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BMC MED GENET

Bibliographical data

ISSNs1471-2350
Electronic ISSN 1471-2350

Publications

Novel likely pathogenic variants in TMEM126A identified in non-syndromic autosomal recessive optic atrophy: two case reports
Kloth, K., Synofzik, M., Kernstock, C., Schimpf-Linzenbold, S., Schuettauf, F., Neu, A., Wissinger, B. & Weisschuh, N., 08.04.2019, In: BMC MED GENET. 20, 1, p. 62

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First case report of malignant peritoneal mesothelioma and oral verrucous carcinoma in a patient with a germline PTEN mutation: a combination of extremely rare diseases with probable further implications
Löffler, M. W., Steinhilber, J., Hilke, F. J., Haen, S. P., Bösmüller, H., Montes-Mojarro, I-A., Bonzheim, I., Stäbler, A., Faust, U., Grasshoff, U., Königsrainer, I., Rammensee, H-G., Kanz, L., Königsrainer, A., Beckert, S., Riess, O. & Schroeder, C., 15.08.2018, In: BMC MED GENET. 19, 1, p. 144

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Phenotype and genotype in patients with Larsen syndrome: clinical homogeneity and allelic heterogeneity in seven patients
Girisha, K. M., Bidchol, A. M., Graul-Neumann, L., Gupta, A., Hehr, U., Lessel, D., Nader, S., Shah, H., Wickert, J. & Kutsche, K., 2016, In: BMC MED GENET. 17, p. 27

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Keratinocytic epidermal nevus syndrome with Schwann cell proliferation, lipomatous tumour and mosaic KRAS mutation
Farschtschi, S., Mautner, V-F., Hollants, S., Hagel, C., Spaepen, M., Schulte, C., Legius, E. & Brems, H., 01.01.2015, In: BMC MED GENET. 16, 1, p. 6

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Expanded spectrum of exon 33 and 34 mutations in SRCAP and follow-up in patients with Floating-Harbor syndrome
Seifert, W., Meinecke, P., Krüger, G., Rossier, E., Heinritz, W., Wüsthof, A. & Horn, D., 2014, In: BMC MED GENET. 15, p. 127

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Association of soluble endothelial protein C receptor plasma levels and PROCR rs867186 with cardiovascular risk factors and cardiovascular events in coronary artery disease patients: the Athero Gene study
Kallel, C., Cohen, W., Saut, N., Blankenberg, S., Schnabel, R., Rupprecht, H. J., Bickel, C., Munzel, T., Tregouet, D-A. & Morange, P-E., 08.11.2012, In: BMC MED GENET. 13, p. 103

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Non-coding RNA ANRIL and the number of plexiform neurofibromas in patients with NF1 microdeletions.
Mußotter, T., Kluwe, L., Högel, J., Nguyen, R., Cooper, D. N., Mautner, V. F. & Kehrer-Sawatzki, H., 2012, In: BMC MED GENET. 13, p. 98

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Pitfalls in mutational testing and reporting of common KIT and PDGFRA mutations in gastrointestinal stromal tumors.
Merkelbach-Bruse, S., Dietmaier, W., Füzesi, L., Gaumann, A., Haller, F., Kitz, J., Krohn, A., Mechtersheimer, G., Penzel, R., Schildhaus, H-U., Schneider-Stock, R., Simon, R. & Wardelmann, E., 2010, In: BMC MED GENET. 11, p. 106

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Genetic variation in Fc gamma receptor IIa and risk of coronary heart disease: negative results from two large independent populations
Karakas, M., Hoffmann, M. M., Vollmert, C., Rothenbacher, D., Meisinger, C., Winkelmann, B., Khuseyinova, N., Böhm, B. O., Illig, T., März, W. & Koenig, W., 29.05.2009, In: BMC MED GENET. 10, 46.

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Association between variations in the TLR4 gene and incident type 2 diabetes is modified by the ratio of total cholesterol to HDL-cholesterol
Kolz, M., Baumert, J., Müller, M., Khuseyinova, N., Klopp, N., Thorand, B., Meisinger, C., Herder, C., Koenig, W. & Illig, T., 25.02.2008, In: BMC MED GENET. 9, 9.

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