Search Results - Karin Wadt

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  1. 1
    Melanoma genetics

    Melanoma genetics by J Read, Karin Wadt, Nicholas K. Hayward

    Published 2015
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  2. 2
    Genetics of familial melanoma: 20 years after <i><scp>CDKN</scp>2<scp>A</scp></i>

    Genetics of familial melanoma: 20 years after <i><scp>CDKN</scp>2<scp>A</scp></i> by Lauren G. Aoude, Karin Wadt, Antonia L. Pritchard, Nicholas K. Hayward

    Published 2014
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  3. 3
    The evolutionary impact of childhood cancer on the human gene pool

    The evolutionary impact of childhood cancer on the human gene pool by Ulrik Kristoffer Stoltze, Jon Foss-Skiftesvik, Thomas van Overeem Hansen, Simon Rasmussen, Konrad J. Karczewski, Karin Wadt, Kjeld Schmiegelow

    Published 2024
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  4. 4
    Cancer-related Mutations with Local or Long-range Effects on an Allosteric Loop of p53

    Cancer-related Mutations with Local or Long-range Effects on an Allosteric Loop of p53 by Kristine Degn, Ludovica Beltrame, Freja Dahl Hede, Valentina Sora, Vincenzo Nicolaci, Marina Vabistsevits, Kjeld Schmiegelow, Karin Wadt, Matteo Tiberti, Matteo Lambrughi, Elena Papaleo

    Published 2022
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  5. 5
    Germline BRCA testing in Denmark following invasive breast cancer: Progress since 2000

    Germline BRCA testing in Denmark following invasive breast cancer: Progress since 2000 by A. Kostov, Maj‐Britt Jensen, Bent Ejlertsen, Mads Thomassen, Maria Rossing, Inge Søkilde Pedersen, Annabeth Høgh Petersen, Lise Lotte Christensen, Karin Wadt, Anne‐Vibeke Lænkholm

    Published 2025
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  6. 6
    A BAP1 Mutation in a Danish Family Predisposes to Uveal Melanoma and Other Cancers

    A BAP1 Mutation in a Danish Family Predisposes to Uveal Melanoma and Other Cancers by Lauren G. Aoude, Karin Wadt, Anders Bojesen, Dorthe Gylling Crüger, Åke Borg, Jeffrey M. Trent, Kevin M. Brown, Anne‐Marie Gerdes, Göran Jönsson, Nicholas K. Hayward

    Published 2013
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  7. 7
    The genetic evolution of metastatic uveal melanoma

    The genetic evolution of metastatic uveal melanoma by A. Hunter Shain, Mette Bagger, Richard Yu, Darwin Chang, Shanshan Liu, Swapna S. Vemula, Jingly F. Weier, Karin Wadt, Steffen Heegaard, Boris C. Bastian, Jens Folke Kiilgaard

    Published 2019
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  8. 8
    A cryptic <scp><i>BAP1</i></scp> splice mutation in a family with uveal and cutaneous melanoma, and paraganglioma

    A cryptic <scp><i>BAP1</i></scp> splice mutation in a family with uveal and cutaneous melanoma, and paraganglioma by Karin Wadt, Jiyeon Choi, Joon‐Yong Chung, Jens Folke Kiilgaard, Steffen Heegaard, Krzysztof T. Drzewiecki, Jeffrey M. Trent, Stephen M. Hewitt, Nicholas K. Hayward, Anne‐Marie Gerdes, Kevin M. Brown

    Published 2012
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  9. 9
    <scp>RosettaDDGPrediction</scp> for high‐throughput mutational scans: From stability to binding

    <scp>RosettaDDGPrediction</scp> for high‐throughput mutational scans: From stability to binding by Valentina Sora, Adrian Otamendi Laspiur, Kristine Degn, Matteo Arnaudi, Mattia Utichi, Ludovica Beltrame, Dayana De Menezes, Matteo Orlandi, Ulrik Kristoffer Stoltze, Olga Rigina, Peter Wad Sackett, Karin Wadt, Kjeld Schmiegelow, Matteo Tiberti, Elena Papaleo

