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Diagnostic exome-based preconception carrier testing in consanguineous couples: results from the first 100 couples in clinical practice
Author / Creator:Sallevelt, Suzanne C.E.H. ; Stegmann, Alexander P.A. ; de Koning, Bart ; Velter, Crool ; Steyls, Anja ; van Esch, Melanie ; Lakeman, Phillis ; Yntema, Helger ; Esteki, Masoud Zamani ; de Die-Smulders, Christine E.M. ; Gilissen, Christian ; van den Wijngaard, Arthur ; Brunner, Han G. ; Paulussen, Aimée D.C.
Publisher:New York: Elsevier Inc
Journal title:Genetics in medicine, 2021-06, Vol.23 (6), p.1125-1136
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Advances in prenatal screening: the ethical dimension
Author / Creator:de Jong, Antina ; Dondorp, Wybo J. ; Frints, Suzanna G. M. ; de Die-Smulders, Christine E. M. ; de Wert, Guido M. W. R.
Publisher:London: Nature Publishing Group UK
Journal title:Nature reviews. Genetics, 2011-09, Vol.12 (9), p.657-663
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Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study
Author / Creator:Depienne, Christel, Dr ; Bugiani, Marianna, MD ; Dupuits, Céline, MSc ; Galanaud, Damien, Prof ; Touitou, Valérie ; Postma, Nienke ; van Berkel, Carola ; Polder, Emiel ; Tollard, Eleonore, MD ; Darios, Frédéric, PhD ; Brice, Alexis, Prof ; de Die-Smulders, Christine E, Prof ; Vles, Johannes S, Prof ; Vanderver, Adeline, MD ; Uziel, Graziella, MD ; Yalcinkaya, Cengiz, Prof ; Frints, Suzanna G, MD ; Kalscheuer, Vera M, PhD ; Klooster, Jan, MSc ; Kamermans, Maarten, Prof ; Abbink, Truus EM, PhD ; Wolf, Nicole I, MD ; Sedel, Frédéric, MD ; van der Knaap, Marjo S, Prof
Publisher:England: Elsevier Ltd
Journal title:Lancet neurology, 2013-07, Vol.12 (7), p.659-668
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Structural and functional cardiac changes in myotonic dystrophy type 1: a cardiovascular magnetic resonance study
Author / Creator:Hermans, Mieke CE ; Faber, Catharina G ; Bekkers, Sebastiaan CAM ; de Die-Smulders, Christine EM ; Gerrits, Monique M ; Merkies, Ingemar SJ ; Snoep, Gabriel ; Pinto, Yigal M ; Schalla, Simon
Publisher:England: BioMed Central Ltd
Journal title:Journal of cardiovascular magnetic resonance, 2012-07, Vol.14 (1), p.54-48, Article 54
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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
Author / Creator:Derks-Smeets, Inge A. P. ; de Die-Smulders, Christine E. M. ; Mackens, Shari ; van Golde, Ron ; Paulussen, Aimee D. ; Dreesen, Jos ; Tournaye, Herman ; Verdyck, Pieter ; Tjan-Heijnen, Vivianne C. G. ; Meijer-Hoogeveen, Madelon ; De Greve, Jacques ; Geraedts, Joep ; De Rycke, Martine ; Bonduelle, Maryse ; Verpoest, Willem M.
Publisher:Boston: Springer US
Journal title:Breast cancer research and treatment, 2014-06, Vol.145 (3), p.673-681
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Microarrays as a diagnostic tool in prenatal screening strategies: ethical reflection
Author / Creator:de Jong, Antina ; Dondorp, Wybo J. ; Macville, Merryn V. E. ; de Die-Smulders, Christine E. M. ; van Lith, Jan M. M. ; de Wert, Guido M. W. R.
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Human genetics, 2014-02, Vol.133 (2), p.163-172
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PLS3 Mutations in X-Linked Osteoporosis with Fractures
Author / Creator:van Dijk, Fleur S ; Zillikens, M. Carola ; Micha, Dimitra ; Riessland, Markus ; Marcelis, Carlo L.M ; de Die-Smulders, Christine E ; Milbradt, Janine ; Franken, Anton A ; Harsevoort, Arjan J ; Lichtenbelt, Klaske D ; Pruijs, Hans E ; Rubio-Gozalbo, M. Estela ; Zwertbroek, Rolf ; Moutaouakil, Youssef ; Egthuijsen, Jaqueline ; Hammerschmidt, Matthias ; Bijman, Renate ; Semeins, Cor M ; Bakker, Astrid D ; Everts, Vincent ; Klein-Nulend, Jenneke ; Campos-Obando, Natalia ; Hofman, Albert ; te Meerman, Gerard J ; Verkerk, Annemieke J.M.H ; Uitterlinden, André G ; Maugeri, Alessandra ; Sistermans, Erik A ; Waisfisz, Quinten ; Meijers-Heijboer, Hanne ; Wirth, Brunhilde ; Simon, Marleen E.H ; Pals, Gerard
Publisher:Waltham, MA: Massachusetts Medical Society
Journal title:The New England journal of medicine, 2013-10, Vol.369 (16), p.1529-1536
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Analysis of severely affected patients with dihydropyrimidine dehydrogenase deficiency reveals large intragenic rearrangements of DPYD and a de novo interstitial deletion del(1)(p13.3p21.3)
Author / Creator:van Kuilenburg, André B. P ; Meijer, Judith ; Mul, Adri N. P. M ; Hennekam, Raoul C. M ; Hoovers, Jan M. N ; de Die-Smulders, Christine E. M ; Weber, Peter ; Mori, Andrea Capone ; Bierau, Jörgen ; Fowler, Brian ; Macke, Klaus ; Sass, Jörn Oliver ; Meinsma, Rutger ; Hennermann, Julia B ; Miny, Peter ; Zoetekouw, Lida ; Vijzelaar, Raymon ; Nicolai, Joost ; Ylstra, Bauke ; Rubio-Gozalbo, M. Estela
Publisher:Berlin/Heidelberg: Berlin/Heidelberg : Springer-Verlag
Journal title:Human genetics, 2009-06, Vol.125 (5-6), p.581-590
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Preimplantation genetic testing for Neurofibromatosis type 1: more than 20 years of clinical experience
Author / Creator:Vernimmen, Vivian ; Paulussen, Aimée D. C. ; Dreesen, Jos C. F. M. ; van Golde, Ron J. ; Zamani Esteki, Masoud ; Coonen, Edith ; van Buul-van Zwet, Marianne L. ; Homminga, Irene ; Derijck, Alwin A. H. A. ; Brandts, Lloyd ; Stumpel, Constance T. R. M. ; de Die-Smulders, Christine E. M.
