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17 results for Kortüm,+Fanny

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Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome
Author / Creator:Kortüm, Fanny ; Caputo, Viviana ; Bauer, Christiane K ; Stella, Lorenzo ; Ciolfi, Andrea ; Alawi, Malik ; Bocchinfuso, Gianfranco ; Flex, Elisabetta ; Paolacci, Stefano ; Dentici, Maria Lisa ; Grammatico, Paola ; Korenke, Georg Christoph ; Leuzzi, Vincenzo ; Mowat, David ; Nair, Lal D V ; Nguyen, Thi Tuyet Mai ; Thierry, Patrick ; White, Susan M ; Dallapiccola, Bruno ; Pizzuti, Antonio ; Campeau, Philippe M ; Tartaglia, Marco ; Kutsche, Kerstin
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2015-06, Vol.47 (6), p.661-667
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Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes
Author / Creator: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
Publisher:New York: Nature Publishing Group
Journal title:Nature genetics, 2010-11, Vol.42 (11), p.1021-6
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Clinically relevant variants in a large cohort of Indian patients with Marfan syndrome and related disorders identified by next-generation sequencing
Author / Creator:Nayak, Shalini S. ; Schneeberger, Pauline E. ; Patil, Siddaramappa J. ; Arun, Karegowda M. ; Suresh, Pujar V. ; Kiran, Viralam S. ; Siddaiah, Sateesh ; Maiya, Shreesha ; Venkatachalagupta, Shrikanth K. ; Kausthubham, Neethukrishna ; Kortüm, Fanny ; Rau, Isabella ; Wey-Fabrizius, Alexandra ; Van Den Heuvel, Lotte ; Meester, Josephina ; Van Laer, Lut ; Shukla, Anju ; Loeys, Bart ; Girisha, Katta M. ; Kutsche, Kerstin
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2021-01, Vol.11 (1), p.764-764, Article 764
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Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis
Author / Creator:Knaus, Alexej ; Pantel, Jean Tori ; Pendziwiat, Manuela ; Hajjir, Nurulhuda ; Zhao, Max ; Hsieh, Tzung-Chien ; Schubach, Max ; Gurovich, Yaron ; Fleischer, Nicole ; Jäger, Marten ; Köhler, Sebastian ; Muhle, Hiltrud ; Korff, Christian ; Møller, Rikke S. ; Bayat, Allan ; Calvas, Patrick ; Chassaing, Nicolas ; Warren, Hannah ; Skinner, Steven ; Louie, Raymond ; Evers, Christina ; Bohn, Marc ; Christen, Hans-Jürgen ; van den Born, Myrthe ; Obersztyn, Ewa ; Charzewska, Agnieszka ; Endziniene, Milda ; Kortüm, Fanny ; Brown, Natasha ; Robinson, Peter N. ; Schelhaas, Helenius J. ; Weber, Yvonne ; Helbig, Ingo ; Mundlos, Stefan ; Horn, Denise ; Krawitz, Peter M.
Publisher:England: BioMed Central Ltd
Journal title:Genome medicine, 2018-01, Vol.10 (1), p.3-3, Article 3
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Whole-Exome Sequencing in Critically Ill Neonates and Infants: Diagnostic Yield and Predictability of Monogenic Diagnosis
Author / Creator:Scholz, Tasja ; Blohm, Martin Ernst ; Kortüm, Fanny ; Bierhals, Tatjana ; Lessel, Davor ; van der Ven, Amelie T. ; Lisfeld, Jasmin ; Herget, Theresia ; Kloth, Katja ; Singer, Dominique ; Perez, Anna ; Obi, Nadia ; Johannsen, Jessika ; Denecke, Jonas ; Santer, René ; Kubisch, Christian ; Deindl, Philipp ; Hempel, Maja
Publisher:Basel, Switzerland: S. Karger AG
Journal title:Neonatology (Basel, Switzerland), 2021-08, Vol.118 (4), p.454-461
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The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis
Author / Creator:Kortüm, Fanny ; Das, Soma ; Flindt, Max ; Morris-Rosendahl, Deborah J ; Stefanova, Irina ; Goldstein, Amy ; Horn, Denise ; Klopocki, Eva ; Kluger, Gerhard ; Martin, Peter ; Rauch, Anita ; Roumer, Agathe ; Saitta, Sulagna ; Walsh, Laurence E ; Wieczorek, Dagmar ; Uyanik, Gökhan ; Kutsche, Kerstin ; Dobyns, William B
Publisher:London: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2011-06, Vol.48 (6), p.396-406
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Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9
Author / Creator:Kortüm, Fanny ; Jamra, Rami Abou ; Alawi, Malik ; Berry, Susan A. ; Borck, Guntram ; Helbig, Katherine L. ; Tang, Sha ; Huhle, Dagmar ; Korenke, Georg Christoph ; Hebbar, Malavika ; Shukla, Anju ; Girisha, Katta M. ; Steinlin, Maja ; Waldmeier-Wilhelm, Sandra ; Montomoli, Martino ; Guerrini, Renzo ; Lemke, Johannes R. ; Kutsche, Kerstin
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2018-05, Vol.26 (5), p.695-708
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Phenotypic spectrum associated with CASK loss-of-function mutations
