Resultados de búsqueda - Johanna Tommiska

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  1. 1
    A missense mutation in MKRN3 in a Danish girl with central precocious puberty and her brother with early puberty

    A missense mutation in MKRN3 in a Danish girl with central precocious puberty and her brother with early puberty por Johanna Känsäkoski, Taneli Raivio, Anders Juul, Johanna Tommiska

    Publicado 2015
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  2. 2
    Reversible Congenital Hypogonadotropic Hypogonadism in Patients with CHD7, FGFR1 or GNRHR Mutations

    Reversible Congenital Hypogonadotropic Hypogonadism in Patients with CHD7, FGFR1 or GNRHR Mutations por Eeva‐Maria Laitinen, Johanna Tommiska, Timo Sane, Kirsi Vaaralahti, Jorma Toppari, Taneli Raivio

    Publicado 2012
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  3. 3
    LIN28B in Constitutional Delay of Growth and Puberty

    LIN28B in Constitutional Delay of Growth and Puberty por Johanna Tommiska, Karoliina Wehkalampi, Kirsi Vaaralahti, Eeva‐Maria Laitinen, Taneli Raivio, Leo Dunkel

    Publicado 2010
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  4. 4
    The role of gene defects underlying isolated hypogonadotropic hypogonadism in patients with constitutional delay of growth and puberty

    The role of gene defects underlying isolated hypogonadotropic hypogonadism in patients with constitutional delay of growth and puberty por Kirsi Vaaralahti, Karoliina Wehkalampi, Johanna Tommiska, Eeva‐Maria Laitinen, Leo Dunkel, Taneli Raivio

    Publicado 2011
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  5. 5
    Incidence, Phenotypic Features and Molecular Genetics of Kallmann Syndrome in Finland

    Incidence, Phenotypic Features and Molecular Genetics of Kallmann Syndrome in Finland por Eeva‐Maria Laitinen, Kirsi Vaaralahti, Johanna Tommiska, Elina Eklund, Mari Tervaniemi, Leena Valanne, Taneli Raivio

    Publicado 2011
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  6. 6
    Circulating antimüllerian hormone levels in boys decline during early puberty and correlate with inhibin B

    Circulating antimüllerian hormone levels in boys decline during early puberty and correlate with inhibin B por Matti Hero, Johanna Tommiska, Kirsi Vaaralahti, Eeva‐Maria Laitinen, Ilkka Sipilä, Lea Puhakka, Leo Dunkel, Taneli Raivio

    Publicado 2012
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  7. 7
    Mutation screening of SEMA3A and SEMA7A in patients with congenital hypogonadotropic hypogonadism

    Mutation screening of SEMA3A and SEMA7A in patients with congenital hypogonadotropic hypogonadism por Johanna Känsäkoski, Rainer Fagerholm, Eeva‐Maria Laitinen, Kirsi Vaaralahti, Peter Hackman, Nelly Pitteloud, Taneli Raivio, Johanna Tommiska

    Publicado 2014
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  8. 8
    The single-nucleotide polymorphism 309 in the MDM2 gene contributes to the Li–Fraumeni syndrome and related phenotypes

    The single-nucleotide polymorphism 309 in the MDM2 gene contributes to the Li–Fraumeni syndrome and related phenotypes por Mariëlle Ruijs, Marjanka K. Schmidt, Heli Nevanlinna, Johanna Tommiska, Kristiina Aittomäki, Roelof Pruntel, Senno Verhoef, Laura J. vanʼt Veer

    Publicado 2006
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  9. 9
    The combined status of ATM and p53 link tumor development with therapeutic response

    The combined status of ATM and p53 link tumor development with therapeutic response por Hai Jiang, Hans Christian Reinhardt, Jiřina Bártková, Johanna Tommiska, Carl Blomqvist, Heli Nevanlinna, Jiří Bártek, Michael B. Yaffe, Michael T. Hemann

    Publicado 2009
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  10. 10
    Complete androgen insensitivity syndrome caused by a deep intronic pseudoexon-activating mutation in the androgen receptor gene

    Complete androgen insensitivity syndrome caused by a deep intronic pseudoexon-activating mutation in the androgen receptor gene por Johanna Känsäkoski, Jarmo Jääskeläinen, Tiina Jääskeläinen, Johanna Tommiska, Lilli Saarinen, Rainer Lehtonen, Sampsa Hautaniemi, Mikko J. Frilander, Jorma J. Palvimo, Jorma Toppari, Taneli Raivio