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2023-08, Vol.31 (8), p.918-924
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Parental repeat length instability in myotonic dystrophy type 1 pre- and protomutations
Author / Creator:Joosten, Isis B. T. ; Hellebrekers, Debby M. E. I. ; de Greef, Bianca T. A. ; Smeets, Hubert J. M. ; de Die-Smulders, Christine E. M. ; Faber, Catharina G. ; Gerrits, Monique M.
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2020-07, Vol.28 (7), p.956-962
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A comprehensive strategy for exome-based preconception carrier screening
Author / Creator:Sallevelt, Suzanne C.E.H. ; de Koning, Bart ; Szklarczyk, Radek ; Paulussen, Aimee D.C. ; de Die-Smulders, Christine E.M. ; Smeets, Hubert J.M.
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2017-05, Vol.19 (5), p.583-592
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De novo mtDNA point mutations are common and have a low recurrence risk
Author / Creator:Sallevelt, Suzanne C E H ; de Die-Smulders, Christine E M ; Hendrickx, Alexandra T M ; Hellebrekers, Debby M E I ; de Coo, Irenaeus F M ; Alston, Charlotte L ; Knowles, Charlotte ; Taylor, Robert W ; McFarland, Robert ; Smeets, Hubert J M
Publisher:England: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2017-02, Vol.54 (2), p.73-83
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Diagnosing Juvenile Huntington’s Disease: An Explorative Study among Caregivers of Affected Children
Author / Creator:Oosterloo, Mayke ; Bijlsma, Emilia K. ; de Die-Smulders, Christine ; Roos, Raymund A. C.
Publisher:Switzerland: MDPI
Journal title:Brain sciences, 2020-03, Vol.10 (3), p.155
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Non-invasive prenatal testing: ethical issues explored
Author / Creator:de Jong, Antina ; Dondorp, Wybo J ; de Die-Smulders, Christine E M ; Frints, Suzanne G M ; de Wert, Guido M W R
Publisher:Cham: Springer International Publishing
Journal title:European journal of human genetics : EJHG, 2010-03, Vol.18 (3), p.272-277
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Preimplantation genetic diagnosis (PGD) for Huntington's disease: the experience of three European centres
Author / Creator:Van Rij, Maartje C ; De Rademaeker, Marjan ; Moutou, Céline ; Dreesen, Jos CFM ; De Rycke, Martine ; Liebaers, Inge ; Geraedts, Joep PM ; De Die-Smulders, Christine EM ; Viville, Stéphane
Publisher:Basingstoke: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2012-04, Vol.20 (4), p.368-375
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Ovarian stimulation for IVF and risk of primary breast cancer in BRCA1/2 mutation carriers
Author / Creator:Derks-Smeets, Inge A. P. ; Schrijver, Lieske H. ; de Die-Smulders, Christine E. M. ; Tjan-Heijnen, Vivianne C. G. ; van Golde, Ron J. T. ; Smits, Luc J. ; Caanen, Beppy ; van Asperen, Christi J. ; Ausems, Margreet ; Collée, Margriet ; van Engelen, Klaartje ; Kets, C. Marleen ; van der Kolk, Lizet ; Oosterwijk, Jan C. ; van Os, Theo A. M. ; Rookus, Matti A. ; van Leeuwen, Flora E. ; Gómez García, Encarna B.
Publisher:London: Nature Publishing Group UK
Journal title:British journal of cancer, 2018-08, Vol.119 (3), p.357-363
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Uptake of prenatal diagnostic testing for retinoblastoma compared to other hereditary cancer syndromes in the Netherlands
Author / Creator:Dommering, Charlotte J. ; Henneman, Lidewij ; van der Hout, Annemarie H. ; Jonker, Marianne A. ; Tops, Carli M. J. ; van den Ouweland, Ans M. W. ; van der Luijt, Rob B. ; Mensenkamp, Arjen R. ; Hogervorst, Frans B. L. ; Redeker, Egbert J. W. ; de Die-Smulders, Christine E. M. ; Moll, Annette C. ; Meijers-Heijboer, Hanne
Publisher:Dordrecht: Springer Netherlands
Journal title:Familial cancer, 2017-04, Vol.16 (2), p.271-277
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Preimplantation genetic diagnosis in mitochondrial DNA disorders: challenge and success
Author / Creator:Sallevelt, Suzanne C E H ; Dreesen, Joseph C F M ; Drüsedau, Marion ; Spierts, Sabine ; Coonen, Edith ; van Tienen, Florence H J ; van Golde, Ronald J T ; de Coo, Irineus F M ; Geraedts, Joep P M ; de Die-Smulders, Christine E M ; Smeets, Hubert J M
Publisher:London: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2013-02, Vol.50 (2), p.125-132
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SNP array-based copy number and genotype analyses for preimplantation genetic diagnosis of human unbalanced translocations
Author / Creator:van Uum, Chris MJ ; Stevens, Servi JC ; Dreesen, Joseph CFM ; Drüsedau, Marion ; Smeets, Hubert J ; Hollanders-Crombach, Bertien ; Die-Smulders, Christine EM de ; Geraedts, Joep PM ; Engelen, John JM ; Coonen, Edith
Publisher:Basingstoke: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2012-09, Vol.20 (9), p.938-944
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Exploring the preferences of involved health professionals regarding the implementation of an online decision aid to support couples during reproductive decision-making in hereditary cancer: a mixed m...
Author / Creator:Reumkens, Kelly ; de Die-Smulders, Christine E. M. ; van Osch, Liesbeth A. D. M.
Publisher:Dordrecht: Springer Netherlands
Journal title:Familial cancer, 2019-04, Vol.18 (2), p.285-291
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Showing 1 to 20 of 49 results

