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Facioscapulohumeral muscular dystrophy-Reproductive counseling, pregnancy, and delivery in a complex multigenetic disease.
Vincenten SCC, Van Der Stoep N, Paulussen ADC, Mul K, Badrising UA, Kriek M, Van Der Heijden OWH, Van Engelen BGM, Voermans NC, De Die-Smulders CEM, Lassche S. Vincenten SCC, et al. Among authors: paulussen adc. Clin Genet. 2022 Feb;101(2):149-160. doi: 10.1111/cge.14031. Epub 2021 Aug 1. Clin Genet. 2022. PMID: 34297364 Free PMC article. Review.
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. 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.
Noninvasive detection of fetal trisomy 21: systematic review and report of quality and outcomes of diagnostic accuracy studies performed between 1997 and 2012.
Mersy E, Smits LJ, van Winden LA, de Die-Smulders CE; South-East Netherlands NIPT Consortium; Paulussen AD, Macville MV, Coumans AB, Frints SG. Mersy E, et al. Hum Reprod Update. 2013 Jul-Aug;19(4):318-29. doi: 10.1093/humupd/dmt001. Epub 2013 Feb 8. Hum Reprod Update. 2013. PMID: 23396607 Review.
PGD for hereditary breast and ovarian cancer: the route to universal tests for BRCA1 and BRCA2 mutation carriers.
Drüsedau M, Dreesen JC, Derks-Smeets I, Coonen E, van Golde R, van Echten-Arends J, Kastrop PM, Blok MJ, Gómez-García E, Geraedts JP, Smeets HJ, de Die-Smulders CE, Paulussen AD. Drüsedau M, et al. Eur J Hum Genet. 2013 Dec;21(12):1361-8. doi: 10.1038/ejhg.2013.50. Epub 2013 Mar 27. Eur J Hum Genet. 2013. PMID: 23531862 Free PMC article.
Hereditary breast and ovarian cancer and reproduction: an observational study on the suitability of preimplantation genetic diagnosis for both asymptomatic carriers and breast cancer survivors.
Derks-Smeets IA, de Die-Smulders CE, Mackens S, van Golde R, Paulussen AD, Dreesen J, Tournaye H, Verdyck P, Tjan-Heijnen VC, Meijer-Hoogeveen M, De Greve J, Geraedts J, De Rycke M, Bonduelle M, Verpoest WM. Derks-Smeets IA, et al. Breast Cancer Res Treat. 2014 Jun;145(3):673-81. doi: 10.1007/s10549-014-2951-5. Epub 2014 Apr 19. Breast Cancer Res Treat. 2014. PMID: 24748567
Refining the phenotypical and mutational spectrum of Taybi-Linder syndrome.
Putoux A, Alqahtani A, Pinson L, Paulussen AD, Michel J, Besson A, Mazoyer S, Borg I, Nampoothiri S, Vasiljevic A, Uwineza A, Boggio D, Champion F, de Die-Smulders CE, Gardeitchik T, van Putten WK, Perez MJ, Musizzano Y, Razavi F, Drunat S, Verloes A, Hennekam R, Guibaud L, Alix E, Sanlaville D, Lesca G, Edery P. Putoux A, et al. Clin Genet. 2016 Dec;90(6):550-555. doi: 10.1111/cge.12781. Epub 2016 Jun 2. Clin Genet. 2016. PMID: 27040866 Free article.
A comprehensive strategy for exome-based preconception carrier screening.
Sallevelt SCEH, de Koning B, Szklarczyk R, Paulussen ADC, de Die-Smulders CEM, Smeets HJM. Sallevelt SCEH, et al. Among authors: paulussen adc. Genet Med. 2017 May;19(5):583-592. doi: 10.1038/gim.2016.153. Epub 2016 Oct 27. Genet Med. 2017. PMID: 28492530 Free article.
BRCA1 mutation carriers have a lower number of mature oocytes after ovarian stimulation for IVF/PGD.
Derks-Smeets IAP, van Tilborg TC, van Montfoort A, Smits L, Torrance HL, Meijer-Hoogeveen M, Broekmans F, Dreesen JCFM, Paulussen ADC, Tjan-Heijnen VCG, Homminga I, van den Berg MMJ, Ausems MGEM, de Rycke M, de Die-Smulders CEM, Verpoest W, van Golde R. Derks-Smeets IAP, et al. Among authors: paulussen adc. J Assist Reprod Genet. 2017 Nov;34(11):1475-1482. doi: 10.1007/s10815-017-1014-3. Epub 2017 Aug 22. J Assist Reprod Genet. 2017. PMID: 28831696 Free PMC article.
75 results