Clinical spectrum of females with HCCS mutation: from no clinical signs to a neonatal lethal form of the microphthalmia with linear skin defects (MLS) syndrome

Tekijä van Rahden, Vanessa A, Rau, Isabella, Fuchs, Sigrid, Kosyna, Friederike K, de Almeida, Hiram Larangeira, Fryssira, Helen, Isidor, Bertrand, Jauch, Anna, Joubert, Madeleine, Lachmeijer, Augusta M A, Zweier, Christiane, Moog, Ute, Kutsche, Kerstin
Julkaistu 2014

Nonsense Mutations in FAM161A Cause RP28-Associated Recessive Retinitis Pigmentosa

Tekijä Langmann, Thomas, Di Gioia, Silvio Alessandro, Rau, Isabella, Stöhr, Heidi, Maksimovic, Nela S., Corbo, Joseph C., Renner, Agnes B., Zrenner, Eberhart, Kumaramanickavel, Govindasamy, Karlstetter, Marcus, Arsenijevic, Yvan, Weber, Bernhard H.F., Gal, Andreas, Rivolta, Carlo
Julkaistu 2010

Autosomal-Recessive Posterior Microphthalmos Is Caused by Mutations in PRSS56, a Gene Encoding a Trypsin-Like Serine Protease

Tekijä Gal, Andreas, Rau, Isabella, El Matri, Leila, Kreienkamp, Hans-Jürgen, Fehr, Susanne, Baklouti, Karim, Chouchane, Ibtissem, Li, Yun, Rehbein, Monika, Fuchs, Josefine, Fledelius, Hans C., Vilhelmsen, Kaj, Schorderet, Daniel F., Munier, Francis L., Ostergaard, Elsebet, Thompson, Debra A., Rosenberg, Thomas
Julkaistu 2011

Nonsense Mutations in SMPX, Encoding a Protein Responsive to Physical Force, Result in X-Chromosomal Hearing Loss

Tekijä Huebner, Antje K., Gandia, Marta, Frommolt, Peter, Maak, Anika, Wicklein, Eva M., Thiele, Holger, Altmüller, Janine, Wagner, Florian, Viñuela, Antonio, Aguirre, Luis A., Moreno, Felipe, Maier, Hannes, Rau, Isabella, Gießelmann, Sebastian, Nürnberg, Gudrun, Gal, Andreas, Nürnberg, Peter, Hübner, Christian A., del Castillo, Ignacio, Kurth, Ingo
Julkaistu 2011

Clinically relevant variants in a large cohort of Indian patients with Marfan syndrome and related disorders identified by next-generation sequencing

Tekijä Nayak, Shalini S., Schneeberger, Pauline E., Patil, Siddaramappa J., Arun, Karegowda M., Suresh, Pujar V., Kiran, Viralam S., Siddaiah, Sateesh, Maiya, Shreesha, Venkatachalagupta, Shrikanth K., Kausthubham, Neethukrishna, Kortüm, Fanny, Rau, Isabella, Wey-Fabrizius, Alexandra, Van Den Heuvel, Lotte, Meester, Josephina, Van Laer, Lut, Shukla, Anju, Loeys, Bart, Girisha, Katta M., Kutsche, Kerstin
Julkaisussa Sci Rep (2021)