Resultados de búsqueda - Heiko Reutter

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  1. 1
    The Exstrophy-epispadias complex

    The Exstrophy-epispadias complex por Anne‐Karoline Ebert, Heiko Reutter, Michael Ludwig, Wolfgang Rösch

    Publicado 2009
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  2. 2
    Underlying genetic factors of the VATER/VACTERL association with special emphasis on the “Renal” phenotype

    Underlying genetic factors of the VATER/VACTERL association with special emphasis on the “Renal” phenotype por Heiko Reutter, Alina C. Hilger, Friedhelm Hildebrandt, Michael Ludwig

    Publicado 2016
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  3. 3
    The components of arginine and methylarginine metabolism are indicative of altered kidney function in intrauterine growth-restricted neonates

    The components of arginine and methylarginine metabolism are indicative of altered kidney function in intrauterine growth-restricted neonates por Lina Kleinebenne, Waldemar Röhrig, Fabian Ebach, Heiko Reutter, Alexander Pankraz, Katharina Monika Heuchel, Andreas Müller, Alina C. Hilger

    Publicado 2024
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  4. 4
    Oral health status in children with chronic kidney disease, kidney transplantation, and nephrotic syndrome: a cross-sectional study

    Oral health status in children with chronic kidney disease, kidney transplantation, and nephrotic syndrome: a cross-sectional study por Anna Beyer, Fabian Ebach, Heiko Reutter, Katja Sauerstein, Alina C. Hilger, Tobias Krickau, Anja Tzschoppe, Joachim Woelfe, Matthias Galiano, Jan Schaefer

    Publicado 2025
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  5. 5
    Infancy-Onset T1DM, Short Stature, and Severe Immunodysregulation in Two Siblings With a Homozygous LRBA Mutation

    Infancy-Onset T1DM, Short Stature, and Severe Immunodysregulation in Two Siblings With a Homozygous LRBA Mutation por Felix Schreiner, Michaela Plamper, Gesche Düeker, Stefan Schoenberger, Laura Gámez‐Díaz, Bodo Grimbacher, Alina C. Hilger, Bettina Gohlke, Heiko Reutter, Joachim Woelfle

    Publicado 2016
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  6. 6
    Clinical geneticists' views of VACTERL/VATER association

    Clinical geneticists' views of VACTERL/VATER association por Benjamin D. Solomon, Kelly Bear, Virginia Kimonis, Annelies de Klein, Daryl A. Scott, Charles Shaw‐Smith, Dick Tibboel, Heiko Reutter, Philip F. Giampietro

    Publicado 2012
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  7. 7
    Cantú Syndrome Resulting from Activating Mutation in the<i>KCNJ8</i>Gene

    Cantú Syndrome Resulting from Activating Mutation in the<i>KCNJ8</i>Gene por Paige Cooper, Heiko Reutter, Joachim Woelfle, Hartmut Engels, Dorothy K. Grange, Gijs van Haaften, Bregje W.M. van Bon, Alexander Hoischen, Colin G. Nichols

    Publicado 2014
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  8. 8
    Mild Recessive Mutations in Six Fraser Syndrome–Related Genes Cause Isolated Congenital Anomalies of the Kidney and Urinary Tract

    Mild Recessive Mutations in Six Fraser Syndrome–Related Genes Cause Isolated Congenital Anomalies of the Kidney and Urinary Tract por Stefan Kohl, Daw‐Yang Hwang, Gabriel C. Dworschak, Alina C. Hilger, Pawaree Saisawat, Asaf Vivante, Nataša Stajić, Radovan Bogdanović, Heiko Reutter, Elijah O. Kehinde, Velibor Tasić, Friedhelm Hildebrandt

    Publicado 2014
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  9. 9
    Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract

    Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract por Daw‐Yang Hwang, Gabriel C. Dworschak, Stefan Kohl, Pawaree Saisawat, Asaf Vivante, Alina C. Hilger, Heiko Reutter, Neveen A. Soliman, Radovan Bogdanović, Elijah O. Kehinde, Velibor Tasić, Friedhelm Hildebrandt

    Publicado 2014
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  10. 10
    An Approach to the Identification of Anomalies and Etiologies in Neonates with Identified or Suspected VACTERL (Vertebral Defects, Anal Atresia, Tracheo-Esophageal Fistula with Esophageal Atresia, Cardiac Anomalies, Renal Anomalies, and Limb Anomalies) Association

