Search Results - "Wieczorek Dagmar"

Diagnostic approach to microcephaly in childhood: a two‐center study and review of the literature by Hagen, Maja, Pivarcsi, Mark, Liebe, Juliane, Bernuth, Horst, Didonato, Nataliya, Hennermann, Julia B, Bührer, Christoph, Wieczorek, Dagmar, Kaindl, Angela M

“…Aim The aim of this study was to assess the diagnostic approach to microcephaly in childhood and to identify the prevalence of the various underlying…”
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RPA and Rad51 constitute a cell intrinsic mechanism to protect the cytosol from self DNA by Wolf, Christine, Rapp, Alexander, Berndt, Nicole, Staroske, Wolfgang, Schuster, Max, Dobrick-Mattheuer, Manuela, Kretschmer, Stefanie, König, Nadja, Kurth, Thomas, Wieczorek, Dagmar, Kast, Karin, Cardoso, M. Cristina, Günther, Claudia, Lee-Kirsch, Min Ae

“…Immune recognition of cytosolic DNA represents a central antiviral defence mechanism. Within the host, short single-stranded DNA (ssDNA) continuously arises…”
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Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study by Rauch, Anita, Prof, Wieczorek, Dagmar, MD, Graf, Elisabeth, MSc, Wieland, Thomas, MSc, Endele, Sabine, PhD, Schwarzmayr, Thomas, MSc, Albrecht, Beate, MD, Bartholdi, Deborah, MD, Beygo, Jasmin, MSc, Di Donato, Nataliya, MD, Dufke, Andreas, MD, Cremer, Kirsten, MD, Hempel, Maja, MD, Horn, Denise, MD, Hoyer, Juliane, MD, Joset, Pascal, PhD, Röpke, Albrecht, PhD, Moog, Ute, MD, Riess, Angelika, MD, Thiel, Christian T, MD, Tzschach, Andreas, MD, Wiesener, Antje, MD, Wohlleber, Eva, MD, Zweier, Christiane, MD, Ekici, Arif B, PhD, Zink, Alexander M, MSc, Rump, Andreas, PhD, Meisinger, Christa, MD, Grallert, Harald, PhD, Sticht, Heinrich, PhD, Schenck, Annette, PhD, Engels, Hartmut, PhD, Rappold, Gudrun, Prof, Schröck, Evelin, Prof, Wieacker, Peter, Prof, Riess, Olaf, Prof, Meitinger, Thomas, Prof, Reis, André, Prof, Strom, Tim M, Dr

“…Summary Background The genetic cause of intellectual disability in most patients is unclear because of the absence of morphological clues, information about…”
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Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1 by Appelhof, Bart, Wagner, Matias, Hoefele, Julia, Heinze, Anja, Roser, Timo, Koch-Hogrebe, Margarete, Roosendaal, Stefan D, Dehghani, Mohammadreza, Mehrjardi, Mohammad Yahya Vahidi, Torti, Erin, Houlden, Henry, Maroofian, Reza, Rajabi, Farrah, Sticht, Heinrich, Baas, Frank, Wieczorek, Dagmar, Jamra, Rami Abou

“…Pontocerebellar hypoplasia (PCH) describes a group of rare heterogeneous neurodegenerative diseases with prenatal onset. Here we describe eight children with…”
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Haploinsufficiency of ARID1B, a Member of the SWI/SNF-A Chromatin-Remodeling Complex, Is a Frequent Cause of Intellectual Disability by Hoyer, Juliane, Ekici, Arif B., Endele, Sabine, Popp, Bernt, Zweier, Christiane, Wiesener, Antje, Wohlleber, Eva, Dufke, Andreas, Rossier, Eva, Petsch, Corinna, Zweier, Markus, Göhring, Ina, Zink, Alexander M., Rappold, Gudrun, Schröck, Evelin, Wieczorek, Dagmar, Riess, Olaf, Engels, Hartmut, Rauch, Anita, Reis, André

