Search Results - "de Man, Stella A."

DLG4-related synaptopathy: a new rare brain disorder by Rodríguez-Palmero, Agustí, Boerrigter, Melissa Maria, Gómez-Andrés, David, Aldinger, Kimberly A., Marcos-Alcalde, Íñigo, Popp, Bernt, Everman, David B., Lovgren, Alysia Kern, Arpin, Stephanie, Bahrambeigi, Vahid, Beunders, Gea, Bisgaard, Anne-Marie, Bjerregaard, V. A., Bruel, Ange-Line, Challman, Thomas D., Cogné, Benjamin, Coubes, Christine, de Man, Stella A., Denommé-Pichon, Anne-Sophie, Dye, Thomas J., Elmslie, Frances, Feuk, Lars, García-Miñaúr, Sixto, Gertler, Tracy, Giorgio, Elisa, Gruchy, Nicolas, Haack, Tobias B., Haldeman-Englert, Chad R., Haukanes, Bjørn Ivar, Hoyer, Juliane, Hurst, Anna C. E., Isidor, Bertrand, Soller, Maria Johansson, Kushary, Sulagna, Kvarnung, Malin, Landau, Yuval E., Leppig, Kathleen A., Lindstrand, Anna, Kleinendorst, Lotte, MacKenzie, Alex, Mandrile, Giorgia, Mendelsohn, Bryce A., Moghadasi, Setareh, Morton, Jenny E., Moutton, Sebastien, Müller, Amelie J., O’Leary, Melanie, Pacio-Míguez, Marta, Palomares-Bralo, Maria, Parikh, Sumit, Pfundt, Rolph, Pode-Shakked, Ben, Rauch, Anita, Repnikova, Elena, Revah-Politi, Anya, Ross, Meredith J., Ruivenkamp, Claudia A. L., Sarrazin, Elisabeth, Savatt, Juliann M., Schlüter, Agatha, Schönewolf-Greulich, Bitten, Shad, Zohra, Shaw-Smith, Charles, Shieh, Joseph T., Shohat, Motti, Spranger, Stephanie, Thiese, Heidi, Mau-Them, Frederic Tran, van Bon, Bregje, van de Burgt, Ineke, van de Laar, Ingrid M. B. H., van Drie, Esmée, van Haelst, Mieke M., van Ravenswaaij-Arts, Conny M., Verdura, Edgard, Vitobello, Antonio, Waldmüller, Stephan, Whiting, Sharon, Zweier, Christiane, Prada, Carlos E., de Vries, Bert B. A., Dobyns, William B., Reiter, Simone F., Gómez-Puertas, Paulino, Pujol, Aurora, Tümer, Zeynep

“…Purpose Postsynaptic density protein-95 (PSD-95), encoded by DLG4 , regulates excitatory synaptic function in the brain. Here we present the clinical and…”
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Broadening the phenotypic spectrum of pathogenic LARP7 variants: two cases with intellectual disability, variable growth retardation and distinct facial features by Hollink, Iris H I M, Alfadhel, Majid, Al-Wakeel, Anwar S, Ababneh, Farough, Pfundt, Rolph, de Man, Stella A, Jamra, Rami Abou, Rolfs, Arndt, Bertoli-Avella, Aida M, van de Laar, Ingrid M B H

“…In 2012 Alazami et al. described a novel syndromic cause of primordial dwarfism with distinct facial features and severe intellectual disability. A homozygous…”
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Human KCNQ5 de novo mutations underlie epilepsy and intellectual disability by Wei, Aguan D, Wakenight, Paul, Zwingman, Theresa A, Bard, Angela M, Sahai, Nikhil, Willemsen, Marjolein H, Schelhaas, Helenius J, Stegmann, Alexander P A, Verhoeven, Judith S, de Man, Stella A, Wessels, Marja W, Kleefstra, Tjitske, Shinde, Deepali N, Helbig, Katherine L, Basinger, Alice, Wagner, Victoria F, Rodriguez-Buritica, David, Bryant, Emily, Millichap, John J, Millen, Kathleen J, Dobyns, William B, Ramirez, Jan-Marino, Kalume, Franck K

