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Results: 31
Boosting care and knowledge about hereditary cancer
Janet R Vos, Lisette Giepmans, Claas Röhl, Nicoline Geverink, Nicoline Hoogerbrugge, ERN GENTURIS
Feb 07, 2020
Approximately 27-36 million patients in Europe have one of the ~ 5.000-8.000 known rare diseases. These patients often do not receive the care they need or they have a substantial delay from diagnosis to treatment. In March...
Cross border health care European Reference Network Genetic Hereditary cancer Rare Diseases Syndrome Clinical Competence Databases Factual Europe Genetic Predisposition to Disease Genetic Testing Humans Information Dissemination Information Services International Cooperation Medical Oncology Neoplastic Syndromes Hereditary Quality Improvement Rare Diseases Registries Remote Consultation Time-to-Treatment
The need for widely available genomic testing in rare eye diseases
Graeme C Black, Panagiotis Sergouniotis, Andrea Sodi, Bart P Leroy, Caroline Van Cauwenbergh, Petra Liskova, Karen Grønskov, Artur Klett, Susanne Kohl, Gita Taurina, Marius Sukys, Lonneke Haer-Wigman, Katarzyna Nowomiejska, João Pedro Marques, Dorothée Leroux, Frans PM Cremers, Elfride De Baere, Hélène Dollfus, ERN-EYE study group
May 17, 2021
BACKGROUND: Rare Eye Diseases (RED) are the leading cause of visual impairment and blindness for children and young adults in Europe. This heterogeneous group of conditions includes over 900 disorders ranging from relatively...
Solve-RD
Birte Zurek, Kornelia Ellwanger, Lisenka ELM Vissers, Rebecca Schüle, Matthis Synofzik, Ana Töpf, Richarda M de Voer, Steven Laurie, Leslie Matalonga, Christian Gilissen, Stephan Ossowski, Peter AC 't Hoen, Antonio Vitobello, Julia M Schulze-Hentrich, Olaf Riess, Han G Brunner, Anthony J Brookes, Ana Rath, Gisèle Bonne, Gulcin Gumus, Alain Verloes, Nicoline Hoogerbrugge, Teresinha Evangelista, Tina Harmuth, Morris Swertz, Dylan Spalding, Alexander Hoischen, Sergi Beltran, Holm Graessner, Solve-RD Consortium
Sep 15, 2021
For the first time in Europe hundreds of rare disease (RD) experts team up to actively share and jointly analyse existing patient's data. Solve-RD is a Horizon 2020-supported EU flagship project bringing together >300...
Guidelines for the Li-Fraumeni and heritable TP53-related cancer syndromes.
Thierry Frebourg, Svetlana Bajalica Lagercrantz, Carla Oliveira, Rita Magenheim, D Gareth Evans, European Reference Network GENTURIS
May 26, 2021
Fifty years after the recognition of the Li-Fraumeni syndrome (LFS), our perception of cancers related to germline alterations of TP53 has drastically changed: (i) germline TP53 alterations are often identified among children...
The genetic intractability of Symbiodinium microadriaticum to standard algal transformation methods.
Modern transformation and genome editing techniques have shown great success across a broad variety of organisms. However, no study of successfully applied genome editing has been reported in a dinoflagellate despite the first...
Patients with mutations of the Thyroid hormone beta-receptor show an ADHD-like phenotype for performance monitoring
Jan Uter, Marcus Heldmann, Berenike Rogge, Martina Obst, Julia Steinhardt, Georg Brabant, Carla Moran, Krishna Chatterjee, Thomas F Münte
Apr 30, 2020
Resistance to thyroid hormone beta (RTHβ) is a syndrome of reduced responsiveness of peripheral tissue to thyroid hormone, caused by mutations in the thyroid hormone receptor beta (THRB). Its cognitive phenotype has been...
ADHD-like symptoms Action monitoring Event-related potentials Resistance to thyroid hormones TH beta receptor Thyroid hormones (TH) Adolescent Adult Aged Attention Deficit Disorder with Hyperactivity Electroencephalography Evoked Potentials Female Humans Male Middle Aged Mutation Phenotype Thyroid Hormone Receptors beta Thyroid Hormone Resistance Syndrome Young Adult
Sensitivity of Mountain Wave Drag Estimates on Separation Methods and Proposed Improvements
Zuzana Procházková, Christopher G. Kruse, M. Joan Alexander, Lars Hoffmann, Julio T. Bacmeister, Laura Holt, Corwin Wright, Kaoru Sato, Sonja Gisinger, Manfred Ern, Markus Geldenhuys, Peter Preusse, Petr Šácha
Jul 01, 2023
Internal gravity waves (GWs) are ubiquitous in the atmosphere, making significant contributions to the mesoscale motions. Since the majority of their spectrum is unresolved in global circulation models, their effects need to...
