Arens YH - Search Results

1

Genotype-phenotype studies in three families with mutations in the polyglutamine-binding protein 1 gene (PQBP1).

Kleefstra T, Franken CE, Arens YH, Ramakers GJ, Yntema HG, Sistermans EA, Hulsmans CF, Nillesen WN, van Bokhoven H, de Vries BB, Hamel BC. Kleefstra T, et al. Among authors: arens yh. Clin Genet. 2004 Oct;66(4):318-26. doi: 10.1111/j.1399-0004.2004.00308.x. Clin Genet. 2004. PMID: 15355434

2

The impact of unsolicited findings in clinical exome sequencing, a qualitative interview study.

Schoot VV, Viellevoije SJ, Tammer F, Brunner HG, Arens Y, Yntema HG, Oerlemans AJM. Schoot VV, et al. Eur J Hum Genet. 2021 Jun;29(6):930-939. doi: 10.1038/s41431-021-00834-9. Epub 2021 Feb 26. Eur J Hum Genet. 2021. PMID: 33637888 Free PMC article.

3

Lessons learned from unsolicited findings in clinical exome sequencing of 16,482 individuals.

van der Schoot V, Haer-Wigman L, Feenstra I, Tammer F, Oerlemans AJM, van Koolwijk MPA, van Agt F, Arens YHJM, Brunner HG, Vissers LELM, Yntema HG. van der Schoot V, et al. Among authors: arens yhjm. Eur J Hum Genet. 2022 Feb;30(2):170-177. doi: 10.1038/s41431-021-00964-0. Epub 2021 Oct 25. Eur J Hum Genet. 2022. PMID: 34697415 Free PMC article.

4

Subtelomeric chromosome aberrations: still a lot to learn.

Moog U, Arens YH, van Lent-Albrechts JC, Huijts PE, Smeets EE, Schrander-Stumpel CT, Engelen JJ. Moog U, et al. Among authors: arens yh. Clin Genet. 2005 Nov;68(5):397-407. doi: 10.1111/j.1399-0004.2005.00506.x. Clin Genet. 2005. PMID: 16207207

5

The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes.

Paulussen AD, Schrander-Stumpel CT, Tserpelis DC, Spee MK, Stegmann AP, Mancini GM, Brooks AS, Collée M, Maat-Kievit A, Simon ME, van Bever Y, Stolte-Dijkstra I, Kerstjens-Frederikse WS, Herkert JC, van Essen AJ, Lichtenbelt KD, van Haeringen A, Kwee ML, Lachmeijer AM, Tan-Sindhunata GM, van Maarle MC, Arens YH, Smeets EE, de Die-Smulders CE, Engelen JJ, Smeets HJ, Herbergs J. Paulussen AD, et al. Among authors: arens yh. Eur J Hum Genet. 2010 Sep;18(9):999-1005. doi: 10.1038/ejhg.2010.70. Epub 2010 Jun 9. Eur J Hum Genet. 2010. PMID: 20531442 Free PMC article.

6

Familial insertion (3;5)(q25.3;q22.1q31.3) with deletion or duplication of chromosome region 5q22.1-5q31.3 in ten unbalanced carriers.

Arens YH, Engelen JJ, Govaerts LC, van Ravenswaay CM, Loneus WH, van Lent-Albrechts JC, van der Blij-Philipsen M, Hamers AJ, Schrander-Stumpel CT. Arens YH, et al. Am J Med Genet A. 2004 Oct 1;130A(2):128-33. doi: 10.1002/ajmg.a.20568. Am J Med Genet A. 2004. PMID: 15372532

7

Intrachromosomal insertion translocation resulting in duplication of chromosome band Yq11.2 in two fertile brothers.

Engelen JJ, Arens YH, Gondrie ET, Alofs MG, Loneus WH, Hamers AJ. Engelen JJ, et al. Among authors: arens yh. Am J Med Genet A. 2003 Apr 30;118A(3):287-9. doi: 10.1002/ajmg.a.10203. Am J Med Genet A. 2003. PMID: 12673661

8

Trisomy 7p: report of 2 patients and literature review.

Arens YH, Toutain A, Engelen JJ, Offermans JP, Hamers AJ, Schrander JJ, Pulles-Heintzberger CF, Schrander-Stumpel CT. Arens YH, et al. Genet Couns. 2000;11(4):347-54. Genet Couns. 2000. PMID: 11140412 Review.

9

Perinatal follow-up of children born after preimplantation genetic diagnosis between 1995 and 2014.

Heijligers M, van Montfoort A, Meijer-Hoogeveen M, Broekmans F, Bouman K, Homminga I, Dreesen J, Paulussen A, Engelen J, Coonen E, van der Schoot V, van Deursen-Luijten M, Muntjewerff N, Peeters A, van Golde R, van der Hoeven M, Arens Y, de Die-Smulders C. Heijligers M, et al. J Assist Reprod Genet. 2018 Nov;35(11):1995-2002. doi: 10.1007/s10815-018-1286-2. Epub 2018 Sep 5. J Assist Reprod Genet. 2018. PMID: 30187425 Free PMC article.

10

Hypertrophic cardiomyopathy family with double-heterozygous mutations; does disease severity suggest doubleheterozygosity?

van Rijsingen IA, Hermans-van Ast JF, Arens YH, Schalla SM, de Die-Smulders CE, van den Wijngaard A, Pinto YM. van Rijsingen IA, et al. Among authors: arens yh. Neth Heart J. 2009 Dec;17(12):458-63. doi: 10.1007/BF03086304. Neth Heart J. 2009. PMID: 20087448 Free PMC article.

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