Genome-wide array data and next generation sequencing unravel the etiology of urogenital malformations

Por Ludwig, Michael, Reutter, Heiko
Publicado no J Pediatr Genet (2012)

Lowe syndrome/Dent-2 disease: A comprehensive review of known and novel aspects

Por Recker, Florian, Reutter, Heiko, Ludwig, Michael
Publicado no J Pediatr Genet (2013)

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

Por Reutter, Heiko, Hilger, Alina C., Hildebrandt, Friedhelm, Ludwig, Michael
Publicado no Pediatr Nephrol (2016)

The Exstrophy-epispadias complex

Por Ebert, Anne-Karoline, Reutter, Heiko, Ludwig, Michael, Rösch, Wolfgang H
Publicado em 2009

Familial tetrasomy 4q35.2 associated with congenital diaphragmatic hernia and unilateral renal agenesis: a case report

Por Bogs, Thomas, Kipfmüller, Florian, Kohlschmidt, Nicolai, Gembruch, Ulrich, Müller, Andreas, Reutter, Heiko
Publicado no J Med Case Rep (2016)

Genetics of Bladder-Exstrophy-Epispadias Complex (BEEC): Systematic Elucidation of Mendelian and Multifactorial Phenotypes

Por Reutter, Heiko, Keppler-Noreuil, Kim, E. Keegan, Catherine, Thiele, Holger, Yamada, Gen, Ludwig, Michael
Publicado no Curr Genomics (2016)

Array-based molecular karyotyping in fetuses with isolated brain malformations identifies disease-causing CNVs

Por Schumann, Madita, Hofmann, Andrea, Krutzke, Sophia K., Hilger, Alina C., Marsch, Florian, Stienen, Dietlinde, Gembruch, Ulrich, Ludwig, Michael, Merz, Waltraut M., Reutter, Heiko
Publicado no J Neurodev Disord (2016)

Clinical Geneticists’ Views of VACTERL/VATER Association

Por Solomon, Benjamin D., Bear, Kelly A., Kimonis, Virginia, de Klein, Annelies, Scott, Daryl A., Shaw-Smith, Charles, Tibboel, Dick, Reutter, Heiko, Giampietro, Philip F.
Publicado em 2012

Cantú Syndrome Resulting from Activating Mutation in the KCNJ8 Gene

Por Cooper, Paige E., Reutter, Heiko, Woelfle, Joachim, Engels, Hartmut, Grange, Dorothy K., van Haaften, Gijs, van Bon, Bregje W., Hoischen, Alexander, Nichols, Colin G.
Publicado no Hum Mutat (2014)

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

Por Kohl, Stefan, Hwang, Daw-Yang, Dworschak, Gabriel C., Hilger, Alina C., Saisawat, Pawaree, Vivante, Asaf, Stajic, Natasa, Bogdanovic, Radovan, Reutter, Heiko M., Kehinde, Elijah O., Tasic, Velibor, Hildebrandt, Friedhelm
Publicado em 2014

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

Por Hwang, Daw-Yang, Dworschak, Gabriel C., Kohl, Stefan, Saisawat, Pawaree, Vivante, Asaf, Hilger, Alina C., Reutter, Heiko M., Soliman, Neveen A., Bogdanovic, Radovan, Kehinde, Elijah O., Tasic, Velibor, Hildebrandt, Friedhelm
Publicado em 2014

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 Solomon, Benjamin D., Baker, Linda A., Bear, Kelly A., Cunningham, Bridget K., Giampietro, Philip F., Hadigan, Colleen, Hadley, Donald W., Harrison, Steven, Levitt, Marc A., Niforatos, Nickie, Paul, Scott M., Raggio, Cathleen, Reutter, Heiko, Warren-Mora, Nicole
Publicado em 2013

Assisted reproductive techniques and the risk of anorectal malformations: a German case-control study

Por Zwink, Nadine, Jenetzky, Ekkehart, Schmiedeke, Eberhard, Schmidt, Dominik, Märzheuser, Stefanie, Grasshoff-Derr, Sabine, Holland-Cunz, Stefan, Weih, Sandra, Hosie, Stuart, Reifferscheid, Peter, Ameis, Helen, Kujath, Christina, Rißmann, Anke, Obermayr, Florian, Schwarzer, Nicole, Bartels, Enrika, Reutter, Heiko, Brenner, Hermann
Publicado em 2012