Cancer Surveillance Guideline for individuals with PTEN hamartoma tumour syndrome.
Marc Tischkowitz, Chrystelle Colas, Sjaak Pouwels, Nicoline Hoogerbrugge, PHTS Guideline Development Group, European Reference Network GENTURIS
Apr 29, 2020
PTEN hamartoma tumour syndrome is a diverse multi-system disorder predisposing to the development of hamartomatous growths, increasing risk of breast, thyroid, renal cancer, and possibly increasing risk of endometrial cancer...
Non-contrast MRI can accurately characterize adnexal masses
Hilal Sahin, Camilla Panico, Stephan Ursprung, Vittorio Simeon, Paolo Chiodini, Amy Frary, Bruno Carmo, Janette Smith, Sue Freeman, Mercedes Jimenez-Linan, Helen Bolton, Krishnayan Haldar, Joo Ern Ang, Caroline Reinhold, Evis Sala, Helen Addley
Aug 26, 2021
Abstract: Objective: To determine the accuracy of interpretation of a non-contrast MRI protocol in characterizing adnexal masses. Methods and materials: Two hundred ninety-one patients (350 adnexal masses) who underwent...
A mosaic PIK3CA variant in a young adult with diffuse gastric cancer
Sensitivity of Mountain Wave Drag Estimates on Separation Methods and Proposed Improvements
Zuzana Procházková, Christopher G. Kruse, M. Joan Alexander, Lars Hoffmann, Julio T. Bacmeister, Laura Holt, Corwin Wright, Kaoru Sato, Sonja Gisinger, Manfred Ern, Markus Geldenhuys, Peter Preusse, Petr Šácha
Jul 01, 2023
Internal gravity waves (GWs) are ubiquitous in the atmosphere, making significant contributions to the mesoscale motions. Since the majority of their spectrum is unresolved in global circulation models, their effects need to...
Observed and Modeled Mountain Waves from the Surface to the Mesosphere Near the Drake Passage
Christopher Kruse, M. Joan Alexander, Lars Hoffmann, Annelize van Niekerk, Inna Polichtchouk, Julio Bacmeister, Laura A. Holt, Riwal Plougonven, Petr Sacha, Corwin Wright, Kaoru Sato, Ryosuke Shibuya, Sonja Gisinger, Manfred Ern, Catrin Meyer, Olaf Stein
Apr 01, 2022
Four state-of-the-science numerical weather prediction (NWP) models were used to perform mountain wave (MW)-resolving hindcasts over the Drake Passage of a 10-day period in 2010 with numerous observed MW cases. The Integrated...
Genetic transformation of the dinoflagellate chloroplast.
Isabel C Nimmo, Adrian C Barbrook, Imen Lassadi, Jit Ern Chen, Katrin Geisler, Alison G Smith, Manuel Aranda, Saul Purton, Ross F Waller, R Ellen R Nisbet, Christopher J Howe
Jul 15, 2019
Coral reefs are some of the most important and ecologically diverse marine environments. At the base of the reef ecosystem are dinoflagellate algae, which live symbiotically within coral cells. Efforts to understand the...
An ontological foundation for ocular phenotypes and rare eye diseases.
Panagiotis I Sergouniotis, Emmanuel Maxime, Dorothée Leroux, Annie Olry, Rachel Thompson, Ana Rath, Peter N Robinson, Hélène Dollfus, ERN-EYE Ontology Study Group
Feb 15, 2019
BACKGROUND: The optical accessibility of the eye and technological advances in ophthalmic diagnostics have put ophthalmology at the forefront of data-driven medicine. The focus of this study is rare eye disorders, a group of...
Non-contrast MRI can accurately characterize adnexal masses
Hilal Sahin, Camilla Panico, Stephan Ursprung, Vittorio Simeon, Paolo Chiodini, Amy Frary, Bruno Carmo, Janette Smith, Sue Freeman, Mercedes Jimenez-Linan, Helen Bolton, Krishnayan Haldar, Joo Ern Ang, Caroline Reinhold, Evis Sala, Helen Addley
Jan 15, 2021
OBJECTIVE: To determine the accuracy of interpretation of a non-contrast MRI protocol in characterizing adnexal masses. METHODS AND MATERIALS: Two hundred ninety-one patients (350 adnexal masses) who underwent gynecological MRI...
