Search Results - "Lichtenbelt, Klaske D"

Patient-specific induced pluripotent stem-cell-derived models of LEOPARD syndrome by Carvajal-Vergara, Xonia, Lemischka, Ihor R, Sevilla, Ana, D'Souza, Sunita L, Ang, Yen-Sin, Schaniel, Christoph, Lee, Dung-Fang, Yang, Lei, Kaplan, Aaron D, Adler, Eric D, Rozov, Roye, Ge, YongChao, Cohen, Ninette, Edelmann, Lisa J, Chang, Betty, Waghray, Avinash, Su, Jie, Pardo, Sherly, Lichtenbelt, Klaske D, Tartaglia, Marco, Gelb, Bruce D

“…The generation of reprogrammed induced pluripotent stem cells (iPSCs) from patients with defined genetic disorders holds the promise of increased understanding…”
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De novo variants in CUL3 are associated with global developmental delays with or without infantile spasms by Nakashima, Mitsuko, Kato, Mitsuhiro, Matsukura, Masaru, Kira, Ryutaro, Ngu, Lock-Hock, Lichtenbelt, Klaske D, van Gassen, Koen L I, Mitsuhashi, Satomi, Saitsu, Hirotomo, Matsumoto, Naomichi

“…The ubiquitin-proteasome system is the principal system for protein degradation mediated by ubiquitination and is involved in various cellular processes…”
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De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment by Hempel, Maja, Cremer, Kirsten, Ockeloen, Charlotte W., Lichtenbelt, Klaske D., Herkert, Johanna C., Denecke, Jonas, Haack, Tobias B., Zink, Alexander M., Becker, Jessica, Wohlleber, Eva, Johannsen, Jessika, Alhaddad, Bader, Pfundt, Rolph, Fuchs, Sigrid, Wieczorek, Dagmar, Strom, Tim M., van Gassen, Koen L.I., Kleefstra, Tjitske, Kubisch, Christian, Engels, Hartmut, Lessel, Davor

“…CHAMP1 encodes a protein with a function in kinetochore-microtubule attachment and in the regulation of chromosome segregation, both of which are known to be…”
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The Impact of BRCA1- and BRCA2 Mutations on Ovarian Reserve Status by C E, Drechsel Katja, C, van Tilborg Theodora, J C, Eijkemans Marinus, G W M, Lentjes Eef, Irene, Homminga, Mariette, Goddijn, J T, van Golde Ron, Willem, Verpoest, D, Lichtenbelt Klaske, J M, Broekmans Frank, M E, Bos Anna

“…This study aimed to investigate whether female BRCA1- and BRCA2 mutation carriers have a reduced ovarian reserve status, based on serum anti-Mullerian hormone…”
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Trial by Dutch laboratories for evaluation of non-invasive prenatal testing. Part II-women's perspectives by van Schendel, Rachèl V., Page-Christiaens, G. C. (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

“…Objective To evaluate preferences and decision‐making among high‐risk pregnant women offered a choice between Non‐Invasive Prenatal Testing (NIPT), invasive…”
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NANS-CDG: Delineation of the Genetic, Biochemical, and Clinical Spectrum by den Hollander, Bibiche, Rasing, Anne, Post, Merel A., Klein, Willemijn M., Oud, Machteld M., Brands, Marion M., de Boer, Lonneke, Engelke, Udo F. H., van Essen, Peter, Fuchs, Sabine A., Haaxma, Charlotte A., Jensson, Brynjar O., Kluijtmans, Leo A. J., Lengyel, Anna, Lichtenbelt, Klaske D., Østergaard, Elsebet, Peters, Gera, Salvarinova, Ramona, Simon, Marleen E. H., Stefansson, Kari, Thorarensen, Ólafur, Ulmen, Ulrike, Coene, Karlien L. M., Willemsen, Michèl A., Lefeber, Dirk J., Karnebeek, Clara D. M. van

“…Background: NANS-CDG is a recently described congenital disorder of glycosylation caused by biallelic genetic variants in NANS , encoding an essential enzyme…”
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Trends in the utilization of invasive prenatal diagnosis in The Netherlands during 2000-2009 by Lichtenbelt, Klaske D., Alizadeh, Behrooz Z., Scheffer, Peter G., Stoutenbeek, Philip, Schielen, Peter C. J. I., Page-Christiaens, Lieve C. M. L., Schuring-Blom, G. Heleen

“…Objective To analyze trends in the number and type of invasive procedure, reasons for referral, maternal age and chromosomal abnormalities over a 10‐year…”
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Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing: Follow-up results of the TRIDENT-2 study by van Prooyen Schuurman, Lisanne, Sistermans, Erik A., Van Opstal, Diane, Henneman, Lidewij, Bekker, Mireille N., Bax, Caroline J., Pieters, Mijntje J., Bouman, Katelijne, de Munnik, Sonja, den Hollander, Nicolette S., Diderich, Karin E.M., Faas, Brigitte H.W., Feenstra, Ilse, Go, Attie T.J.I., Hoffer, Mariëtte J.V., Joosten, Marieke, Komdeur, Fenne L., Lichtenbelt, Klaske D., Lombardi, Maria P., Polak, Marike G., Jehee, Fernanda S., Schuring-Blom, Heleen, Stevens, Servi J.C., Srebniak, Malgorzata I., Suijkerbuijk, Ron F., Tan-Sindhunata, Gita M., van der Meij, Karuna R.M., van Maarle, Merel C., Vernimmen, Vivian, van Zelderen-Bhola, Shama L., van Ravesteyn, Nicolien T., Knapen, Maarten F.C.M., Macville, Merryn V.E., Galjaard, Robert-Jan H.

