Items where Author is "Wieczorek, Dagmar"

Article

Lessel, Ivana and Baresic, Anja and Chinn, Ivan K. and May, Jonathan and Goenka, Anu and Chandler, Kate E. and Posey, Jennifer E. and Afenjar, Alexandra and Averdunk, Luisa and Bedeschi, Maria Francesca and Besnard, Thomas and Brager, Rae and Brick, Lauren and Brugger, Melanie and Brunet, Theresa and Byrne, Susan and de la Calle-Martin, Oscar and Capra, Valeria and Cardenas, Paul and Chappe, Celine and Chong, Hey J. and Cogne, Benjamin and Conboy, Erin and Cope, Heidi and Courtin, Thomas and Deb, Wallid and Dilena, Robertino and Dubourg, Christele and Elgizouli, Magdeldin and Fernandes, Erica and Fitzgerald, Kristi K. and Gangi, Silvana and George-Abraham, Jaya K. and Gucsavas-Calikoglu, Muge and Haack, Tobias B. and Hadonou, Medard and Hanker, Britta and Huning, Irina and Iascone, Maria and Isidor, Bertrand and Jarvela, Irma and Jin, Jay J. and Jorge, Alexander A. L. and Josifova, Dragana and Kalinauskiene, Ruta and Kamsteeg, Erik-Jan and Keren, Boris and Kessler, Elena and Koelbel, Heike and Kozenko, Mariya and Kubisch, Christian and Kuechler, Alma and Leal, Suzanne M. and Leppala, Juha and Luu, Sharon M. and Lyon, Gholson J. and Madan-Khetarpal, Suneeta and Mancardi, Margherita and Marchi, Elaine and Mehta, Lakshmi and Menendez, Beatriz and Morel, Chantal F. and Harasink, Sue Moyer and Nevay, Dayna-Lynn and Nigro, Vincenzo and Odent, Sylvie and Oegema, Renske and Pappas, John and Pastore, Matthew T. and Perilla-Young, Yezmin and Platzer, Konrad and Powell-Hamilton, Nina and Rabin, Rachel and Rekab, Aisha and Rezende, Raissa C. and Robert, Leema and Romano, Ferruccio and Scala, Marcello and Poths, Karin and Schrauwen, Isabelle and Sebastian, Jessica and Short, John and Sidlow, Richard and Sullivan, Jennifer and Szakszon, Katalin and Tan, Queenie K. G. and Wagner, Matias and Wieczorek, Dagmar and Yuan, Bo and Maeding, Nicole and Strunk, Dirk and Begtrup, Amber and Banka, Siddharth and Lupski, James R. and Tolosa, Eva and Lessel, Davor (2025) DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders. AMERICAN JOURNAL OF HUMAN GENETICS, 112 (2). pp. 394-413. ISSN 0002-9297, 1537-6605

Brock, Stefanie and Vanderhasselt, Tim and Vermaning, Sietske and Keymolen, Kathelijn and Regal, Luc and Romaniello, Romina and Wieczorek, Dagmar and Storm, Tim Matthias and Schaeferhoff, Karin and Hehr, Ute and Kuechler, Alma and Kraegeloh-Mann, Ingeborg and Haack, Tobias B. and Kasteleijn, Esmee and Schot, Rachel and Mancini, Grazia Maria Simonetta and Webster, Richard and Mohammad, Shekeeb and Leventer, Richard J. and Mirzaa, Ghayda and Dobyns, William B. and Bahi-Buisson, Nadia and Meuwissen, Marije and Jansen, Anna C. and Stouffs, Katrien (2021) Defining the phenotypical spectrum associated with variants in TUBB2A. JOURNAL OF MEDICAL GENETICS, 58 (1). pp. 33-40. ISSN 0022-2593, 1468-6244