    Published 2022
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  10. 10
    High frequency of pathogenic germline variants within homologous recombination repair in patients with advanced cancer

    High frequency of pathogenic germline variants within homologous recombination repair in patients with advanced cancer by Birgitte Bertelsen, Ida Viller Tuxen, Christina W. Yde, Miglė Gabrielaitė, Mathias H. Torp, Savvas Kinalis, Olga Oestrup, Kristoffer Staal Rohrberg, Iben Spangaard, Eric Santoni‐Rugiu, Karin Wadt, Morten Mau‐Sørensen, Ulrik Lassen, Finn Cilius Nielsen

    Published 2019
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  11. 11
    Germline TERT promoter mutations are rare in familial melanoma

    Germline TERT promoter mutations are rare in familial melanoma by Mark Harland, Mia Petljak, Carla Daniela Robles‐Espinoza, Zhihao Ding, Nelleke A. Gruis, Remco van Doorn, Karen A. Pooley, Alison M. Dunning, Lauren G. Aoude, Karin Wadt, Anne‐Marie Gerdes, Kevin M. Brown, Nicholas K. Hayward, Julia Newton‐Bishop, David J. Adams, D. Timothy Bishop

    Published 2015
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  12. 12
    Deep sequencing of uveal melanoma identifies a recurrent mutation in <i>PLCB4</i>

    Deep sequencing of uveal melanoma identifies a recurrent mutation in <i>PLCB4</i> by Peter A. Johansson, Lauren G. Aoude, Karin Wadt, William Glasson, Sunil Warrier, Alex W. Hewitt, Jens Folke Kiilgaard, Steffen Heegaard, Tim Isaacs, Maria Franchina, Christian Ingvar, Tersia Vermeulen, Kevin J. Whitehead, Christopher Schmidt, Jane M. Palmer, Judith Symmons, Anne‐Marie Gerdes, Göran Jönsson, Nicholas K. Hayward

    Published 2015
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  13. 13
    Nationwide germline whole genome sequencing of 198 consecutive pediatric cancer patients reveals a high incidence of cancer prone syndromes

    Nationwide germline whole genome sequencing of 198 consecutive pediatric cancer patients reveals a high incidence of cancer prone syndromes by Anna Byrjalsen, Thomas van Overeem Hansen, Ulrik Kristoffer Stoltze, Mana M. Mehrjouy, Nanna Moeller Barnkob, Lisa Lyngsie Hjalgrim, René Mathiasen, Charlotte Kvist Lautrup, Pernille A. Gregersen, Henrik Hasle, Peder Skov Wehner, Ruta Tuckuviene, Peter Wad Sackett, Adrian Otamendi Laspiur, Maria Rossing, Rasmus L. Marvig, Niels Tommerup, Tina Elisabeth Olsen, David Scheie, Ramneek Gupta, Anne–Marie Gerdes, Kjeld Schmiegelow, Karin Wadt

    Published 2020
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  14. 14
    von Hippel-Lindau disease: Updated guideline for diagnosis and surveillance

    von Hippel-Lindau disease: Updated guideline for diagnosis and surveillance by Marie Louise Mølgaard Binderup, Maja Patricia Smerdel, Line Borgwadt, Signe Sparre Beck‐Nielsen, Mia Gebauer Madsen, Hans Ulrik Møller, Jens Folke Kiilgaard, Lennart Friis‐Hansen, Vibeke Harbud, Søren Cortnum, Hanne Owen, Steen Gimsing, Henning Anker Friis Juhl, Sune Munthe, Marianne Geilswijk, Åse Krogh Rasmussen, Ulla Møldrup, Ole Graumann, Frede Donskov, Henning Grønbæk, Brian Stausbøl‐Grøn, Ove B. Schaffalitzky de Muckadell, Ulrich Knigge, Gitte Dam, Karin Wadt, Lars Bøgeskov, Per Bagi, Lars Lund, Kirstine Stochholm, Lilian Bomme Ousager, Lone Sunde

