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dr. K.D. (Klaske) Lichtenbelt

dr. K.D. (Klaske) Lichtenbelt

Assistant Professor - medical

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Research Output (75)

Discordant NIPT result in a viable trisomy-21 pregnancy due to prolonged contribution to cfDNA by a demised trisomy-14 cotwin

Hochstenbach Ron, Elferink Martin G, van Zon Patrick H A, Lichtenbelt Klaske D, van Harssel Jeske, Schuring-Blom Heleen, Page-Christiaens Godelieve C M L May 2018, In: Clinical case reports. 6 , p. 788-791 4 p.

Intestinal Failure and Aberrant Lipid Metabolism in Patients With DGAT1 Deficiency

van Rijn Jorik M., Ardy Rico Chandra, Kuloğlu Zarife, Härter Bettina, van Haaften-Visser Désirée Y., van der Doef Hubert P.J., van Hoesel Marliek, Kansu Aydan, van Vugt Anke H.M., Thian Marini, Kokke Freddy T.M., Krolo Ana, Başaran Meryem Keçeli, Kaya Neslihan Gurcan, Aksu Aysel Ünlüsoy, Dalgıç Buket, Ozcay Figen, Baris Zeren, Kain Renate, Stigter Edwin C.A., Lichtenbelt Klaske D., Massink Maarten P.G., Duran Karen J., Verheij Joke B.G.M., Lugtenberg Dorien, Nikkels Peter G.J., Brouwer Henricus G.F., Verkade Henkjan J., Scheenstra René, Spee Bart, Nieuwenhuis Edward E.S., Coffer Paul J., Janecke Andreas R., van Haaften Gijs, Houwen Roderick H.J., Müller Thomas, Middendorp Sabine, Boztug Kaan 28 Mar 2018, In: Gastroenterology. 155 , p. 130-143.e15

Women’s Experience with Non-Invasive Prenatal Testing and Emotional Well-being and Satisfaction after Test-Results

van Schendel Rachèl V., Page-Christiaens G. C.M.Lieve, Beulen Lean, Bilardo Caterina M., de Boer Marjon A, Coumans Audrey B C, Faas Brigitte H W, van Langen Irene M., Lichtenbelt Klaske D., van Maarle Merel C, Macville Merryn V E, Oepkes Dick, Pajkrt Eva, Henneman Lidewij, 1 Dec 2017, In: Journal of Genetic Counseling. 26 , p. 1348-1356 9 p.

Accuracy of diagnosis and counseling of fetal brain anomalies prior to 24 weeks of gestational age

Snoek Rozemarijn, Albers Marieke E.W.A., Mulder Eduard J.H., Lichtenbelt Klaske D., de Vries Linda S., Nikkels Peter G.J., Cuppen Inge, Pistorius Lourens R., Manten Gwendolyn T.R., de Heus Roel 6 Jun 2017, In: Journal of Maternal-fetal & Neonatal Medicine. 31 , p. 2188-2194 7 p.

Trial by Dutch Laboratories for Evaluation of Non-Invasive Prenatal Testing. Part II - Women's Perspectives

van Schendel Rachel V, Page-Christiaens Lieve, Beulen Lean, Bilardo Catia M, de Boer Marjon A, Coumans Audrey B C, Faas Brigitte H, van Langen Irene M, Lichtenbelt Klaske D, van Maarle Merel C, Macville Merryn V E, Oepkes Dick, Pajkrt Eva, Henneman Lidewij, Dec 2016, In: Prenatal Diagnosis. 36 , p. 1091–1098

Clinical presentation and spectrum of neuroimaging findings in newborn infants with incontinentia pigmenti

Soltirovska Salamon Aneta, Lichtenbelt Klaske, Cowan Frances M, Casaer Alexandra, Dudink Jeroen, Dereymaeker Anneleen, Paro-Panjan Darja, Groenendaal Floris, de Vries Linda S Oct 2016, In: Developmental Medicine and Child Neurology. 58 , p. 1076–1084

Maternal vitamin B12 deficiency and abnormal cell-free DNA results in pregnancy

Schuring-Blom Heleen, Lichtenbelt Klaske, van Galen Karin, Elferink Martin, Weiss Marjan, Vermeesch Joris Robert, Page-Christiaens Lieve 1 Aug 2016, In: Prenatal Diagnosis. 36 , p. 790-793 4 p.

Phenotypic variability in patients with ADA2 deficiency due to identical homozygous R169Q mutations

van Montfrans Joris M., Hartman Esther A R, Braun Kees P J, Hennekam Eric A M, Hak Elisabeth A., Nederkoorn Paul J., Westendorp Willeke F., Bredius Robbert G M, Kollen Wouter J W, Schölvinck Elisabeth H., Elizabeth Legger G., Meyts Isabelle, Liston Adrian, Lichtenbelt Klaske D., Giltay Jacques C., Van Haaften Gijs, De Vries Simons Gaby M., Leavis Helen, Sanders Cornelis J G, Bierings Marc B., Nierkens Stefan, Van Gijn Marielle E. 1 May 2016, In: Rheumatology (Oxford, England). 55 , p. 902-910 9 p.

Cardiovascular malformations caused by NOTCH1 mutations do not keep left:data on 428 probands with left-sided CHD and their families

Kerstjens-Frederikse Wilhelmina S, van de Laar Ingrid M B H, Vos Yvonne J, Verhagen Judith M A, Berger Rolf M F, Lichtenbelt Klaske D, Klein Wassink-Ruiter Jolien S, van der Zwaag Paul A, du Marchie Sarvaas Gideon J, Bergman Klasien A, Bilardo Catia M, Roos-Hesselink Jolien W, Janssen Johan H P, Frohn-Mulder Ingrid M, van Spaendonck-Zwarts Karin Y, van Melle Joost P, Hofstra Robert M W, Wessels M W 2016, In: Genetics in Medicine. 18 , p. 914–923

Phenotypic variability in patients with ADA2 deficiency due to identical homozygous R169Q mutations

Van Montfrans J., Hartman E., Braun K., Hennekam F., Hak A., Nederkoorn P., Westendorp W., Bredius R., Kollen W., Scholvinck E., Legger G., Meyts I., Liston A., Lichtenbelt K., Giltay J., Van Haaften G., De Vries Simons G., Leavis H., Nierkens S., Sanders C., Van Gijn M. 28 Sep 2015, In: Pediatric Rheumatology. 13

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