Search Results - "Hofmann, Wera"

The influence of low molecular weight heparin medication on plasma DNA in pregnant women by Grömminger, Sebastian, Erkan, Sanli, Schöck, Ulrike, Stangier, Kerstin, Bonnet, Joachim, Schloo, Rüdiger, Schubert, Angela, Prott, Eva-Christina, Knoll, Ute, Stumm, Markus, von Kalle, Christof, Hofmann, Wera

“…What's already known about this topic? Until today the fetal fraction in cell‐free maternal plasma DNA is the most critical determinant for a successful NIPT…”
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Suppression of polyploidy by the BRCA2 protein by Sagulenko, Evgeny, Savelyeva, Larissa, Ehemann, Volker, Sagulenko, Vitaliya, Hofmann, Wera, Arnold, Katrin, Claas, Andreas, Scherneck, Siegfried, Schwab, Manfred

“…Abstract Mounting evidence implicates BRCA2 not only in maintenance of genome integrity but also in cell-cycle checkpoints. However, the contribution of BRCA2…”
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Genetic testing: new challenges in the healthcare of women by Hofmann, Wera

“…Dr Wera Hofmann is an expert in biochemistry and has over 12 years of human genetic diagnostics experience. Until 2006, she supervised a diagnostic unit for…”
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Purification of Circulating Cell-Free DNA from Plasma and Urine Using the Automated Large-Volume Extraction on the QIAsymphony® SP Instrument by Wolf, Alexander, Beller, Katharina, Groemminger, Sebastian, Hofmann, Wera, Sachse, Matthias, Fassunke, Jana

“…Increasing sample numbers for screening and diagnostics using circulating cell-free DNA (ccfDNA) as analyte demands an automated solution for ccfDNA…”
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Common Breast Cancer-Predisposition Alleles Are Associated with Breast Cancer Risk in BRCA1 and BRCA2 Mutation Carriers by Antoniou, Antonis C., Spurdle, Amanda B., Sinilnikova, Olga M., Healey, Sue, Pooley, Karen A., Schmutzler, Rita K., Versmold, Beatrix, Engel, Christoph, Meindl, Alfons, Arnold, Norbert, Hofmann, Wera, Sutter, Christian, Niederacher, Dieter, Deissler, Helmut, Caldes, Trinidad, Kämpjärvi, Kati, Nevanlinna, Heli, Simard, Jacques, Beesley, Jonathan, Chen, Xiaoqing, Neuhausen, Susan L., Rebbeck, Timothy R., Wagner, Theresa, Lynch, Henry T., Isaacs, Claudine, Weitzel, Jeffrey, Ganz, Patricia A., Daly, Mary B., Tomlinson, Gail, Olopade, Olufunmilayo I., Blum, Joanne L., Couch, Fergus J., Peterlongo, Paolo, Manoukian, Siranoush, Barile, Monica, Radice, Paolo, Szabo, Csilla I., Pereira, Lutecia H. Mateus, Greene, Mark H., Rennert, Gad, Lejbkowicz, Flavio, Barnett-Griness, Ofra, Andrulis, Irene L., Ozcelik, Hilmi, Gerdes, Anne-Marie, Caligo, Maria A., Laitman, Yael, Kaufman, Bella, Milgrom, Roni, Friedman, Eitan, Domchek, Susan M., Nathanson, Katherine L., Osorio, Ana, Llort, Gemma, Milne, Roger L., Benítez, Javier, Hamann, Ute, Hogervorst, Frans B.L., Manders, Peggy, Ligtenberg, Marjolijn J.L., van den Ouweland, Ans M.W., Peock, Susan, Cook, Margaret, Platte, Radka, Evans, D. Gareth, Eeles, Rosalind, Pichert, Gabriella, Chu, Carol, Eccles, Diana, Davidson, Rosemarie, Douglas, Fiona, Godwin, Andrew K., Barjhoux, Laure, Mazoyer, Sylvie, Sobol, Hagay, Bourdon, Violaine, Eisinger, François, Chompret, Agnès, Capoulade, Corinne, Bressac-de Paillerets, Brigitte, Lenoir, Gilbert M., Gauthier-Villars, Marion, Houdayer, Claude, Stoppa-Lyonnet, Dominique, Chenevix-Trench, Georgia, Easton, Douglas F.