Author / Creator:Moog, Ute ; Kutsche, Kerstin ; Kortüm, Fanny ; Chilian, Bettina ; Bierhals, Tatjana ; Apeshiotis, Neophytos ; Balg, Stefanie ; Chassaing, Nicolas ; Coubes, Christine ; Das, Soma ; Engels, Hartmut ; Van Esch, Hilde ; Grasshoff, Ute ; Heise, Marisol ; Isidor, Bertrand ; Jarvis, Joanna ; Koehler, Udo ; Martin, Thomas ; Oehl-Jaschkowitz, Barbara ; Ortibus, Els ; Pilz, Daniela T ; Prabhakar, Prab ; Rappold, Gudrun ; Rau, Isabella ; Rettenberger, Günther ; Schlüter, Gregor ; Scott, Richard H ; Shoukier, Moonef ; Wohlleber, Eva ; Zirn, Birgit ; Dobyns, William B ; Uyanik, Gökhan
Publisher:London: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2011-11, Vol.48 (11), p.741-751
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αPIX Is a Trafficking Regulator that Balances Recycling and Degradation of the Epidermal Growth Factor Receptor
Author / Creator:Kortüm, Fanny ; Harms, Frederike Leonie ; Hennighausen, Natascha ; Rosenberger, Georg
Publisher:United States: Public Library of Science
Journal title:PloS one, 2015-07, Vol.10 (7), p.e0132737-e0132737
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An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome
Author / Creator:Abdollahpour, Hengameh ; Alawi, Malik ; Kortüm, Fanny ; Beckstette, Michael ; Seemanova, Eva ; Komárek, Vladimír ; Rosenberger, Georg ; Kutsche, Kerstin
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2015-02, Vol.23 (2), p.256-259
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PIX Is a Trafficking Regulator that Balances Recycling and Degradation of the Epidermal Growth Factor Receptor
Author / Creator:Kortüm, Fanny ; Harms, Frederike Leonie ; Hennighausen, Natascha ; Rosenberger, Georg
Publisher:Public Library of Science
Journal title:PloS one, 2015-07, Vol.10 (7)
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A novel multiple joint dislocation syndrome associated with a homozygous nonsense variant in the EXOC6B gene
Author / Creator:Girisha, Katta Mohan ; Kortüm, Fanny ; Shah, Hitesh ; Alawi, Malik ; Dalal, Ashwin ; Bhavani, Gandham SriLakshmi ; Kutsche, Kerstin
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2016-08, Vol.24 (8), p.1206-1210
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The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant
Author / Creator:Aerden, Mio ; Denommé-Pichon, Anne-Sophie ; Bonneau, Dominique ; Bruel, Ange-Line ; Delanne, Julian ; Gérard, Bénédicte ; Mazel, Benoît ; Philippe, Christophe ; Pinson, Lucile ; Prouteau, Clément ; Putoux, Audrey ; Tran Mau-Them, Frédéric ; Viora-Dupont, Éléonore ; Vitobello, Antonio ; Ziegler, Alban ; Piton, Amélie ; Isidor, Bertrand ; Francannet, Christine ; Maillard, Pierre-Yves ; Julia, Sophie ; Philippe, Anais ; Schaefer, Elise ; Koene, Saskia ; Ruivenkamp, Claudia ; Hoffer, Mariette ; Legius, Eric ; Theunis, Miel ; Keren, Boris ; Buratti, Julien ; Charles, Perrine ; Courtin, Thomas ; Misra-Isrie, Mala ; van Haelst, Mieke ; Waisfisz, Quinten ; Wieczorek, Dagmar ; Schmetz, Ariane ; Herget, Theresia ; Kortüm, Fanny ; Lisfeld, Jasmin ; Debray, François-Guillaume ; Bramswig, Nuria C. ; Atallah, Isis ; Fodstad, Heidi ; Jouret, Guillaume ; Almoguera, Berta ; Tahsin-Swafiri, Saoud ; Santos-Simarro, Fernando ; Palomares-Bralo, Maria ; López-González, Vanesa ; Kibaek, Maria ; Tørring, Pernille M. ; Renieri, Alessandra ; Bruno, Lucia Pia ; Õunap, Katrin ; Wojcik, Monica ; Hsieh, Tzung-Chien ; Krawitz, Peter ; Van Esch, Hilde
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2023-04, Vol.31 (4), p.461-468
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A novel missense variant in the SDR domain of the WWOX gene leads to complete loss of WWOX protein with early-onset epileptic encephalopathy and severe developmental delay
Author / Creator:Johannsen, Jessika ; Kortüm, Fanny ; Rosenberger, Georg ; Bokelmann, Kristin ; Schirmer, Markus A. ; Denecke, Jonas ; Santer, René
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Neurogenetics, 2018-08, Vol.19 (3), p.151-156
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Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability
Author / Creator:Verheije, Rosalind ; Kupchik, Gabriel S. ; Isidor, Bertrand ; Kroes, Hester Y. ; Lynch, Sally Ann ; Hawkes, Lara ; Hempel, Maja ; Gelb, Bruce D. ; Ghoumid, Jamal ; D’Amours, Guylaine ; Chandler, Kate ; Dubourg, Christèle ; Loddo, Sara ; Tümer, Zeynep ; Shaw-Smith, Charles ; Nizon, Mathilde ; Shevell, Michael ; Van Hoof, Evelien ; Anyane-Yeboa, Kwame ; Cerbone, Gaetana ; Clayton-Smith, Jill ; Cogné, Benjamin ; Corre, Pierre ; Corveleyn, Anniek ; De Borre, Marie ; Hjortshøj, Tina Duelund ; Fradin, Mélanie ; Gewillig, Marc ; Goldmuntz, Elizabeth ; Hens, Greet ; Lemyre, Emmanuelle ; Journel, Hubert ; Kini, Usha ; Kortüm, Fanny ; Le Caignec, Cedric ; Novelli, Antonio ; Odent, Sylvie ; Petit, Florence ; Revah-Politi, Anya ; Stong, Nicholas ; Strom, Tim M. ; van Binsbergen, Ellen ; Devriendt, Koenraad ; Breckpot, Jeroen
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2019-02, Vol.27 (2), p.278-290
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Genotype–Phenotype Correlation in Children: The Impact of FBN1 Variants on Pediatric Marfan Care
Author / Creator:Stark, Veronika C. ; Hensen, Flemming ; Kutsche, Kerstin ; Kortüm, Fanny ; Olfe, Jakob ; Wiegand, Peter ; von Kodolitsch, Yskert ; Kozlik-Feldmann, Rainer ; Müller, Götz C. ; Mir, Thomas S.
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2020-07, Vol.11 (7), p.799
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Mutations in EBF3 disturb transcriptional profiles and underlie a novel syndrome of intellectual disability, ataxia and facial dysmorphism
Author / Creator:Harms, Frederike Leonie ; Katta Mohan Girisha ; Hardigan, Andrew Alexander ; Kortum, Fanny ; Shukla, Anju ; Malik Alawi ; Dalal, Ashwin ; Brady, Lauren ; Tarnopolsky, Mark ; Bird, Lynne M ; Ceulemans, Sophia ; Bebin, Martina ; Bowling, Kevin M ; Hiatt, Susan M ; Lose, Edward J ; Primiano, Michelle ; Chung, Wendy K ; Juusola, Jane ; Akdemir, Zeynep C ; Bainbridge, Matthew ; Wu-Lin, Charng ; Drummond-Borg, Margaret ; Eldomery, Mohammad K ; El-Hattab, Ayman W ; Mohammed Am Saleh ; Bezieau, Stephane ; Cogne, Benjamin ; Bertrand Isidor ; Kury, Sebastien ; Lupski, James R ; Myers, Richard M ; Cooper, Gregory M ; Kutsche, Kerstin
Publisher:Cold Spring Harbor: Cold Spring Harbor Laboratory Press
Journal title:bioRxiv, 2016-08
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Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome

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Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes

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Clinically relevant variants in a large cohort of Indian patients with Marfan syndrome and related disorders identified by next-generation sequencing

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Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis

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Whole-Exome Sequencing in Critically Ill Neonates and Infants: Diagnostic Yield and Predictability of Monogenic Diagnosis

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The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis

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Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9

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Phenotypic spectrum associated with CASK loss-of-function mutations

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αPIX Is a Trafficking Regulator that Balances Recycling and Degradation of the Epidermal Growth Factor Receptor

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An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome

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PIX Is a Trafficking Regulator that Balances Recycling and Degradation of the Epidermal Growth Factor Receptor

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A novel multiple joint dislocation syndrome associated with a homozygous nonsense variant in the EXOC6B gene

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The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant

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A novel missense variant in the SDR domain of the WWOX gene leads to complete loss of WWOX protein with early-onset epileptic encephalopathy and severe developmental delay

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Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability

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Genotype–Phenotype Correlation in Children: The Impact of FBN1 Variants on Pediatric Marfan Care

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Mutations in EBF3 disturb transcriptional profiles and underlie a novel syndrome of intellectual disability, ataxia and facial dysmorphism

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