Search Results - "Lichtenbelt, K. D."

Prenatal genetic confirmation of a COL4A1 mutation presenting with sonographic fetal intracranial hemorrhage by Lichtenbelt, K. D., Pistorius, L. R., De Tollenaer, S. M., Mancini, G. M., De Vries, L. S.

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A known and a novel mutation in the glycine decarboxylase gene in a newborn with classic nonketotic hyperglycinemia by Beijer, P, Lichtenbelt, K D, Hofstede, F C, Nikkels, P G J, Lemmers, P, de Vries, L S

“…A term neonate displayed typical features of nonketotic hyperglycinemia (NKH). Conventional magnetic resonance imaging showed corpus callosum hypoplasia and…”
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Does confined placental mosaicism account for adverse perinatal outcomes in IVF pregnancies? by Jacod, B.C., Lichtenbelt, K.D., Schuring-Blom, G.H., Laven, J.S.E., van Opstal, D., Eijkemans, M.J.C., Macklon, N.S.

“…BACKGROUND IVF singletons have poorer perinatal outcomes than singletons from spontaneous conceptions. This may be due to the influence of ovarian stimulation…”
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Characteristic MR Imaging Findings of the Neonatal Brain in RASopathies by Cizmeci, M N, Lequin, M, Lichtenbelt, K D, Chitayat, D, Kannu, P, James, A G, Groenendaal, F, Chakkarapani, E, Blaser, S, de Vries, L S

“…Neuroimaging features in neonates with RASopathies are rarely reported, and to date, there are no neuroimaging studies conducted in this population. Our aim…”
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Unexplained False Negative Results in Noninvasive Prenatal Testing: Two Cases Involving Trisomies 13 and 18 by Kusters, K., Akkermans, O., Ploos van Amstel, J. K., Schuring-Blom, G. H., van Zon, P., Manten, G. T. R., Brouwer, T., van Harssel, J. J. T., Lichtenbelt, K. D., van Oppen, A. C. C., Page-Christiaens, G. C. M. L., Hochstenbach, R., Elferink, M.

“…Noninvasive prenatal testing (NIPT) validation studies show high sensitivity and specificity for detection of trisomies 13, 18, and 21. False negative cases…”
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Symmetrical Thalamic Lesions in the Newborn: A Case Series by Pols, T, de Vries, L S, Salamon, A Soltirovska, Nikkels, P G J, Lichtenbelt, K D, Mulder-de Tollenaer, S M, van Wezel-Meijler, G

“…Although bilateral injury to the thalami is often seen in (near)term infants with hypoxic ischemic encephalopathy (HIE), symmetrical thalamic lesions (STL) is…”
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From karyotyping to array-CGH in prenatal diagnosis by Lichtenbelt, K D, Knoers, N V A M, Schuring-Blom, G H

“…Conventional karyotyping detects chromosomal anomalies in up to 35% of pregnancies with fetal ultrasound anomalies, depending on the number and type of these…”
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Supernumerary ring chromosome 7 mosaicism: Case report, investigation of the gene content, and delineation of the phenotype by Lichtenbelt, K.D., Hochstenbach, R., van Dam, W.M., Eleveld, M.J., Poot, M., Beemer, F.A.

“…We report a girl with severe retardation of expressive speech development carrying a small, supernumerary ring chromosome derived from the proximal region of…”
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Detection of fetal chromosomal anomalies: does nuchal translucency measurement have added value in the era of non-invasive prenatal testing? by Lichtenbelt, K. D., Diemel, B. D. M., Koster, M. P. H., Manten, G. T. R., Siljee, J., Schuring-Blom, G. H., Page-Christiaens, G. C. M. L.

“…Objectives The objective of this study is to determine what percentage of fetal chromosomal anomalies remains undetected when first trimester combined testing…”
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Detection of Fetal Chromosomal Anomalies: Does Nuchal Translucency Measurement Have Added Value in the Era of Non-invasive Prenatal Testing? by Lichtenbelt, K D, Diemel, B. D M, Koster, M. P H, Manten, G. T R, Siljee, J, Schuring-Blom, G H, Page-Christiaens, G. C. M L

“…ABSTRACTIn the Netherlands, first-trimester combined testing (FCT), including the measurement of fetal nuchal translucency (NT) thickness, has been offered to…”
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Audiometric characteristics of two Dutch families with non-ocular Stickler syndrome (COL11A2) by van Beelen, E., Leijendeckers, J.M., Huygen, P.L.M., Admiraal, R.J.C., Hoefsloot, L.H., Lichtenbelt, K.D., Stöbe, L., Pennings, R.J.E., Leuwer, R., Snik, A.F.M., Kunst, H.P.M.

“…To evaluate hearing impairment and cochlear function in non-ocular Stickler syndrome. Multifamily study. Ten patients from two different families with…”
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A novel distinctive cerebrovascular phenotype is associated with heterozygous Arg179 ACTA2 mutations by MUNOT, Pinki, SAUNDERS, Dawn E, JACQUES, Thomas S, COX, Timothy C, GANESAN, Vijeya, MILEWICZ, Dianna M, REGALADO, Ellen S, OSTERGAARD, John R, BRAUN, Kees P, KERR, Timothy, LICHTENBELT, Klaske D, PHILIP, Sunny, RITTEY, Christopher

“…Mutations in the ACTA2 gene lead to diffuse and diverse vascular diseases; the Arg179His mutation is associated with an early onset severe phenotype due to…”
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Translational strategies to uncover the etiology of congenital anomalies of the kidney and urinary tract by Vendrig, Lisanne M, Ten Hoor, Mayke A C, König, Benthe H, Lekkerkerker, Iris, Renkema, Kirsten Y, Schreuder, Michiel F, van der Zanden, Loes F M, van Eerde, Albertien M, Groen In 't Woud, Sander, Mulder, Jaap, Westland, Rik

“…While up to 50% of children requiring kidney replacement therapy have congenital anomalies of the kidney and urinary tract (CAKUT), they represent only a…”
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Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia by Allali, Slimane, Le Goff, Carine, Pressac-Diebold, Isabelle, Pfennig, Gwendoline, Mahaut, Clémentine, Dagoneau, Nathalie, Alanay, Yasemin, Brady, Angela F, Crow, Yanick J, Devriendt, Koen, Drouin-Garraud, Valérie, Flori, Elisabeth, Geneviève, David, Hennekam, Raoul C, Hurst, Jane, Krakow, Deborah, Le Merrer, Martine, Lichtenbelt, Klaske D, Lynch, Sally A, Lyonnet, Stanislas, MacDermot, Kay, Mansour, Sahar, Megarbané, André, Santos, Heloisa G, Splitt, Miranda, Superti-Furga, Andrea, Unger, Sheila, Williams, Denise, Munnich, Arnold, Cormier-Daire, Valérie

“…Geleophysic dysplasia (GD, OMIM 231050) is an autosomal recessive disorder characterised by short stature, small hands and feet, stiff joints, and thick skin…”
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COL4A1 Mutation: Expansion of the Phenotype by de Vries, L S, Pistorius, L, Lichtenbelt, K D, Koopman, C, Meuwissen, M E C, Mancini, G M S

“…Background: COL4A1 is a major basement membrane component, providing basement membrane stability. Mutations in COL4A1 lead to a small-vessel brain disease,…”
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DIAGNOSTIC ACCURACY OF HISTOPATHOLOGICAL SCORING OF RECTOSIGMOIDAL BIOPSIES VERSUS (ILEO)COLONIC BIOPSIES IN CHILDREN WITH INFLAMMATORY BOWEL DISEASE by Escher, J C, Lichtenbelt, K D, Schornagel, I L, Kate, FJW, Taminiau, JAJM

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DIAGNOSTIC ACCURACY OF HISTOPATHOLOGICAL SCORING OF RECTOSIGMOIDAL BIOPSIES VERSUS (ILEO)COLONIC BIOPSIES IN CHILDREN WITH INFLAMMATORY BOWEL DISEASE by Escher, J C, Lichtenbelt, K D, Schornagel, I L, ten Kate, FJW, Taminiau, JAJM

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DIAGNOSTIC ACCURACY OF HISTOPATHOLOGICAL SCORING OF RECTOSIGMOIDAL BIOPSIES VERSUS (ILEO)COLONIC BIOPSIES IN CHILDREN WITH INFLAMMATORY BOWEL DISEASE by Escher, J C, Lichtenbelt, K D, Schornagel, I L, ten Kate, FJW, Taminiau, JAJM

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Prenatal genetic confirmation of a COL4A1 mutation presenting with sonographic fetal intracranial hemorrhage by Lichtenbelt, K D, Pistorius, L R, De Tollenaer, S M, Mancini, G M, De Vries, L S

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