Search Results - "Polstra, Abeltje M"

Familial multiple discoid fibromas is linked to a locus on chromosome 5 including the FNIP1 gene by van de Beek, Irma, Glykofridis, Iris E, Tanck, Michael W T, Luijten, Monique N H, Starink, Theo M, Balk, Jesper A, Johannesma, Paul C, Hennekam, Eric, van den Hoff, Maurice J B, Gunst, Quinn D, Gille, Johan J P, Polstra, Abeltje M, Postmus, Pieter E, van Steensel, Maurice A M, Postma, Alex V, Wolthuis, Rob M F, Menko, Fred H, Houweling, Arjan C, Waisfisz, Quinten

“…Previously, we reported a series of families presenting with trichodiscomas, inherited in an autosomal dominant pattern. The phenotype was named familial…”
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Chondrodysplasia, enchondromas and a chest deformity causing severe pulmonary morbidity in a boy with a PTHLH duplication: A case report by Tacke, Carline E., Terheggen-Lagro, Suzanne W.J., Boot, Annemieke M., Plomp, Astrid S., Polstra, Abeltje M., van Rijn, Rick R., Struijs, Peter A.A., van den Berg, Henk, Mooij, Christiaan F.

“…Parathyroid hormone-like hormone (PTHLH) plays an important role in bone formation. Several skeletal dysplasias have been described that are associated with…”
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Dynamics of Cytomegalovirus (CMV)–Specific T Cells in HIV-1–Infected Individuals Progressing to AIDS with CMV End-Organ Disease by Bronke, Corine, Palmer, Nanette M., Jansen, Christine A., Westerlaken, Geertje H. A., Polstra, Abeltje M., Reiss, Peter, Bakker, Margreet, Miedema, Frank, Tesselaar, Kiki, Baarle, Debbie van

“…BackgroundSince cytomegalovirus (CMV) infection can cause serious clinical complications in immunocompromised individuals, we assessed cellular immune…”
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CACNA1I gain-of-function mutations differentially affect channel gating and cause neurodevelopmental disorders by El Ghaleb, Yousra, Schneeberger, Pauline E, Fernández-Quintero, Monica L, Geisler, Stefanie M, Pelizzari, Simone, Polstra, Abeltje M, van Hagen, Johanna M, Denecke, Jonas, Campiglio, Marta, Liedl, Klaus R, Stevens, Cathy A, Person, Richard E, Rentas, Stefan, Marsh, Eric D, Conlin, Laura K, Tuluc, Petronel, Kutsche, Kerstin, Flucher, Bernhard E

“…T-type calcium channels (Cav3.1 to Cav3.3) regulate low-threshold calcium spikes, burst firing and rhythmic oscillations of neurons and are involved in sensory…”
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Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome by Weerts, Marjolein J. A., Lanko, Kristina, Guzmán-Vega, Francisco J., Jackson, Adam, Ramakrishnan, Reshmi, Cardona-Londoño, Kelly J., Peña-Guerra, Karla A., van Bever, Yolande, van Paassen, Barbara W., Kievit, Anneke, van Slegtenhorst, Marjon, Allen, Nicholas M., Kehoe, Caroline M., Robinson, Hannah K., Pang, Lewis, Banu, Selina H., Zaman, Mashaya, Efthymiou, Stephanie, Houlden, Henry, Järvelä, Irma, Lauronen, Leena, Määttä, Tuomo, Schrauwen, Isabelle, Leal, Suzanne M., Ruivenkamp, Claudia A. L., Barge-Schaapveld, Daniela Q.C.M., Peeters-Scholte, Cacha M. P. C. D., Galehdari, Hamid, Mazaheri, Neda, Sisodiya, Sanjay M., Harrison, Victoria, Sun, Angela, Thies, Jenny, Pedroza, Luis Alberto, Lara-Taranchenko, Yana, Chinn, Ivan K., Lupski, James R., Garza-Flores, Alexandra, McGlothlin, Jeffery, Yang, Lin, Huang, Shaoping, Wang, Xiaodong, Jewett, Tamison, Rosso, Gretchen, Lin, Xi, Mohammed, Shehla, Merritt, J. Lawrence, Mirzaa, Ghayda M., Timms, Andrew E., Scheck, Joshua, Elting, Mariet W., Polstra, Abeltje M., Schenck, Lauren, Ruzhnikov, Maura R. Z., Vetro, Annalisa, Montomoli, Martino, Guerrini, Renzo, Koboldt, Daniel C., Mosher, Theresa Mihalic, Pastore, Matthew T., McBride, Kim L., Peng, Jing, Pan, Zou, Willemsen, Marjolein, Koning, Susanne, Turnpenny, Peter D., de Vries, Bert B. A., Gilissen, Christian, Pfundt, Rolph, Lees, Melissa, Braddock, Stephen R., Klemp, Kara C., Vansenne, Fleur, van Gijn, Marielle E., Quindipan, Catherine, Deardorff, Matthew A., Hamm, J. Austin, Putnam, Abbey M., Baud, Rebecca, Walsh, Laurence, Lynch, Sally A., Baptista, Julia, Person, Richard E., Monaghan, Kristin G., Crunk, Amy, Keller-Ramey, Jennifer, Reich, Adi, Elloumi, Houda Zghal, Alders, Marielle, Kerkhof, Jennifer, McConkey, Haley, Haghshenas, Sadegheh, Maroofian, Reza, Sadikovic, Bekim, Banka, Siddharth, Arold, Stefan T., Barakat, Tahsin Stefan