“…In the TRIDENT-2 study, all pregnant women in the Netherlands are offered genome-wide non-invasive prenatal testing (GW-NIPT) with a choice of receiving either…”
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Phenotypic variability in patients with ADA2 deficiency due to identical homozygous R169Q mutations by 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, Legger, G Elizabeth, 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

“…To determine the genotype-phenotype association in patients with adenosine deaminase-2 (ADA2) deficiency due to identical homozygous R169Q mutations inCECR1…”
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Intestinal Failure and Aberrant Lipid Metabolism in Patients With DGAT1 Deficiency by 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

“…Congenital diarrheal disorders are rare inherited intestinal disorders characterized by intractable, sometimes life-threatening, diarrhea and nutrient…”
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PLS3 Mutations in X-Linked Osteoporosis with Fractures by 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

“…The authors report data from five families with pathogenic variants in the gene for plastin 3, PLS3. Findings in these families and in zebrafish indicate that…”
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Rapid whole exome sequencing in pregnancies to identify the underlying genetic cause in fetuses with congenital anomalies detected by ultrasound imaging by Deden, Chantal, Neveling, Kornelia, Zafeiropopoulou, Dimitra, Gilissen, Christian, Pfundt, Rolph, Rinne, Tuula, Leeuw, Nicole, Faas, Brigitte, Gardeitchik, Thatjana, Sallevelt, Suzanne C. E. H., Paulussen, Aimee, Stevens, Servi J. C., Sikkel, Esther, Elting, Mariet W., Maarle, Merel C., Diderich, Karin E. M., Corsten‐Janssen, Nicole, Lichtenbelt, Klaske D., Lachmeijer, Guus, Vissers, Lisenka E. L. M., Yntema, Helger G., Nelen, Marcel, Feenstra, Ilse, Zelst‐Stams, Wendy A. G.

“…Objective The purpose of this study was to explore the diagnostic yield and clinical utility of trio‐based rapid whole exome sequencing (rWES) in pregnancies…”
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Noninvasive Prenatal Test Results Indicative of Maternal Malignancies: A Nationwide Genetic and Clinical Follow-Up Study by Heesterbeek, Catharina J, Aukema, Sietse M, Galjaard, Robert-Jan H, Boon, Elles M J, Srebniak, Malgorzata I, Bouman, Katelijne, Faas, Brigitte H W, Govaerts, Lutgarde C P, Hoffer, Mariëtte J V, den Hollander, Nicolette S, Lichtenbelt, Klaske D, van Maarle, Merel C, van Prooyen Schuurman, Lisanne, van Rij, Maartje C, Schuring-Blom, G Heleen, Stevens, Servi J C, Tan-Sindhunata, Gita, Zamani Esteki, Masoud, de Die-Smulders, Christine E M, Tjan-Heijnen, Vivianne C G, Henneman, Lidewij, Sistermans, Erik A, Macville, Merryn V E

“…Noninvasive prenatal testing (NIPT) for fetal aneuploidy screening using cell-free DNA derived from maternal plasma can incidentally raise suspicion for…”
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Identification of human D lactate dehydrogenase deficiency by Monroe, Glen R., van Eerde, Albertien M., Tessadori, Federico, Duran, Karen J., Savelberg, Sanne M. C., van Alfen, Johanna C., Terhal, Paulien A., van der Crabben, Saskia N., Lichtenbelt, Klaske D., Fuchs, Sabine A., Gerrits, Johan, van Roosmalen, Markus J., van Gassen, Koen L., van Aalderen, Mirjam, Koot, Bart G., Oostendorp, Marlies, Duran, Marinus, Visser, Gepke, de Koning, Tom J., Calì, Francesco, Bosco, Paolo, Geleijns, Karin, de Sain-van der Velden, Monique G. M., Knoers, Nine V., Bakkers, Jeroen, Verhoeven-Duif, Nanda M., van Haaften, Gijs, Jans, Judith J.

