Výsledky vyhledávání - "Christoph M. Heyer"

Mutations in TP73 cause impaired mucociliary clearance and lissencephaly

Autor: Heike Olbrich, Gerard W. Dougherty, Heymut Omran, Cordula Koerner-Rettberg, Norbert Teig, Christoph M. Heyer, Mohammed Almannai, Eissa Faqeih, Mark Dzietko, Charlotte Thiels, Ibrahim Al Mogarri, Julia Wallmeier, Wadha Al Otaibi, Diana Bracht, Sandra Cindric, Hessa S. Alsaif, Fowzan S. Alkuraya, Sameena Khan, Aqeela Al-Hashim

Publikováno v: Am J Hum Genet

Summary TP73 belongs to the TP53 family of transcription factors and has therefore been well studied in cancer research. Studies in mice, however, have revealed non-oncogenic activities related to multiciliogenesis. Utilizing whole-exome sequencing a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b2f9272e22696739700c5b503a9ffc1d
https://doi.org/10.1016/j.ajhg.2021.05.002

Zobrazit plný text záznamu

Canavan's spongiform leukodystrophy (Aspartoacylase deficiency) with emphasis on sonographic features in infancy: description of a case report and review of the literature

Autor: Leon Rossler, Stefan Lemburg, Almut Weitkämper, Charlotte Thiels, Sabine Hoffjan, Huu Phuc Nguyen, Thomas Lücke, Christoph M. Heyer

Publikováno v: Journal of ultrasound.

Canavan disease (CD; MIM 271,900) or spongy degeneration of the central nervous system (CNS) is a lethal, rare autosomal recessive leukodystrophy, first described in 1931 (Canavan in Arch Neurol Psychiatry 25: 299–308, 1931). The clinical presentat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0709741e4f21bf664084d80524584369
https://pubmed.ncbi.nlm.nih.gov/35187608

Zobrazit plný text záznamu

Rhizomelia and Impaired Linear Growth in a Girl with Juvenile Paget Disease : The Natural History of the Condition

Autor: Katja Steff, Berthold P. Hauffa, Jakob Höppner, Felix Lobert, Christoph M. Heyer, Corinna Grasemann

In ultra-rare bone diseases, information on growth during childhood is sparse. Juvenile Paget disease (JPD) is an ultra-rare disease, characterized by loss of function of osteoprotegerin (OPG). OPG inhibits osteoclast activation via the receptor acti

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::668f39c95a338e8ec2c18941cb1829a3
https://www.ncbi.nlm.nih.gov/pubmed/34261073

Zobrazit plný text záznamu

Die Skaphoidfraktur

Autor: A. H. Roushan, Christoph M. Heyer, D. J. Tilkorn, Jörg Hauser, H. Sorg

Publikováno v: Der Unfallchirurg. 120:885-889

The diagnosis of a scaphoid fracture, especially in the differentiation of a fresh fracture, the nonunion or a possible anatomical norm variant, can be difficult. We report on two patients who presented with stress-related, radiocarpal pain in our de

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::f6161d1b8f8803a89a306b18300783ec
https://doi.org/10.1007/s00113-017-0407-1

Zobrazit plný text záznamu

Muscle imaging data in late-onset Pompe disease reveal a correlation between the pre-existing degree of lipomatous muscle alterations and the efficacy of long-term enzyme replacement therapy

Autor: Rudolf A. Kley, Matthias Vorgerd, Tobias Schmidt-Wilcke, Anne-Katrin Güttsches, K. M. Gruhn, Martin Tegenthoff, Volkmar Nicolas, Christoph M. Heyer, Robert Rehmann

Publikováno v: Molecular Genetics and Metabolism Reports, Vol 3, Iss C, Pp 58-64 (2015)
Molecular Genetics and Metabolism Reports

Background: Late-onset Pompe disease (LOPD) is a metabolic myopathy caused by mutations in GAA and characterized by proximal muscle weakness and respiratory insufficiency. There is evidence from clinical studies that enzyme replacement therapy (ERT)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::822c0325d10fc4db855166e7c4fc2884

Zobrazit plný text záznamu

Anxiety of Patients Undergoing CT Imaging—An Underestimated Problem?

Autor: Stefan P. Lemburg, Johannes Thüring, Nina Kreddig, Martha Dohna, Monika Hasenbring, Christoph M. Heyer, Volkmar Nicolas

Publikováno v: Academic Radiology. 22:105-112

Prospective evaluation of anxiety in patients undergoing computed tomography (CT) imaging using a standardized state-trait anxiety inventory (STAI-S) and identification of possible risk factors.During a 9-month interval, patients undergoing CT were q

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::40ba5482819bf83b25ab3ee7fb946c0a
https://doi.org/10.1016/j.acra.2014.07.014

Zobrazit plný text záznamu

Functional Magnetic Resonance Imaging as a new additional modality in the assessment of Primary Ciliary Dyskinesia

Autor: Gregor Sommer, Sylvia Nyilas, Orso Pusterla, Philipp Latzin, Anne Schlegtendal, Florian Singer, Christoph M. Heyer, Cordula Koerner Rettberg, Oliver Bieri, Grzegorz Bauman

Publikováno v: Paediatric Respiratory Physiology and Sleep.

Primary ciliary dyskinesia (PCD) is characterized by functional abnormalities of the cilia, leading to chronic airway infection and remodeling. Lung function tests like inert gas washout measurements detect ventilation inhomogeneity, but cannot deter

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::cb5749737c30ba3df1e60186515d6580
https://doi.org/10.1183/1393003.congress-2017.pa3343

Zobrazit plný text záznamu

Das kombinierte mediastinale und retroperitoneale zystische Lymphangiom als seltene Ursache rezidivierender Pleuraergüsse

Autor: J. W. Walter, C. Mölleken, P. J. Wagenhäuser, Christoph M. Heyer, Volkmar Nicolas

Publikováno v: Pneumologie. 67:265-269

We report on a 71-year-old female patient with spontaneous unilateral recurrent chylothoraces - at first glance with no apparent cause. After performing CT, MRI, lymphatic scintigraphy, and CT-guided biopsy, we were able to establish the diagnosis of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::41cd9ec73ff27082dde65c791d2bee31
https://doi.org/10.1055/s-0032-1326406

Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání