Single-Gene Causes of Congenital Anomalies of the Kidney and Urinary Tract (CAKUT) in Humans

Por Vivante, Asaf, Kohl, Stefan, Hwang, Daw-Yang, Dworschak, Gabriel C., Hildebrandt, Friedhelm
Publicado no Pediatr Nephrol (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

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)

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)

De novo microduplications at 1q41, 2q37.3, and 8q24.3 in patients with VATER/VACTERL association

Por Hilger, Alina, Schramm, Charlotte, Pennimpede, Tracie, Wittler, Lars, Dworschak, Gabriel C, Bartels, Enrika, Engels, Hartmut, Zink, Alexander M, Degenhardt, Franziska, Müller, Annette M, Schmiedeke, Eberhard, Grasshoff-Derr, Sabine, Märzheuser, Stefanie, Hosie, Stuart, Holland-Cunz, Stefan, Wijers, Charlotte HW, Marcelis, Carlo LM, van Rooij, Iris ALM, Hildebrandt, Friedhelm, Herrmann, Bernhard G, Nöthen, Markus M, Ludwig, Michael, Reutter, Heiko, Draaken, Markus
Publicado em 2013

Mutations of the SLIT2-ROBO2 pathway genes SLIT2 and SRGAP1 Confer Risk for Congenital Anomalies of the Kidney and Urinary Tract

Por Hwang, Daw-Yang, Kohl, Stefan, Fan, Xueping, Vivante, Asaf, Chan, Stefanie, Dworschak, Gabriel C, Schulz, Julian, van Eerde, Albertien M, Hilger, Alina C, Gee, Heon Yung, Pennimpede, Tracie, Herrmann, Bernhard G, van de Hoek, Glenn, Renkema, Kirsten Y, Schell, Christoph, Huber, Tobias B, Reutter, Heiko M, Soliman, Neveen A, Stajic, Natasa, Bogdanovic, Radovan, Kehinde, Elijah O, Lifton, Richard P, Tasic, Velibor, Lu, Weining, Hildebrandt, Friedhelm
Publicado no Hum Genet (2015)

VATER/VACTERL association: identification of seven new twin pairs, a systematic review of the literature, and a classical twin analysis

Por Bartels, Enrika, Schulz, Anna C., Mora, Nicole W., Pineda-Alvarez, Daniel E., Wijers, Charlotte H. W., Marcelis, Carlo M., Stressig, Rüdiger, Ritgen, Jochen, Schmiedeke, Eberhard, Mattheisen, Manuel, Draaken, Markus, Hoffmann, Per, Hilger, Alina C., Dworschak, Gabriel C., Baudisch, Friederike, Ludwig, Michael, Bagci, Soyhan, Müller, Andreas, Gembruch, Ulrich, Geipel, Annegret, Berg, Christoph, Bartmann, Peter, Nöthen, Markus M., van Rooij, Iris A.L.M., Solomon, Benjamin D., Reutter, Heiko M.
Publicado em 2012

Whole exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association

Por Saisawat, Pawaree, Kohl, Stefan, Hilger, Alina C., Hwang, Daw-Yang, Gee, Heon Yung, Dworschak, Gabriel C., Tasic, Velibor, Pennimpede, Tracie, Natarajan, Sivakumar, Sperry, Ethan, Matassa, Danilo S., Stajić, Nataša, Bogdanovic, Radovan, de Blaauw, Ivo, Marcelis, Carlo L.M., Wijers, Charlotte H.W., Bartels, Enrika, Schmiedeke, Eberhard, Schmidt, Dominik, Mäzheuser, Stefanie, Grasshoff-Derr, Sabine, Holland-Cunz, Stefan, Ludwig, Michael, Nöhen, Markus M., Draaken, Markus, Brosens, Erwin, Heij, Hugo, Tibboel, Dick, Herrmann, Bernhard G., Solomon, Benjamin D., de Klein, Annelies, van Rooij, Iris A.L.M., Esposito, Franca, Reutter, Heiko M., Hildebrandt, Friedhelm
Publicado em 2013