Hinreiner, Sophie and Wieczorek, Dagmar and Mueller, Dietmar and Roedl, Tanja and Thiel, Gundula and Grasshoff, Ute and Chaoui, Rabih and Hehr, Ute (2018) Further evidence for complex inheritance of holoprosencephaly: Lessons learned from pre- and postnatal diagnostic testing in Germany. AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS, 178 (2). pp. 198-205. ISSN 1552-4868, 1552-4876

Kuechler, Alma and Czeschik, Johanna Christina and Graf, Elisabeth and Grasshoff, Ute and Hueffmeier, Ulrike and Busa, Tiffany and Beck-Woedl, Stefanie and Faivre, Laurence and Riviere, Jean-Baptiste and Bader, Ingrid and Koch, Johannes and Reis, Andre and Hehr, Ute and Rittinger, Olaf and Sperl, Wolfgang and Haack, Tobias B. and Wieland, Thomas and Engels, Hartmut and Prokisch, Holger and Strom, Tim M. and Luedecke, Hermann-Josef and Wieczorek, Dagmar (2017) Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition. EUROPEAN JOURNAL OF HUMAN GENETICS, 25 (2). pp. 183-191. ISSN 1018-4813, 1476-5438

Weaver, K. Nicole and Watt, Kristin E. Noack and Hufnagel, Robert B. and Acedo, Joaquin Navajas and Linscott, Luke L. and Sund, Kristen L. and Bender, Patricia L. and Koenig, Rainer and Lourenco, Charles M. and Hehr, Ute and Hopkin, Robert J. and Lohmann, Dietmar R. and Trainor, Paul A. and Wieczorek, Dagmar and Saal, Howard M. (2015) Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A Dysfunction. AMERICAN JOURNAL OF HUMAN GENETICS, 96 (5). pp. 765-774. ISSN 0002-9297, 1537-6605

Wieczorek, Dagmar and Newman, William G. and Wieland, Thomas and Berulava, Tea and Kaffe, Maria and Falkenstein, Daniela and Beetz, Christian and Graf, Elisabeth and Schwarzmayr, Thomas and Douzgou, Sofia and Clayton-Smith, Jill and Daly, Sarah B. and Williams, Simon G. and Bhaskar, Sanjeev S. and Urquhart, Jill E. and Anderson, Beverley and O'Sullivan, James and Boute, Odile and Gundlach, Jasmin and Czeschik, Johanna Christina and van Essen, Anthonie J. and Hazan, Filiz and Park, Sarah and Hing, Anne and Kuechler, Alma and Lohmann, Dietmar R. and Ludwig, Kerstin U. and Mangold, Elisabeth and Steenpass, Laura and Zeschnigk, Michael and Lemke, Johannes R. and Lourenco, Charles Marques and Hehr, Ute and Prott, Eva-Christina and Waldenberger, Melanie and Boehmer, Anne C. and Horsthemke, Bernhard and O'Keefe, Raymond T. and Meitinger, Thomas and Bum, John and Luedecke, Hermann-Josef and Strom, Tim M. (2014) Compound Heterozygosity of Low-Frequency Promoter Deletions and Rare Loss-of-Function Mutations in TXNL4A Causes Burn-McKeown Syndrome. AMERICAN JOURNAL OF HUMAN GENETICS, 95 (6). pp. 698-707. ISSN 0002-9297, 1537-6605

Czeschik, Johanna Christina and Hehr, Ute and Hartmann, Britta and Luedecke, Hermann-Josef and Rosenbaum, Thorsten and Schweiger, Bernd and Wieczorek, Dagmar (2013) 160 kb deletion in ISPD unmasking a recessive mutation in a patient with Walker-Warburg syndrome. EUROPEAN JOURNAL OF MEDICAL GENETICS, 56 (12). pp. 689-694. ISSN 1769-7212, 1878-0849