    Published 2022
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  15. 15
    Whole genome landscapes of uveal melanoma show an ultraviolet radiation signature in iris tumours

    Whole genome landscapes of uveal melanoma show an ultraviolet radiation signature in iris tumours by Peter A. Johansson, Kelly Brooks, Felicity Newell, Jane M. Palmer, James S. Wilmott, Antonia L. Pritchard, Natasa Broit, Scott Wood, Matteo S. Carlino, Conrad Leonard, Lambros T. Koufariotis, Vaishnavi Nathan, Aaron B. Beasley, Madeleine Howlie, Rebecca Dawson, Helen Rizos, Christopher Schmidt, Georgina V. Long, Hayley R. Hamilton, Jens Folke Kiilgaard, Timothy Isaacs, Elin S. Gray, Olivia Rolfe, John Park, Andrew Stark, Graham J. Mann, Richard A. Scolyer, John V. Pearson, Nicolas van Baren, Nicola Waddell, Karin Wadt, Lindsay A. McGrath, Sunil Warrier, William Glasson, Nicholas K. Hayward

    Published 2020
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  16. 16
    Nonsense Mutations in the Shelterin Complex Genes ACD and TERF2IP in Familial Melanoma

    Nonsense Mutations in the Shelterin Complex Genes ACD and TERF2IP in Familial Melanoma by Lauren G. Aoude, Antonia L. Pritchard, Carla Daniela Robles‐Espinoza, Karin Wadt, Mark Harland, Jiyeon Choi, Michael G. Gartside, Vı́ctor Quesada, Peter A. Johansson, Jane M. Palmer, Andrew Ramsay, Xijun Zhang, Kristine Jones, Judith Symmons, Elizabeth A. Holland, Helen Schmid, Vanessa Bonazzi, Susan L. Woods, Ken Dutton‐Regester, Mitchell Stark, Helen Snowden, Remco van Doorn, Grant W. Montgomery, Nicholas G. Martin, Thomas Keane, Carlos López-Otı́n, Anne‐Marie Gerdes, Håkan Olsson, Christian Ingvar, Åke Borg, Nelleke A. Gruis, Jeffrey M. Trent, Göran Jönsson, D. Timothy Bishop, Graham J. Mann, Julia Newton‐Bishop, Kevin M. Brown, David J. Adams, Nicholas K. Hayward

    Published 2014
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  17. 17
    Birth cohort-specific trends of sun-related behaviors among individuals from an international consortium of melanoma-prone families

    Birth cohort-specific trends of sun-related behaviors among individuals from an international consortium of melanoma-prone families by John Charles A. Lacson, Shahriar A. Zamani, Luis Alberto Ribeiro Fróes, Nandita Mitra, Qian Lü, Scarlet H. Doyle, Esther Azizi, Claudia Balestrini, D. Timothy Bishop, William Bruno, Blanca Carlos‐Ortega, Francisco Cuéllar, Anne Ε. Cust, David E. Elder, Anne‐Marie Gerdes, Paola Ghiorzo, Thaís Corsetti Grazziotin, Nelleke A. Gruis, Johan Hansson, Marko Hočevar, Veronica Höiom, Elizabeth A. Holland, Christian Ingvar, Gilles Landman, Alejandra Larre-Borges, Graham J. Mann, Montserrat Molgó, Luciana Facure Moredo, Håkan Olsson, Jacoba J. Out‐Luiting, Barbara Perić, Dace Pjanova, Susana Puig, Julio C. Salas‐Alanís, Helen Schmid, Karin Wadt, Julia Newton‐Bishop, Peter A. Kanetsky

    Published 2021
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  18. 18
    Surveillance recommendations for DICER1 pathogenic variant carriers: a report from the SIOPE Host Genome Working Group and CanGene-CanVar Clinical Guideline Working Group

