Zobrazeno 1 - 10
of 156
pro vyhledávání: '"Ute Moog"'
Autor:
Tim Ott, Lilian Kaufmann, Martin Granzow, Katrin Hinderhofer, Claus R. Bartram, Susanne Theiß, Angelika Seitz, Nagarajan Paramasivam, Angela Schulz, Ute Moog, Martin Blum, Christina M. Evers
Publikováno v:
Frontiers in Physiology, Vol 10 (2019)
Joubert syndrome (JS) is a congenital autosomal-recessive or—in rare cases–X-linked inherited disease. The diagnostic hallmark of the so-called molar tooth sign describes the morphological manifestation of the mid- and hind-brain in axial brain s
Externí odkaz:
https://doaj.org/article/a4fc2383d59642ea9bc70a66d9573504
Autor:
Mattias Schäfer, Martina Kadmon, Wolfgang Schmidt, Irmgard Treiber, Ute Moog, Christian Sutter, Maximilian Stehr
Publikováno v:
European Journal of Pediatric Surgery Reports, Vol 04, Iss 01, Pp 017-021 (2016)
Abstract Gardner fibromas (GFs) have only recently been described as poorly circumscribed tumor-like lesions, which are exceedingly rare in children. GFs are associated with APC gene mutations and therefore with familial adenomatous polyposis (FAP).
Externí odkaz:
https://doaj.org/article/67e4b95662ae45b791bde924fcc3648b
Autor:
Jonathon Blake, Andrew Riddell, Susanne Theiss, Alexis Perez Gonzalez, Bettina Haase, Anna Jauch, Johannes W G Janssen, David Ibberson, Dinko Pavlinic, Ute Moog, Vladimir Benes, Heiko Runz
Publikováno v:
PLoS ONE, Vol 9, Iss 3, p e90894 (2014)
Balanced chromosome abnormalities (BCAs) occur at a high frequency in healthy and diseased individuals, but cost-efficient strategies to identify BCAs and evaluate whether they contribute to a phenotype have not yet become widespread. Here we apply g
Externí odkaz:
https://doaj.org/article/7fad28d8364141c3b51941e70dfb5f9d
Autor:
Angela M. Kaindl, Julia B. Hennermann, Hans H. Niller, Ute Hehr, Horst von Bernuth, Rabih Chaoui, Sybille Landwehr-Kenzel, Gabriele Hahn, Christine Mundlos, Ulrich-Wilhelm Thomale, Thorsten Rosenbaum, Ute Moog, Denise Horn, Maja von der Hagen
Publikováno v:
Monatsschrift Kinderheilkunde. 170:929-933
Publikováno v:
Medizinische Genetik. 34:189-191
Publikováno v:
Medizinische Genetik. 34:81-83
Autor:
PhD, Ute Moog, MD1 Ute.Moog@med.uni-heidelberg.de
Publikováno v:
Medizinische Genetik. Jun2023, Vol. 35 Issue 2, p143-144. 2p.
Autor:
Caroline M, Kolvenbach, Tim, Felger, Luca, Schierbaum, Isabelle, Thiffault, Tomi, Pastinen, Maria, Szczepańska, Marcin, Zaniew, Piotr, Adamczyk, Allan, Bayat, Öznur, Yilmaz, Tobias T, Lindenberg, Holger, Thiele, Friedhelm, Hildebrandt, Katrin, Hinderhofer, Ute, Moog, Alina C, Hilger, Bonnie, Sullivan, Lauren, Bartik, Piotr, Gnyś, Phillip, Grote, Benjamin, Odermatt, Heiko M, Reutter, Gabriel C, Dworschak
Publikováno v:
Journal of medical genetics.
Here, exome sequencing and CNV analyses besides expression studies in zebrafish and mouse andIn this study, we identified putative disease-causing SNVs and CNVs inThe identified SNVs and CNVs in affected individuals with congenital anomalies of the u
Autor:
Lottie D, Morison, Elisabeth, Meffert, Miriam, Stampfer, Irene, Steiner-Wilke, Brigitte, Vollmer, Katrin, Schulze, Tracy, Briggs, Ruth, Braden, Adam, Vogel, Daisy, Thompson-Lake, Chirag, Patel, Edward, Blair, Himanshu, Goel, Samantha, Turner, Ute, Moog, Angelika, Riess, Frederique, Liegeois, David A, Koolen, David J, Amor, Tjitske, Kleefstra, Simon E, Fisher, Christiane, Zweier, Angela T, Morgan
Publikováno v:
Journal of medical genetics.
Heterozygous disruptions ofHere we phenotyped 28 individuals from 17 families with pathogenicSpeech disorders were prevalent (23/25, 92%) and CAS was most common (22/25, 88%), with similar speech presentations across English and German. Speech was st
Autor:
Laura Gieldon, Katrin Hinderhofer, Lilian T. Kaufmann, Anna Jauch, Ulrich Haug, Ute Moog, Katharina Obeid
Publikováno v:
American Journal of Medical Genetics Part A. 185:1261-1265
Haploinsufficiency of AUTS2 has been associated with neurodevelopmental disorders and dysmorphic features (MIM # 615834). More than 50 patients have been described, mostly carrying de novo deletions of one or more exons, including eight patients with