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Expanding the spectrum of FOXC1 and PITX2 mutations and copy number changes in patients with anterior segment malformations.
D'haene B, Meire F, Claerhout I, Kroes HY, Plomp A, Arens YH, de Ravel T, Casteels I, De Jaegere S, Hooghe S, Wuyts W, van den Ende J, Roulez F, Veenstra-Knol HE, Oldenburg RA, Giltay J, Verheij JB, de Faber JT, Menten B, De Paepe A, Kestelyn P, Leroy BP, De Baere E. D'haene B, et al. Among authors: arens yh. Invest Ophthalmol Vis Sci. 2011 Jan 21;52(1):324-33. doi: 10.1167/iovs.10-5309. Invest Ophthalmol Vis Sci. 2011. PMID: 20881294
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.
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
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.
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.
24 results