“…Phenotypic and biochemical categorization of humans with detrimental variants can provide valuable information on gene function. We illustrate this with the…”
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Preimplantation Genetic Testing for Monogenic Kidney Disease by Snoek, Rozemarijn, Stokman, Marijn F, Lichtenbelt, Klaske D, van Tilborg, Theodora C, Simcox, Cindy E, Paulussen, Aimée D C, Dreesen, Jos C M F, van Reekum, Franka, Lely, A Titia, Knoers, Nine V A M, de Die-Smulders, Christine E M, van Eerde, Albertien M

“…A genetic cause can be identified for an increasing number of pediatric and adult-onset kidney diseases. Preimplantation genetic testing (formerly known as…”
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Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies by Fountain, Michael D., Oleson, David S., Rech, Megan E., Segebrecht, Lara, Hunter, Jill V., McCarthy, John M., Lupo, Philip J., Holtgrewe, Manuel, Moran, Rocio, Rosenfeld, Jill A., Isidor, Bertrand, Le Caignec, Cédric, Saenz, Margarita S., Pedersen, Robert C., Morgan, Thomas M., Pfotenhauer, Jean P., Xia, Fan, Bi, Weimin, Kang, Sung-Hae L., Patel, Ankita, Krantz, Ian D., Raible, Sarah E., Smith, Wendy, Cristian, Ingrid, Torti, Erin, Juusola, Jane, Millan, Francisca, Wentzensen, Ingrid M., Person, Richard E., Küry, Sébastien, Bézieau, Stéphane, Uguen, Kévin, Férec, Claude, Munnich, Arnold, van Haelst, Mieke, Lichtenbelt, Klaske D., van Gassen, Koen, Hagelstrom, Tanner, Chawla, Aditi, Perry, Denise L., Taft, Ryan J., Jones, Marilyn, Masser-Frye, Diane, Dyment, David, Venkateswaran, Sunita, Li, Chumei, Escobar, Luis F., Horn, Denise, Spillmann, Rebecca C., Peña, Loren, Wierzba, Jolanta, Strom, Tim M., Parenti, Ilaria, Kaiser, Frank J., Ehmke, Nadja, Schaaf, Christian P.

“…Purpose Haploinsufficiency of USP7 , located at chromosome 16p13.2, has recently been reported in seven individuals with neurodevelopmental phenotypes,…”
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Cardiovascular malformations caused by NOTCH1 mutations do not keep left: data on 428 probands with left-sided CHD and their families by 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.

“…Purpose: We aimed to determine the prevalence and phenotypic spectrum of NOTCH1 mutations in left-sided congenital heart disease (LS-CHD). LS-CHD includes…”
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Assessment of 2q23.1 Microdeletion Syndrome Implicates MBD5 as a Single Causal Locus of Intellectual Disability, Epilepsy, and Autism Spectrum Disorder by Talkowski, Michael E., Mullegama, Sureni V., Rosenfeld, Jill A., van Bon, Bregje W.M., Shen, Yiping, Repnikova, Elena A., Gastier-Foster, Julie, Thrush, Devon Lamb, Kathiresan, Sekar, Ruderfer, Douglas M., Chiang, Colby, Hanscom, Carrie, Ernst, Carl, Lindgren, Amelia M., Morton, Cynthia C., An, Yu, Astbury, Caroline, Brueton, Louise A., Lichtenbelt, Klaske D., Ades, Lesley C., Fichera, Marco, Romano, Corrado, Innis, Jeffrey W., Williams, Charles A., Bartholomew, Dennis, Van Allen, Margot I., Parikh, Aditi, Zhang, Lilei, Wu, Bai-Lin, Pyatt, Robert E., Schwartz, Stuart, Shaffer, Lisa G., de Vries, Bert B.A., Gusella, James F., Elsea, Sarah H.

“…Persons with neurodevelopmental disorders or autism spectrum disorder (ASD) often harbor chromosomal microdeletions, yet the individual genetic contributors…”
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Loss-of-function variants in myocardin cause congenital megabladder in humans and mice by Houweling, Arjan C, Beaman, Glenda M, Postma, Alex V, Gainous, T Blair, Lichtenbelt, Klaske D, Brancati, Francesco, Lopes, Filipa M, van der Made, Ingeborg, Polstra, Abeltje M, Robinson, Michael L, Wright, Kevin D, Ellingford, Jamie M, Jackson, Ashley R, Overwater, Eline, Genesio, Rita, Romano, Silvio, Camerota, Letizia, D'Angelo, Emanuela, Meijers-Heijboer, Elizabeth J, Christoffels, Vincent M, McHugh, Kirk M, Black, Brian L, Newman, William G, Woolf, Adrian S, Creemers, Esther E

“…Myocardin (MYOCD) is the founding member of a class of transcriptional coactivators that bind the serum-response factor to activate gene expression programs…”
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Unexplained early-onset lacunar stroke and inflammatory skin lesions: Consider ADA2 deficiency by Westendorp, Willeke F, Nederkoorn, Paul J, Aksentijevich, Ivona, Hak, A Elisabeth, Lichtenbelt, Klaske D, Braun, Kees P.J

“…We report 2 brothers who presented at young age with multiple lacunar strokes, inflammatory skin rash, and a range of neurologic symptoms…”
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