“…Intellectual disability (ID) is a clinically and genetically heterogeneous common condition that remains etiologically unresolved in the majority of cases…”
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Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes by Endele, Sabine, Rosenberger, Georg, Geider, Kirsten, Popp, Bernt, Tamer, Ceyhun, Stefanova, Irina, Milh, Mathieu, Kortum, Fanny, Fritsch, Angela, Pientka, Friederike K, Hellenbroich, Yorck, Kalscheuer, Vera M, Kohlhase, Jurgen, Moog, Ute, Rappold, Gudrun, Rauch, Anita, Ropers, Hans-Hilger, von Spiczak, Sarah, Tonnies, Holger, Villeneuve, Nathalie, Villard, Laurent, Zabel, Bernhard, Zenker, Martin, Laube, Bodo, Reis, Andre, Wieczorek, Dagmar, Van Maldergem, Lionel, Kutsche, Kerstin

“…N-methyl-D-aspartate (NMDA) receptors mediate excitatory neurotransmission in the mammalian brain. Two glycine-binding NR1 subunits and two glutamate-binding…”
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Maternal transmission of a mild Coffin-Siris syndrome phenotype caused by a SOX11 missense variant by Hanker, Britta, Gillessen-Kaesbach, Gabriele, Hüning, Irina, Lüdecke, Hermann-Josef, Wieczorek, Dagmar

“…Here we report for the first time on the maternal transmission of mild Coffin-Siris syndrome (CSS) caused by a SOX11 missense variant. We present two sisters…”
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Fatal metabolic decompensation in carbonic anhydrase VA deficiency despite early treatment and control of hyperammonemia by Baertling, Fabian, Wagner, Matias, Brunet, Theresa, Sabir, Hemmen, Wieczorek, Dagmar, Meitinger, Thomas, Meissner, Thomas, Distelmaier, Felix

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Mutations in U4atac snRNA, a Component of the Minor Spliceosome, in the Developmental Disorder MOPD I by He, Huiling, Liyanarachchi, Sandya, Akagi, Keiko, Nagy, Rebecca, Li, Jingfeng, Dietrich, Rosemary C., Li, Wei, Sebastian, Nikhil, Wen, Bernard, Xin, Baozhong, Singh, Jarnail, Yan, Pearlly, Alder, Hansjuerg, Haan, Eric, Wieczorek, Dagmar, Albrecht, Beate, Puffenberger, Erik, Wang, Heng, Westman, Judith A., Padgett, Richard A., Symer, David E., de la Chapelle, Albert

“…Small nuclear RNAs (snRNAs) are essential factors in messenger RNA splicing. By means of homozygosity mapping and deep sequencing, we show that a gene encoding…”
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Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders by Duncan, Anna R., Polovitskaya, Maya M., Gaitán-Peñas, Héctor, Bertelli, Sara, VanNoy, Grace E., Grant, Patricia E., O’Donnell-Luria, Anne, Valivullah, Zaheer, Lovgren, Alysia Kern, England, Elaina M., Agolini, Emanuele, Madden, Jill A., Schmitz-Abe, Klaus, Kritzer, Amy, Hawley, Pamela, Novelli, Antonio, Alfieri, Paolo, Colafati, Giovanna Stefania, Wieczorek, Dagmar, Platzer, Konrad, Luppe, Johannes, Koch-Hogrebe, Margarete, Abou Jamra, Rami, Neira-Fresneda, Juanita, Lehman, Anna, Boerkoel, Cornelius F., Seath, Kimberly, Clarke, Lorne, van Ierland, Yvette, Argilli, Emanuela, Sherr, Elliott H., Maiorana, Andrea, Diel, Thilo, Hempel, Maja, Bierhals, Tatjana, Estévez, Raúl, Jentsch, Thomas J., Pusch, Michael, Agrawal, Pankaj B.

“…The genetic causes of global developmental delay (GDD) and intellectual disability (ID) are diverse and include variants in numerous ion channels and…”
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Mutations in SMARCB1 and in other Coffin–Siris syndrome genes lead to various brain midline defects by Filatova, Alina, Rey, Linda K., Lechler, Marion B., Schaper, Jörg, Hempel, Maja, Posmyk, Renata, Szczaluba, Krzysztof, Santen, Gijs W. E., Wieczorek, Dagmar, Nuber, Ulrike A.

