المؤلفون: Teresa N. Sparks, Mary E. Norton, Fionnuala Mone, Lyn S. Chitty, Matthew E. Hurles, J. L. Giordano, Luming Sun, Ronald J. Wapner, Dominic J. McMullan, Eamonn R. Maher, Ruth Y. Eberhardt, Jenny Lord, Tessa Homfray, Esther Dempsey, Mark D. Kilby

المصدر: Ultrasound Obstet Gynecol

مصطلحات موضوعية: medicine.medical_specialty, Hydrops Fetalis, Prenatal diagnosis, Article, Obstetrics and gynaecology, Predictive Value of Tests, Pregnancy, Prenatal Diagnosis, Hydrops fetalis, Exome Sequencing, Humans, Medicine, Radiology, Nuclear Medicine and imaging, Prospective Studies, Prospective cohort study, Exome, Exome sequencing, Radiological and Ultrasound Technology, business.industry, Obstetrics, High-Throughput Nucleotide Sequencing, Obstetrics and Gynecology, General Medicine, Microarray Analysis, medicine.disease, Reproductive Medicine, Karyotyping, Meta-analysis, Cohort, Female, business

وصف الملف: text

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::62df0743ba2f4b7469d0b9cc702821bf
https://doi.org/10.1002/uog.23652

المؤلفون: Ronald J. Wapner, DB Goldstein, Ruth Y. Eberhardt, Eamonn R. Maher, Kilby, Dominic J. McMullan, JL Giordano, Vimla Aggarwal, Rhiannon Mellis, LS Chitty, Matthew E. Hurles, Susan Hamilton

المصدر: BJOG

مصطلحات موضوعية: Adult, medicine.medical_specialty, Population, Trisomy, Ultrasonography, Prenatal, Article, Cohort Studies, symbols.namesake, Predictive Value of Tests, Pregnancy, Prenatal Diagnosis, Exome Sequencing, medicine, Humans, Prospective Studies, Prospective cohort study, education, Increased nuchal translucency, Fisher's exact test, Exome sequencing, Retrospective Studies, Fetus, education.field_of_study, Obstetrics, business.industry, Obstetrics and Gynecology, medicine.disease, United Kingdom, United States, Pregnancy Trimester, First, symbols, Gestation, Female, Nuchal Translucency Measurement, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::44e5f0f2738357711a7d725b169ff575
https://doi.org/10.1111/1471-0528.16869

المؤلفون: Judith Favier, Patricia L. M. Dahia, Anne-Paule Gimenez-Roqueplo, Pascal Pigny, Jean-Pierre Bayley, Amira Mohamed, Delphine Mirebeau-Prunier, Mercedes Robledo, Rodrigo A. Toledo, Nelly Burnichon, Anne Barlier, Francesca Schiavi, Roderick J. Clifton-Bligh, Alberto Cascón, Sophie Giraud, Laurene Ben Aim, Tonino Ercolino, Eamonn R. Maher

المساهمون: Institut Català de la Salut, [Ben Aim L] Genetics Department, Assistance Publique-Hôpitaux de Paris (AP-HP), Hôpital Européen Georges Pompidou, Paris, France. [Maher ER] Department of Medical Genetics, University of Cambridge and NIHR Cambridge Biomedical Research Centre, Cambridge, UK. [Cascon A] Hereditary Endocrine Cancer Group, CNIO, Madrid, Spain. [Barlier A] Laboratory of Molecular Biology, La Conception Hospital, Marseille, France. [Giraud S] Department of Genetics, Hospices Civils de Lyon, Bron, France. [Ercolino T] Endocrinology Unit, Azienda Ospedaliero-Universitaria Careggi, Firenze, Italy. [Toledo RA] CIBERONC, Gastrointestinal and Endocrine Tumors, Vall d’Hebron Institute of Oncology (VHIO), Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus, Maher, Eamonn R [0000-0002-6226-6918], Pigny, Pascal [0000-0003-3926-4487], Bayley, Jean Pierre [0000-0002-8288-0050], Burnichon, Nelly [0000-0001-7972-5845], Apollo - University of Cambridge Repository