    An Approach to the Identification of Anomalies and Etiologies in Neonates with Identified or Suspected VACTERL (Vertebral Defects, Anal Atresia, Tracheo-Esophageal Fistula with Eso... por Benjamin D. Solomon, Linda A. Baker, Kelly Bear, Bridget Cunningham, Philip F. Giampietro, Colleen Hadigan, Donald W. Hadley, Steven J. Harrison, Marc A. Levitt, Nickie Niforatos, Scott M. Paul, Cathleen Raggio, Heiko Reutter, Nicole Warren‐Mora

    Publicado 2013
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  11. 11
    Epidemiological Survey of 214 Families With Bladder Exstrophy-Epispadias Complex

    Epidemiological Survey of 214 Families With Bladder Exstrophy-Epispadias Complex por Lisa Gambhir, Tobias Höller, Martín Müller, G. Schott, Hannes Vogt, B. Detlefsen, A. Ebert, Margit Fisch, Sylvie Beaudoın, Raimund Stein, Simeon A. Boyadjiev, John P. Gearhart, Wolfgang Rösch, Boris Utsch, Thomas M. Boemers, Heiko Reutter, Michael Ludwig

    Publicado 2008
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  12. 12
    Yunis-Varón Syndrome Is Caused by Mutations in FIG4, Encoding a Phosphoinositide Phosphatase

    Yunis-Varón Syndrome Is Caused by Mutations in FIG4, Encoding a Phosphoinositide Phosphatase por Philippe M. Campeau, Guy M. Lenk, James T. Lu, Yangjin Bae, Lindsay C. Burrage, Peter D. Turnpenny, Jorge Román Corona‐Rivera, Lucia Morandi, Marina Mora, Heiko Reutter, Anneke T. Vulto-van Silfhout, Laurence Faivre, Eric Haan, Richard A. Gibbs, Miriam H. Meisler, Brendan H. Lee

    Publicado 2013
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  13. 13
    Targeted Resequencing of 29 Candidate Genes and Mouse Expression Studies Implicate<i>ZIC3</i>and<i>FOXF1</i>in Human VATER/VACTERL Association

    Targeted Resequencing of 29 Candidate Genes and Mouse Expression Studies Implicate<i>ZIC3</i>and<i>FOXF1</i>in Human VATER/VACTERL Association por Alina C. Hilger, Jan Halbritter, Tracie Pennimpede, Amelie van der Ven, Georgia Sarma, Daniela A. Braun, Jonathan D. Porath, Stefan Kohl, Daw‐Yang Hwang, Gabriel C. Dworschak, Bernhard G. Hermann, Anna Pavlova, Osman El‐Maarri, Markus M. Nöthen, Michael Ludwig, Heiko Reutter, Friedhelm Hildebrandt

    Publicado 2015
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  14. 14
    Genome-wide Association Study and Meta-Analysis Identify ISL1 as Genome-wide Significant Susceptibility Gene for Bladder Exstrophy

    Genome-wide Association Study and Meta-Analysis Identify ISL1 as Genome-wide Significant Susceptibility Gene for Bladder Exstrophy por Markus Draaken, Michael Knapp, Tracie Pennimpede, Johanna Magdalena Schmidt, Anne‐Karolin Ebert, Wolfgang Rösch, Raimund Stein, Boris Utsch, Karin Hirsch, Thomas M. Boemers, Elisabeth Mangold, Stefanie Heilmann‐Heimbach, Kerstin U. Ludwig, Ekkehart Jenetzky, Nadine Zwink, Susanne Moebus, Bernhard G. Herrmann, Manuel Mattheisen, Markus M. Nöthen, Michael Ludwig, Heiko Reutter

    Publicado 2015
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  15. 15
    Muscarinic Acetylcholine Receptor M3 Mutation Causes Urinary Bladder Disease and a Prune-Belly-like Syndrome

    Muscarinic Acetylcholine Receptor M3 Mutation Causes Urinary Bladder Disease and a Prune-Belly-like Syndrome por Stefanie Weber, Hölger Thiele, Sevgı Mır, Mohammad R. Toliat, Betül Sözeri, Heiko Reutter, Markus Draaken, Michael Ludwig, Janine Altmüller, Peter Frommolt, Helen M. Stuart, Parisa Ranjzad, Neil A. Hanley, Rachel Jennings, William G. Newman, Duncan T. Wilcox, Uwe Thiel, Karl P. Schlingmann, Rolf Beetz, Peter F. Hoyer, Martin Konrad, Franz Schaefer, Peter Nürnberg, Adrian S. Woolf

    Publicado 2011
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  16. 16
    Cantú Syndrome Is Caused by Mutations in ABCC9