Targeted sequencing of 96 renal developmental microRNAs in 1213 individuals from 980 families with congenital anomalies of the kidney and urinary tract

Por Kohl, Stefan, Chen, Jing, Vivante, Asaf, Hwang, Daw-Yang, Shril, Shirlee, Dworschak, Gabriel C., Van Der Ven, Amelie, Sanna-Cherchi, Simone, Bauer, Stuart B., Lee, Richard S., Soliman, Neveen A., Kehinde, Elijah O., Reutter, Heiko M., Tasic, Velibor, Hildebrandt, Friedhelm
Publicado no Nephrol Dial Transplant (2016)

Yunis-Varón Syndrome Is Caused by Mutations in FIG4, Encoding a Phosphoinositide Phosphatase

Por Campeau, Philippe M., Lenk, Guy M., Lu, James T., Bae, Yangjin, Burrage, Lindsay, Turnpenny, Peter, Román Corona-Rivera, Jorge, Morandi, Lucia, Mora, Marina, Reutter, Heiko, Vulto-van Silfhout, Anneke T., Faivre, Laurence, Haan, Eric, Gibbs, Richard A., Meisler, Miriam H., Lee, Brendan H.
Publicado em 2013

Inheritance of the VATER/VACTERL association

Por Bartels, Enrika, Jenetzky, Ekkehart, Solomon, Benjamin D., Ludwig, Michael, Schmiedeke, Eberhard, Grasshoff-Derr, Sabine, Schmidt, Dominik, Märzheuser, Stefanie, Hosie, Stuart, Weih, Sandra, Holland-Cunz, Stefan, Palta, Markus, Leonhardt, Johannes, Schäfer, Mattias, Kujath, Christina, Riβmann, Anke, Nöthen, Markus M., Reutter, Heiko, Zwink, Nadine
Publicado em 2012

Targeted re-sequencing of 29 candidate genes and mouse expression studies implicate ZIC3 and FOXF1 in human VATER/VACTERL association

Por Hilger, Alina C., Halbritter, Jan, Pennimpede, Tracie, van der Ven, Amelie, Sarma, Georgia, Braun, Daniela A., Porath, Jonathan D., Kohl, Stefan, Hwang, Daw-Yung, Dworschak, Gabriel C., Hermann, Bernhard G., Pavlova, Anna, El-Maarri, Osman, Nöthen, Markus M., Ludwig, Michael, Reutter, Heiko, Hildebrandt, Friedhelm
Publicado no Hum Mutat (2015)

CNV analysis in 169 patients with bladder exstrophy-epispadias complex

Por von Lowtzow, Catharina, Hofmann, Andrea, Zhang, Rong, Marsch, Florian, Ebert, Anne-Karoline, Rösch, Wolfgang, Stein, Raimund, Boemers, Thomas M., Hirsch, Karin, Marcelis, Carlo, Feitz, Wouter F. J., Brusco, Alfredo, Migone, Nicola, Di Grazia, Massimo, Moebus, Susanne, Nöthen, Markus M., Reutter, Heiko, Ludwig, Michael, Draaken, Markus
Publicado no BMC Med Genet (2016)

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

Por Draaken, Markus, Knapp, Michael, Pennimpede, Tracie, Schmidt, Johanna M., Ebert, Anne-Karolin, Rösch, Wolfgang, Stein, Raimund, Utsch, Boris, Hirsch, Karin, Boemers, Thomas M., Mangold, Elisabeth, Heilmann, Stefanie, Ludwig, Kerstin U., Jenetzky, Ekkehart, Zwink, Nadine, Moebus, Susanne, Herrmann, Bernhard G., Mattheisen, Manuel, Nöthen, Markus M., Ludwig, Michael, Reutter, Heiko
Publicado no PLoS Genet (2015)

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

Por Weber, Stefanie, Thiele, Holger, Mir, Sevgi, Toliat, Mohammad Reza, Sozeri, Betül, Reutter, Heiko, Draaken, Markus, Ludwig, Michael, Altmüller, Janine, Frommolt, Peter, Stuart, Helen M., Ranjzad, Parisa, Hanley, Neil A., Jennings, Rachel, Newman, William G., Wilcox, Duncan T., Thiel, Uwe, Schlingmann, Karl Peter, Beetz, Rolf, Hoyer, Peter F., Konrad, Martin, Schaefer, Franz, Nürnberg, Peter, Woolf, Adrian S.
Publicado em 2011