المصدر: Scientia
Journal of Medical Genetics. BMJ PUBLISHING GROUP
Journal of Medical Genetics

مصطلحات موضوعية: medicine.medical_specialty, Neoplasms::Neoplasms by Histologic Type::Neoplasms, Germ Cell and Embryonal::Neuroectodermal Tumors::Neuroendocrine Tumors::Paraganglioma::Pheochromocytoma [DISEASES], databases, SDHB, Adrenal Gland Neoplasms, human genetics, Neoplasms::Neoplasms by Histologic Type::Neoplasms, Germ Cell and Embryonal::Neuroectodermal Tumors::Neuroendocrine Tumors::Paraganglioma [DISEASES], Context (language use), adrenal gland diseases, Pheochromocytoma, computer.software_genre, Glàndules suprarenals - Malalties - Aspectes genètics, genetic testing, Paraganglioma, neoplasias::neoplasias por tipo histológico::neoplasias de células germinales y embrionarias::tumores neuroectodérmicos::tumores neuroendocrinos::paraganglioma::feocromocitoma [ENFERMEDADES], Diagnosis::Diagnostic Techniques and Procedures::Clinical Laboratory Techniques::Genetic Testing [ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT], Genetics, medicine, Humans, Cancer genetics, Genetics (clinical), Germ-Line Mutation, Genetic testing, Hereditary Paraganglioma, Database, medicine.diagnostic_test, neoplasias::neoplasias por localización::neoplasias de las glándulas endocrinas::neoplasias de las glándulas suprarrenales [ENFERMEDADES], business.industry, neoplasias::neoplasias por tipo histológico::neoplasias de células germinales y embrionarias::tumores neuroectodérmicos::tumores neuroendocrinos::paraganglioma [ENFERMEDADES], Cromosomes humans - Anomalies - Diagnòstic, diagnóstico::técnicas y procedimientos diagnósticos::técnicas de laboratorio clínico::pruebas genéticas [TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS], medicine.disease, Human genetics, Succinate Dehydrogenase, genetic variation, Medical genetics, genetic, Leiden Open Variation Database, business, Neoplasms::Neoplasms by Site::Endocrine Gland Neoplasms::Adrenal Gland Neoplasms [DISEASES], computer, Tumors neuroendocrins - Aspectes genètics

وصف الملف: application/pdf; text/xml

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::27bcc940176677a14752394cc9be5864
https://hdl.handle.net/11351/9696

المؤلفون: Marjolijn C.J. Jongmans, Rosalyn Jewell, Léa Guerrini-Rousseau, Lisa Golmard, Till Milde, Katharina Wimmer, Eamonn R. Maher, Franck Bourdeaut, Kathy Pritchard-Jones, Hélène Cavé, Laurence Brugières, Christian P. Kratz, Catriona Duncan, Sam Behjati, Marion Gauthier-Villars, Kristian W. Pajtler

المصدر: The Lancet Child & Adolescent Health. 5:142-154

مصطلحات موضوعية: Male, medicine.medical_specialty, Adolescent, Genetic counseling, MEDLINE, Cancer therapy, Medical Oncology, Risk Assessment, 03 medical and health sciences, 0302 clinical medicine, Neoplasms, 030225 pediatrics, Developmental and Educational Psychology, Humans, Medicine, Genetic Predisposition to Disease, Genetic Testing, 030212 general & internal medicine, Child, Intensive care medicine, Genetic testing, Cancer prevention, medicine.diagnostic_test, business.industry, Paediatric oncology, Cancer, medicine.disease, Pediatrics, Perinatology and Child Health, Female, business, Risk assessment

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::35aac8112439ae13604c40a095d7dcd9
https://doi.org/10.1016/s2352-4642(20)30275-3

المؤلفون: Matthew E. Hurles, Eamonn R. Maher, Bethany K. Stott, Stephanie Allen, Dominic J. McMullan, E Quinlan-Jones, Susan Hamilton, Fionnuala Mone, Mark D. Kilby, Anna N. Seale

