Výsledky vyhledávání - Nataliya Di Donato

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  1. 1
    Current genetic diagnostics in inborn errors of immunity

    Current genetic diagnostics in inborn errors of immunity Autor Sandra von Hardenberg, Isabel Klefenz, Doris Steinemann, Nataliya Di Donato, Ulrich Baumann, Bernd Auber, Christian Klemann

    Vydáno 2024
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  2. 2
    Lissencephaly: Expanded imaging and clinical classification

    Lissencephaly: Expanded imaging and clinical classification Autor Nataliya Di Donato, Sara Chiari, Ghayda Mirzaa, Kimberly A. Aldinger, Elena Parrini, Carissa Olds, A. James Barkovich, Renzo Guerrini, William B. Dobyns

    Vydáno 2017
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  3. 3
    Diagnostic approach to microcephaly in childhood: a two‐center study and review of the literature

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

    Vydáno 2014
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  4. 4
    Severe forms of Baraitser–Winter syndrome are caused by ACTB mutations rather than ACTG1 mutations

    Severe forms of Baraitser–Winter syndrome are caused by ACTB mutations rather than ACTG1 mutations Autor Nataliya Di Donato, Andreas Rump, Rainer Koenig, Vazken M. Der Kaloustian, Fahed Halal, K. Sonntag, Crystal Krause, Karl Hackmann, Gabriele Hahn, Evelin Schröck, Alain Verloès

    Vydáno 2013
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  5. 5
    Diagnostic value of partial exome sequencing in developmental disorders

    Diagnostic value of partial exome sequencing in developmental disorders Autor Laura Gieldon, Luisa Mackenroth, Anne‐Karin Kahlert, Johannes R. Lemke, Joseph Porrmann, Jens Schallner, Maja von der Hagen, Susanne Markus, Sabine Weidensee, Barbara Novotna, Charlotte Soerensen, Barbara Klink, Johannes Maximilian Wagner, Andreas Tzschach, Arne Jahn, Franziska Kuhlee, Karl Hackmann, Evelin Schröck, Nataliya Di Donato, Andreas Rump

    Vydáno 2018
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  6. 6
    The clinical-phenotype continuum in DYNC1H1-related disorders—genomic profiling and proposal for a novel classification

    The clinical-phenotype continuum in DYNC1H1-related disorders—genomic profiling and proposal for a novel classification Autor Lena‐Luise Becker, Hormos Salimi Dafsari, Jens Schallner, Dalia Abdin, Michael Seifert, Florence Petit, Thomas Smol, Levinus A. Bok, Lance H. Rodan, Ingrid P.C. Krapels, Stephanie Spranger, Bernhard Weschke, Katherine Johnson, Volker Straub, Angela M. Kaindl, Nataliya Di Donato, Maja von der Hagen, Sebahattin Çırak

    Vydáno 2020
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  7. 7
    Genomic variant profiling in blast‐phase paediatric chronic myeloid leukaemia: Predisposing and driving alterations

    Genomic variant profiling in blast‐phase paediatric chronic myeloid leukaemia: Predisposing and driving alterations Autor Yvonne Lisa Behrens, Thea Reinkens, Winfried Hofmann, Amelie Gumann, Alisa Förster, Laura Gaschler, Tabita Ghete, Renate Strasser, Jennifer Espenkötter, Bernd Haermeyer, Michaela Losch, Stephanie Sembill, Zofia Wotschofsky, Stephan von Hörsten, Wolfgang Schuh, Nataliya Di Donato, Meinolf Suttorp, Manuela Krumbholz, Tim Ripperger, Brigitte Schlegelberger, Gudrun Göhring, Markus Metzler, Axel Karow

    Vydáno 2025
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  8. 8
    Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly

    Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly Autor Nataliya Di Donato, Andrew E. Timms, Kimberly A. Aldinger, Ghayda Mirzaa, James T. Bennett, Sarah Collins, Carissa Olds, Davide Mei, Sara Chiari, Gemma L. Carvill, Candace T. Myers, Jean‐Baptiste Rivière, Maha S. Zaki, Joseph G. Gleeson, Andreas Rump, Valerio Conti, Elena Parrini, M. Elizabeth Ross, David H. Ledbetter, Renzo Guerrini, William B. Dobyns

    Vydáno 2018
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  9. 9
    Prognostic impact of clonal representation of myelodysplasia-related gene mutations in acute myeloid leukemia

    Prognostic impact of clonal representation of myelodysplasia-related gene mutations in acute myeloid leukemia Autor Rabea Mecklenbrauck, Nora Borchert, Razif Gabdoulline, P Poll, Carolin Funke, Maximilian Brandes, Louisa-Kristin Dallmann, Walter Fiedler, Jürgen Krauter, Arne Trummer, Bernd Hertenstein, Martin Müller, Michael Lübbert, Monika Schwalenberg, Andreas Voß, Nataliya Di Donato, Anke K. Bergmann, Verena Gaidzik, Konstanze Döhner, Hartmut Döhner, Arnold Ganser, Florian H. Heidel, Felicitas Thol, Michael Heuser

    Vydáno 2025
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  10. 10
    Heterozygous truncation mutations of the <i><scp>SMC</scp>1A</i> gene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new cases

    Heterozygous truncation mutations of the <i><scp>SMC</scp>1A</i> gene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new cases Autor Joseph D. Symonds, Shelagh Joss, Kay Metcalfe, Suresh Somarathi, Jamie Cruden, Anita Devlin, Alan Donaldson, Nataliya Di Donato, David Fitzpatrick, Frank J. Kaiser, Anne Katrin Lampe, Melissa Lees, Ailsa McLellan, Tara Montgomery, Vivek Mundada, Lesley Nairn, Ajoy Sarkar, Jens Schallner, Jelena Pozojevic, Ilaria Parenti, Jeen Tan, Peter D. Turnpenny, William Whitehouse, Sameer M. Zuberi

    Vydáno 2017
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  11. 11
    ERN GENTURIS clinical practice guidelines for the diagnosis, surveillance and management of people with Birt-Hogg-Dubé syndrome

    ERN GENTURIS clinical practice guidelines for the diagnosis, surveillance and management of people with Birt-Hogg-Dubé syndrome Autor Marianne Geilswijk, Maurizio Genuardi, Emma R. Woodward, Katie Nightingale, Jazzmin Huber, Mia Gebauer Madsen, Dieke Liekelema - van der Heij, Ian Lisseman, Jenny Marlé-Ballangé, Cormac McCarthy, Fred H. Menko, R. Jeroen A. van Moorselaar, Elżbieta Radzikowska, Richard J. Kahnoski, Neil Rajan, Mette Sommerlund, Maria Teodora Wetscherek, Nataliya Di Donato, Eamonn R. Maher, Joan Brunet

    Vydáno 2024
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  12. 12
    Next-generation sequencing in X-linked intellectual disability

    Next-generation sequencing in X-linked intellectual disability Autor Andreas Tzschach, Ute Grasshoff, Stefanie Beck‐Woedl, Claudia Dufke, Claudia Bauer, Martin Kehrer, Christina Evers, Ute Moog, Barbara Oehl‐Jaschkowitz, Nataliya Di Donato, Robert Maiwald, Christine Jung, Alma Kuechler, Solveig Schulz, Peter Meinecke, Stephanie Spranger, Jürgen Kohlhase, Jörg Seidel, Silke Reif, Manuela Rieger, Angelika Rieß, Marc Sturm, Julia Bickmann, Christopher Schroeder, Andreas Dufke, Olaf Rieß, Peter Bauer

    Vydáno 2015
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  13. 13
    Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia

    Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia Autor Sharissa L. Latham, Nadja Ehmke, P. Reinke, Manuel H. Taft, Dorothee Eicke, Theresia Reindl, Werner Stenzel, Michael J. Lyons, Michael J. Friez, Jennifer A. Lee, Ramona Hecker, Michael C. Frühwald, Kerstin Becker, Teresa Neuhann, Denise Horn, Evelin Schröck, Indra Niehaus, Katharina Sarnow, Konrad Grützmann, Luzie Gawehn, Barbara Klink, Andreas Rump, Christine Chaponnier, Constança Figueiredo, Ralf Knöfler, Dietmar J. Manstein, Nataliya Di Donato

    Vydáno 2018
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  14. 14
    International consensus recommendations on the diagnostic work-up for malformations of cortical development

    International consensus recommendations on the diagnostic work-up for malformations of cortical development Autor Renske Oegema, Tahsin Stefan Barakat, Martina Wilke, Katrien Stouffs, Dina Amrom, Eleonora Aronica, Nadia Bahi‐Buisson, Valerio Conti, Andrew E. Fry, Tobias Geis, David Gómez‐Andrés, Elena Parrini, Ivana Pogledić, Edith Said, Doriette Soler, Luis M. Valor, Maha S. Zaki, Ghayda Mirzaa, William B. Dobyns, Orly Reiner, Renzo Guerrini, Daniela T. Pilz, Ute Hehr, Richard J. Leventer, Anna Jansen, Grazia M.S. Mancini, Nataliya Di Donato

    Vydáno 2020
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  15. 15
    Biallelic UBE4A loss-of-function variants cause intellectual disability and global developmental delay

    Biallelic UBE4A loss-of-function variants cause intellectual disability and global developmental delay Autor Uirá Souto Melo, Devon Bonner, K. C. Kent Lloyd, Ala Moshiri, Brandon Willis, Louise Lanoue, Lynette Bower, Brian C. Leonard, Davi Jardim Martins, Fernando Gomes, Felipe de Souza Leite, Danyllo Oliveira, João Paulo Kitajima, Fabíola Paoli Monteiro, Mayana Zatz, Carlos Frederico Martins Menck, Matthew T. Wheeler, Jonathan A. Bernstein, Kevin Dumas, Elizabeth Spiteri, Nataliya Di Donato, Arne Jahn, Mais Hashem, Hessa S. Alsaif, Aziza Chedrawi, Fowzan S. Alkuraya, Fernando Kok, Heather M. Byers

    Vydáno 2021
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  16. 16
    Combined <scp>NGS</scp> Approaches Identify Mutations in the Intraflagellar Transport Gene <i>IFT140</i> in Skeletal Ciliopathies with Early Progressive Kidney Disease

    Combined <scp>NGS</scp> Approaches Identify Mutations in the Intraflagellar Transport Gene <i>IFT140</i> in Skeletal Ciliopathies with Early Progressive Kidney Disease Autor Miriam Schmidts, Valeska Frank, Tobias Eisenberger, Saeed Al Turki, Albane A. Bizet, Dinu Antony, Suzanne Rix, Christian Decker, Nadine Bachmann, Martin Bald, Tobias Vinke, Burkhard Toenshoff, Nataliya Di Donato, Theresa Neuhann, Jane Hartley, Eamonn R. Maher, Radovan Bogdanović, Amira Peco‐Antić, Christoph J. Mache, Matthew E. Hurles, Ivana Joksić, Marija Guć‐Šćekić, Jelena Dobričić, Mirjana Branković-Magić, Hanno J. Bolz, Gregory J. Pazour, Philip L. Beales, Peter Scambler, Sophie Saunier, Hannah M. Mitchison, Carsten Bergmann

    Vydáno 2013
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  17. 17
    Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant

    Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant Autor Nataliya Di Donato, Ying Y. Jean, A. Murat Maga, Briana D. Krewson, Alison B. Shupp, Maria I. Avrutsky, Achira Roy, Sarah Collins, Carissa Olds, Rebecca A. Willert, Agnieszka M. Czaja, Rachel M. Johnson, Jessi A. Stover, Steven M. Gottlieb, Deborah Bartholdi, Anita Rauch, Amy Goldstein, Victoria Boyd-Kyle, Kimberly A. Aldinger, Ghayda Mirzaa, Anke M. Nissen, Karlla W. Brigatti, Erik G. Puffenberger, Kathleen J. Millen, Kevin A. Strauss, William B. Dobyns, Carol M. Troy, Robert N. Jinks

