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Mutations in the Pericentrin (PCNT) Gene Cause Primordial Dwarfism
Author / Creator:Rauch, Anita ; Thiel, Christian T ; Schindler, Detlev ; Wick, Ursula ; Crow, Yanick J ; Ekici, Arif B ; van Essen, Anthonie J ; Goecke, Timm O ; Al-Gazali, Lihadh ; Chrzanowska, Krystyna H ; Zweier, Christiane ; Brunner, Han G ; Becker, Kristin ; Curry, Cynthia J ; Dallapiccola, Bruno ; Devriendt, Koenraad ; Dörfler, Arnd ; Kinning, Esther ; Megarbane, André ; Meinecke, Peter ; Semple, Robert K ; Spranger, Stephanie ; Toutain, Annick ; Trembath, Richard C ; Voss, Egbert ; Wilson, Louise ; Hennekam, Raoul ; de Zegher, Francis ; Dörr, Helmuth-Günther ; Reis, André
Publisher:Washington, DC: American Association for the Advancement of Science
Journal title:Science (American Association for the Advancement of Science), 2008-02, Vol.319 (5864), p.816-819
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The clinical-phenotype continuum in DYNC1H1-related disorders—genomic profiling and proposal for a novel classification
Author / Creator:Becker Lena-Luise ; Salimi, Dafsari Hormos ; Schallner Jens ; Abdin Dalia ; Seifert, Michael ; Petit, Florence ; Smol, Thomas ; Bok Levinus ; Rodan Lance ; Krapels Ingrid ; Spranger, Stephanie ; Weschke Bernhard ; Johnson, Katherine ; Straub Volker ; Kaindl, Angela M ; Di Donato Nataliya ; von der Hagen Maja ; Cirak Sebahattin
Publisher:London: Nature Publishing Group
Journal title:Journal of human genetics, 2020-11, Vol.65 (11), p.1003-1017
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Genotype and phenotype spectrum of NRAS germline variants
Author / Creator:Altmüller, Franziska ; Lissewski, Christina ; Bertola, Debora ; Flex, Elisabetta ; Stark, Zornitza ; Spranger, Stephanie ; Baynam, Gareth ; Buscarilli, Michelle ; Dyack, Sarah ; Gillis, Jane ; Yntema, Helger G ; Pantaleoni, Francesca ; van Loon, Rosa LE ; MacKay, Sara ; Mina, Kym ; Schanze, Ina ; Tan, Tiong Yang ; Walsh, Maie ; White, Susan M ; Niewisch, Marena R ; García-Miñaúr, Sixto ; Plaza, Diego ; Ahmadian, Mohammad Reza ; Cavé, Hélène ; Tartaglia, Marco ; Zenker, Martin
Journal title:European journal of human genetics : EJHG, 2017-05, Vol.25 (7), p.823-831
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Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis
Author / Creator:Ruiz-Perez, Victor L. ; Ide, Susan E. ; Strom, Tim M. ; Lorenz, Bettina ; Wilson, David ; Woods, Kathryn ; King, Lynn ; Francomano, Clair ; Freisinger, Peter ; Spranger, Stephanie ; Marino, Bruno ; Dallapiccola, Bruno ; Wright, Michael ; Meitinger, Thomas ; Polymeropoulos, Mihael H. ; Goodship, Judith
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2000-03, Vol.24 (3), p.283-286
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Phenotypic variation and genetic heterogeneity in Léri-Weill syndrome
Author / Creator:Schiller, Simone ; Spranger, Stephanie ; Schechinger, Birgit ; Fukami, Maki ; Merker, Sabine ; Drop, Stenvert LS ; Tröger, Jochen ; Knoblauch, Hans ; Kunze, Jürgen ; Seidel, Jörg ; Rappold, Gudrun A
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2000-01, Vol.8 (1), p.54-62
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Expanding the spectrum ofTBX5 mutations in Holt-Oram syndrome: detection of two intragenic deletions by quantitative real time PCR, and report of eight novel point mutations
Author / Creator:Borozdin, Wiktor ; Bravo Ferrer Acosta, Ana M. ; Bamshad, Michael J. ; Botzenhart, Elke M. ; Froster, Ursula G. ; Lemke, Johannes ; Schinzel, Albert ; Spranger, Stephanie ; McGaughran, Julie ; Wand, Dorothea ; Chrzanowska, Krystyna H. ; Kohlhase, Jürgen
Journal title:Human mutation, 2006-09, Vol.27 (9), p.975-976
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Bi-allelic loss-of-function variants in KIF21A cause severe fetal akinesia with arthrogryposis multiplex
