Search Results - "Koch, MC"

The global pandemic and changes in women's reproductive health: an observational study by Haile, Liya, van de Roemer, Niels, Gemzell-Danielsson, Kristina, Perelló Capó, Josep, Lete Lasa, Iñaki, Vannuccini, Silvia, Koch, Martin C., Hildebrandt, Thomas, Calaf, Joaquim

“…The COVID-19 global pandemic has led to the death of millions around the world and impacted the overall health of many people. In this article we aim to…”
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Myotonic dystrophy type 2: Molecular, diagnostic and clinical spectrum by DAY, J. W, RICKER, K, DALTON, J. C, RANUM, L. P. W, JACOBSEN, J. F, RASMUSSEN, L. J, DICK, K. A, KRESS, W, SCHNEIDER, C, KOCH, M. C, BEILMAN, G. J, HARRISON, A. R

“…Myotonic dystrophy types 1 (DM1) and 2 (DM2/proximal myotonic myopathy PROMM) are dominantly inherited disorders with unusual multisystemic clinical features…”
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A polymorphic microsatellite that mediates induction of PIG3 by p53 by Dobbelstein, Matthias, Contente, Ana, Dittmer, Alexandra, Koch, Manuela C, Roth, Judith

“…The gene PIG3 is induced by the tumor suppressor p53 but not by p53 mutants unable to induce apoptosis, suggesting its involvement in p53-mediated cell death…”
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Accuracy of colposcopic findings in detecting vaginal intraepithelial neoplasia: a retrospective study by FA, Stübs, Adler, W, MW, Beckmann, Gass, P, Hartmann, A, Mehlhorn, G, SK, Renner, CE, Schulmeyer, Strehl, J, Koch, MC

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Accuracy of vulvoscopic findings in detecting early vulvar neoplasia by Stübs, FA, Mehlhorn, G, Gass, P, Schulmeyer, CE, Adler, W, Strehl, J, Hartmann, A, Beckmann, MW, Renner, SK, Koch, MC

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Correlation of referring cytology and in-house cytology in detection of early cervical neoplasia by Schulmeyer, CE, Stübs, F, Gaß, P, Renner, SK, Mehlhorn, G, Geppert, C, Adler, W, Beckmann, MW, Koch, MC

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Standards für die Diagnostik und Therapie von Patientinnen mit Dysplasien oder Erkrankungen der Zervix, Vulva und Vagina an einer zertifizierten Dysplasie-Einheit by Schulmeyer, C, Stübs, F, Gaß, P, Beckmann, MW, Renner, SK, Mehlhorn, G, Koch, MC

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Muscle pathology in 57 patients with myotonic dystrophy type 2 by Schoser, Benedikt G.H., Schneider-Gold, Christiane, Kress, Wolfram, Goebel, Hans-Hilmar, Reilich, Peter, Koch, Manuela C., Pongratz, Dieter E., Toyka, Klaus V., Lochmüller, Hanns, Ricker, Kenneth

“…We evaluated muscle biopsies from 57 patients with genetically confirmed myotonic dystrophy type 2/proximal myotonic myopathy (DM2/PROMM). Light microscopy…”
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Einfluss einer mobilen Applikation (App) auf die Anwendungs-Sicherheit (Pearl-Index) eines Zykluscomputers, der zur Familienplanung verwendet wird. Ergebnisse einer retrospektiven Studie by Koch, MC, van de Roemer, N, Beckmann, MW, Renner, SP

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The Skeletal Muscle Chloride Channel in Dominant and Recessive Human Myotonia by Koch, Manuela C., Steinmeyer, Klaus, Lorenz, Claudius, Ricker, Kenneth, Wolf, Friedrich, Otto, Michael, Zoll, Barbara, Lehmann-Horn, Frank, Grzeschik, Karl-Heinz, Jentsch, Thomas J.

