Výsledky vyhledávání - Elisabeth Mangold

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  1. 1
    A genotype-phenotype correlation in HNPCC: strong predominance of msh2 mutations in 41 patients with Muir-Torre syndrome

    A genotype-phenotype correlation in HNPCC: strong predominance of msh2 mutations in 41 patients with Muir-Torre syndrome Autor Elisabeth Mangold

    Vydáno 2004
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  2. 2
    Maternal heterozygous NLRP7 variant results in recurrent reproductive failure and imprinting disturbances in the offspring

    Maternal heterozygous NLRP7 variant results in recurrent reproductive failure and imprinting disturbances in the offspring Autor Lukas Soellner, Matthias Begemann, Franziska Degenhardt, Annegret Geipel, Thomas Eggermann, Elisabeth Mangold

    Vydáno 2017
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  3. 3
    Frequency and parental origin of de novo APC mutations in familial adenomatous polyposis

    Frequency and parental origin of de novo APC mutations in familial adenomatous polyposis Autor Stefan Aretz, Siegfried Uhlhaas, Reiner Caspari, Elisabeth Mangold, Constanze Pagenstecher, Peter Propping, Waltraut Friedl

    Vydáno 2003
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  4. 4
    Hereditary nonpolyposis colorectal cancer: Frequent occurrence of large genomic deletions in <i>MSH2</i> and <i>MLH1</i> genes

    Hereditary nonpolyposis colorectal cancer: Frequent occurrence of large genomic deletions in <i>MSH2</i> and <i>MLH1</i> genes Autor Yaping Wang, Waltraut Friedl, Christof Lamberti, Matthias Jungck, Micaela Mathiak, Constanze Pagenstecher, Peter Propping, Elisabeth Mangold

    Vydáno 2002
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  5. 5
    Frequency of Microsatellite Instability in Unselected Sebaceous Gland Neoplasias and Hyperplasias

    Frequency of Microsatellite Instability in Unselected Sebaceous Gland Neoplasias and Hyperplasias Autor Roland Kruse, Nadine Schweiger, Eva Jakob, Thomas Ruzicka, Arno Rütten, Micaela Mathiak, Peter Propping, Elisabeth Mangold, Michele Bisceglia

    Vydáno 2003
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  6. 6
    <i>MUTYH</i>‐associated polyposis: 70 of 71 patients with biallelic mutations present with an attenuated or atypical phenotype

    <i>MUTYH</i>‐associated polyposis: 70 of 71 patients with biallelic mutations present with an attenuated or atypical phenotype Autor Stefan Aretz, Siegfried Uhlhaas, Heike Goergens, Kirsten Siberg, Matthias Vogel, Constanze Pagenstecher, Elisabeth Mangold, Reiner Caspari, Peter Propping, Waltraut Friedl

    Vydáno 2006
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  7. 7
    p63 establishes epithelial enhancers at critical craniofacial development genes

    p63 establishes epithelial enhancers at critical craniofacial development genes Autor Enrique Lin-Shiao, Yemin Lan, Julia Welzenbach, Katherine A. Alexander, Zhen Zhang, Michael Knapp, Elisabeth Mangold, Morgan A. Sammons, Kerstin U. Ludwig, Shelley L. Berger

    Vydáno 2019
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  8. 8
    Novel Insights Into the Phenotypical Spectrum of <i>KIF11</i>-Associated Retinopathy, Including a New Form of Retinal Ciliopathy

    Novel Insights Into the Phenotypical Spectrum of <i>KIF11</i>-Associated Retinopathy, Including a New Form of Retinal Ciliopathy Autor Johannes Birtel, Martin Gliem, Elisabeth Mangold, Lars Tebbe, Isabel Spier, Philipp L. Müller, Frank G. Holz, Christine Neuhaus, Uwe Wolfrum, Hanno J. Bolz, Peter Charbel Issa

    Vydáno 2017
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  9. 9
    High proportion of large genomic STK11 deletions in Peutz-Jeghers syndrome

    High proportion of large genomic STK11 deletions in Peutz-Jeghers syndrome Autor Stefan Aretz, Dietlinde Stienen, Siegfried Uhlhaas, Steffan Loff, Walter Back, Constanze Pagenstecher, D. Ross McLeod, Gail E. Graham, Elisabeth Mangold, René Santer, Peter Propping, Waltraut Friedl