Author / Creator:Falb, Ruth J ; Müller, Amelie J ; Klein, Wolfram ; Grimmel, Mona ; Grasshoff, Ute ; Spranger, Stephanie ; Stöbe, Petra ; Gauck, Darja ; Kuechler, Alma ; Dikow, Nicola ; Schwaibold, Eva M C ; Schmidt, Christoph ; Averdunk, Luisa ; Buchert, Rebecca ; Heinrich, Tilman ; Prodan, Natalia ; Park, Joohyun ; Kehrer, Martin ; Sturm, Marc ; Kelemen, Olga ; Hartmann, Silke ; Horn, Denise ; Emmerich, Dirk ; Hirt, Nina ; Neumann, Armin ; Kristiansen, Glen ; Gembruch, Ulrich ; Haen, Susanne ; Siebert, Reiner ; Hentze, Sabine ; Hoopmann, Markus ; Ossowski, Stephan ; Waldmüller, Stephan ; Beck-Wödl, Stefanie ; Gläser, Dieter ; Tekesin, Ismail ; Distelmaier, Felix ; Riess, Olaf ; Kagan, Karl-Oliver ; Dufke, Andreas ; Haack, Tobias B
Publisher:England: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2023-01, Vol.60 (1), p.48-56
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Next-generation sequencing in X-linked intellectual disability
Author / Creator:Tzschach, Andreas ; Grasshoff, Ute ; Beck-Woedl, Stefanie ; Dufke, Claudia ; Bauer, Claudia ; Kehrer, Martin ; Evers, Christina ; Moog, Ute ; Oehl-Jaschkowitz, Barbara ; Di Donato, Nataliya ; Maiwald, Robert ; Jung, Christine ; Kuechler, Alma ; Schulz, Solveig ; Meinecke, Peter ; Spranger, Stephanie ; Kohlhase, Jürgen ; Seidel, Jörg ; Reif, Silke ; Rieger, Manuela ; Riess, Angelika ; Sturm, Marc ; Bickmann, Julia ; Schroeder, Christopher ; Dufke, Andreas ; Riess, Olaf ; Bauer, Peter
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2015-11, Vol.23 (11), p.1513-1518
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Novel Variants of ISOX4/I in Patients with Intellectual Disability
Author / Creator:Grosse, Ma ; Kuechler, Alma ; Dabir, Tabib ; Spranger, Stephanie ; Beck-Wödl, Stefanie ; Bertrand, Miriam ; Haack, Tobias B ; Grasemann, Corinna ; Manka, Eva ; Depienne, Christel ; Kaiser, Frank J
Publisher:MDPI AG
Journal title:International journal of molecular sciences, 2023-02, Vol.24 (4)
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Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation
Author / Creator:Kouz, Karim ; Lissewski, Christina ; Spranger, Stephanie ; Mitter, Diana ; Riess, Angelika ; Lopez-Gonzalez, Vanesa ; Lüttgen, Sabine ; Aydin, Hatip ; von Deimling, Florian ; Evers, Christina ; Hahn, Andreas ; Hempel, Maja ; Issa, Ulrike ; Kahlert, Anne-Karin ; Lieb, Adrian ; Villavicencio-Lorini, Pablo ; Ballesta-Martinez, Maria Juliana ; Nampoothiri, Sheela ; Ovens-Raeder, Angela ; Puchmajerová, Alena ; Satanovskij, Robin ; Seidel, Heide ; Unkelbach, Stephan ; Zabel, Bernhard ; Kutsche, Kerstin ; Zenker, Martin
Publisher:New York: Elsevier Inc
Journal title:Genetics in medicine, 2016-12, Vol.18 (12), p.1226-1234
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Novel Variants of SOX4 in Patients with Intellectual Disability
Author / Creator:Grosse, Martin ; Kuechler, Alma ; Dabir, Tabib ; Spranger, Stephanie ; Beck-Wödl, Stefanie ; Bertrand, Miriam ; Haack, Tobias B. ; Grasemann, Corinna ; Manka, Eva ; Depienne, Christel ; Kaiser, Frank J.
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2023-02, Vol.24 (4), p.3519
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47 patients with FLNA associated periventricular nodular heterotopia
Author / Creator:Lange, Max ; Kasper, Burkhard ; Bohring, Axel ; Rutsch, Frank ; Kluger, Gerhard ; Hoffjan, Sabine ; Spranger, Stephanie ; Behnecke, Anne ; Ferbert, Andreas ; Hahn, Andreas ; Oehl-Jaschkowitz, Barbara ; Graul-Neumann, Luitgard ; Diepold, Katharina ; Schreyer, Isolde ; Bernhard, Matthias K. ; Mueller, Franziska ; Siebers-Renelt, Ulrike ; Beleza-Meireles, Ana ; Uyanik, Goekhan ; Janssens, Sandra ; Boltshauser, Eugen ; Winkler, Juergen ; Schuierer, Gerhard ; Hehr, Ute
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2015-10, Vol.10 (1), p.134-134, Article 134
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Genotype and phenotype spectrum of NRAS germline variants
Author / Creator:Altmüller, Franziska ; Lissewski, Christina ; Bertola, Debora ; Flex, Elisabetta ; Stark, Zornitza ; Spranger, Stephanie ; Baynam, Gareth ; Buscarilli, Michelle ; Dyack, Sarah ; Gillis, Jane ; Yntema, Helger G ; Pantaleoni, Francesca ; van Loon, Rosa LE ; MacKay, Sara ; Mina, Kym ; Schanze, Ina ; Tan, Tiong Yang ; Walsh, Maie ; White, Susan M ; Niewisch, Marena R ; García-Miñaúr, Sixto ; Plaza, Diego ; Ahmadian, Mohammad Reza ; Cavé, Hélène ; Tartaglia, Marco ; Zenker, Martin
