Search Results - Tinschert, Sigrid

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  1. 1
    Molecular Characterization and Gene Content of Breakpoint Boundaries in Patients with Neurofibromatosis Type 1 with 17q11.2 Microdeletions

    Molecular Characterization and Gene Content of Breakpoint Boundaries in Patients with Neurofibromatosis Type 1 with 17q11.2 Microdeletions by Jenne, Dieter E., Tinschert, Sigrid, Reimann, Heike, Lasinger, Wolfgang, Thiel, Gundula, Hameister, Horst, Kehrer-Sawatzki, Hildegard

    Published 2001
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  2. 2
    Differential MSH2 promoter methylation in blood cells of Neurofibromatosis type 1 (NF1) patients

    Differential MSH2 promoter methylation in blood cells of Neurofibromatosis type 1 (NF1) patients by Titze, Sabrina, Peters, Hartmut, Währisch, Sandra, Harder, Thomas, Guse, Katrin, Buske, Annegret, Tinschert, Sigrid, Harder, Anja

    Published 2010
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  3. 3
    Differential MSH2 promoter methylation in blood cells of Neurofibromatosis type 1 (NF1) patients

    Differential MSH2 promoter methylation in blood cells of Neurofibromatosis type 1 (NF1) patients by Titze, Sabrina, Peters, Hartmut, Währisch, Sandra, Harder, Thomas, Guse, Katrin, Buske, Annegret, Tinschert, Sigrid, Harder, Anja

    Published 2010
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  4. 4
    Distinct Mutations in the Receptor Tyrosine Kinase Gene ROR2 Cause Brachydactyly Type B

    Distinct Mutations in the Receptor Tyrosine Kinase Gene ROR2 Cause Brachydactyly Type B by Schwabe, Georg C., Tinschert, Sigrid, Buschow, Christian, Meinecke, Peter, Wolff, Gerhard, Gillessen-Kaesbach, Gabriele, Oldridge, Michael, Wilkie, Andrew O. M., Kömec, Reyhan, Mundlos, Stefan

    Published 2000
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  5. 5
    A cis-regulatory site downregulates PTHLH in translocation t(8;12)(q13;p11.2) and leads to Brachydactyly Type E

    A cis-regulatory site downregulates PTHLH in translocation t(8;12)(q13;p11.2) and leads to Brachydactyly Type E by Maass, Philipp G., Wirth, Jutta, Aydin, Atakan, Rump, Andreas, Stricker, Sigmar, Tinschert, Sigrid, Otero, Miguel, Tsuchimochi, Kaneyuki, Goldring, Mary B., Luft, Friedrich C., Bähring, Sylvia

    Published 2010
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  6. 6
    A misplaced lncRNA causes brachydactyly in humans

    A misplaced lncRNA causes brachydactyly in humans by Maass, Philipp G., Rump, Andreas, Schulz, Herbert, Stricker, Sigmar, Schulze, Lisanne, Platzer, Konrad, Aydin, Atakan, Tinschert, Sigrid, Goldring, Mary B., Luft, Friedrich C., Bähring, Sylvia

    Published 2012
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  7. 7
    Minor Lesion Mutational Spectrum of the Entire NF1 Gene Does Not Explain Its High Mutability but Points to a Functional Domain Upstream of the GAP-Related Domain

    Minor Lesion Mutational Spectrum of the Entire NF1 Gene Does Not Explain Its High Mutability but Points to a Functional Domain Upstream of the GAP-Related Domain by Fahsold, Raimund, Hoffmeyer, Sven, Mischung, Claudia, Gille, Christoph, Ehlers, Christian, Kücükceylan, Nazan, Abdel-Nour, Maher, Gewies, Andreas, Peters, Hartmut, Kaufmann, Dieter, Buske, Annegret, Tinschert, Sigrid, Nürnberg, Peter

    Published 2000
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  8. 8
    Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2

    Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2 by Lehmann, Katarina, Seemann, Petra, Stricker, Sigmar, Sammar, Marai, Meyer, Birgit, Süring, Katrin, Majewski, Frank, Tinschert, Sigrid, Grzeschik, Karl-Heinz, Müller, Dietmar, Knaus, Petra, Nürnberg, Peter, Mundlos, Stefan

    Published 2003
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  9. 9
    Reorganization of inter‐chromosomal interactions in the 2q37‐deletion syndrome

    Reorganization of inter‐chromosomal interactions in the 2q37‐deletion syndrome by Maass, Philipp G, Weise, Anja, Rittscher, Katharina, Lichtenwald, Julia, Barutcu, A Rasim, Liehr, Thomas, Aydin, Atakan, Wefeld‐Neuenfeld, Yvette, Pölsler, Laura, Tinschert, Sigrid, Rinn, John L, Luft, Friedrich C, Bähring, Sylvia