    Vydáno 2005
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  10. 10
    Next-generation sequencing identifies unexpected genotype-phenotype correlations in patients with retinitis pigmentosa

    Next-generation sequencing identifies unexpected genotype-phenotype correlations in patients with retinitis pigmentosa Autor Johannes Birtel, Martin Gliem, Elisabeth Mangold, Philipp L. Müller, Frank G. Holz, Christine Neuhaus, Steffen Lenzner, Diana Zahnleiter, Christian Betz, Tobias Eisenberger, Hanno J. Bolz, Peter Charbel Issa

    Vydáno 2018
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  11. 11
    Lower Incidence of Colorectal Cancer and Later Age of Disease Onset in 27 Families With Pathogenic <i>MSH6</i> Germline Mutations Compared With Families With <i>MLH1</i> or <i>MSH2</i> Mutations: The German Hereditary Nonpolyposis Colorectal Cancer Consortium

    Lower Incidence of Colorectal Cancer and Later Age of Disease Onset in 27 Families With Pathogenic <i>MSH6</i> Germline Mutations Compared With Families With <i>MLH1</i> or <i>MSH2... Autor Jens Plaschke, Christoph Engel, Stefan Krüger, Elke Holinski‐Feder, Constanze Pagenstecher, Elisabeth Mangold, Gabriela Möslein, Karsten Schulmann, Johannes Gebert, Magnus von Knebel Doeberitz, Josef Rüschoff, Markus Loeffler, Hans K. Schackert

    Vydáno 2004
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  12. 12
    Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy

    Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy Autor Johannes Birtel, Tobias Eisenberger, Martin Gliem, Philipp L. Müller, Philipp Herrmann, Christian Betz, Diana Zahnleiter, Christine Neuhaus, Steffen Lenzner, Frank G. Holz, Elisabeth Mangold, Hanno J. Bolz, Peter Charbel Issa

    Vydáno 2018
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  13. 13
    Confirming genes influencing risk to cleft lip with/without cleft palate in a case–parent trio study

    Confirming genes influencing risk to cleft lip with/without cleft palate in a case–parent trio study Autor Terri H. Beaty, Margaret A. Taub, Alan F. Scott, Jeffrey C. Murray, Mary L. Marazita, Holger Schwender, Margaret M. Parker, Jacqueline B. Hetmanski, Poojitha Balakrishnan, M. Adela Mansilla, Elisabeth Mangold, Kerstin U. Ludwig, Markus M. Nöethen, Michele Rubini, Nursel Elcioğlu, Ingo Ruczinski

    Vydáno 2013
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  14. 14
    HNPCC-associated small bowel cancer: Clinical and molecular characteristics

    HNPCC-associated small bowel cancer: Clinical and molecular characteristics Autor Karsten Schulmann, Frank Brasch, Erdmute Kunstmann, Christoph Engel, Constanze Pagenstecher, H. Vogelsang, Stefan Krüger, Tilman Vogel, Hanns-Peter Knaebel, Josef Rüschoff, Stephan A. Hahn, Magnus von Knebel Doeberitz, Gabriela Möslein, Stephen J. Meltzer, Hans K. Schackert, Christiane Tympner, Elisabeth Mangold, Wolff Schmiegel

    Vydáno 2005
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  15. 15
    Investigating the shared genetics of non-syndromic cleft lip/palate and facial morphology

    Investigating the shared genetics of non-syndromic cleft lip/palate and facial morphology Autor Laurence J Howe, Myoung Keun Lee, Gemma C. Sharp, George Davey Smith, Beaté St Pourcain, John R. Shaffer, Kerstin U. Ludwig, Elisabeth Mangold, Mary L. Marazita, Eleanor Feingold, Alexei I. Zhurov, Evie Stergiakouli, Jonathan Sandy, Stephen Richmond, Seth M. Weinberg, Gibran Hemani, Sarah J. Lewis

    Vydáno 2018
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  16. 16
    Meta-analysis Reveals Genome-Wide Significance at 15q13 for Nonsyndromic Clefting of Both the Lip and the Palate, and Functional Analyses Implicate GREM1 As a Plausible Causative Gene

