检索结果 - Kristina Lagerstedt‐Robinson

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  1. 1
    COX-2 gene expression in colon cancer tissue related to regulating factors and promoter methylation status

    COX-2 gene expression in colon cancer tissue related to regulating factors and promoter methylation status 由 Annika Gustafsson Asting, Helena Carén, Marianne Andersson, Christina Lönnroth, Kristina Lagerstedt‐Robinson, Kent Lundholm

    出版 2011
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  2. 2
    FGFR2, FGF8, FGF10 and BMP7 as candidate genes for hypospadias

    FGFR2, FGF8, FGF10 and BMP7 as candidate genes for hypospadias 由 Ana Beleza‐Meireles, Fredrik Lundberg, Kristina Lagerstedt‐Robinson, Xiaolei Zhou, Davood Omrani, Louise Frisén, Agneta Nordenskjöld

    出版 2007
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  3. 3
    Parafibromin immunostainings of parathyroid tumors in clinical routine: a near-decade experience from a tertiary center

    Parafibromin immunostainings of parathyroid tumors in clinical routine: a near-decade experience from a tertiary center 由 C. Christofer Juhlin, Inga‐Lena Nilsson, Kristina Lagerstedt‐Robinson, Adam Stenman, Robert Bränström, Emma Tham, Anders Höög

    出版 2019
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  4. 4
    Incidence of severe congenital neutropenia in Sweden and risk of evolution to myelodysplastic syndrome/leukaemia

    Incidence of severe congenital neutropenia in Sweden and risk of evolution to myelodysplastic syndrome/leukaemia 由 Göran Carlsson, Anders Fasth, Elisabet Berglöf, Kristina Lagerstedt‐Robinson, Magnus Nordenskjöld, Jan Palmblad, Jan‐Inge Henter, Bengt Fadeel

    出版 2012
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  5. 5
    Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population

    Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population 由 Kristina Lagerstedt‐Robinson, Anna Rohlin, Christos Aravidis, Beatrice Melin, Margareta Nordling, Marie Stenmark‐Askmalm, Annika Lindblom, Mef Nilbert

    出版 2016
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  6. 6
    Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer) Diagnostics

    Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer) Diagnostics 由 Kristina Lagerstedt‐Robinson, Thalia D. Liu, Jana Vandrovcová, B. Halvarsson, Mark Clendenning, Thierry Frébourg, Nikolaos G. Papadopoulos, K. W. Kinzler, Bert Vogelstein, Païvi Peltomäki, Richard D. Kolodner, Mef Nilbert, Annika Lindblom

    出版 2007
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  7. 7
    Spinocerebellar ataxia type 4 is caused by a GGC expansion in the <i>ZFHX3</i> gene and is associated with prominent dysautonomia and motor neuron signs

    Spinocerebellar ataxia type 4 is caused by a GGC expansion in the <i>ZFHX3</i> gene and is associated with prominent dysautonomia and motor neuron signs 由 Martin Paucar, Daniel Nilsson, Martin Engvall, José Miguel Laffita‐Mesa, Cilla Söderhäll, Mikael Skorpil, Christer Halldin, Patrik Fazio, Kristina Lagerstedt‐Robinson, Göran Solders, Maria Angéria, Andrea Varrone, Mårten Risling, Hong Jiao, Inger Nennesmo, Anna Wedell, Per Svenningsson

    出版 2024
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  8. 8
    The Clinical Phenotype of Lynch Syndrome Due to Germ-Line PMS2 Mutations

    The Clinical Phenotype of Lynch Syndrome Due to Germ-Line PMS2 Mutations 由 Leigha Senter, Mark Clendenning, Kaisa Sotamaa, Heather Hampel, Jane Green, John D. Potter, Annika Lindblom, Kristina Lagerstedt‐Robinson, Stephen N. Thibodeau, Noralane M. Lindor, Joanne Young, Ingrid Winship, James G. Dowty, Darren M. White, John L. Hopper, Laura Baglietto, Mark A. Jenkins, Albert de la Chapelle

    出版 2008
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  9. 9
    DNA repair genes are selectively mutated in diffuse large B cell lymphomas