    Published 2018
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  10. 10
    Meta-Analysis of Genome-Wide Association Studies and Network Analysis-Based Integration with Gene Expression Data Identify New Suggestive Loci and Unravel a Wnt-Centric Network Associated with Dupuytren’s Disease

    Meta-Analysis of Genome-Wide Association Studies and Network Analysis-Based Integration with Gene Expression Data Identify New Suggestive Loci and Unravel a Wnt-Centric Network Ass... by Becker, Kerstin, Siegert, Sabine, Toliat, Mohammad Reza, Du, Juanjiangmeng, Casper, Ramona, Dolmans, Guido H., Werker, Paul M., Tinschert, Sigrid, Franke, Andre, Gieger, Christian, Strauch, Konstantin, Nothnagel, Michael, Nürnberg, Peter, Hennies, Hans Christian

    Published 2016
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  11. 11
    MIA is a potential biomarker for tumour load in neurofibromatosis type 1

    MIA is a potential biomarker for tumour load in neurofibromatosis type 1 by Kolanczyk, Mateusz, Mautner, Victor, Kossler, Nadine, Nguyen, Rosa, Kühnisch, Jirko, Zemojtel, Tomasz, Jamsheer, Aleksander, Wegener, Eike, Thurisch, Boris, Tinschert, Sigrid, Holtkamp, Nikola, Park, Su-Jin, Birch, Patricia, Kendler, David, Harder, Anja, Mundlos, Stefan, Kluwe, Lan

    Published 2011
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  12. 12
    Double NF1 Inactivation Affects Adrenocortical Function in NF1Prx1 Mice and a Human Patient

    Double NF1 Inactivation Affects Adrenocortical Function in NF1Prx1 Mice and a Human Patient by Kobus, Karolina, Hartl, Daniela, Ott, Claus Eric, Osswald, Monika, Huebner, Angela, von der Hagen, Maja, Emmerich, Denise, Kühnisch, Jirko, Morreau, Hans, Hes, Frederik J., Mautner, Victor F., Harder, Anja, Tinschert, Sigrid, Mundlos, Stefan, Kolanczyk, Mateusz

    Published 2015
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  13. 13
    Mutations in the Glycosylphosphatidylinositol Gene PIGL Cause CHIME Syndrome

    Mutations in the Glycosylphosphatidylinositol Gene PIGL Cause CHIME Syndrome by Ng, Bobby G., Hackmann, Karl, Jones, Melanie A., Eroshkin, Alexey M., He, Ping, Wiliams, Roy, Bhide, Shruti, Cantagrel, Vincent, Gleeson, Joseph G., Paller, Amy S., Schnur, Rhonda E., Tinschert, Sigrid, Zunich, Janice, Hegde, Madhuri R., Freeze, Hudson H.

    Published 2012
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  14. 14
    Somatic neurofibromatosis type 1 (NF1) inactivation events in cutaneous neurofibromas of a single NF1 patient

    Somatic neurofibromatosis type 1 (NF1) inactivation events in cutaneous neurofibromas of a single NF1 patient by Emmerich, Denise, Zemojtel, Tomasz, Hecht, Jochen, Krawitz, Peter, Spielmann, Malte, Kühnisch, Jirko, Kobus, Karolina, Osswald, Monika, Heinrich, Verena, Berlien, Peter, Müller, Ute, Mautner, Victor-F, Wimmer, Katharina, Robinson, Peter N, Vingron, Martin, Tinschert, Sigrid, Mundlos, Stefan, Kolanczyk, Mateusz

    Published 2015
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  15. 15
    A Homozygous Mutation in the Tight-Junction Protein JAM3 Causes Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Congenital Cataracts

    A Homozygous Mutation in the Tight-Junction Protein JAM3 Causes Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Congenital Cataracts by Mochida, Ganeshwaran H., Ganesh, Vijay S., Felie, Jillian M., Gleason, Danielle, Hill, R. Sean, Clapham, Katie Rose, Rakiec, Daniel, Tan, Wen-Hann, Akawi, Nadia, Al-Saffar, Muna, Partlow, Jennifer N., Tinschert, Sigrid, Barkovich, A. James, Ali, Bassam, Al-Gazali, Lihadh, Walsh, Christopher A.

