检索结果 - Ingvild Aukrust

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  1. 1
    The intronic <i><scp>ABCA</scp>4</i> c.5461‐10T&gt;C variant, frequently seen in patients with Stargardt disease, causes splice defects and reduced <scp>ABCA</scp>4 protein level

    The intronic <i><scp>ABCA</scp>4</i> c.5461‐10T&gt;C variant, frequently seen in patients with Stargardt disease, causes splice defects and reduced <scp>ABCA</scp>4 protein level 由 Ingvild Aukrust, Ragnhild Wivestad Jansson, Cecilie Bredrup, Hilde E. Rusaas, Siren Berland, Agnete Jørgensen, Marte G. Haug, Eyvind Rødahl, Gunnar Houge, Per M. Knappskog

    出版 2016
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  2. 2
    Functional Investigations of <i>HNF1A</i> Identify Rare Variants as Risk Factors for Type 2 Diabetes in the General Population

    Functional Investigations of <i>HNF1A</i> Identify Rare Variants as Risk Factors for Type 2 Diabetes in the General Population 由 Laeya A. Najmi, Ingvild Aukrust, Jason Flannick, Janne Molnes, Noël P. Burtt, Anders Molven, Leif Groop, David Altshuler, Stefan Johansson, Lise Bjørkhaug, Pål R. Njølstad

    出版 2016
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  3. 3
    Phenotypic extremes of BICD2-opathies: from lethal, congenital muscular atrophy with arthrogryposis to asymptomatic with subclinical features

    Phenotypic extremes of BICD2-opathies: from lethal, congenital muscular atrophy with arthrogryposis to asymptomatic with subclinical features 由 Markus Storbeck, Beate Horsberg Eriksen, Andreas Unger, Irmgard Hölker, Ingvild Aukrust, Lilian A. Martinez-Carrera, Wolfgang A. Linke, A. Ferbert, Raoul Heller, Matthias Vorgerd, Gunnar Houge, Brunhilde Wirth

    出版 2017
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  4. 4
    Targeted next-generation sequencing reveals MODY in up to 6.5% of antibody-negative diabetes cases listed in the Norwegian Childhood Diabetes Registry

    Targeted next-generation sequencing reveals MODY in up to 6.5% of antibody-negative diabetes cases listed in the Norwegian Childhood Diabetes Registry 由 Bente B. Johansson, Henrik Irgens, Janne Molnes, Paweł Sztromwasser, Ingvild Aukrust, Pétur Benedikt Júlíusson, Oddmund Søvik, Shawn Levy, Torild Skrivarhaug, Geir Joner, Anders Molven, Stefan Johansson, Pål R. Njølstad

    出版 2016
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  5. 5
    High Incidence of Heterozygous<i>ABCC8</i>and<i>HNF1A</i>Mutations in Czech Patients With Congenital Hyperinsulinism

    High Incidence of Heterozygous<i>ABCC8</i>and<i>HNF1A</i>Mutations in Czech Patients With Congenital Hyperinsulinism 由 Klára Roženková, Jana Malíková, Azizun Nessa, Lenka Dušátková, Lise Bjørkhaug, Barbora Obermannová, Petra Dušátková, Jitka Kytnarová, Ingvild Aukrust, Laeya A. Najmi, Blanka Rypáčková, Zdenĕk Šumnı́k, Jan Lebl, Pål R. Njølstad, Khalid Hussain, Štěpánka Průhová

    出版 2015
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  6. 6
    STUB1 mutations in autosomal recessive ataxias – evidence for mutation-specific clinical heterogeneity

    STUB1 mutations in autosomal recessive ataxias – evidence for mutation-specific clinical heterogeneity 由 Ketil Heimdal, Mònica Sánchez-Guixé, Ingvild Aukrust, Jens Bollerslev, Ove Bruland, Greg Eigner Jablonski, Anne Kjersti Erichsen, Einar Gude, Jeanette Koht, Sigrid Erdal, Torunn Fiskerstrand, Bjørn Ivar Haukanes, Helge Boman, Lise Bjørkhaug, Chantal Tallaksen, Per M. Knappskog, Stefan Johansson

    出版 2014
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  7. 7
    HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients

    HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients 由 Stéphanie Moortgat, Siren Berland, Ingvild Aukrust, Isabelle Maystadt, Laura Baker, Valérie Benoît, Alfonso Caro‐Llopis, Nicola Cooper, François‐Guillaume Debray, Laurence Faivre, Thatjana Gardeitchik, Bjørn Ivar Haukanes, Gunnar Houge, Emma Kivuva, Francisco Martı́nez, Sarju Mehta, Marie‐Cécile Nassogne, Nina Powell‐Hamilton, Rolph Pfundt, Mónica Roselló, Trine Prescott, Pradeep Vasudevan, Barbara van Loon, Christine Verellen‐Dumoulin, Alain Verloès, Charlotte von der Lippe, Emma Wakeling, Andrew O.M. Wilkie, Louise C. Wilson, Amy Lawson Yuen, Ddd Study, Karen Low, Ruth Newbury‐Ecob