“…Germline mutations in BRCA1 and BRCA2 confer high risks of breast cancer. However, evidence suggests that these risks are modified by other genetic or…”
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Genetic testing: new challenges in the healthcare of women. Interview by Hannah Branch by Hofmann, Wera, Branch, Hannah

“…Dr Wera Hofmann is an expert in biochemistry and has over 12 years of human genetic diagnostics experience. Until 2006, she supervised a diagnostic unit for…”
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Fetal Aneuploidy Detection by Cell-Free DNA Sequencing for Multiple Pregnancies and Quality Issues with Vanishing Twins by Grömminger, Sebastian, Yagmur, Erbil, Erkan, Sanli, Nagy, Sándor, Schöck, Ulrike, Bonnet, Joachim, Smerdka, Patricia, Ehrich, Mathias, Wegner, Rolf-Dieter, Hofmann, Wera, Stumm, Markus

“…Non-invasive prenatal testing (NIPT) by random massively parallel sequencing of maternal plasma DNA for multiple pregnancies is a promising new option for…”
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Evaluation of BRCA1/2 mutational status among German and Austrian women with triple-negative breast cancer by Muendlein, Axel, Rohde, Bettina H., Gasser, Klaus, Haid, Anton, Rauch, Stephanie, Kinz, Elena, Drexel, Heinz, Hofmann, Wera, Schindler, Verena, Kapoor, Rita, Decker, Thomas, Lang, Alois H.

“…Purpose Testing for BRCA1 and BRCA2 mutations in breast cancer patients is used to identify the risk of second primary cancers and the risk of cancer in the…”
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Prospects and challenges for the genetic counsellor profession in the German-speaking countries: report of a workshop by Schwaninger, Gunda, Heidemann, Simone, Hofmann, Wera, Maurer, Tamara, Mayerhanser, Katharina, Ronez, Joelle, Schüler, Herdit, Steinmüller, Katharina, Rudnik-Schöneborn, Sabine, Zschocke, Johannes

“…The genetic counsellor profession has not yet been established in the German-speaking countries. In 2019 the Medical University of Innsbruck inaugurated the…”
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Evaluation of BRCA1 /2 mutation status among women with triple-negative breast cancer by Muendlein, Axel, Rhode, Bettina, Gasser, Klaus, Kinz, Elena, Drexel, Heinz, Hofmann, Wera, Schindler, Verena, Kapoor, Rita, Decker, Thomas, Lang, Alois

“…Abstract only…”
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Diagnostic accuracy of random massively parallel sequencing for non-invasive prenatal detection of common autosomal aneuploidies: a collaborative study in Europe by Stumm, Markus, Entezami, Michael, Haug, Karsten, Blank, Cornelia, Wüstemann, Max, Schulze, Bernt, Raabe-Meyer, Gisela, Hempel, Maja, Schelling, Markus, Ostermayer, Eva, Langer-Freitag, Sabine, Burkhardt, Tilo, Zimmermann, Roland, Schleicher, Tina, Weil, Bernd, Schöck, Ulrike, Smerdka, Patricia, Grömminger, Sebastian, Kumar, Yadhu, Hofmann, Wera

“…ABSTRACT Objective The objective of this study is to validate the diagnostic accuracy of a non‐invasive prenatal test for detecting trisomies 13, 18, and 21…”
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Noninvasive prenatal detection of chromosomal aneuploidies using different next generation sequencing strategies and algorithms by Stumm, Markus, Entezami, Michael, Trunk, Nastasja, Beck, Martina, Löcherbach, Julia, Wegner, Rolf-Dieter, Hagen, Andreas, Becker, Rolf, Hofmann, Wera

“…ABSTRACT Objective Here we describe the successful application of massively parallel sequencing for noninvasive prenatal detection of trisomy 21. In addition,…”
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Non-invasive prenatal diagnosis using massively parallel sequencing - first experience in Germany by Wegner, Rolf-Dieter, Stumm, Markus, Hofmann, Wera