    Published 2010
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  16. 16
    Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1

    Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1 by Gregor, Anne, Albrecht, Beate, Bader, Ingrid, Bijlsma, Emilia K, Ekici, Arif B, Engels, Hartmut, Hackmann, Karl, Horn, Denise, Hoyer, Juliane, Klapecki, Jakub, Kohlhase, Jürgen, Maystadt, Isabelle, Nagl, Sandra, Prott, Eva, Tinschert, Sigrid, Ullmann, Reinhard, Wohlleber, Eva, Woods, Geoffrey, Reis, André, Rauch, Anita, Zweier, Christiane

    Published 2011
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  17. 17
    Multiscale, Converging Defects of Macro-Porosity, Microstructure and Matrix Mineralization Impact Long Bone Fragility in NF1

    Multiscale, Converging Defects of Macro-Porosity, Microstructure and Matrix Mineralization Impact Long Bone Fragility in NF1 by Kühnisch, Jirko, Seto, Jong, Lange, Claudia, Schrof, Susanne, Stumpp, Sabine, Kobus, Karolina, Grohmann, Julia, Kossler, Nadine, Varga, Peter, Osswald, Monika, Emmerich, Denise, Tinschert, Sigrid, Thielemann, Falk, Duda, Georg, Seifert, Wenke, el Khassawna, Thaqif, Stevenson, David A., Elefteriou, Florent, Kornak, Uwe, Raum, Kay, Fratzl, Peter, Mundlos, Stefan, Kolanczyk, Mateusz

    Published 2014
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  18. 18
    Modifier Genes in Microcephaly: A Report on WDR62, CEP63, RAD50 and PCNT Variants Exacerbating Disease Caused by Biallelic Mutations of ASPM and CENPJ

    Modifier Genes in Microcephaly: A Report on WDR62, CEP63, RAD50 and PCNT Variants Exacerbating Disease Caused by Biallelic Mutations of ASPM and CENPJ by Makhdoom, Ehtisham Ul Haq, Waseem, Syeda Seema, Iqbal, Maria, Abdullah, Uzma, Hussain, Ghulam, Asif, Maria, Budde, Birgit, Höhne, Wolfgang, Tinschert, Sigrid, Saadi, Saadia Maryam, Yousaf, Hammad, Ali, Zafar, Fatima, Ambrin, Kaygusuz, Emrah, Khan, Ayaz, Jameel, Muhammad, Khan, Sheraz, Tariq, Muhammad, Anjum, Iram, Altmüller, Janine, Thiele, Holger, Höning, Stefan, Baig, Shahid Mahmood, Nürnberg, Peter, Hussain, Muhammad Sajid

    Published 2021
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  19. 19
    Mutations in CKAP2L, the Human Homolog of the Mouse Radmis Gene, Cause Filippi Syndrome

    Mutations in CKAP2L, the Human Homolog of the Mouse Radmis Gene, Cause Filippi Syndrome by Hussain, Muhammad Sajid, Battaglia, Agatino, Szczepanski, Sandra, Kaygusuz, Emrah, Toliat, Mohammad Reza, Sakakibara, Shin-ichi, Altmüller, Janine, Thiele, Holger, Nürnberg, Gudrun, Moosa, Shahida, Yigit, Gökhan, Beleggia, Filippo, Tinschert, Sigrid, Clayton-Smith, Jill, Vasudevan, Pradeep, Urquhart, Jill E., Donnai, Dian, Fryer, Alan, Percin, Ferda, Brancati, Francesco, Dobbie, Angus, Śmigiel, Robert, Gillessen-Kaesbach, Gabriele, Wollnik, Bernd, Noegel, Angelika Anna, Newman, William G., Nürnberg, Peter

    Published 2014
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  20. 20
    High mutation detection rates in cerebral cavernous malformation upon stringent inclusion criteria: one-third of probands are minors

    High mutation detection rates in cerebral cavernous malformation upon stringent inclusion criteria: one-third of probands are minors by Spiegler, Stefanie, Najm, Juliane, Liu, Jian, Gkalympoudis, Stephanie, Schröder, Winnie, Borck, Guntram, Brockmann, Knut, Elbracht, Miriam, Fauth, Christine, Ferbert, Andreas, Freudenberg, Leonie, Grasshoff, Ute, Hellenbroich, Yorck, Henn, Wolfram, Hoffjan, Sabine, Hüning, Irina, Korenke, G Christoph, Kroisel, Peter M, Kunstmann, Erdmute, Mair, Martina, Munk-Schulenburg, Susanne, Nikoubashman, Omid, Pauli, Silke, Rudnik-Schöneborn, Sabine, Sudholt, Irene, Sure, Ulrich, Tinschert, Sigrid, Wiednig, Michaela, Zoll, Barbara, Ginsberg, Mark H, Felbor, Ute

    Published 2014
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