“…Mutations in genes encoding components of BAF (BRG1/BRM-associated factor) chromatin remodeling complexes cause neurodevelopmental disorders and tumors. The…”
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De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome by Mirzaa, Ghayda M, Parry, David A, Fry, Andrew E, Giamanco, Kristin A, Schwartzentruber, Jeremy, Vanstone, Megan, Logan, Clare V, Roberts, Nicola, Johnson, Colin A, Singh, Shawn, Kholmanskikh, Stanislav S, Adams, Carissa, Hodge, Rebecca D, Hevner, Robert F, Bonthron, David T, Braun, Kees P J, Faivre, Laurence, Rivière, Jean-Baptiste, St-Onge, Judith, Gripp, Karen W, Mancini, Grazia M S, Pang, Ki, Sweeney, Elizabeth, van Esch, Hilde, Verbeek, Nienke, Wieczorek, Dagmar, Steinraths, Michelle, Majewski, Jacek, Boycott, Kym M, Pilz, Daniela T, Ross, M Elizabeth, Dobyns, William B, Sheridan, Eamonn G

“…Eamonn Sheridan, Elizabeth Ross and colleagues report discovery of a new megalencephaly syndrome caused by de novo missense mutations in CCND2 . They show that…”
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Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome by Dauwerse, Johannes G, Dixon, Jill, Seland, Saskia, Ruivenkamp, Claudia A L, van Haeringen, Arie, Hoefsloot, Lies H, Peters, Dorien J M, Boers, Agnes Clement-de, Daumer-Haas, Cornelia, Maiwald, Robert, Zweier, Christiane, Kerr, Bronwyn, Cobo, Ana M, Toral, Joaquín F, Hoogeboom, A Jeannette M, Lohmann, Dietmar R, Hehr, Ute, Dixon, Michael J, Breuning, Martijn H, Wieczorek, Dagmar

“…We identified a deletion of a gene encoding a subunit of RNA polymerases I and III, POLR1D, in an individual with Treacher Collins syndrome (TCS)…”
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Genetic screening confirms heterozygous mutations in ACAN as a major cause of idiopathic short stature by Hauer, Nadine N., Sticht, Heinrich, Boppudi, Sangamitra, Büttner, Christian, Kraus, Cornelia, Trautmann, Udo, Zenker, Martin, Zweier, Christiane, Wiesener, Antje, Jamra, Rami Abou, Wieczorek, Dagmar, Kelkel, Jaqueline, Jung, Anna-Maria, Uebe, Steffen, Ekici, Arif. B, Rohrer, Tilman, Reis, André, Dörr, Helmuth-Günther, Thiel, Christian T.

“…Short stature is a common pediatric disorder affecting 3% of the population. However, the clinical variability and genetic heterogeneity prevents the…”
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Mutations in SRCAP, Encoding SNF2-Related CREBBP Activator Protein, Cause Floating-Harbor Syndrome by Hood, Rebecca L., Lines, Matthew A., Nikkel, Sarah M., Schwartzentruber, Jeremy, Beaulieu, Chandree, Nowaczyk, Małgorzata J.M., Allanson, Judith, Kim, Chong Ae, Wieczorek, Dagmar, Moilanen, Jukka S., Lacombe, Didier, Gillessen-Kaesbach, Gabriele, Whiteford, Margo L., Quaio, Caio Robledo D.C., Gomy, Israel, Bertola, Debora R., Albrecht, Beate, Platzer, Konrad, McGillivray, George, Zou, Ruobing, McLeod, D. Ross, Chudley, Albert E., Chodirker, Bernard N., Marcadier, Janet, Majewski, Jacek, Bulman, Dennis E., White, Susan M., Boycott, Kym M.

“…Floating-Harbor syndrome (FHS) is a rare condition characterized by short stature, delayed osseous maturation, expressive-language deficits, and a distinctive…”
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Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes by Parenti, Ilaria, Teresa-Rodrigo, María E., Pozojevic, Jelena, Ruiz Gil, Sara, Bader, Ingrid, Braunholz, Diana, Bramswig, Nuria C., Gervasini, Cristina, Larizza, Lidia, Pfeiffer, Lutz, Ozkinay, Ferda, Ramos, Feliciano, Reiz, Benedikt, Rittinger, Olaf, Strom, Tim M., Watrin, Erwan, Wendt, Kerstin, Wieczorek, Dagmar, Wollnik, Bernd, Baquero-Montoya, Carolina, Pié, Juan, Deardorff, Matthew A., Gillessen-Kaesbach, Gabriele, Kaiser, Frank J.