    Cantú Syndrome Is Caused by Mutations in ABCC9 por Bregje W.M. van Bon, Christian Gilissen, Dorothy K. Grange, Raoul C.M. Hennekam, Hülya Kayserili, Hartmut Engels, Heiko Reutter, John R. Østergaard, Éva Morava, Konstantinos Tsiakas, Bertrand Isidor, M Le Merrer, Metin Eser, Nienke Wieskamp, Petra de Vries, Marloes Steehouwer, Joris A. Veltman, Stephen P. Robertson, Han G. Brunner, Bert B.A. de Vries, Alexander Hoischen

    Publicado 2012
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  17. 17
    Research perspectives in the etiology of congenital anorectal malformations using data of the International Consortium on Anorectal Malformations: evidence for risk factors across different populations

    Research perspectives in the etiology of congenital anorectal malformations using data of the International Consortium on Anorectal Malformations: evidence for risk factors across... por Charlotte H. W. Wijers, Ivo de Blaauw, Carlo Marcelis, René Wijnen, Han G. Brunner, Paola Midrio, Piergiorgio Gamba, Maurizio Clementi, Ekkehart Jenetzky, Nadine Zwink, Heiko Reutter, Enrika Bartels, Sabine Grasshoff‐Derr, Stefan Holland‐Cunz, Stuart Hosie, Stefanie Märzheuser, Eberhard Schmiedeke, Célia Cretolle, Sabine Sarnacki, Marc A. Levitt, Nine Knoers, Nel Roeleveld, Iris A.L.M. van Rooij

    Publicado 2010
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  18. 18
    Mutations of the SLIT2–ROBO2 pathway genes SLIT2 and SRGAP1 confer risk for congenital anomalies of the kidney and urinary tract

    Mutations of the SLIT2–ROBO2 pathway genes SLIT2 and SRGAP1 confer risk for congenital anomalies of the kidney and urinary tract por Daw‐Yang Hwang, Stefan Kohl, Xueping Fan, Asaf Vivante, Stefanie Chan, Gabriel C. Dworschak, Julian Schulz, Albertien M. van Eerde, Alina C. Hilger, Heon Yung Gee, Tracie Pennimpede, Bernhard G. Herrmann, Glenn van de Hoek, Kirsten Y. Renkema, Christoph Schell, Tobias B. Huber, Heiko Reutter, Neveen A. Soliman, Nataša Stajić, Radovan Bogdanović, Elijah O. Kehinde, Richard P. Lifton, Velibor Tasić, Lu W, Friedhelm Hildebrandt

    Publicado 2015
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  19. 19
    Sequencing the GRHL3 Coding Region Reveals Rare Truncating Mutations and a Common Susceptibility Variant for Nonsyndromic Cleft Palate

    Sequencing the GRHL3 Coding Region Reveals Rare Truncating Mutations and a Common Susceptibility Variant for Nonsyndromic Cleft Palate por Elisabeth Mangold, Anne C. Böhmer, Nina Ishorst, Ann‐Kathrin Hoebel, Pınar Gültepe, Hannah Schuenke, Johanna Klamt, Andrea Hofmann, Lina Gölz, Ruth Raff, Peter Teßmann, Stefanie Nowak, Heiko Reutter, Alexander Hemprich, Thomas Kreusch, Franz‐Josef Kramer, Bert Braumann, Rudolf H. Reich, Gül Schmidt, Andreas Jäger, Rudolf Reiter, Sibylle Brosch, Janis Stavusis, Miho Ishida, Rimante Seselgyte, Gudrun E. Moore, Markus M. Nöthen, Guntram Borck, Khalid Aldhorae, Baiba Lāce, Philip Stanier, Michael Knapp, Kerstin U. Ludwig

    Publicado 2016
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  20. 20
    Novel congenital disorder of <i>O</i>-linked glycosylation caused by GALNT2 loss of function

    Novel congenital disorder of <i>O</i>-linked glycosylation caused by GALNT2 loss of function por Monica Zilmer, Andrew C. Edmondson, Sumeet A. Khetarpal, Viola Alesi, Maha S. Zaki, Kevin Rostásy, Charlotte Madsen, Francesca Romana Lepri, Lorenzo Sinibaldi, Raffaella Cusmai, Antonio Novelli, Mahmoud Y. Issa, Christina Fenger, Rami Abou Jamra, Heiko Reutter, Silvana Briuglia, Emanuele Agolini, Lars Hestbjerg Hansen, Ulla E. Petäjä‐Repo, John Hintze, Kimiyo Raymond, Kristen Liedtke, Valentina Stanley, Damir Musaev, Joseph G. Gleeson, Cecilia Vitali, William T. O’Brien, Elena Gardella, Guido Rubboli, Daniel J. Rader, Katrine T. Schjoldager, Rikke S. Møller

    Publicado 2020
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