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2017-06, Vol.25 (7), p.823-831
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Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation
Author / Creator:Altug Teber, Özge ; Gillessen-Kaesbach, Gabriele ; Fischer, Sven ; Böhringer, Stefan ; Albrecht, Beate ; Albert, Angelika ; Arslan-Kirchner, Mine ; Haan, Eric ; Hagedorn-Greiwe, Monika ; Hammans, Christof ; Henn, Wolfram ; Hinkel, Georg Klaus ; König, Rainer ; Kunstmann, Erdmute ; Kunze, Jürgen ; Neumann, Luitgard M ; Prott, Eva-Christina ; Rauch, Anita ; Rott, Hans-Dieter ; Seidel, Heide ; Spranger, Stephanie ; Sprengel, Martin ; Zoll, Barbara ; Lohmann, Dietmar R ; Wieczorek, Dagmar
Publisher:Cham: Springer International Publishing
Journal title:European journal of human genetics : EJHG, 2004-11, Vol.12 (11), p.879-890
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Expanding the spectrum of TBX5 mutations in Holt-Oram syndrome: detection of two intragenic deletions by quantitative real time PCR, and report of eight novel point mutations
Author / Creator:Borozdin, Wiktor ; Bravo Ferrer Acosta, Ana M. ; Bamshad, Michael J. ; Botzenhart, Elke M. ; Froster, Ursula G. ; Lemke, Johannes ; Schinzel, Albert ; Spranger, Stephanie ; McGaughran, Julie ; Wand, Dorothea ; Chrzanowska, Krystyna H. ; Kohlhase, Jürgen
Publisher:Hoboken: Wiley Subscription Services, Inc., A Wiley Company
Journal title:Human mutation, 2006-09, Vol.27 (9), p.975-976
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Ehlers-Danlos Syndrome Type VII: Clinical Features and Molecular Defects
Author / Creator:GIUNTA, CECILIA ; SUPERTI-FURGA, ANDREA ; SPRANGER, STEPHANIE ; COLE, WILLIAM G. ; STEINMANN, BEAT
Publisher:Boston, MA: Copyright by The Journal of Bone and Joint Surgery, Incorporated
Journal title:Journal of bone and joint surgery. American volume, 1999-02, Vol.81 (2), p.225-238
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The mutation spectrum in Holt-Oram syndrome
Author / Creator:CROSS, STEPHEN J ; CHING, YUNG-HAO ; LI, QUAN YI ; ARMSTRONG-BUISSERET, LINDSAY ; SPRANGER, STEPHANIE ; LYONNET, STANISLAW ; BONNET, DAMIEN ; PENTTINEN, MAILA ; JONVEAUX, PHILIPPE ; LEHEUP, BRUNO ; MORTIER, GEERT ; VAN RAVENSWAAIJ, CONNY ; GARDINER, CAROL-ANNE ; BROOK, J DAVID ; NEWBURY-ECOB, RUTH
Publisher:England: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2000-10, Vol.37 (10), p.785-787
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Muscular involvement in the Holt-Oram syndrome
Author / Creator:Spranger, S ; Ulmer, H ; Tröger, J ; Jansen, O ; Graf, J ; Meinck, H M ; Spranger, M
Publisher:London: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 1997-12, Vol.34 (12), p.978-981
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Proximal and distal spinal muscular atrophy in one family: molecular genetic studies provide further evidence for the non-allelic origin of both diseases
Author / Creator:Spranger, S ; Rudnik-Schöneborn, S ; Spranger, M ; Schächtele, M ; Zerres, K ; Wirth, B
Publisher:London: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 1997-04, Vol.34 (4), p.340-342
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Next-generation sequencing in X-linked intellectual disability
Author / Creator:Tzschach, Andreas ; Grasshoff, Ute ; Beck-Woedl, Stefanie ; Dufke, Claudia ; Bauer, Claudia ; Kehrer, Martin ; Evers, Christina ; Moog, Ute ; Oehl-Jaschkowitz, Barbara ; Di Donato, Nataliya ; Maiwald, Robert ; Jung, Christine ; Kuechler, Alma ; Schulz, Solveig ; Meinecke, Peter ; Spranger, Stephanie ; Kohlhase, Jürgen ; Seidel, Jörg ; Reif, Silke ; Rieger, Manuela ; Riess, Angelika ; Sturm, Marc ; Bickmann, Julia ; Schroeder, Christopher ; Dufke, Andreas ; Riess, Olaf ; Bauer, Peter
Journal title:European journal of human genetics : EJHG, 2015-02, Vol.23 (11), p.1513-1518
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Mutations in the Pericentrin (PCNT) Gene Cause Primordial Dwarfism