“…The coordinated tissue-specific regulation of gene expression is essential for the proper development of all organisms. Mutations in multiple transcriptional…”
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Mutations in PRDM15 Are a Novel Cause of Galloway-Mowat Syndrome by Mann, Nina, Mzoughi, Slim, Schneider, Ronen, Kühl, Susanne J, Schanze, Denny, Klämbt, Verena, Lovric, Svjetlana, Mao, Youying, Shi, Shasha, Tan, Weizhen, Kühl, Michael, Onuchic-Whitford, Ana C, Treimer, Ernestine, Kitzler, Thomas M, Kause, Franziska, Schumann, Sven, Nakayama, Makiko, Buerger, Florian, Shril, Shirlee, van der Ven, Amelie T, Majmundar, Amar J, Holton, Kristina Marie, Kolb, Amy, Braun, Daniela A, Rao, Jia, Jobst-Schwan, Tilman, Mildenberger, Eva, Lennert, Thomas, Kuechler, Alma, Wieczorek, Dagmar, Gross, Oliver, Ermisch-Omran, Beate, Werberger, Anja, Skalej, Martin, Janecke, Andreas R, Soliman, Neveen A, Mane, Shrikant M, Lifton, Richard P, Kadlec, Jan, Guccione, Ernesto, Schmeisser, Michael J, Zenker, Martin, Hildebrandt, Friedhelm

“…Galloway-Mowat syndrome (GAMOS) is characterized by neurodevelopmental defects and a progressive nephropathy, which typically manifests as steroid-resistant…”
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Elucidating the genetic architecture of Adams–Oliver syndrome in a large European cohort by Meester, Josephina A.N., Sukalo, Maja, Schröder, Kim C., Schanze, Denny, Baynam, Gareth, Borck, Guntram, Bramswig, Nuria C., Duman, Duygu, Gilbert‐Dussardier, Brigitte, Holder‐Espinasse, Muriel, Itin, Peter, Johnson, Diana S., Joss, Shelagh, Koillinen, Hannele, McKenzie, Fiona, Morton, Jenny, Nelle, Heike, Reardon, Willie, Roll, Claudia, Salih, Mustafa A., Savarirayan, Ravi, Scurr, Ingrid, Splitt, Miranda, Thompson, Elizabeth, Titheradge, Hannah, Travers, Colm P., Maldergem, Lionel, Whiteford, Margo, Wieczorek, Dagmar, Vandeweyer, Geert, Trembath, Richard, Laer, Lut, Loeys, Bart L., Zenker, Martin, Southgate, Laura, Wuyts, Wim

“…Adams–Oliver syndrome (AOS) is a rare developmental disorder, characterized by scalp aplasia cutis congenita (ACC) and transverse terminal limb defects (TTLD)…”
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Choline transporter-like 1 deficiency causes a new type of childhood-onset neurodegeneration by Fagerberg, Christina R, Taylor, Adrian, Distelmaier, Felix, Schrøder, Henrik D, Kibæk, Maria, Wieczorek, Dagmar, Tarnopolsky, Mark, Brady, Lauren, Larsen, Martin J, Jamra, Rami A, Seibt, Annette, Hejbøl, Eva Kildall, Gade, Else, Markovic, Ljubo, Klee, Dirk, Nagy, Peter, Rouse, Nicholas, Agarwal, Prasoon, Dolinsky, Vernon W, Bakovic, Marica

“…Cerebral choline metabolism is crucial for normal brain function, and its homoeostasis depends on carrier-mediated transport. Here, we report on four…”
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QRICH1 variants in Ververi‐Brady syndrome—delineation of the genotypic and phenotypic spectrum by Föhrenbach, Melanie, Jamra, Rami Abou, Borkhardt, Arndt, Brozou, Triantafyllia, Muschke, Petra, Popp, Bernt, Rey, Linda K., Schaper, Jörg, Surowy, Harald, Zenker, Martin, Zweier, Christiane, Wieczorek, Dagmar, Redler, Silke

“…Ververi‐Brady syndrome (VBS, # 617982) is a rare developmental disorder, and loss‐of‐function variants in QRICH1 were implicated in its etiology. Furthermore,…”
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