    Vydáno 2016
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  18. 18
    De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies

    De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies Autor Konrad Platzer, Heinrich Sticht, Stacey L. Edwards, William Allen, Kaitlin M. Angione, Maria Teresa Bonati, Campbell K. Brasington, Megan T. Cho, Laurie Demmer, Tzipora C. Falik‐Zaccai, Candace Gamble, Yorck Hellenbroich, Maria Iascone, Fernando Kok, Sonal Mahida, Hanna Mandel, Thorsten Marquardt, Kirsty McWalter, Bianca Panis, Alexander Pepler, Hailey Pinz, Luiza Ramos, Deepali N. Shinde, Constance Smith‐Hicks, Alexander P.A. Stegmann, Petra Stöbe, Constance T. R. M. Stumpel, Carolyn M. Wilson, Johannes R. Lemke, Nataliya Di Donato, Kenneth G. Miller, Rami Abou Jamra

    Vydáno 2019
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  19. 19
    Mutation Update for Kabuki Syndrome Genes<i>KMT2D</i>and<i>KDM6A</i>and Further Delineation of X-Linked Kabuki Syndrome Subtype 2

    Mutation Update for Kabuki Syndrome Genes<i>KMT2D</i>and<i>KDM6A</i>and Further Delineation of X-Linked Kabuki Syndrome Subtype 2 Autor Nina Bögershausen, Vincent Gâtinois, Vera Riehmer, Hülya Kayserili, Jutta Becker, Michaela Thoenes, Pelin Özlem Şimşek‐Kiper, Mouna Barat‐Houari, Nursel Elçioğlu, Dagmar Wieczorek, Sigrid Tinschert, Guillaume Sarrabay, Tim M. Strom, Aurélie Fabre, Gareth Baynam, Elodie Sanchez, Gudrun Nürnberg, Umut Altunoğlu, Yline Capri, Bertrand Isidor, Didier Lacombe, Carole Corsini, Valérie Cormier‐Daire, Damien Sanlaville, Fabienne Giuliano, Kim‐Hanh Le Quan Sang, Honorine Kayirangwa, Peter Nürnberg, Thomas Meitinger, Koray Boduroğlu, Barbara Zoll, Stanislas Lyonnet, Andreas Tzschach, Alain Verloès, Nataliya Di Donato, Isabelle Touitou, Christian Netzer, Yun Li, David Geneviève, Gökhan Yigit, Bernd Wollnik

    Vydáno 2016
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  20. 20
    HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle

    HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle Autor Matthew A. Deardorff, Masashige Bando, Ryuichiro Nakato, Erwan Watrin, Takehiko Itoh, Masashi Minamino, Katsuya Saitoh, Makiko Komata, Yuki Katou, Dinah Clark, Kathryn Cole, Elfride De Baere, Christophe Decroos, Nataliya Di Donato, Sarah Ernst, Lauren J. Francey, Yolanda Gyftodimou, Kyotaro Hirashima, Melanie Hullings, Yuuichi Ishikawa, Christian Jaulin, Maninder Kaur, Tohru Kiyono, Patrick M. Lombardi, Laura Magnaghi-Jaulin, Geert Mortier, Naohito Nozaki, Michael B. Petersen, Hiroyuki Seimiya, Victoria Mok Siu, Yutaka Suzuki, Kentaro Takagaki, Jonathan J. Wilde, Patrick J. Willems, Claude Prigent, Gabriele Gillessen‐Kaesbach, D.W. Christianson, Frank J. Kaiser, Laird G. Jackson, Toru Hirota, Ian D. Krantz, Katsuhiko Shirahige

    Vydáno 2012
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