“…We identified six novel de novo human variants in children with motor/language delay, intellectual disability (ID), and/or epilepsy by whole exome sequencing…”
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De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes by Scala, Marcello, Drouot, Nathalie, MacLennan, Suzanna C., Wessels, Marja W., Krygier, Magdalena, Pavinato, Lisa, Telegrafi, Aida, Man, Stella A., Slegtenhorst, Marjon, Iacomino, Michele, Madia, Francesca, Scudieri, Paolo, Uva, Paolo, Giacomini, Thea, Nobile, Giulia, Mancardi, Maria Margherita, Balagura, Ganna, Galloni, Giovanni Battista, Verrotti, Alberto, Umair, Muhammad, Khan, Amjad, Liebelt, Jan, Schmidts, Miriam, Langer, Thorsten, Brusco, Alfredo, Lipska‐Ziętkiewicz, Beata S., Saris, Jasper J., Charlet‐Berguerand, Nicolas, Zara, Federico, Striano, Pasquale, Piton, Amélie

“…Alternative splicing (AS) is crucial for cell‐type‐specific gene transcription and plays a critical role in neuronal differentiation and synaptic plasticity…”
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Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy by Parenti, Ilaria, Lehalle, Daphné, Nava, Caroline, Torti, Erin, Leitão, Elsa, Person, Richard, Mizuguchi, Takeshi, Matsumoto, Naomichi, Kato, Mitsuhiro, Nakamura, Kazuyuki, de Man, Stella A., Cope, Heidi, Shashi, Vandana, Friedman, Jennifer, Joset, Pascal, Steindl, Katharina, Rauch, Anita, Muffels, Irena, van Hasselt, Peter M., Petit, Florence, Smol, Thomas, Le Guyader, Gwenaël, Bilan, Frédéric, Sorlin, Arthur, Vitobello, Antonio, Philippe, Christophe, van de Laar, Ingrid M. B. H., van Slegtenhorst, Marjon A., Campeau, Philippe M., Au, Ping Yee Billie, Nakashima, Mitsuko, Saitsu, Hirotomo, Yamamoto, Tatsuya, Nomura, Yumiko, Louie, Raymond J., Lyons, Michael J., Dobson, Amy, Plomp, Astrid S., Motazacker, M. Mahdi, Kaiser, Frank J., Timberlake, Andrew T., Fuchs, Sabine A., Depienne, Christel, Mignot, Cyril

“…Located in the critical 1p36 microdeletion region, the chromodomain helicase DNA-binding protein 5 ( CHD5 ) gene encodes a subunit of the nucleosome remodeling…”
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Variants in SCAF4 Cause a Neurodevelopmental Disorder and Are Associated with Impaired mRNA Processing by Fliedner, Anna, Kirchner, Philipp, Wiesener, Antje, van de Beek, Irma, Waisfisz, Quinten, van Haelst, Mieke, Scott, Daryl A., Lalani, Seema R., Rosenfeld, Jill A., Azamian, Mahshid S., Xia, Fan, Dutra-Clarke, Marina, Martinez-Agosto, Julian A., Lee, Hane, Nelson, Stanley F., Grody, Wayne W., Lee, Hane, Deignan, Joshua L., Kang, Sung-Hae, Arboleda, Valerie A., Senaratne, T. Niroshi, Dorrani, Naghmeh, Dutra-Clarke, Marina S., Kianmahd, Jessica, Hinkamp, Franceska L., Neustadt, Ahna M., Martinez-Agosto, Julian A., Fogel, Brent L., Quintero-Rivera, Fabiola, Noh, Grace J., Lippa, Natalie, Alkelai, Anna, Aggarwal, Vimla, Agre, Katherine E., Gavrilova, Ralitza, Mirzaa, Ghayda M., Straussberg, Rachel, Cohen, Rony, Horist, Brooke, Krishnamurthy, Vidya, McWalter, Kirsty, Juusola, Jane, Davis-Keppen, Laura, Ohden, Lisa, van Slegtenhorst, Marjon, de Man, Stella A., Ekici, Arif B., Gregor, Anne, van de Laar, Ingrid, Zweier, Christiane

“…RNA polymerase II interacts with various other complexes and factors to ensure correct initiation, elongation, and termination of mRNA transcription. One of…”
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The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8 by Dingemans, Alexander J. M., Truijen, Kim M. G., van de Ven, Sam, Bernier, Raphael, Bongers, Ernie M. H. F., Bouman, Arjan, de Graaff – Herder, Laura, Eichler, Evan E., Gerkes, Erica H., De Geus, Christa M., van Hagen, Johanna M., Jansen, Philip R., Kerkhof, Jennifer, Kievit, Anneke J. A., Kleefstra, Tjitske, Maas, Saskia M., de Man, Stella A., McConkey, Haley, Patterson, Wesley G., Dobson, Amy T., Prijoles, Eloise J., Sadikovic, Bekim, Relator, Raissa, Stevenson, Roger E., Stumpel, Connie T. R. M., Heijligers, Malou, Stuurman, Kyra E., Löhner, Katharina, Zeidler, Shimriet, Lee, Jennifer A., Lindy, Amanda, Zou, Fanggeng, Tedder, Matthew L., Vissers, Lisenka E. L. M., de Vries, Bert B. A.