    出版 2017
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  8. 8
    Association of a Low-Frequency Variant in<i>HNF1A</i>With Type 2 Diabetes in a Latino Population

    Association of a Low-Frequency Variant in<i>HNF1A</i>With Type 2 Diabetes in a Latino Population 由 Karol Estrada, Ingvild Aukrust, Lise Bjørkhaug, Noël P. Burtt, Josep M. Mercader, Humberto Garcia‐Ortíz, Alicia Huerta-Chagoya, Hortensia Moreno-Macías, Geoffrey Walford, Jason Flannick, Amy L. Williams, María José Gómez-Vázquez, Juan Carlos Fernández-López, Angélica Martínez‐Hernández, Federico Centeno-Cruz, Elvia Mendoza‐Caamal, M. Revilla, Sergio Islas‐Andrade, Emilio J. Córdova, Xavier Soberón, María Elena González-Villalpando, Elizabeth Henderson, Lynne R. Wilkens, Loı̈c Le Marchand, Olimpia Arellano‐Campos, María Luisa Ordóñez-Sánchez, M. Rodríguez‐Torres, Rosario Rodríguez-Guillén, Laura Riba, Laeya A. Najmi, Suzanne B.R. Jacobs, Timothy R. Fennell, Stacey Gabriel, Pierre Fontanillas, Craig L. Hanis, Donna M. Lehman, Christopher P. Jenkinson, Hanna E. Abboud, Graeme I. Bell, Maria L. Cortés, Michael Boehnke, Clicerio González‐Villalpando, Lorena Orozco, Christopher A. Haiman, Teresa Tusié‐Luna, Carlos A. Aguilar‐Salinas, David Altshuler, Pål R. Njølstad, José C. Florez, Daniel G. MacArthur

    出版 2014
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  9. 9
    Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7

    Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7 由 Laura Castilla‐Vallmanya, Kaja Kristine Selmer, Clémantine Dimartino, Raquel Rabionet, Bernardo Blanco‐Sánchez, Sandra Yang, Margot R.F. Reijnders, A.J. van Essen, Myriam Oufadem, Magnus Dehli Vigeland, Barbro Stadheim, Gunnar Houge, Helen Cox, Helen Kingston, Jill Clayton‐Smith, Jeffrey W. Innis, Maria Iascone, Anna Cereda, Sara Gabbiadini, Wendy K. Chung, Victoria R. Sanders, Joel Charrow, Emily Bryant, J Gordon Millichap, Antonio Vitobello, Christel Thauvin, Frédéric Tran Mau‐Them, Laurence Faivre, Gaëtan Lesca, Audrey Labalme, Christelle Rougeot, Nicolas Chatron, Damien Sanlaville, Katherine Christensen, Amelia Kirby, Raymond Lewandowski, Rachel Gannaway, Maha Abdelgaber A. Aly, Anna Lehman, Lorne A. Clarke, Luitgard Graul‐Neumann, Christiane Zweier, Davor Lessel, Bernarda Lozić, Ingvild Aukrust, Ryan Peretz, Robert F. Stratton, Thomas Smol, Anne Dieux‐Coëslier, Joanna Góes Castro Meira, Elizabeth Wohler, Nara Sobreira, Erin Beaver, Jennifer Heeley, Lauren C. Briere, Frances A. High, David A. Sweetser, Melissa Walker, Catherine E. Keegan, Parul Jayakar, Marwan Shinawi, Wilhelmina S. Kerstjens‐Frederikse, Dawn Earl, Victoria Mok Siu, Emma Reesor, Tony Yao, Robert A. Hegele, Olena M. Vaske, Shannon Rego, Kevin A. Shapiro, Brian Wong, Michael J. Gambello, Marie McDonald, Danielle Karlowicz, Roberto Colombo, Alessandro Serretti, Lynn Pais, Anne O’Donnell‐Luria, Alison Wray, Simon Sadedin, Belinda Chong, Tiong Yang Tan, John Christodoulou, Susan M. White, Anne Slavotinek, Deborah Barbouth, Dayna Morel Swols, Mélanie Parisot, Christine Bôle‐Feysot, Patrick Nitschké, Véronique Pingault, Arnold Munnich, Megan T. Cho, Valérie Cormier‐Daire, Susana Balcells, Stanislas Lyonnet, Daniel Grinberg, Jeanne Amiel, Roser Urreizti, Christopher T. Gordon

    出版 2020
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