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Diagnostic exome-based preconception carrier testing in consanguineous couples: results from the first 100 couples in clinical practice

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Advances in prenatal screening: the ethical dimension

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Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study

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Structural and functional cardiac changes in myotonic dystrophy type 1: a cardiovascular magnetic resonance study

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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

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Microarrays as a diagnostic tool in prenatal screening strategies: ethical reflection

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PLS3 Mutations in X-Linked Osteoporosis with Fractures

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Analysis of severely affected patients with dihydropyrimidine dehydrogenase deficiency reveals large intragenic rearrangements of DPYD and a de novo interstitial deletion del(1)(p13.3p21.3)

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Preimplantation genetic testing for Neurofibromatosis type 1: more than 20 years of clinical experience

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Parental repeat length instability in myotonic dystrophy type 1 pre- and protomutations

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A comprehensive strategy for exome-based preconception carrier screening

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De novo mtDNA point mutations are common and have a low recurrence risk

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Diagnosing Juvenile Huntington’s Disease: An Explorative Study among Caregivers of Affected Children

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Non-invasive prenatal testing: ethical issues explored

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Preimplantation genetic diagnosis (PGD) for Huntington's disease: the experience of three European centres

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Ovarian stimulation for IVF and risk of primary breast cancer in BRCA1/2 mutation carriers

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Uptake of prenatal diagnostic testing for retinoblastoma compared to other hereditary cancer syndromes in the Netherlands

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Preimplantation genetic diagnosis in mitochondrial DNA disorders: challenge and success

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SNP array-based copy number and genotype analyses for preimplantation genetic diagnosis of human unbalanced translocations

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Exploring the preferences of involved health professionals regarding the implementation of an online decision aid to support couples during reproductive decision-making in hereditary cancer: a mixed m...

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