    Publicado 2016
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  11. 11
    Aberrations of the MRE11–RAD50–NBS1 DNA damage sensor complex in human breast cancer: <i>MRE11</i> as a candidate familial cancer‐predisposing gene

    Aberrations of the MRE11–RAD50–NBS1 DNA damage sensor complex in human breast cancer: <i>MRE11</i> as a candidate familial cancer‐predisposing gene por Jiřina Bártková, Johanna Tommiska, Lenka Oplustilova, Kirsimari Aaltonen, Anitta Tamminen, Tuomas Heikkinen, Martin Mistrík, Kristiina Aittomäki, Carl Blomqvist, Päivi Heikkilä, Jiří Lukáš, Heli Nevanlinna, Jiří Bártek

    Publicado 2008
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  12. 12
    The DNA damage signalling kinase ATM is aberrantly reduced or lost in BRCA1/BRCA2-deficient and ER/PR/ERBB2-triple-negative breast cancer

    The DNA damage signalling kinase ATM is aberrantly reduced or lost in BRCA1/BRCA2-deficient and ER/PR/ERBB2-triple-negative breast cancer por Johanna Tommiska, Jiřina Bártková, Merja Heinonen, Laura Hautala, Outi Kilpivaara, Hannaleena Eerola, Kristiina Aittomäki, Barbara Hofstetter, Jiří Lukáš, Karl von Smitten, Carl Blomqvist, Ari Ristimäki, Päivi Heikkilä, Jiří Bártek, Heli Nevanlinna

    Publicado 2007
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  13. 13
    Exome Sequencing Identifies Mitochondrial Alanyl-tRNA Synthetase Mutations in Infantile Mitochondrial Cardiomyopathy

    Exome Sequencing Identifies Mitochondrial Alanyl-tRNA Synthetase Mutations in Infantile Mitochondrial Cardiomyopathy por Alexandra Götz, Henna Tyynismaa, Liliya Euro, Pekka Ellonen, Tuulia Hyötyläinen, Tiina Ojala, Riikka H. Hämäläinen, Johanna Tommiska, Taneli Raivio, Matej Orešič, Riitta Karikoski, Outi Tammela, K. O. J. Simola, Anders Paetau, Tiina Tyni, Anu Suomalainen

    Publicado 2011
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  14. 14
    53BP1 loss rescues BRCA1 deficiency and is associated with triple-negative and BRCA-mutated breast cancers

    53BP1 loss rescues BRCA1 deficiency and is associated with triple-negative and BRCA-mutated breast cancers por Peter Bouwman, Amal Aly, José Miguel Escandell, Mark Pieterse, Jiřina Bártková, Hanneke van der Gulden, Sanne Hiddingh, Maria Thanasoula, Atul Kulkarni, Qifeng Yang, Bruce G. Haffty, Johanna Tommiska, Carl Blomqvist, Ronny Drapkin, David J. Adams, Heli Nevanlinna, Jiří Bártek, Madalena Tarsounas, Shridar Ganesan, Jos Jonkers

    Publicado 2010
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  15. 15
    Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients

    Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients por Julie Hathaway, Krista Heliö, Inka Saarinen, Jonna Tallila, Eija H. Seppälä, Sari Tuupanen, Hannu Turpeinen, Tiia Kangas‐Kontio, Jennifer Schleit, Johanna Tommiska, Ville Kytölä, Miko Valori, Mikko Muona, Johanna Sistonen, Massimiliano Gentile, Pertteli Salmenperä, Samuel Myllykangas, Jussi Paananen, Tero‐Pekka Alastalo, Tiina Heliö, Juha Koskenvuo

    Publicado 2021
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  16. 16
    Neuron-Derived Neurotrophic Factor Is Mutated in Congenital Hypogonadotropic Hypogonadism

    Neuron-Derived Neurotrophic Factor Is Mutated in Congenital Hypogonadotropic Hypogonadism por Andrea Messina, Kristiina Pulli, Sara Santini, James S. Acierno, Johanna Känsäkoski, Daniele Cassatella, Cheng Xu, Filippo Casoni, Samuel A. Malone, Gaëtan Ternier, Daniele Conte, Yisrael Sidis, Johanna Tommiska, Kirsi Vaaralahti, Andrew Dwyer, Yoav Gothilf, Giorgio R. Merlo, Federico Santoni, Nicolas J. Niederländer, Paolo Giacobini, Taneli Raivio, Nelly Pitteloud