    DNA repair genes are selectively mutated in diffuse large B cell lymphomas 由 Noel F.C.C. de Miranda, Roujun Peng, Κωνσταντίνος Γεωργίου, Chenglin Wu, Elin Falk Sörqvist, Mattias Berglund, Longyun Chen, Zhibo Gao, Kristina Lagerstedt‐Robinson, Susana Lisboa, Fredrik Roos, Tom van Wezel, Manuel R. Teixeira, Richard Rosenquist, Christer Sundström, Gunilla Enblad, Mats Nilsson, Yi‐Xin Zeng, David Kipling, Qiang Pan‐Hammarström

    出版 2013
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  10. 10
    Targeted high-throughput sequencing for genetic diagnostics of hemophagocytic lymphohistiocytosis

    Targeted high-throughput sequencing for genetic diagnostics of hemophagocytic lymphohistiocytosis 由 Bianca Tesi, Kristina Lagerstedt‐Robinson, Samuel C. C. Chiang, Eya Ben Bdira, Miguel R. Abboud, Burcu Belen, Ömer Devecioğlu, Zehra Fadoo, Allen Eng Juh Yeoh, Hans Christian Erichsen, Merja Möttönen, Himmet Haluk Akar, Johanna Hästbacka, Zühre Kaya, Susana Nunes, Türkan Patıroğlu, Magnus Sabel, Ebru Sarıbeyoğlu, Tor Henrik Anderson Tvedt, Ekrem Ünal, Şule Ünal, Ayşegül Ünüvar, Marie Meeths, Jan‐Inge Henter, Magnus Nordenskjöld, Yenan T. Bryceson

    出版 2015
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  11. 11
    From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability

    From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intell... 由 Anna Lindstrand, Jesper Eisfeldt, Maria Pettersson, Claudia M.B. Carvalho, Malin Kvarnung, Giedre Grigelioniené, Britt‐Marie Anderlid, Olof Bjerin, Peter Gustavsson, Anna Hammarsjö, Patrik Georgii‐Hemming, Erik Iwarsson, Maria Soller, Kristina Lagerstedt‐Robinson, Agne Liedén, Måns Magnusson, Marcel Martin, Helena Malmgren, Magnus Nordenskjöld, Ameli Norling, Ellika Sahlin, Henrik Stranneheim, Emma Tham, Josephine Wincent, Sofia Ygberg, Anna Wedell, Valtteri Wirta, Ann Nordgren, Johanna Lundin, Daniel Nilsson

    出版 2019
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  12. 12
    Novel Mutations Including Deletions of the Entire<i>OFD1</i>Gene in 30 Families with Type 1 Orofaciodigital Syndrome: A Study of the Extensive Clinical Variability

    Novel Mutations Including Deletions of the Entire<i>OFD1</i>Gene in 30 Families with Type 1 Orofaciodigital Syndrome: A Study of the Extensive Clinical Variability 由 Izak Johannes Bisschoff, Christine Zeschnigk, Denise Horn, Brigitte Wellek, Angelika Rieß, M.W. Wessels, P J Willems, Peter Bjødstrup Jensen, Andreas Busche, Jens Bekkebraten, Maya Chopra, Hanne Hove, Christina Evers, Ketil Heimdal, Ann-Sophie Kaiser, Erdmut Kunstmann, Kristina Lagerstedt‐Robinson, Maja Linné, Patricia Martín, James McGrath, Winnie Pradel, Katrina Prescott, Bernd Roesler, Goražd Rudolf, Ulrike Siebers‐Renelt, Nataliya Tyshchenko, Dagmar Wieczorek, G. Wolff, William B. Dobyns, Deborah Morris‐Rosendahl

    出版 2012
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  13. 13
    Diagnostic Yield From a Nationwide Implementation of Precision Medicine for all Children With Cancer

