Zobrazeno 1 - 10
of 149
pro vyhledávání: '"Jamie Allen"'
Autor:
Weang-Kee Ho, Nur Tiara Hassan, Sook-Yee Yoon, Xin Yang, Joanna M.C. Lim, Nur Diana Binte Ishak, Peh Joo Ho, Eldarina A. Wijaya, Patsy Pei-Sze Ng, Craig Luccarini, Jamie Allen, Mei-Chee Tai, Jianbang Chiang, Zewen Zhang, Mee-Hoong See, Meow-Keong Thong, Yin-Ling Woo, Alison M. Dunning, Mikael Hartman, Cheng-Har Yip, Nur Aishah Mohd Taib, Douglas F. Easton, Jingmei Li, Joanne Ngeow, Antonis C. Antoniou, Soo-Hwang Teo
Publikováno v:
The Lancet Regional Health. Western Pacific, Vol 44, Iss , Pp 101017- (2024)
Summary: Background: Clinical management of Asian BRCA1 and BRCA2 pathogenic variants (PV) carriers remains challenging due to imprecise age-specific breast (BC) and ovarian cancer (OC) risks estimates. We aimed to refine these estimates using six mu
Externí odkaz:
https://doaj.org/article/98fce87ebcdf49c88046d79e3ec0f863
Autor:
Renee Salz, Nuno Saraiva-Agostinho, Emil Vorsteveld, Caspar I. van der Made, Simone Kersten, Merel Stemerdink, Jamie Allen, Pieter-Jan Volders, Sarah E. Hunt, Alexander Hoischen, Peter A.C. ’t Hoen
Publikováno v:
BMC Genomics, Vol 24, Iss 1, Pp 1-10 (2023)
Abstract Our incomplete knowledge of the human transcriptome impairs the detection of disease-causing variants, in particular if they affect transcripts only expressed under certain conditions. These transcripts are often lacking from reference trans
Externí odkaz:
https://doaj.org/article/d83c41876dc44e49a10f480b2d46d03a
Autor:
Leila Dorling, Sara Carvalho, Jamie Allen, Michael T. Parsons, Cristina Fortuno, Anna González-Neira, Stephan M. Heijl, Muriel A. Adank, Thomas U. Ahearn, Irene L. Andrulis, Päivi Auvinen, Heiko Becher, Matthias W. Beckmann, Sabine Behrens, Marina Bermisheva, Natalia V. Bogdanova, Stig E. Bojesen, Manjeet K. Bolla, Michael Bremer, Ignacio Briceno, Nicola J. Camp, Archie Campbell, Jose E. Castelao, Jenny Chang-Claude, Stephen J. Chanock, Georgia Chenevix-Trench, NBCS Collaborators, J. Margriet Collée, Kamila Czene, Joe Dennis, Thilo Dörk, Mikael Eriksson, D. Gareth Evans, Peter A. Fasching, Jonine Figueroa, Henrik Flyger, Marike Gabrielson, Manuela Gago-Dominguez, Montserrat García-Closas, Graham G. Giles, Gord Glendon, Pascal Guénel, Melanie Gündert, Andreas Hadjisavvas, Eric Hahnen, Per Hall, Ute Hamann, Elaine F. Harkness, Mikael Hartman, Frans B. L. Hogervorst, Antoinette Hollestelle, Reiner Hoppe, Anthony Howell, kConFab Investigators, SGBCC Investigators, Anna Jakubowska, Audrey Jung, Elza Khusnutdinova, Sung-Won Kim, Yon-Dschun Ko, Vessela N. Kristensen, Inge M. M. Lakeman, Jingmei Li, Annika Lindblom, Maria A. Loizidou, Artitaya Lophatananon, Jan Lubiński, Craig Luccarini, Michael J. Madsen, Arto Mannermaa, Mehdi Manoochehri, Sara Margolin, Dimitrios Mavroudis, Roger L. Milne, Nur Aishah Mohd Taib, Kenneth Muir, Heli Nevanlinna, William G. Newman, Jan C. Oosterwijk, Sue K. Park, Paolo Peterlongo, Paolo Radice, Emmanouil Saloustros, Elinor J. Sawyer, Rita K. Schmutzler, Mitul Shah, Xueling Sim, Melissa C. Southey, Harald Surowy, Maija Suvanto, Ian Tomlinson, Diana Torres, Thérèse Truong, Christi J. van Asperen, Regina Waltes, Qin Wang, Xiaohong R. Yang, Paul D. P. Pharoah, Marjanka K. Schmidt, Javier Benitez, Bas Vroling, Alison M. Dunning, Soo Hwang Teo, Anders Kvist, Miguel de la Hoya, Peter Devilee, Amanda B. Spurdle, Maaike P. G. Vreeswijk, Douglas F. Easton
Publikováno v:
Genome Medicine, Vol 14, Iss 1, Pp 1-17 (2022)
Abstract Background Protein truncating variants in ATM, BRCA1, BRCA2, CHEK2, and PALB2 are associated with increased breast cancer risk, but risks associated with missense variants in these genes are uncertain. Methods We analyzed data on 59,639 brea
Externí odkaz:
https://doaj.org/article/45c3e08cffb0447d8b0bfc7a2f10352e
Autor:
Roberto Nolla-Saltiel, Ana M. Geer, Helen R. Sharpe, Cameron D. Huke, Laurence J. Taylor, Thomas G. Linford-Wood, Ashleigh James, Jamie Allen, William Lewis, Alexander J. Blake, Jonathan McMaster, Deborah L. Kays
Publikováno v:
Inorganics, Vol 11, Iss 9, p 372 (2023)
Ruthenium complexes of phosphinocarboxamide ligands, and their use to form metallacycles using halide abstraction/deprotonation reactions are reported. Thus, [Ru(p-cym){PPh2C(=O)NHR}Cl2; R = iPr (1), Ph (2), p-tol (3)] and [Ru(p-cym){PPh2C(=O)N(R)C(=
Externí odkaz:
https://doaj.org/article/c1dd2bf796c7455eb66e6c943ffa61f9
Autor:
Na Li, Magnus Zethoven, Simone McInerny, Lisa Devereux, Yu-Kuan Huang, Niko Thio, Dane Cheasley, Sara Gutiérrez-Enríquez, Alejandro Moles-Fernández, Orland Diez, Tu Nguyen-Dumont, Melissa C. Southey, John L. Hopper, Jacques Simard, Martine Dumont, Penny Soucy, Alfons Meindl, Rita Schmutzler, Marjanka K. Schmidt, Muriel A. Adank, Irene L. Andrulis, Eric Hahnen, Christoph Engel, Fabienne Lesueur, Elodie Girard, Susan L. Neuhausen, Elad Ziv, Jamie Allen, Douglas F. Easton, Rodney J. Scott, Kylie L. Gorringe, Paul A. James, Ian G. Campbell
Publikováno v:
npj Breast Cancer, Vol 7, Iss 1, Pp 1-12 (2021)
Abstract Bi-allelic loss-of-function (LoF) variants in the base excision repair (BER) gene NTHL1 cause a high-risk hereditary multi-tumor syndrome that includes breast cancer, but the contribution of heterozygous variants to hereditary breast cancer
Externí odkaz:
https://doaj.org/article/97871f690ed34ff7804d2d19d439847c
Point-of-care ultrasound, anchoring bias, and acute pulmonary embolism: A cautionary tale and report
Autor:
Jamie Allen, DO, Brian R. Miller, DO, Margaret A. Vido, DO, Gregory A. Makar, DO, Kevin R. Roth, DO
Publikováno v:
Radiology Case Reports, Vol 15, Iss 12, Pp 2617-2620 (2020)
Emergency physicians often rely on heuristics to facilitate clinical decisions due to the large volume of patients they see daily. Consequently, they are vulnerable to error and bias. We report the case of a 69-year-old male that presented to the eme
Externí odkaz:
https://doaj.org/article/2a0653146a6d48fca525cb4e8eafb878
Autor:
