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Page 1
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: hoefsloot lh. 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.
Unexpected finding of uniparental disomy mosaicism in term placentas: Is it a common feature in trisomic placentas?
Van Opstal D, Diderich KEM, Joosten M, Govaerts LCP, Polak J, Boter M, Saris JJ, Cheung WY, van Veen S, van de Helm R, Go ATJI, Knapen MFCM, Papatsonis DNM, Dijkman A, de Vries F, Galjaard RH, Hoefsloot LH, Srebniak MI. Van Opstal D, et al. Among authors: hoefsloot lh. Prenat Diagn. 2018 Nov;38(12):911-919. doi: 10.1002/pd.5354. Epub 2018 Sep 27. Prenat Diagn. 2018. PMID: 30187503 Free PMC article.
Placental studies elucidate discrepancies between NIPT showing a structural chromosome aberration and a differently abnormal fetal karyotype.
Van Opstal D, van Veen S, Joosten M, Diderich KEM, Govaerts LCP, Polak J, van Koetsveld N, Boter M, Go ATJI, Papatsonis DNM, Prinsen K, Hoefsloot LH, Srebniak MI. Van Opstal D, et al. Among authors: hoefsloot lh. Prenat Diagn. 2019 Oct;39(11):1016-1025. doi: 10.1002/pd.5531. Epub 2019 Aug 13. Prenat Diagn. 2019. PMID: 31321790 Free PMC article.
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: hoefsloot lh. 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.
Noninvasive prenatal testing as compared to chorionic villus sampling is more sensitive for the detection of confined placental mosaicism involving the cytotrophoblast.
Van Opstal D, Eggenhuizen GM, Joosten M, Diderich K, Govaerts L, Galjaard RJ, Go A, Knapen M, Boter M, Cheung WY, van Koetsveld N, van Veen S, de Valk WG, Jehee F, de Vries F, Hollink I, Hoefsloot L, Srebniak M. Van Opstal D, et al. Prenat Diagn. 2020 Sep;40(10):1338-1342. doi: 10.1002/pd.5766. Epub 2020 Jun 29. Prenat Diagn. 2020. PMID: 32533714 Free PMC article. No abstract available.
The potential diagnostic yield of whole exome sequencing in pregnancies complicated by fetal ultrasound anomalies.
Diderich KEM, Romijn K, Joosten M, Govaerts LCP, Polak M, Bruggenwirth HT, Wilke M, van Slegtenhorst MA, van Bever Y, Brooks AS, Mancini GMS, van de Laar IMBH, Kromosoeto JNR, Knapen MFCM, Go ATJI, Van Opstal D, Hoefsloot LH, Galjaard RH, Srebniak MI. Diderich KEM, et al. Among authors: hoefsloot lh. Acta Obstet Gynecol Scand. 2021 Jun;100(6):1106-1115. doi: 10.1111/aogs.14053. Epub 2020 Dec 28. Acta Obstet Gynecol Scand. 2021. PMID: 33249554 Free PMC article.
High-yield identification of pathogenic NF1 variants by skin fibroblast transcriptome screening after apparently normal diagnostic DNA testing.
Douben HCW, Nellist M, van Unen L, Elfferich P, Kasteleijn E, Hoogeveen-Westerveld M, Louwen J, van Veghel-Plandsoen M, de Valk W, Saris JJ, Hendriks F, Korpershoek E, Hoefsloot LH, van Vliet M, van Bever Y, van de Laar I, Aten E, Lachmeijer AMA, Taal W, van den Bersselaar L, Schuurmans J, Oostenbrink R, van Minkelen R, van Ierland Y, van Ham TJ. Douben HCW, et al. Among authors: hoefsloot lh. Hum Mutat. 2022 Dec;43(12):2130-2140. doi: 10.1002/humu.24487. Epub 2022 Nov 8. Hum Mutat. 2022. PMID: 36251260 Free PMC article.
Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis.
de Munnik SA, Bicknell LS, Aftimos S, Al-Aama JY, van Bever Y, Bober MB, Clayton-Smith J, Edrees AY, Feingold M, Fryer A, van Hagen JM, Hennekam RC, Jansweijer MC, Johnson D, Kant SG, Opitz JM, Ramadevi AR, Reardon W, Ross A, Sarda P, Schrander-Stumpel CT, Schoots J, Temple IK, Terhal PA, Toutain A, Wise CA, Wright M, Skidmore DL, Samuels ME, Hoefsloot LH, Knoers NV, Brunner HG, Jackson AP, Bongers EM. de Munnik SA, et al. Among authors: hoefsloot lh. Eur J Hum Genet. 2012 Jun;20(6):598-606. doi: 10.1038/ejhg.2011.269. Epub 2012 Feb 15. Eur J Hum Genet. 2012. PMID: 22333897 Free PMC article.
174 results