Voigt, Claudia and Megarbane, Andre and Neveling, Kornelia and Czeschik, Johanna Christina and Albrecht, Beate and Callewaert, Bert and von Deimling, Florian and Hehr, Andreas and Smeland, Marie Falkenberg and Konig, Rainer and Kuechler, Alma and Marcelis, Carlo and Puiu, Maria and Reardon, Willie and Stensland, Hilde Monica Frostad Riise and Schweiger, Bernd and Steehouwer, Marloes and Teller, Christopher and Martin, Marcel and Rahmann, Sven and Hehr, Ute and Brunner, Han G. and Ludecke, Hermann-Josef and Wieczorek, Dagmar (2013) Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations. ORPHANET JOURNAL OF RARE DISEASES, 8: 110. ISSN 1750-1172

Lines, Matthew A. and Huang, Lijia and Schwartzentruber, Jeremy and Douglas, Stuart L. and Lynch, Danielle C. and Beaulieu, Chandree and Guion-Almeida, Maria Leine and Zechi-Ceide, Roseli Maria and Gener, Blanca and Gillessen-Kaesbach, Gabriele and Nava, Caroline and Baujat, Genevieve and Horn, Denise and Kini, Usha and Caliebe, Almuth and Alanay, Yasemin and Utine, Gulen Eda and Lev, Dorit and Kohlhase, Jurgen and Grix, Arthur W. and Lohmann, Dietmar R. and Hehr, Ute and Boehm, Detlef and Majewski, Jacek and Bulman, Dennis E. and Wieczorek, Dagmar and Boycott, Kym M. (2012) Haploinsufficiency of a Spliceosomal GTPase Encoded by EFTUD2 Causes Mandibulofacial Dysostosis with Microcephaly. AMERICAN JOURNAL OF HUMAN GENETICS, 90 (2). pp. 369-377. ISSN 0002-9297, 1537-6605

Schlump, Jan-Ulrich and Stein, Anja and Hehr, Ute and Karen, Tanja and Moeller-Hartmann, Claudia and Elcioglu, Nursel H. and Bogdanova, Nadja and Woike, Hartmut Fritz and Lohmann, Dietmar R. and Felderhoff-Mueser, Ursula and Linz, Annette and Wieczorek, Dagmar (2012) Treacher Collins syndrome: clinical implications for the paediatrician-a new mutation in a severely affected newborn and comparison with three further patients with the same mutation, and review of the literature. EUROPEAN JOURNAL OF PEDIATRICS, 171 (11). pp. 1611-1618. ISSN 0340-6199, 1432-1076

Dauwerse, Johannes G. and Dixon, Jill and Seland, Saskia and Ruivenkamp, Claudia A. L. and van Haeringen, Arie and Hoefsloot, Lies H. and Peters, Dorien J. M. and Boers, Agnes Clement-de and Daumer-Haas, Cornelia and Maiwald, Robert and Zweier, Christiane and Kerr, Bronwyn and Cobo, Ana M. and Toral, Joaquin F. and Hoogeboom, A. Jeannette M. and Lohmann, Dietmar R. and Hehr, Ute and Dixon, Michael J. and Breuning, Martijn H. and Wieczorek, Dagmar (2011) Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome. NATURE GENETICS, 43 (1). pp. 20-22. ISSN 1061-4036

Kortuem, Fanny and Das, Soma and Flindt, Max and Morris-Rosendahl, Deborah J. and Stefanova, Irina and Goldstein, Amy and Horn, Denise and Klopocki, Eva and Kluger, Gerhard and Martin, Peter and Rauch, Anita and Roumer, Agathe and Saitta, Sulagna and Walsh, Laurence E. and Wieczorek, Dagmar and Uyanik, Goekhan and Kutsche, Kerstin and Dobyns, William B. (2011) The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis. JOURNAL OF MEDICAL GENETICS, 48 (6). pp. 396-406. ISSN 0022-2593