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

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Genotype and phenotype spectrum of NRAS germline variants

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Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis

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Phenotypic variation and genetic heterogeneity in Léri-Weill syndrome

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Expanding the spectrum ofTBX5 mutations in Holt-Oram syndrome: detection of two intragenic deletions by quantitative real time PCR, and report of eight novel point mutations

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Bi-allelic loss-of-function variants in KIF21A cause severe fetal akinesia with arthrogryposis multiplex

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Next-generation sequencing in X-linked intellectual disability

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Novel Variants of ISOX4/I in Patients with Intellectual Disability

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Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation

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Novel Variants of SOX4 in Patients with Intellectual Disability

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47 patients with FLNA associated periventricular nodular heterotopia

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Genotype and phenotype spectrum of NRAS germline variants

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Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation

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Expanding the spectrum of TBX5 mutations in Holt-Oram syndrome: detection of two intragenic deletions by quantitative real time PCR, and report of eight novel point mutations

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Ehlers-Danlos Syndrome Type VII: Clinical Features and Molecular Defects

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The mutation spectrum in Holt-Oram syndrome

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Muscular involvement in the Holt-Oram syndrome

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Proximal and distal spinal muscular atrophy in one family: molecular genetic studies provide further evidence for the non-allelic origin of both diseases

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Next-generation sequencing in X-linked intellectual disability

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