“…Purpose Pathogenic variants in SETD1B have been associated with a syndromic neurodevelopmental disorder including intellectual disability, language delay, and…”
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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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Human Herpesvirus 8 Load in Matched Serum and Plasma Samples of Patients with AIDS-Associated Kaposi's Sarcoma by POLSTRA, Abeltje M, VAN DEN BURG, Remco, GOUDSMIT, Jaap, CORNELISSEN, Marion

“…Article Usage Stats Services JCM Citing Articles Google Scholar PubMed Related Content Social Bookmarking CiteULike Delicious Digg Facebook Google+ Mendeley…”
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5q11.2 deletion syndrome revisited—Further narrowing of the smallest region of overlap for the main clinical characteristics of the syndrome by Bayat, Allan, Bayat, Michael, Broers, Chantal, Polstra, Abeltje M., Zwijnenburg, Petra J. G., Hjortshøj, Tina Duelund

“…Microdeletions at 5q11.2 are rare. Subjects show a phenotypic spectrum that overlaps CHARGE syndrome and 22q11.2 deletion syndrome. A growing number of…”
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upd(20)mat is a rare cause of the Silver‐Russell‐syndrome‐like phenotype: Two unrelated cases and screening of large cohorts by Hjortshøj, Tina D., Sørensen, Anna R., Yusibova, Melodi, Hansen, Bo M., Dunø, Morten, Balslev‐Harder, Marie, Grønskov, Karen, Hagen, Johanna M., Polstra, Abeltje M., Eggermann, Thomas, Finken, Martijn J.J., Tümer, Zeynep

“…Silver‐Russell syndrome (SRS) is an imprinting disorder characterized by prenatal and postnatal growth retardation, relative macrocephaly, feeding difficulties…”
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Development of real-time NASBA assays with molecular beacon detection to quantify mRNA coding for HHV-8 lytic and latent genes by Polstra, Abeltje M, Goudsmit, J, Cornelissen, M

“…Human herpesvirus-8 (HHV-8) is linked to the pathogenesis of Kaposi's sarcoma (KS), and the HHV-8 DNA load in peripheral blood mononuclear cells (PBMC) is…”
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Capecitabine‐based treatment of a patient with a novel DPYD genotype and complete dihydropyrimidine dehydrogenase deficiency by Henricks, Linda M., Siemerink, Ester J.M., Rosing, Hilde, Meijer, Judith, Goorden, Susan M.I., Polstra, Abeltje M., Zoetekouw, Lida, Cats, Annemieke, Schellens, Jan H.M., van Kuilenburg, André B.P.