“…Autosomal recessive generalized myotonia (Becker's disease) (GM) and autosomal dominant myotonia congenita (Thomsen's disease) (MC) are characterized by…”
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Facioscapulohumeral muscular dystrophy. Phenotype-genotype correlation in patients with borderline D4Z4 repeat numbers by Butz, Miriam, Koch, Manuela C, Müller-Felber, Wolfgang, Lemmers, Richards J L F, van der Maarel, Silvère M, Schreiber, Herbert

“…Facioscapulohumeral muscular dystrophy (FSHD) is associated with a decreased number of D4Z4 repeats on chromosome 4q35. Diagnostic difficulties arise from…”
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Proximal myotonic myopathy : a new dominant disorder with myotonia, muscle weakness, and cataracts by RICKER, K, KOCH, M. C, LEHMANN-HORN, F, PONGRATZ, D, OTTO, M, HEINE, R, MOXLEY, R. T

“…We describe three families with a dominantly inherited disorder. Affected individuals have myotonia, proximal muscle weakness, and cataracts. There was no…”
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Mutations in dominant human myotonia congenita drastically alter the voltage dependence of the CIC-1 chloride channel by Pusch, M, Steinmeyer, K, Koch, M C, Jentsch, T J

“…Autosomal dominant myotonia congenita (Thomsen's disease) is caused by mutations in the muscle chloride channel CIC-1. Several point mutations found in…”
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Public, expert and patients' opinions on preimplantation genetic diagnosis (PGD) in Germany by Krones, Tanja, Schlüter, Elmar, Manolopoulos, Konstantin, Bock, Karin, Tinneberg, Hans-Rudolf, Koch, Manuela C, Lindner, Martin, Hoffmann, Georg F, Mayatepek, Ertan, Huels, Gerd, Neuwohner, Elke, Ansari, Susan El, Wissner, Thomas, Richter, Gerd

“…The regulation of reproductive medicine technologies differs significantly among Western industrialized countries. In Germany, preimplantation genetic…”
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Multimeric structure of ClC‐1 chloride channel revealed by mutations in dominant myotonia congenita (Thomsen) by Steinmeyer, K., Lorenz, C., Pusch, M., Koch, M.C., Jentsch, T.J.

“…Voltage‐gated ClC chloride channels play important roles in cell volume regulation, control of muscle excitability, and probably transepithelial transport. ClC…”
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Spectrum of mutations in the major human skeletal muscle chloride channel gene (CLCN1) leading to myotonia by MEYER-KLEINE, C, STEINMEYER, K, RICKER, K, JENTSCH, T. J, KOCH, M. C

“…Autosomal dominant myotonia congenita and autosomal recessive generalized myotonia (GM) are genetic disorders characterized by the symptom of myotonia, which…”
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Evidence for clinical and genetic heterogeneity of syndactyly type I: the phenotype of second and third toe syndactyly maps to chromosome 3p21.31 by MALIK, Sajid, SCHOTT, Jörg, WAJAHAT ALI, Syed, OEFFNER, Frank, AMIN-UD-DIN, Muhammad, AHMAD, Wasim, GRZESCHIK, Karl-Heinz, KOCH, Manuela C

“…There is good evidence from the medical literature that type I syndactyly, the most common form of the nonsyndromic syndactylies, is clinically heterogeneous…”
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Genetic heterogeneity of synpolydactyly: a novel locus SPD3 maps to chromosome 14q11.2-q12 by Malik, S, Abbasi, AA, Ansar, M, Ahmad, W, Koch, MC, Grzeschik, K-H

“…Syndactyly type II or synpolydactyly (SPD) is the second most frequent syndactyly type and is inherited in an autosomal dominant fashion. The cardinal features…”
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Correlation between fragment size at D4F104S1 and age at onset or at wheelchair use, with a possible generational effect, accounts for much phenotypic variation in 4q35-facioscapulohumeral muscular dystrophy (FSHD) by Lunt, P W, Jardine, P E, Koch, M C, Maynard, J, Osborn, M, Williams, M, Harper, P S, Upadhyaya, M

“…In facioscapulohumeral muscular dystrophy (FSHD), the wide range of clinical severity observed both within and between families has obscured past attempts to…”
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Linkage of proximal myotonic myopathy to chromosome 3q by RICKER, K, GRIMM, T, KOCH, M. C, SCHNEIDER, C, KRESS, W, REIMERS, C. D, SCHULTE-MATTLER, W, MUELLER-MYHSOK, B, TOYKA, K. V, MUELLER, C. R

“…We performed genetic linkage analysis in nine German proximal myotonic myopathy (PROMM) families using DNA-markers D3S1541 and D3S1589 from the region of the…”
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