    Diagnostic Yield From a Nationwide Implementation of Precision Medicine for all Children With Cancer 由 Elisabeth Wadensten, Sandra Wessman, Frida Abel, Teresita Díaz de Ståhl, Bianca Tesi, Christina Orsmark‐Pietras, Linda Arvidsson, Fulya Taylan, Susanne Fransson, Hartmut Vogt, Anna Poluha, Sailendra Pradhananga, Maria Hellberg, Kristina Lagerstedt‐Robinson, Praveen Raj Somarajan, Sofie Samuelsson, Sara Orrsjö, Khurram Maqbool, Karin Henning, Tobias Strid, Torben Ek, Henrik Fagman, Thomas Olsson Bontell, Tommy Martinsson, Florian Puls, Per Kogner, Valtteri Wirta, Cornelis Jan Pronk, Joakim Wille, Richard Rosenquist, Monica Nistér, Fredrik Mertens, Magnus Sabel, Ulrika Norén‐Nyström, Pernilla Grillner, Ann Nordgren, Gustaf Ljungman, Johanna Sandgren, David Gisselsson

    出版 2023
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  14. 14
    Leiden open variation database of the MUTYH gene

    Leiden open variation database of the MUTYH gene 由 Astrid A. Out, Carli M.J. Tops, Maartje Nielsen, Marjan M. Weiss, Ivonne J.H.M. van Minderhout, Ivo F.A.C. Fokkema, Marie‐Pierre Buisine, Kathleen Claes, Chrystelle Colas, Riccardo Fodde, Florentia Fostira, Patrick Franken, Mette Gaustadnes, Karl Heinimann, Shirley V. Hodgson, Frans B.L. Hogervorst, Elke Holinski‐Feder, Kristina Lagerstedt‐Robinson, Sylviane Olschwang, van den Ouweland Ans M.W., E. Redeker, Rodney J. Scott, Bruno Vankeirsbilck, Rikke Veggerby Grønlund, Juul Wijnen, Friedrik P. Wikman, Stefan Aretz, Julian R. Sampson, Peter Devilee, Johan T. den Dunnen, Frederik J. Hes

    出版 2010
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  15. 15
    Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database

    Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database 由 Bryony A. Thompson, Amanda B. Spurdle, John‐Paul Plazzer, Marc S. Greenblatt, Kiwamu Akagi, Fahd Al‐Mulla, Bharati Bapat, Inge Bernstein, Gabriel Capellà, Johan T. den Dunnen, Desirée du Sart, Aurélie Fabre, Michael Farrell, Susan M. Farrington, Ian M. Frayling, Thierry Frébourg, David E. Goldgar, Christopher D Heinen, Elke Holinski‐Feder, Maija Kohonen‐Corish, Kristina Lagerstedt‐Robinson, Suet Yi Leung, Alexandra Martins, Pål Møller, Monika Morak, Minna Nyström, Païvi Peltomäki, Marta Pineda, Ming Qi, Raj Ramesar, Lene Juel Rasmussen, Brigitte Royer‐Pokora, Rodney J. Scott, Rolf H. Sijmons, Sean V. Tavtigian, Carli M.J. Tops, Thomas Weber, Juul Wijnen, Michael O. Woods, Finlay Macrae, Maurizio Genuardi

    出版 2013
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  16. 16
    Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients

    Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients 由 Henrik Stranneheim, Kristina Lagerstedt‐Robinson, Måns Magnusson, Malin Kvarnung, Daniel Nilsson, Nicole Lesko, Martin Engvall, Britt‐Marie Anderlid, Henrik Arnell, Carolina Backman Johansson, Michela Barbaro, Erik Björck, Helene Bruhn, Jesper Eisfeldt, Christoph Freyer, Giedre Grigelioniené, Peter Gustavsson, Anna Hammarsjö, Maritta Hellström-Pigg, Erik Iwarsson, Anders Jemt, Mikael Laaksonen, Sara Lind Enoksson, Helena Malmgren, K Naess, Magnus Nordenskjöld, Mikael Oscarson, Maria Pettersson, Chiara Rasi, Adam Rosenbaum, Ellika Sahlin, Eliane Sardh, Tommy Stödberg, Bianca Tesi, Emma Tham, Håkan Thonberg, Virpi Töhönen, Ulrika von Döbeln, Daphne Vassiliou, Sofie Vonlanthen, Ann–Charlotte Wikström, Josephine Wincent, Ola Winqvist, Anna Wredenberg, Sofia Ygberg, Rolf Zetterström, Per Marits, Maria Soller, Ann Nordgren, Valtteri Wirta, Anna Lindstrand, Anna Wedell

    出版 2021
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  17. 17
    Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients

    Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients 由 Kristien Hoornaert, Inge Vereecke, Chantal Dewinter, Thomas Rosenberg, Frits A. Beemer, Jules G. Leroy, Laila Bendix, Erik Björck, M Bonduelle, Odile Boute, Valérie Cormier‐Daire, Christine De Die-Smulders, Anne Dieux‐Coëslier, Hélène Dollfus, Mariet Elting, Andrew Green, Veronica Ileana Guerci, Raoul C. M. Hennekam, Yvonne Hilhorts-Hofstee, Muriel Holder, Carel C B Hoyng, Kristi Jones, Dragana Josifova, Ilkka Kaitila, Suzanne Kjaergaard, Yolande H Kroes, Kristina Lagerstedt‐Robinson, Melissa Lees, Martine LeMerrer, Cinzia Magnani, Carlo Marcelis, Loreto Martorell, Michèle Mathieu, Meriel McEntagart, Angela Mendicino, Jenny Morton, Gabrielli Orazio, Véronique Paquis, Orit Reish, K. O. J. Simola, Sarah Smithson, I. Karen Temple, Elisabeth Van Aken, Yolande van Bever, Jenneke van den Ende, Johanna M. van Hagen, Leopoldo Zelante, Riina Žordania, Anne De Paepe, Bart P. Leroy, Marc De Buyzere, Paul Coucke, Geert Mortier

    出版 2010
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  18. 18
    Variation in the risk of colorectal cancer in families with Lynch syndrome: a retrospective cohort study

    Variation in the risk of colorectal cancer in families with Lynch syndrome: a retrospective cohort study 由 Aung Ko Win, James G. Dowty, Jeanette C. Reece, Grant Lee, Allyson Templeton, John‐Paul Plazzer, Daniel D. Buchanan, Kiwamu Akagi, Seçil Ak Aksoy, Ángel Alonso, Karin Álvarez, David J. Amor, Ravindran Ankathil, Stefan Aretz, Julie Arnold, Melyssa Aronson, Rachel Austin, A Bäckman, Sanne W. ten Broeke, Verónica Barca-Tierno, Julian Barwell, Inge Bernstein, Pascaline Berthet, Beate Betz, Yves‐Jean Bignon, Talya Boisjoli, Valérie Bonadona, Laurent Briollais, Joan Brunet, Karolin Bucksch, Bruno Buecher, Reinhard Buettner, John Burn, Trinidad Caldés, Gabriel Capellà, Olivier Caron, Graham Casey, Min Hoe Chew, Yun‐Hee Choi, James M. Church, Mark Clendenning, Chrystelle Colas, Elisa J. Cops, Isabelle Coupier, Marcia Cruz‐Correa, Albert de la Chapelle, Niels de Wind, Tadeusz Dębniak, Adriana Della Valle, Capuccine Delnatte, Marion Dhooge, Mev Dominguez–Valentin, Youenn Drouet, Floor A.M. Duijkers, Christoph Engel, Patricia Esperón, D. Gareth Evans, Aı́da Falcón de Vargas, Jane C. Figueiredo, William D. Foulkes, Emmanuelle Fourme, Thierry Frébourg, Steven Gallinger, Pilar Garré, Maurizio Genuardi, Anne‐Marie Gerdes, Lauren M. Gima, Sophie Giraud, Annabel Goodwin, Heike Görgens, Kate Green, José G. Guillem, Carmen Guillén‐Ponce, Roselyne Guimbaud, Rodrigo Santa Cruz Guindalini, Elizabeth Half, Michael J. Hall, Heather Hampel, Thomas van Overeem Hansen, Karl Heinimann, Frederik J. Hes, James Hill, Judy Ho, Elke Holinski‐Feder, Nicoline Hoogerbrugge, Robert Hüneburg, Vanessa Huntley, Paul A. James, Uffe Birk Jensen, Thomas John, Wan Khairunnisa Wan Juhari, Matthew F. Kalady, Fay Kastrinos, Matthias Kloor, Maija Kohonen‐Corish, Lotte Krogh, Sonia S. Kupfer, Uri Ladabaum, Kristina Lagerstedt‐Robinson, Fiona Lalloo

    出版 2021
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