Solomon, Benjamin D. and Lacbawan, Felicitas and Mercier, Sandra and Clegg, Nancy J. and Delgado, Mauricio R. and Rosenbaum, Kenneth and Dubourg, Christele and David, Veronique and Olney, Ann Haskins and Wehner, Lars-Erik and Hehr, Ute and Bale, Sherri and Paulussen, Aimee and Smeets, Hubert J. and Hardisty, Emily and Tylki-Szymanska, Anna and Pronicka, Ewa and Clemens, Michelle and McPherson, Elizabeth and Hennekam, Raoul C. M. and Hahn, Jin and Stashinko, Elaine and Levey, Eric and Wieczorek, Dagmar and Roeder, Elizabeth and Schell-Apacik, Chayim Can and Booth, Carol W. and Thomas, Ronald L. and Kenwrick, Sue and Cummings, Derek A. T. and Bous, Sophia M. and Keaton, Amelia and Balog, Joan Z. and Hadley, Donald and Zhou, Nan and Long, Robert and Velez, Jorge I. and Pineda-Alvarez, Daniel E. and Odent, Sylvie and Roessler, Erich and Muenke, Maximilian (2010) Mutations in ZIC2 in human holoprosencephaly: description of a Novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals. JOURNAL OF MEDICAL GENETICS, 47 (8). pp. 513-524. ISSN 0022-2593

Wieczorek, Dagmar and Gener, Blanca and Martinez Gonzalez, Ma Jesus and Seland, Saskia and Fischer, Sven and Hehr, Ute and Kuechler, Alma and Hoefsloot, Lies H. and de Leeuw, Nicole and Gillessen-Kaesbach, Gabriele and Lohmann, Dietmar R. (2009) Microcephaly, Microtia, Preauricular Tags, Choanal Atresia and Developmental Delay in Three Unrelated Patients: A Mandibulofacial Dysostosis Distinct From Treacher Collins Syndrome. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 149A (5). pp. 837-843. ISSN 1552-4825

Michalk, Anne and Stricker, Sigmar and Becker, Jutta and Rupps, Rosemarie and Pantzar, Tapio and Miertus, Jan and Botta, Giovanni and Naretto, Valeria G. and Janetzki, Catrin and Yaqoob, Nausheen and Ott, Claus-Eric and Seelow, Dominik and Wieczorek, Dagmar and Fiebig, Britta and Wirth, Brunhilde and Hoopmann, Markus and Walther, Marisa and Koerber, Friederike and Blankenburg, Markus and Mundlos, Stefan and Heller, Raoul and Hoffmann, Katrin (2008) Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders. AMERICAN JOURNAL OF HUMAN GENETICS, 82 (2). pp. 464-476. ISSN 0002-9297, 1537-6605

Wieczorek, Dagmar and Shaw-Smith, Charles and Kohlhase, Juergen and Schmitt, Wolfgang and Buiting, Karin and Coffey, Alison and Howard, Eleanor and Hehr, Ute and Gillessen-Kaesbach, Gabriele (2007) Esophageal atresia, hypoplasia of zygomatic complex, microcephaly, cup-shaped ears, congenital heart defect, and mental retardation - New MCA/MR syndrome in two affected sibs and a mildly affected mother? AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 143A (11). pp. 1135-1142. ISSN 1552-4825

Tasse, C. and Bohringer, S. and Fischer, S. and Luedecke, H.J. and Albrecht, B. and Horn, D and Janecke, A. and Kling, R. and Konig, R. and Lorenz, Birgit and Majewski, F. and Maeyens, E. and Meinecke, P. and Mitulla, B. and Mohr, C. and Preischl, M. and Umstadt, H. and Kohlhase, J. and Gillessen-Kaesbach, G. and Wieczorek, Dagmar (2005) Oculo-auriculo-vertebral spectrum (OAVS): clinical evaluation and severity scoring of 53 patients and proposal for a new classification. EUROPEAN JOURNAL OF MEDICAL GENETICS, 48 (4). pp. 397-411. ISSN 1769-7212, 1878-0849