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The influence of low molecular weight heparin medication on plasma DNA in pregnant women: Influence of heparin medication on NIPT by Grömminger, Sebastian, Erkan, Sanli, Schöck, Ulrike, Stangier, Kerstin, Bonnet, Joachim, Schloo, Rüdiger, Schubert, Angela, Prott, Eva-Christina, Knoll, Ute, Stumm, Markus, von Kalle, Christof, Hofmann, Wera

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Large BRCA1 gene deletions are found in 3% of German high-risk breast cancer families by Hartmann, Carolin, John, Anika L., Klaes, Rüdiger, Hofmann, Wera, Bielen, Rainer, Koehler, Rolf, Janssen, Bart, Bartram, Claus R., Arnold, Norbert, Zschocke, Johannes

“…We have tested for large BRCA1 gene rearrangements in German high‐risk breast and ovarian cancer families previously screened negative for point mutations by…”
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Diagnostic accuracy of random massively parallel sequencing for non-invasive prenatal detection of common autosomal aneuploidies: a collaborative study in Europe: Massively parallel sequencing for non-invasive detection of fetal aneuploidies by Stumm, Markus, Entezami, Michael, Haug, Karsten, Blank, Cornelia, Wüstemann, Max, Schulze, Bernt, Raabe-Meyer, Gisela, Hempel, Maja, Schelling, Markus, Ostermayer, Eva, Langer-Freitag, Sabine, Burkhardt, Tilo, Zimmermann, Roland, Schleicher, Tina, Weil, Bernd, Schöck, Ulrike, Smerdka, Patricia, Grömminger, Sebastian, Kumar, Yadhu, Hofmann, Wera

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Limited relevance of the CHEK2 gene in hereditary breast cancer by Dufault, Michael R., Betz, Beate, Wappenschmidt, Barbara, Hofmann, Wera, Bandick, Katrin, Golla, Astrid, Pietschmann, Andrea, Nestle‐Krämling, Caroline, Rhiem, Kerstin, Hüttner, Christine, von Lindern, Celia, Dall, Peter, Kiechle, Marion, Untch, Michael, Jonat, Walter, Meindl, Alfons, Scherneck, Siegfried, Niederacher, Dieter, Schmutzler, Rita K., Arnold, Norbert

“…To establish the importance of CHEK2 mutations for familial breast cancer incidence in the German population, we have screened all 14 of the coding exons in…”
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Correction: Grömminger, S., et al. Fetal Aneuploidy Detection by Cell-Free DNA Sequencing for Multiple Pregnancies and Quality Issues with Vanishing Twins. J. Clin. Med. 2014, 3, 679-692 by Grömminger, Sebastian, Yagmur, Erbil, Erkan, Sanli, Nagy, Sándor, Schöck, Ulrike, Bonnet, Joachim, Smerdka, Patricia, Ehrich, Mathias, Wegner, Rolf-Dieter, Hofmann, Wera, Stumm, Markus

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Screening for large rearrangements of the BRCA1 gene in German breast or ovarian cancer families using semi-quantitative multiplex PCR method by Hofmann, Wera, Görgens, Heike, John, Anika, Horn, Denise, Hüttner, Christine, Arnold, Norbert, Scherneck, Siegfried, Schackert, Hans K.

“…Since the identification of the breast and ovarian cancer susceptibility genes BRCA1 and BRCA2, a large number of different germline mutations in both genes…”
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Mutation analysis of BRCA1 and BRCA2 genes in iranian high risk breast cancer families by PIETSCHMANN, Andrea, MEHDIPOUR, Parvin, ATRI, Morteza, HOFMANN, Wera, SAID HOSSEINI-ASL, S, SCHERNECK, Siegfried, MUNDLOS, Stefan, PETERS, Hartmut

“…Germline mutations in either BRCA1 or BRCA2 genes are responsible for the majority of hereditary breast and ovarian cancers. At present, over thousand distinct…”
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