Ultrasound-guided targeted biopsies of CT-based radiomic tumour habitats
Lucian Beer, Paula Martin-Gonzalez, Maria Delgado-Ortet, Marika Reinius, Leonardo Rundo, Ramona Woitek, Stephan Ursprung, Lorena Escudero, Hilal Sahin, Ionut-Gabriel Funingana, Joo-Ern Ang, Mercedes Jimenez-Linan, Tristan Lawton, Gaurav Phadke, Sally Davey, Nghia Q Nguyen, Florian Markowetz, James D Brenton, Mireia Crispin-Ortuzar, Helen Addley, Evis Sala
Dec 02, 2020
Ultrasound-guided targeted biopsies of CT-based radiomic tumour habitats
Lucian Beer, Paula Martin-Gonzalez, Maria Delgado-Ortet, Marika Reinius, Leonardo Rundo, Ramona Woitek, Stephan Ursprung, Lorena Escudero, Hilal Sahin, Ionut-Gabriel Funingana, Joo-Ern Ang, Mercedes Jimenez-Linan, Tristan Lawton, Gaurav Phadke, Sally Davey, Nghia Q. Nguyen, Florian Markowetz, James D. Brenton, Mireia Crispin-Ortuzar, Helen Addley, Evis Sala
May 20, 2021
Plasma Metabolomic Changes following PI3K Inhibition as Pharmacodynamic Biomarkers
Observed and Modeled Mountain Waves from the Surface to the Mesosphere Near the Drake Passage
Christopher Kruse, M. Joan Alexander, Lars Hoffmann, Annelize van Niekerk, Inna Polichtchouk, Julio Bacmeister, Laura A. Holt, Riwal Plougonven, Petr Sacha, Corwin Wright, Kaoru Sato, Ryosuke Shibuya, Sonja Gisinger, Manfred Ern, Catrin Meyer, Olaf Stein
Apr 01, 2022
Four state-of-the-science numerical weather prediction (NWP) models were used to perform mountain wave (MW)-resolving hindcasts over the Drake Passage of a 10-day period in 2010 with numerous observed MW cases. The Integrated...
First-in-human phase I study of pictilisib (GDC-0941), a potent pan-class I phosphatidylinositol-3-kinase (PI3K) inhibitor, in patients with advanced solid tumors.
Debashis Sarker, Joo Ern Ang, Richard Baird, Rebecca Kristeleit, Krunal Shah, Victor Moreno, Paul A Clarke, Florence I Raynaud, Gallia Levy, Joseph A Ware, Kathryn Mazina, Ray Lin, Jenny Wu, Jill Fredrickson, Jill M Spoerke, Mark R Lackner, Yibing Yan, Lori S Friedman, Stan B Kaye, Mika K Derynck, Paul Workman, Johann S de Bono
Jan 26, 2015
Administration Oral Adult Aged Dose-Response Relationship Drug Drug-Related Side Effects and Adverse Reactions Female Humans Indazoles Male Maximum Tolerated Dose Middle Aged Neoplasms Phosphatidylinositol 3-Kinases Phosphoinositide-3 Kinase Inhibitors Protein Kinase Inhibitors Proto-Oncogene Proteins B-raf Sulfonamides
Characterisation of protein-truncating and missense variants in PALB2 in 15 768 women from Malaysia and Singapore.
Pei Sze Ng, Rick ACM Boonen, Eldarina Wijaya, Chan Eng Chong, Milan Sharma, Sabine Knaup, Shivaani Mariapun, Weang Kee Ho, Joanna Lim, Sook-Yee Yoon, Nur Aishah Mohd Taib, Mee Hoong See, Jingmei Li, Swee Ho Lim, Ern Yu Tan, Benita Kiat-Tee Tan, Su-Ming Tan, Veronique Kiat-Mien Tan, Rob Martinus van Dam, Kartini Rahmat, Cheng Har Yip, Sara Carvalho, Craig Luccarini, Caroline Baynes, Alison M Dunning, Antonis Antoniou, Haico Van Attikum, Douglas F Easton, Mikael Hartman, Soo Hwang Teo
May 13, 2021
BACKGROUND: Rare protein-truncating variants (PTVs) in partner and localiser of BRCA2 (PALB2) confer increased risk to breast cancer, but relatively few studies have reported the prevalence in South-East Asian populations. Here...