المصدر: Fetal Diagnosis and Therapy. 48:112-119

مصطلحات موضوعية: Embryology, medicine.medical_specialty, 030219 obstetrics & reproductive medicine, Heart disease, business.industry, Obstetrics and Gynecology, Aneuploidy, Prenatal diagnosis, General Medicine, medicine.disease, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Pediatrics, Perinatology and Child Health, Medicine, Radiology, Nuclear Medicine and imaging, 030212 general & internal medicine, Genetic diagnosis, business, Prospective cohort study, Uncertain significance, Exome sequencing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a9249ce5ec361c96c62b127f15acec7e
https://doi.org/10.1159/000512488

المؤلفون: Lyn S. Chitty, Ronald J. Wapner, Matthew E. Hurles, Dominic J. McMullan, Jenny Lord, Mark D. Kilby, Ruth Y. Eberhardt, Fionnuala Mone, R. K. Morris, Eamonn R. Maher, J. L. Giordano

المصدر: Ultrasound in Obstetrics & Gynecology. 57:43-51

مصطلحات موضوعية: Heart Defects, Congenital, medicine.medical_specialty, Heart disease, Heart malformation, Prenatal diagnosis, 03 medical and health sciences, 0302 clinical medicine, Pregnancy, Prenatal Diagnosis, Internal medicine, Exome Sequencing, Humans, Medicine, Radiology, Nuclear Medicine and imaging, Prospective Studies, cardiovascular diseases, 030212 general & internal medicine, Prospective cohort study, Exome sequencing, 030219 obstetrics & reproductive medicine, Radiological and Ultrasound Technology, business.industry, Genitourinary system, Obstetrics and Gynecology, General Medicine, Microarray Analysis, medicine.disease, 3. Good health, Reproductive Medicine, Karyotyping, Cohort, Female, business, Kabuki syndrome

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a4d0c3a63747a4126872c8a6ecfdf3a0
https://doi.org/10.1002/uog.22072

المؤلفون: Sumit Karia, Stefan J. Marciniak, Maria Ta Wetscherek, Allanah Barker, Simon Holden, Martin D. Knolle, Judith Babar, Eamonn R. Maher, Hannah Lee Grimes, Jurgen Herre

المصدر: Thorax

مصطلحات موضوعية: Pulmonary and Respiratory Medicine, Familial spontaneous pneumothorax, medicine.medical_specialty, business.industry, Pneumothorax, Brief Communication, Multidisciplinary team, medicine.disease, Precision medicine, pleural disease, Radiological weapon, Humans, Medicine, Precision Medicine, business, Intensive care medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::65c41a2300c4085cb9554870abeeaa05
https://doi.org/10.1136/thoraxjnl-2021-217210

المؤلفون: Elizabeth Alexander, Joan Getty, Chitra Sethuraman, Guy Makin, Elke M van Veen, Eamonn R. Maher, D. Gareth Evans, Vivian Tang, Emma R. Woodward, Adele Fairclough, Zerin Hyder, Mike Groom

المصدر: Journal of Medical Genetics. 58:581-585

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, TRIM28, Cytogenetics, Perilobar nephroblastomatosis, Cancer, Biology, medicine.disease, Germline, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Germline mutation, 030220 oncology & carcinogenesis, Genetics, Cancer research, medicine, Nephroblastomatosis, Gene, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::6ccce18a1511c518c367518fb6090928
https://doi.org/10.1136/jmedgenet-2020-107087

المؤلفون: Helen Sewell, Nick Hornigold, Naveen S. Vasudev, Eamonn R. Maher, Margaret A. Knowles, Mini Menon, Tsutomu Fukuwatari, Yasser Riazalhosseini, Alvis Brazma, Karen R. Dunn, Selina Bhattarai, Rachel A. Craven, Rosamonde E. Banks, Adrian L. Harris, Julie E. Burns, Alexandre Zougman, Peter Selby, Lara Feulner, Ghislaine Scelo, Michael Shires, Sebastian Trainor, Rebecca Shreeve, Joanne Brown, Mark Lathrop

