Genetic screening confirms heterozygous mutations in ACAN as a major cause of idiopathic short stature

por Hauer, Nadine N., Sticht, Heinrich, Boppudi, Sangamitra, Büttner, Christian, Kraus, Cornelia, Trautmann, Udo, Zenker, Martin, Zweier, Christiane, Wiesener, Antje, Jamra, Rami Abou, Wieczorek, Dagmar, Kelkel, Jaqueline, Jung, Anna-Maria, Uebe, Steffen, Ekici, Arif. B, Rohrer, Tilman, Reis, André, Dörr, Helmuth-Günther, Thiel, Christian T.
Publicado 2017

Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature

por Hauer, Nadine N, Popp, Bernt, Schoeller, Eva, Schuhmann, Sarah, Heath, Karen E, Hisado-Oliva, Alfonso, Klinger, Patricia, Kraus, Cornelia, Trautmann, Udo, Zenker, Martin, Zweier, Christiane, Wiesener, Antje, Abou Jamra, Rami, Kunstmann, Erdmute, Wieczorek, Dagmar, Uebe, Steffen, Ferrazzi, Fulvia, Büttner, Christian, Ekici, Arif B, Rauch, Anita, Sticht, Heinrich, Dörr, Helmuth-Günther, Reis, André, Thiel, Christian T
Publicado 2018

Evolutionary conserved networks of human height identify multiple Mendelian causes of short stature

por Hauer, Nadine N., Popp, Bernt, Taher, Leila, Vogl, Carina, Dhandapany, Perundurai S., Büttner, Christian, Uebe, Steffen, Sticht, Heinrich, Ferrazzi, Fulvia, Ekici, Arif B., De Luca, Alessandro, Klinger, Patrizia, Kraus, Cornelia, Zweier, Christiane, Wiesener, Antje, Jamra, Rami Abou, Kunstmann, Erdmute, Rauch, Anita, Wieczorek, Dagmar, Jung, Anna-Marie, Rohrer, Tilman R., Zenker, Martin, Doerr, Helmuth-Guenther, Reis, André, Thiel, Christian T.
Publicado 2019

Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction

por Tiosano, Dov, Baris, Hagit N., Chen, Anlu, Hitzert, Marrit M., Schueler, Markus, Gulluni, Federico, Wiesener, Antje, Bergua, Antonio, Mory, Adi, Copeland, Brett, Gleeson, Joseph G., Rump, Patrick, van Meer, Hester, Sival, Deborah A., Haucke, Volker, Kriwinsky, Josh, Knaup, Karl X., Reis, André, Hauer, Nadine N., Hirsch, Emilio, Roepman, Ronald, Pfundt, Rolph, Thiel, Christian T., Wiesener, Michael S., Aslanyan, Mariam G., Buchner, David A.
Publicado 2019