“…Fluoropyrimidines are frequently used anti‐cancer drugs. It is known that patients with reduced activity of dihydropyrimidine dehydrogenase (DPD), the key…”
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CUL3-related neurodevelopmental disorder: Clinical phenotype of 20 new individuals and identification of a potential phenotype-associated episignature by van der Laan, Liselot, Silva, Ananília, Kleinendorst, Lotte, Rooney, Kathleen, Haghshenas, Sadegheh, Lauffer, Peter, Alanay, Yasemin, Bhai, Pratibha, Brusco, Alfredo, de Munnik, Sonja, de Vries, Bert B.A., Vega, Angelica Delgado, Engelen, Marc, Herkert, Johanna C., Hochstenbach, Ron, Hopman, Saskia, Kant, Sarina G., Kira, Ryutaro, Kato, Mitsuhiro, Keren, Boris, Kroes, Hester Y., Levy, Michael A., Lock-Hock, Ngu, Maas, Saskia M., Mancini, Grazia M.S., Marcelis, Carlo, Matsumoto, Naomichi, Mizuguchi, Takeshi, Mussa, Alessandro, Mignot, Cyril, Närhi, Anu, Nordgren, Ann, Pfundt, Rolph, Polstra, Abeltje M., Trajkova, Slavica, van Bever, Yolande, José van den Boogaard, Marie, van der Smagt, Jasper J., Barakat, Tahsin Stefan, Alders, Mariëlle, Mannens, Marcel M.A.M., Sadikovic, Bekim, van Haelst, Mieke M., Henneman, Peter

“…Neurodevelopmental disorder with or without autism or seizures (NEDAUS; OMIM: 619239) is a neurodevelopmental disorder characterized by global developmental…”
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An IL-8 gene promoter polymorphism is associated with the risk of the development of AIDS-related Kaposi's sarcoma: A case-control study by VAN DER KUYL, Antoinette C, POLSTRA, Abeltje M, WEVERLING, Gerrit Jan, ZORGDRAGER, Fokla, VAN DEN BURG, Remco, CORNELISSEN, Marion

“…In a case-control study, we studied the effect of a single nucleotide polymorphism in the IL-8 promoter on the risk of the development of AIDS-related Kaposi's…”
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Retrospective, longitudinal analysis of serum human herpesvirus-8 viral DNA load in AIDS-related kaposi's sarcoma patients before and after diagnosis by Polstra, Abeltje M., Cornelissen, Marion, Goudsmit, Jaap, van der Kuyl, Antoinette C.

“…Human herpesvirus 8 (HHV‐8) is detected more often in patients progressing towards Kaposi's sarcoma (KS) than in patients who do not develop the disease,…”
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Latent and lytic HHV-8 mRNA expression in PBMCs and Kaposi's sarcoma skin biopsies of AIDS Kaposi's sarcoma patients by Polstra, Abeltje M., Goudsmit, Jaap, Cornelissen, Marion

“…Human herpes virus 8 (HHV‐8) is associated with all clinical forms of Kaposi's sarcoma. HHV‐8 DNA is present in Kaposi's sarcoma biopsies and is observed…”
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Cytomegalovirus and human herpesvirus 8 DNA detection in peripheral blood monocytic cells of AIDS patients: Correlations with the presence of Kaposi's sarcoma and CMV disease by van der Kuyl, Antoinette C., Polstra, Abeltje M., van den Burg, Remco, Jan Weverling, Gerrit, Goudsmit, Jaap, Cornelissen, Marion

“…To establish the effect of the presence in blood cells of cytomegalovirus (CMV) and human herpesvirus 8 (HHV8) DNA, two herpesviruses that are activated…”
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Two CaV3.3 (CACNA1I) Gain-of-Function Mutations Linked to Epilepsy and Intellectual Disability Affect Gating Properties and the Window Current by Ghaleb, Yousra El, Schneeberger, Pauline E., Polstra, Abeltje M., van Hagen, Johanna M., Campiglio, Marta, Denecke, Jonas, Fernandez-Quintero, Monica, Liedl, Klaus R., Kutsche, Kerstin, Flucher, Bernhard E.

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5q11.2 deletion syndrome revisited-Further narrowing of the smallest region of overlap for the main clinical characteristics of the syndrome by Bayat, Allan, Bayat, Michael, Broers, Chantal, Polstra, Abeltje M, Zwijnenburg, Petra J G, Hjortshøj, Tina Duelund

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Chondrodysplasia, enchondromas and a chest deformity causing severe pulmonary morbidity in a boy with a PTHLH duplication: A case report by Tacke, Carline E, Terheggen-Lagro, Suzanne W J, Boot, Annemieke M, Plomp, Astrid S, Polstra, Abeltje M, van Rijn, Rick R, Struijs, Peter A A, van den Berg, Henk, Mooij, Christiaan F

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