“…CHD8 , a major autism gene, functions in chromatin remodelling and has various roles involving several biological pathways. Therefore, unsurprisingly, previous…”
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Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome by Maas, Saskia M, Shaw, Adam C, Bikker, Hennie, Lüdecke, Hermann-Josef, van der Tuin, Karin, Badura-Stronka, Magdalena, Belligni, Elga, Biamino, Elisa, Bonati, Maria Teresa, Carvalho, Daniel R, Cobben, JanMaarten, de Man, Stella A, Den Hollander, Nicolette S, Di Donato, Nataliya, Garavelli, Livia, Grønborg, Sabine, Herkert, Johanna C, Hoogeboom, A. Jeannette M, Jamsheer, Aleksander, Latos-Bielenska, Anna, Maat-Kievit, Anneke, Magnani, Cinzia, Marcelis, Carlo, Mathijssen, Inge B, Nielsen, Maartje, Otten, Ellen, Ousager, Lilian B, Pilch, Jacek, Plomp, Astrid, Poke, Gemma, Poluha, Anna, Posmyk, Renata, Rieubland, Claudine, Silengo, Margharita, Simon, Marleen, Steichen, Elisabeth, Stumpel, Connie, Szakszon, Katalin, Polonkai, Edit, van den Ende, Jenneke, van der Steen, Antony, van Essen, Ton, van Haeringen, Arie, van Hagen, Johanna M, Verheij, Joke B.G.M, Mannens, Marcel M, Hennekam, Raoul C

“…Abstract Tricho-rhino-phalangeal syndrome (TRPS) is characterized by craniofacial and skeletal abnormalities, and subdivided in TRPS I, caused by mutations in…”
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Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome by Van Houdt, Jeroen K J, Nowakowska, Beata Anna, Sousa, Sérgio B, van Schaik, Barbera D C, Seuntjens, Eve, Avonce, Nelson, Sifrim, Alejandro, Abdul-Rahman, Omar A, van den Boogaard, Marie-José H, Bottani, Armand, Castori, Marco, Cormier-Daire, Valérie, Deardorff, Matthew A, Filges, Isabel, Fryer, Alan, Fryns, Jean-Pierre, Gana, Simone, Garavelli, Livia, Gillessen-Kaesbach, Gabriele, Hall, Bryan D, Horn, Denise, Huylebroeck, Danny, Klapecki, Jakub, Krajewska-Walasek, Malgorzata, Kuechler, Alma, Lines, Matthew A, Maas, Saskia, MacDermot, Kay D, McKee, Shane, Magee, Alex, de Man, Stella A, Moreau, Yves, Morice-Picard, Fanny, Obersztyn, Ewa, Pilch, Jacek, Rosser, Elizabeth, Shannon, Nora, Stolte-Dijkstra, Irene, Van Dijck, Patrick, Vilain, Catheline, Vogels, Annick, Wakeling, Emma, Wieczorek, Dagmar, Wilson, Louise, Zuffardi, Orsetta, van Kampen, Antoine H C, Devriendt, Koenraad, Hennekam, Raoul, Vermeesch, Joris Robert

“…Joris Vermeesch, Raoul Hennekam and colleagues show that missense mutations in the SWI/SNF family member gene SMARCA2 cause Nicolaides-Baraitser syndrome, a…”
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Molecular analysis of the erythroid phenotype of a patient with BCL11A haploinsufficiency by Wessels, Marja W., Cnossen, Marjon H., van Dijk, Thamar B., Gillemans, Nynke, Schmidt, K. L. Juliëtte, van Lom, Kirsten, Vinjamur, Divya S., Coyne, Steven, Kurita, Ryo, Nakamura, Yukio, de Man, Stella A., Pfundt, Rolph, Azmani, Zakia, Brouwer, Rutger W.W., Bauer, Daniel E., van den Hout, Mirjam C.G.N., van IJcken, Wilfred F.J., Philipsen, Sjaak