    Meta-analysis Reveals Genome-Wide Significance at 15q13 for Nonsyndromic Clefting of Both the Lip and the Palate, and Functional Analyses Implicate GREM1 As a Plausible Causative G... Autor Kerstin U. Ludwig, Syeda Ahmed, Anne C. Böhmer, Nasim Bahram Sangani, Sheryil Varghese, Johanna Klamt, Hannah Schuenke, Pınar Gültepe, Andrea Hofmann, Michele Rubini, Khalid Aldhorae, Régine P.M. Steegers‐Theunissen, Augusto Rojas‐Martínez, Rudolf Reiter, Guntram Borck, Michael Knapp, Mitsushiro Nakatomi, Daniel Graf, Elisabeth Mangold, Heiko Peters

    Vydáno 2016
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  17. 17
    Imputation of Orofacial Clefting Data Identifies Novel Risk Loci and Sheds Light on the Genetic Background of Cleft Lip ± Cleft Palate and Cleft Palate Only.

    Imputation of Orofacial Clefting Data Identifies Novel Risk Loci and Sheds Light on the Genetic Background of Cleft Lip ± Cleft Palate and Cleft Palate Only. Autor Kerstin U. Ludwig, Anne C. Böhmer, John Bowes, Miloš Nikolić, Nina Ishorst, Niki Wyatt, Nigel L. Hammond, Lina Gölz, Frederic Thieme, Sandra Barth, Hannah Schuenke, Johanna Klamt, Malte Spielmann, Khalid Aldhorae, Augusto Rojas-Martı́nez, Markus M. Nöthen, Álvaro Rada-Iglesias, Michael J. Dixon, Michael Knapp, Elisabeth Mangold

    Vydáno 2017
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  18. 18
    DNA methylation mediates genetic liability to non-syndromic cleft lip/palate

    DNA methylation mediates genetic liability to non-syndromic cleft lip/palate Autor Laurence J Howe, Tom G. Richardson, Ryan Arathimos, Lucas Alvizi, Maria-Rita Passos-Bueno, Philip Stanier, Ellen A. Nøhr, Kerstin U. Ludwig, Elisabeth Mangold, Michael Knapp, Evie Stergiakouli, Beaté St Pourcain, George Davey Smith, Jonathan Sandy, Caroline L. Relton, Sarah J. Lewis, Gibran Hemani, Gemma C. Sharp

    Vydáno 2018
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  19. 19
    Evidence for DNA Methylation Mediating Genetic Liability to Non-Syndromic Cleft Lip/Palate

    Evidence for DNA Methylation Mediating Genetic Liability to Non-Syndromic Cleft Lip/Palate Autor Laurence J Howe, Tom G. Richardson, Ryan Arathimos, Lucas Alvizi, Maria Rita Passos‐Bueno, Philip Stanier, Ellen A. Nøhr, Kerstin U. Ludwig, Elisabeth Mangold, Michael Knapp, Evie Stergiakouli, Beaté St Pourcain, George Davey Smith, Jonathan Sandy, Caroline L. Relton, Sarah J. Lewis, Gibran Hemani, Gemma C. Sharp

    Vydáno 2019
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  20. 20
    Genome-wide Association Study and Meta-Analysis Identify ISL1 as Genome-wide Significant Susceptibility Gene for Bladder Exstrophy

    Genome-wide Association Study and Meta-Analysis Identify ISL1 as Genome-wide Significant Susceptibility Gene for Bladder Exstrophy Autor Markus Draaken, Michael Knapp, Tracie Pennimpede, Johanna Magdalena Schmidt, Anne‐Karolin Ebert, Wolfgang Rösch, Raimund Stein, Boris Utsch, Karin Hirsch, Thomas M. Boemers, Elisabeth Mangold, Stefanie Heilmann‐Heimbach, Kerstin U. Ludwig, Ekkehart Jenetzky, Nadine Zwink, Susanne Moebus, Bernhard G. Herrmann, Manuel Mattheisen, Markus M. Nöthen, Michael Ludwig, Heiko Reutter

    Vydáno 2015
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