genomic Med. 2020 Nov;8(11):e1481. doi: 10.1002/mgg3.1481. Epub 2020 Sep 5. Mol Genet Genomic Med. 2020. PMID: 32889787 Free PMC article.
Clinical aspects of a large group of adults with Angelman syndrome.
den Besten I, de Jong RF, Geerts-Haages A, Bruggenwirth HT, Koopmans M; ENCORE Expertise Center for AS 18+; Brooks A, Elgersma Y, Festen DAM, Valstar MJ. den Besten I, et al. Among authors: valstar mj. Am J Med Genet A. 2021 Jan;185(1):168-181. doi: 10.1002/ajmg.a.61940. Epub 2020 Oct 27. Am J Med Genet A. 2021. PMID: 33108066 Free PMC article.
Shedding light on light exposure in elderly with intellectual disabilities.
Böhmer MN, Valstar MJ, Aarts MPJ, Bindels PJE, Oppewal A, van Someren EJW, Festen DAM. Böhmer MN, et al. Among authors: valstar mj. J Intellect Disabil Res. 2021 Apr;65(4):361-372. doi: 10.1111/jir.12822. Epub 2021 Feb 16. J Intellect Disabil Res. 2021. PMID: 33594722 Free PMC article.
Residual N-acetyl-α-glucosaminidase activity in fibroblasts correlates with disease severity in patients with mucopolysaccharidosis type IIIB.
Meijer OLM, Welling L, Valstar MJ, Hoefsloot LH, Brüggenwirth HT, van der Ploeg AT, Ruijter GJG, Wagemans T, Wijburg FA, van Vlies N. Meijer OLM, et al. Among authors: valstar mj. J Inherit Metab Dis. 2016 May;39(3):437-445. doi: 10.1007/s10545-016-9916-2. Epub 2016 Feb 23. J Inherit Metab Dis. 2016. PMID: 26907177 Free PMC article.
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. Valstar MJ, et al. Hum Mutat. 2010 May;31(5):E1348-60. doi: 10.1002/humu.21234. Hum Mutat. 2010. PMID: 20232353
Sanfilippo syndrome: a mini-review.
Valstar MJ, Ruijter GJ, van Diggelen OP, Poorthuis BJ, Wijburg FA. Valstar MJ, et al. J Inherit Metab Dis. 2008 Apr;31(2):240-52. doi: 10.1007/s10545-008-0838-5. Epub 2008 Apr 4. J Inherit Metab Dis. 2008. PMID: 18392742 Review.
15 results