Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Andrea Hedergott"'
Autor:
Julia Fricke, Antje Neugebauer, Peter Nürnberg, Meliha Karsak, Birgit Lorenz, Sebastian Rading, Andrea Hedergott, Janine Altmüller, Markus N. Preising, Simon von Ameln, Christian Kubisch, Peter Herkenrath, Alexander E Volk
Publikováno v:
Human Genetics. 140:1157-1168
Infantile nystagmus syndrome (INS) denominates early-onset, involuntary oscillatory eye movements with different etiologies. Nystagmus is also one of the symptoms in oculocutaneus albinism (OCA), a heterogeneous disease mainly caused by defects in me
Autor:
Lars Tebbe, Tobias Eisenberger, Antje Neugebauer, Bodo B. Beck, Carsten Bergmann, Kym M. Boycott, Andrea Pannes, Andreas R. Janecke, Simon Staubach, Enza Maria Valente, Uwe Wolfrum, Jeremy Wegner, Andrew M. Fry, Peter Nürnberg, Raoul Heller, Andrea Hedergott, Yun-Dong Wu, Malte P. Bartram, Mohammad R. Toliat, Janine Altmüller, Heike Göbel, Jennifer B. Phillips, Monte Westerfield, Michaela Thoenes, Friederike Koerber, Yang Wang, Holger Thiele, Josephina Sampson, Gudrun Nürnberg, Hanno J. Bolz
Publikováno v:
Human Mutation. 35:1153-1162
We describe a consanguineous Iraqi family with Leber congenital amaurosis (LCA), Joubert syndrome (JBTS), and polycystic kidney disease (PKD). Targeted next-generation sequencing for excluding mutations in known LCA and JBTS genes, homozygosity mappi
Autor:
Christian Kubisch, Andrea Hedergott, Peter Herkenrath, Janine Altmüller, Julia Fricke, Alexander E Volk, Peter Nürnberg, Holger Thiele, Antje Neugebauer
Publikováno v:
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie. 253(12)
Leber congenital amaurosis (LCA) is a severe retinal dystrophy, typically manifesting in the first year of life. Mutations in more than 18 genes have been reported to date. In recent studies, biallelic mutations in NMNAT1 encoding nicotinamide mononu