    Surveillance recommendations for DICER1 pathogenic variant carriers: a report from the SIOPE Host Genome Working Group and CanGene-CanVar Clinical Guideline Working Group by Jette J. Bakhuizen, Helen Hanson, Karin van der Tuin, Fiona Lalloo, Marc Tischkowitz, Karin Wadt, Marjolijn C.J. Jongmans, Beate B. Dörgeloh, Roula Farah, Stavros Glentis, Lisa Golmard, Juliane Hoyer, Kirsi Jahnukainen, Rosalyn Jewell, Axel Karow, K. Katsibardi, Michaela Kuhlen, Andrea Meinhardt, Karolina Nemes, Anna Poluha, Tim Ripperger, Nicolas Waespe, Julian Adlard, Munaza Ahmed, Bernadette Brennan, Tabib Dabir, D. Gareth Evans, Anna Kelsey, Kelly Kohut, A. Kulkarni, Alex Murray, Kai Ren Ong, Anthony Penn, Thomas Semple, Emma R. Woodward, Rachel S. van Leeuwaarde, Annemieke S. Littooij, Johannes H. M. Merks, Åse Krogh Rasmussen, Hanneke M. van Santen, Stephanie E. Smetsers

    Published 2021
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  19. 19
    Clinical practice guidelines for the diagnosis and surveillance of BAP1 tumour predisposition syndrome

    Clinical practice guidelines for the diagnosis and surveillance of BAP1 tumour predisposition syndrome by Fiona Lalloo, A. Kulkarni, Cindy Chau, Maartje Nielsen, Michael Sheaff, Jeremy Steele, Remco van Doorn, Karin Wadt, Monica Hamill, Beth Torr, Marc Tischkowitz, Munaza Ahmed, Svetlana Lagercrantz, Ana Blatnik, Joan Brunet, Ruth Cleaver, Chrystelle Colas, Tabib Dabir, D. Gareth Evans, Shirin Feshtali, Paola Ghiorzo, Lise Graversen, Klaus Griewank, Hildur Helgadóttir, Rosalyn Jewell, Kelly Kohut, Henrik Lorentzen, Daniela Massi, Guy S. Missotten, Alex Murray, Jennie Murray, Ernest Nadal, Kai Ren Ong, Josep M. Piulats, Susana Puig, Neil Rajan, Simone Ribero, Galateau Salle, Àlex Teulé, Emma Tham, Barbara van Paassen, Robin De Putter, Robert M. Verdijk, Anja Wagner, Emma R. Woodward, Helen Hanson

    Published 2023
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  20. 20
    Estimating CDKN2A mutation carrier probability among global familial melanoma cases using GenoMELPREDICT

    Estimating CDKN2A mutation carrier probability among global familial melanoma cases using GenoMELPREDICT by Nicholas J. Taylor, Nandita Mitra, Qian Lü, Marie‐Françoise Avril, D. Timothy Bishop, Brigitte Bressac–de Paillerets, William Bruno, Donato Calista, Francisco Cuéllar, Anne Ε. Cust, Florence Démenais, David E. Elder, Anne‐Marie Gerdes, Paola Ghiorzo, Alisa M. Goldstein, Thaís Corsetti Grazziotin, Nelleke A. Gruis, Johan Hansson, Mark Harland, Nicholas K. Hayward, Marko Hočevar, Veronica Höiom, Elizabeth A. Holland, Christian Ingvar, Maria Teresa Landi, Gilles Landman, Alejandra Larre-Borges, Graham J. Mann, Eduardo Nagore, Håkan Olsson, Jane M. Palmer, Barbara Perić, Dace Pjanova, Antonia L. Pritchard, Susana Puig, Helen Schmid, Nienke van der Stoep, Margaret A. Tucker, Karin Wadt, Xiaohong R. Yang, Julia Newton‐Bishop, Peter A. Kanetsky

    Published 2019
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