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Health Problems in Adults with Prader-Willi Syndrome of Different Genetic Subtypes: Cohort Study, Meta-Analysis and Review of the Literature.
Rosenberg AGW, Wellink CM, Tellez Garcia JM, Pellikaan K, Van Abswoude DH, Davidse K, Van Zutven LJCM, Brüggenwirth HT, Resnick JL, Van der Lely AJ, De Graaff LCG. Rosenberg AGW, et al. Among authors: van zutven ljcm. J Clin Med. 2022 Jul 12;11(14):4033. doi: 10.3390/jcm11144033. J Clin Med. 2022. PMID: 35887798 Free PMC article.
The Diagnostic Journey of a Patient with Prader-Willi-Like Syndrome and a Unique Homozygous SNURF-SNRPN Variant; Bio-Molecular Analysis and Review of the Literature.
Pellikaan K, van Woerden GM, Kleinendorst L, Rosenberg AGW, Horsthemke B, Grosser C, van Zutven LJCM, van Rossum EFC, van der Lely AJ, Resnick JL, Brüggenwirth HT, van Haelst MM, de Graaff LCG. Pellikaan K, et al. Among authors: van zutven ljcm. Genes (Basel). 2021 Jun 7;12(6):875. doi: 10.3390/genes12060875. Genes (Basel). 2021. PMID: 34200226 Free PMC article. Review.
Phenotypic variability of atypical 22q11.2 deletions not including TBX1.
Verhagen JM, Diderich KE, Oudesluijs G, Mancini GM, Eggink AJ, Verkleij-Hagoort AC, Groenenberg IA, Willems PJ, du Plessis FA, de Man SA, Srebniak MI, van Opstal D, Hulsman LO, van Zutven LJ, Wessels MW. Verhagen JM, et al. Am J Med Genet A. 2012 Oct;158A(10):2412-20. doi: 10.1002/ajmg.a.35517. Epub 2012 Aug 14. Am J Med Genet A. 2012. PMID: 22893440
Social and medical need for whole genome high resolution NIPT.
Srebniak MI, Knapen MFCM, Govaerts LCP, Polak M, Joosten M, Diderich KEM, van Zutven LJCM, Prinsen KAKE, Riedijk S, Go ATJI, Galjaard RH, Hoefsloot LH, Van Opstal D. Srebniak MI, et al. Among authors: van zutven ljcm. Mol Genet Genomic Med. 2020 Jan;8(1):e1062. doi: 10.1002/mgg3.1062. Epub 2019 Dec 1. Mol Genet Genomic Med. 2020. PMID: 31790156 Free PMC article.
24 results