Solving patients with rare diseases through programmatic reanalysis of genome-phenome data.
Leslie Matalonga, Carles Hernández-Ferrer, Davide Piscia, Solve-RD SNV-indel working group, Rebecca Schüle, Matthis Synofzik, Ana Töpf, Lisenka ELM Vissers, Richarda de Voer, Solve-RD DITF-GENTURIS, Solve-RD DITF-ITHACA, Solve-RD DITF-euroNMD, Solve-RD DITF-RND, Raul Tonda, Steven Laurie, Marcos Fernandez-Callejo, Daniel Picó, Carles Garcia-Linares, Anastasios Papakonstantinou, Alberto Corvó, Ricky Joshi, Hector Diez, Ivo Gut, Alexander Hoischen, Holm Graessner, Sergi Beltran, Solve-RD Consortia
Sep 15, 2021
Characterisation of protein-truncating and missense variants in PALB2 in 15 768 women from Malaysia and Singapore
Pei Sze Ng, Rick ACM Boonen, Eldarina Wijaya, Chan Eng Chong, Milan Sharma, Sabine Knaup, Shivaani Mariapun, Weang Kee Ho, Joanna Lim, Sook-Yee Yoon, Nur Aishah Mohd Taib, Mee Hoong See, Jingmei Li, Swee Ho Lim, Ern Yu Tan, Benita Kiat-Tee Tan, Su-Ming Tan, Veronique Kiat-Mien Tan, Rob Martinus van Dam, Kartini Rahmat, Cheng Har Yip, Sara Carvalho, Craig Luccarini, Caroline Baynes, Alison M Dunning, Antonis Antoniou, Haico Van Attikum, Douglas F Easton, Mikael Hartman, Soo Hwang Teo
Apr 07, 2021
Germline breast cancer susceptibility genes, tumor characteristics, and survival
Peh Joo Ho, Alexis J. Khng, Hui Wen Loh, Weang-Kee Ho, Cheng Har Yip, Nur Aishah Mohd-Taib, Veronique Kiak Mien Tan, Benita Kiat-Tee Tan, Su-Ming Tan, Ern Yu Tan, Swee Ho Lim, Suniza Jamaris, Yirong Sim, Fuh Yong Wong, Joanne Ngeow, Elaine Hsuen Lim, Mei Chee Tai, Eldarina Azfar Wijaya, Soo Chin Lee, Ching Wan Chan, Shaik Ahmad Buhari, Patrick M. Y. Chan, Juliana J. C. Chen, Jaime Chin Mui Seah, Wai Peng Lee, Chi Wei Mok, Geok Hoon Lim, Evan Woo, Sung-Won Kim, Jong Won Lee, Min Hyuk Lee, Sue K. Park, Alison M. Dunning, Douglas F. Easton, Marjanka K. Schmidt, Soo-Hwang Teo, Jingmei Li, Mikael Hartman
Dec 15, 2021
Abstract: Background: Mutations in certain genes are known to increase breast cancer risk. We study the relevance of rare protein-truncating variants (PTVs) that may result in loss-of-function in breast cancer susceptibility...
Germline breast cancer susceptibility genes, tumor characteristics, and survival.
Peh Joo Ho, Alexis J Khng, Hui Wen Loh, Weang-Kee Ho, Cheng Har Yip, Nur Aishah Mohd-Taib, Veronique Kiak Mien Tan, Benita Kiat-Tee Tan, Su-Ming Tan, Ern Yu Tan, Swee Ho Lim, Suniza Jamaris, Yirong Sim, Fuh Yong Wong, Joanne Ngeow, Elaine Hsuen Lim, Mei Chee Tai, Eldarina Azfar Wijaya, Soo Chin Lee, Ching Wan Chan, Shaik Ahmad Buhari, Patrick MY Chan, Juliana JC Chen, Jaime Chin Mui Seah, Wai Peng Lee, Chi Wei Mok, Geok Hoon Lim, Evan Woo, Sung-Won Kim, Jong Won Lee, Min Hyuk Lee, Sue K Park, Alison M Dunning, Douglas F Easton, Marjanka K Schmidt, Soo-Hwang Teo, Jingmei Li, Mikael Hartman
Jan 10, 2022
BACKGROUND: Mutations in certain genes are known to increase breast cancer risk. We study the relevance of rare protein-truncating variants (PTVs) that may result in loss-of-function in breast cancer susceptibility genes on...
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