检索结果 - Tinschert, Sigrid

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

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

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

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

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

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A misplaced lncRNA causes brachydactyly in humans 由 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

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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 由 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

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Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2 由 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

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Reorganization of inter‐chromosomal interactions in the 2q37‐deletion syndrome 由 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

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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... 由 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

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MIA is a potential biomarker for tumour load in neurofibromatosis type 1 由 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

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Double NF1 Inactivation Affects Adrenocortical Function in NF1Prx1 Mice and a Human Patient 由 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

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Mutations in the Glycosylphosphatidylinositol Gene PIGL Cause CHIME Syndrome 由 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.

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Somatic neurofibromatosis type 1 (NF1) inactivation events in cutaneous neurofibromas of a single NF1 patient 由 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

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

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Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1 由 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

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Multiscale, Converging Defects of Macro-Porosity, Microstructure and Matrix Mineralization Impact Long Bone Fragility in NF1 由 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

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

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Mutations in CKAP2L, the Human Homolog of the Mouse Radmis Gene, Cause Filippi Syndrome 由 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

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

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