“…The BCL11A gene encodes a transcriptional repressor with essential functions in multiple tissues during human development. Haploinsufficiency for BCL11A causes…”
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Correction: Broadening the phenotypic spectrum of pathogenic LARP7 variants: two cases with intellectual disability, variable growth retardation and distinct facial features by Hollink, Iris H I M, Alfadhel, Majid, Al-Wakeel, Anwar S, Ababneh, Farough, Pfundt, Rolph, de Man, Stella A, Abou Jamra, Rami, Rolfs, Arndt, Bertoli-Avella, Aida M, van de Laar, Ingrid M B H

“…Correction to: Journal of Human Genetics (2016) 61, 229-33 https://doi.org/10.1038/jhg.2015.134 ; published online 26 November 2015…”
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Automated radiogrammetry is a feasible method for measuring bone quality and bone maturation in severely disabled children by Mergler, Sandra, de Man, Stella A., Boot, Annemieke M., Heus, Karen G. C. B. Bindels-de, Huijbers, Wim A. R., van Rijn, Rick R., Penning, Corine, Evenhuis, Heleen M.

“…Background Children with severe neurological impairment and intellectual disability are prone to low bone quality and fractures. Objective We studied the…”
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Expanding Phenotype of ATP1A3 - Related Disorders: A Case Series by De Vrieze, Jelena, van de Laar, Ingrid M.B.H., de Rijk-van Andel, Johanneke F., Kamsteeg, Erik-Jan, Kotsopoulos, Irene A.W., de Man, Stella A.

“…Neurologic disorders caused by mutations in the ATP1A3 gene were originally reported as three distinct rare clinical syndromes: Alternating Hemiplegia of…”
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The c.1A > C start codon mutation in CLN3 is associated with a protracted disease course by Kuper, Willemijn F. E., Alfen, Claudia, Eck, Linda, Man, Stella A., Willemsen, Marjolein H., Gassen, Koen L. I., Losekoot, Monique, Hasselt, Peter M.

“…Background CLN3 disease is a disorder of lysosomal homeostasis predominantly affecting the retina and the brain. The severity of the underlying mutations in…”
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Black discolouration of urine in two young sisters by Martens, Tine, van Gammeren, Adriaan J., Huijmans, Jan G.M., de Man, Stella A.

“…See Answer…”
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Epidemiology of low bone mineral density and fractures in children with severe cerebral palsy: a systematic review by MERGLER, SANDRA, EVENHUIS, HELEEN M, BOOT, ANNEMIEKE M, DE MAN, STELLA A, B BINDELS‐DE HEUS, KAREN G C, HUIJBERS, WIM A R, PENNING, CORINE

“…Aim  Children with severe cerebral palsy (CP) are at risk for developing low bone mineral density (BMD) and low‐impact fractures. The aim of this study was to…”
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Phenotypic variability of atypical 22q11.2 deletions not including TBX1 by Verhagen, Judith M.A., Diderich, Karin E.M., Oudesluijs, Grétel, Mancini, Grazia M.S., Eggink, Alex J., Verkleij-Hagoort, Anna C., Groenenberg, Irene A.L., Willems, Patrick J., du Plessis, Frederik A., de Man, Stella A., Srebniak, Malgorzata I., van Opstal, Diane, Hulsman, Lorette O.M., van Zutven, Laura J.C.M., Wessels, Marja W.

“…Interstitial deletions of the chromosome 22q11.2 region are the most common microdeletions in humans. The TBX1 gene is considered to be the major candidate…”
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A familial inverted duplication 2q33–q34 identified and delineated by multiple cytogenetic techniques by Eussen, Bert H, van de Laar, Ingrid, Douben, Hannie, van Kempen, Leo, Hochstenbach, Ron, De Man, Stella A, Van Opstal, Diane, de Klein, Annelies, Poddighe, Pino J

“…Abstract We describe a unique family with two children having a delay in psychomotor development. In both children we identified an interstitial duplication…”
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Blood pressure in childhood: pooled findings of six European studies by de Man, S A, André, J L, Bachmann, H, Grobbee, D E, Ibsen, K K, Laaser, U, Lippert, P, Hofman, A

“…In an attempt to study and prevent the development of hypertension, there is a growing interest in measuring blood pressure in children. The aim of this is to…”
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Health care transition in young people with intellectual disabilities: from generalist to generalist by de Man, Stella A, Aarts-Tesselaar, Coranne D, Festen, Dederieke A M

“…The transition of medical care in young people with intellectual disabilities is not well organised in the Netherlands. This heterogeneous group, with a high…”
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