Martine Dumont, Nana Weber-Lassalle, Charles Joly-Beauparlant, Corinna Ernst, Arnaud Droit, Bing-Jian Feng, Stéphane Dubois, Annie-Claude Collin-Deschesnes, Penny Soucy, Maxime Vallée, Frédéric Fournier, Audrey Lemaçon, Muriel A. Adank, Jamie Allen, Janine Altmüller, Norbert Arnold, Margreet G. E. M. Ausems, Riccardo Berutti, Manjeet K. Bolla, Shelley Bull, Sara Carvalho, Sten Cornelissen, Michael R. Dufault, Alison M. Dunning, Christoph Engel, Andrea Gehrig, Willemina R. R. Geurts-Giele, Christian Gieger, Jessica Green, Karl Hackmann, Mohamed Helmy, Julia Hentschel, Frans B. L. Hogervorst, Antoinette Hollestelle, Maartje J. Hooning, Judit Horváth, M. Arfan Ikram, Silke Kaulfuß, Renske Keeman, Da Kuang, Craig Luccarini, Wolfgang Maier, John W. M. Martens, Dieter Niederacher, Peter Nürnberg, Claus-Eric Ott, Annette Peters, Paul D. P. Pharoah, Alfredo Ramirez, Juliane Ramser, Steffi Riedel-Heller, Gunnar Schmidt, Mitul Shah, Martin Scherer, Antje Stäbler, Tim M. Strom, Christian Sutter, Holger Thiele, Christi J. van Asperen, Lizet van der Kolk, Rob B. van der Luijt, Alexander E. Volk, Michael Wagner, Quinten Waisfisz, Qin Wang, Shan Wang-Gohrke, Bernhard H. F. Weber, Genome of the Netherlands Project, GHS Study Group, Peter Devilee, Sean Tavtigian, Gary D. Bader, Alfons Meindl, David E. Goldgar, Irene L. Andrulis, Rita K. Schmutzler, Douglas F. Easton, Marjanka K. Schmidt, Eric Hahnen, Jacques Simard
Publikováno v:
Cancers, Vol 14, Iss 14, p 3363 (2022)
Rare variants in at least 10 genes, including BRCA1, BRCA2, PALB2, ATM, and CHEK2, are associated with increased risk of breast cancer; however, these variants, in combination with common variants identified through genome-wide association studies, e
Externí odkaz:
https://doaj.org/article/5080cce8aedf47dfa6606539b6a2f607
Publikováno v:
Clinical Practice and Cases in Emergency Medicine, Vol 5, Iss 1 (2021)
Introduction: Hyperhemolysis syndrome (HHS) is a rare complication of repeat blood transfusions in sickle cell disease (SCD). This can occur acutely or have a delayed presentation and often goes unrecognized in the emergency department (ED) due to it
Externí odkaz:
https://doaj.org/article/8137017f16ba4083a4ef21b3ee27ce7b
Autor:
Donato Ricci, Jamie Allen
Publikováno v:
Diseña, Iss 16 (2020)
This special issue explores how do we account for the sensitive, intimate ways in which our toolsets ‒ and our choices of these ‒ become the infrastructures that co-produce and co-constitute knowledge and meanings. Testing Against the World aimed
Externí odkaz:
https://doaj.org/article/9859224bcfca46eb8cc70f3d0b3e8180
Autor:
Elena Bueno-Martínez, Lara Sanoguera-Miralles, Alberto Valenzuela-Palomo, Víctor Lorca, Alicia Gómez-Sanz, Sara Carvalho, Jamie Allen, Mar Infante, Pedro Pérez-Segura, Conxi Lázaro, Douglas F. Easton, Peter Devilee, Maaike P. G. Vreeswijk, Miguel de la Hoya, Eladio A. Velasco
Publikováno v:
Cancers, Vol 13, Iss 11, p 2845 (2021)
RAD51D loss-of-function variants increase lifetime risk of breast and ovarian cancer. Splicing disruption is a frequent pathogenic mechanism associated with variants in susceptibility genes. Herein, we have assessed the splicing and clinical impact o
Externí odkaz:
https://doaj.org/article/5deb4585193a43be820cb5aa9e522c10