A Postzygotic SMO Mutation Caused the Original Case of Happle–Tinschert Syndrome

by Martin Zenker, Sigrid Tinschert, Ilse Wieland, Denny Schanze, Rudolf Happle
Published 2018-02-01

Double NF1 inactivation affects adrenocortical function in NF1Prx1 mice and a human patient.

by Karolina Kobus, Daniela Hartl, Claus Eric Ott, Monika Osswald, Angela Huebner, Maja von der Hagen, Denise Emmerich, Jirko Kühnisch, Hans Morreau, Frederik J Hes, Victor F Mautner, Anja Harder, Sigrid Tinschert, Stefan Mundlos, Mateusz Kolanczyk
Published 2015-01-01

Meta-Analysis of Genome-Wide Association Studies and Network Analysis-Based Integration with Gene Expression Data Identify New Suggestive Loci and Unravel a Wnt-Centric Network Ass...

by Kerstin Becker, Sabine Siegert, Mohammad Reza Toliat, Juanjiangmeng Du, Ramona Casper, Guido H Dolmans, Paul M Werker, Sigrid Tinschert, Andre Franke, Christian Gieger, Konstantin Strauch, Michael Nothnagel, Peter Nürnberg, Hans Christian Hennies, German Dupuytren Study Group
Published 2016-01-01

Multiscale, converging defects of macro-porosity, microstructure and matrix mineralization impact long bone fragility in NF1.

by Jirko Kühnisch, Jong Seto, Claudia Lange, Susanne Schrof, Sabine Stumpp, Karolina Kobus, Julia Grohmann, Nadine Kossler, Peter Varga, Monika Osswald, Denise Emmerich, Sigrid Tinschert, Falk Thielemann, Georg Duda, Wenke Seifert, Thaqif El Khassawna, David A Stevenson, Florent Elefteriou, Uwe Kornak, Kay Raum, Peter Fratzl, Stefan Mundlos, Mateusz Kolanczyk
Published 2014-01-01

Modifier Genes in Microcephaly: A Report on <i>WDR62</i>, <i>CEP63</i>, <i>RAD50</i> and <i>PCNT</i> Variants Exacerbating Disease Caused by Biallelic Mutations of <i>ASPM</i> and...

by Ehtisham Ul Haq Makhdoom, Syeda Seema Waseem, Maria Iqbal, Uzma Abdullah, Ghulam Hussain, Maria Asif, Birgit Budde, Wolfgang Höhne, Sigrid Tinschert, Saadia Maryam Saadi, Hammad Yousaf, Zafar Ali, Ambrin Fatima, Emrah Kaygusuz, Ayaz Khan, Muhammad Jameel, Sheraz Khan, Muhammad Tariq, Iram Anjum, Janine Altmüller, Holger Thiele, Stefan Höning, Shahid Mahmood Baig, Peter Nürnberg, Muhammad Sajid Hussain
Published 2021-05-01

Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies.

by Tobias Eisenberger, Christine Neuhaus, Arif O Khan, Christian Decker, Markus N Preising, Christoph Friedburg, Anika Bieg, Martin Gliem, Peter Charbel Issa, Frank G Holz, Shahid M Baig, Yorck Hellenbroich, Alberto Galvez, Konrad Platzer, Bernd Wollnik, Nadja Laddach, Saeed Reza Ghaffari, Maryam Rafati, Elke Botzenhart, Sigrid Tinschert, Doris Börger, Axel Bohring, Julia Schreml, Stefani Körtge-Jung, Chayim Schell-Apacik, Khadijah Bakur, Jumana Y Al-Aama, Teresa Neuhann, Peter Herkenrath, Gudrun Nürnberg, Peter Nürnberg, John S Davis, Andreas Gal, Carsten Bergmann, Birgit Lorenz, Hanno J Bolz
Published 2013-01-01