    Publicado 2019
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  17. 17
    Genetic Overlap in Kallmann Syndrome, Combined Pituitary Hormone Deficiency, and Septo-Optic Dysplasia

    Genetic Overlap in Kallmann Syndrome, Combined Pituitary Hormone Deficiency, and Septo-Optic Dysplasia por Taneli Raivio, Magdalena Avbelj Stefanija, Mark J. McCabe, Christopher Romero, Andrew Dwyer, Johanna Tommiska, Gerasimos P. Sykiotis, Louise Gregory, Daniel Diaczok, Vaitsa Tziaferi, Mariet W. Elting, Raja Padidela, Lacey Plummer, Cecilia Martin, Bihua Feng, Chengkang Zhang, Qun-Yong Zhou, Huaibin Chen, Moosa Mohammadi, Richard Quinton, Yisrael Sidis, Sally Radovick, Mehul Dattani, Nelly Pitteloud

    Publicado 2012
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  18. 18
    Congenital hypogonadotropic hypogonadism with split hand/foot malformation: a clinical entity with a high frequency of FGFR1 mutations

    Congenital hypogonadotropic hypogonadism with split hand/foot malformation: a clinical entity with a high frequency of FGFR1 mutations por Carine Villanueva, Elka Jacobson-Dickman, Cheng Xu, Sylvie Manouvrier, Andrew Dwyer, Gerasimos P. Sykiotis, Andrew Beenken, Yang Liu, Johanna Tommiska, Youli Hu, Dov Tiosano, Marion Gérard, Juliane Léger, Valérie Drouin‐Garraud, Hervé Lefèbvre, Michel Polak, Jean‐Claude Carel, Franziska Phan-Hug, Michael Hauschild, Lacey Plummer, Jean-Pierre Rey, Taneli Raivio, Pierre Bouloux, Yisrael Sidis, Moosa Mohammadi, Nicolás de Roux, Nelly Pitteloud

    Publicado 2014
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  19. 19
    Hereditary myopathy with early respiratory failure: occurrence in various populations

    Hereditary myopathy with early respiratory failure: occurrence in various populations por Johanna Palmio, Anni Evilä, Françoise Chapon, Giorgio Tasca, Fengqing Xiang, Björn Brådvik, B. Eymard, Andoni Echaniz‐Laguna, Jocelyn Laporte, Mikko Kärppä, I. Mahjneh, Rosaline C. M. Quinlivan, Pascal Laforêt, Maxwell S. Damian, Andrés Berardo, A.L. Taratuto, J. A. Bueri, Johanna Tommiska, Taneli Raivio, Melanie J. Tuerk, Philipp Gölitz, Frédéric Chevessier, Caroline A. Sewry, F. Norwood, Carola Hedberg, Rolf Schröder, Lars Edström, Anders Oldfors, Peter Hackman, Bjarne Udd

    Publicado 2013
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  20. 20
    Two missense mutations in KCNQ1 cause pituitary hormone deficiency and maternally inherited gingival fibromatosis

    Two missense mutations in KCNQ1 cause pituitary hormone deficiency and maternally inherited gingival fibromatosis por Johanna Tommiska, Johanna Känsäkoski, Lasse Skibsbye, Kirsi Vaaralahti, Xiaonan Liu, Emily J. Lodge, Chuyi Tang, Lei Yuan, Rainer Fagerholm, Jørgen K. Kanters, Päivi Lahermo, Mari Kaunisto, Riikka Keski‐Filppula, Sanna Vuoristo, Kristiina Pulli, Tapani Ebeling, Leena Valanne, Eeva‐Marja Sankila, Sirpa Kivirikko, Mitja Lääperi, Filippo Casoni, Paolo Giacobini, Franziska Phan-Hug, Tal Buki, Manuel Tena‐Sempere, Nelly Pitteloud, Riitta Veijola, Marita Lipsanen‐Nyman, Kari Kaunisto, Patrice Mollard, Cynthia L. Andoniadou, Joel A. Hirsch, Markku Varjosalo, Thomas Jespersen, Taneli Raivio

    Publicado 2017
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