المساهمون: Vasudev, Naveen S [0000-0001-8470-7481], Apollo - University of Cambridge Repository, Vasudev, Naveen S. [0000-0001-8470-7481]

المصدر: British Journal of Cancer

مصطلحات موضوعية: Proteomics, Cancer Research, Kynurenine pathway, 631/67/589/1588/1351, Nicotinamide phosphoribosyltransferase, Chromophobe cell, Biology, 631/67/2327, Article, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Immune system, Kynurenine 3-Monooxygenase, Downregulation and upregulation, Renal cell carcinoma, Cell Line, Tumor, medicine, Humans, 3-Hydroxyanthranilate 3,4-Dioxygenase, Nicotinamide Phosphoribosyltransferase, Carcinoma, Renal Cell, Kynurenine, 030304 developmental biology, 0303 health sciences, Gene Expression Profiling, medicine.disease, Cancer metabolism, Gene Expression Regulation, Neoplastic, Oncology, chemistry, 030220 oncology & carcinogenesis, biology.protein, Cancer research, Phosphoribosyltransferase, Cytokines, Tumor Escape, Metabolic Networks and Pathways

وصف الملف: application/pdf; text/xml; application/zip

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf38d744f03fe1353bc8ab9676fde672
http://europepmc.org/articles/PMC7341846

المؤلفون: Judith Balmaña, Douglas F. Easton, Adeline Cuggia, Kenneth Offit, Heli Nevanlinna, Judy Garber, Florentia Fostira, Kelly A. Metcalfe, Jana Soukupova, Carlo Tondini, Orland Diez, George Zogopoulos, James Scarth, Marketa Janatova, Tuya Pal, Mark E. Robson, James E. Redman, Laura Ottini, Patrick Concannon, Ann S.G. Lee, Åke Borg, Anders Kvist, Sandra Schneider, Valentina Silvestri, Christoph Engel, Rachel Silva-Smith, Antoine De Pauw, Tu Nguyen-Dumont, Inga Plaskocinska, Katherine L. Nathanson, Hans Ehrencrona, Susan J. Ramus, Rita K. Schmutzler, Craig Luccarini, Mitul Shah, Sophia George, Goska Leslie, Jeffrey N. Weitzel, Irene Konstantopoulou, Carl Blomqvist, William D. Foulkes, Georgia Chenevix-Trench, Marc Tischkowitz, Thomas van Overeem Hansen, Pei Sze Ng, Kathleen Claes, Ellen L. Goode, Olufunmilayo I. Olopade, Sarah M. Nielsen, Andy C. H. Lee, Melissa C. Southey, Ramunas Janavicius, Jill S. Dolinsky, Alfons Meindl, Paolo Peterlongo, Julie O. Culver, Kristiina Aittomäki, Robert Winqvist, Alison H. Trainer, Tuomas Heikkinen, Paolo Radice, David E. Goldgar, Florian Obermair, Marie E. Wood, Jonine L. Bernstein, Sook-Yee Yoon, Paul D.P. Pharoah, Christopher R. Hake, Claude Houdayer, Irene L. Andrulis, Aaron Elliott, Zaki El-Haffaf, Petra Kleiblova, Jukka S. Moilanen, Judith Hurley, Antonis C. Antoniou, Siranoush Manoukian, Fergus J. Couch, Anne-Bine Skytte, Susan L. Neuhausen, Gary Unzeitig, D. Gareth Evans, Eamonn R. Maher, John L. Hopper, Rachel McFarland, James A. G. Whitworth, Judith Penkert, Julian Barwell, Susan M. Domchek, Zdenek Kleibl, Leila Dorling, Lisa Golmard, Peter Ang, Brennan Decker, Cheng Har Yip, Nur Aishah Taib, Vilius Rudaitis, Julian Adlard, Xin Yang, Jamie Allen, Lydia Usha, Francesca Damiola, Amal Yussuf, Katri Pylkäs, Alicja Doroszuk, Eric Hahnen, Muriel A. Adank, Karen A. Pooley, Soo Hwang Teo, Kristie Bobolis, Paul A. James, Alison M. Dunning, Holly LaDuca, Stephen B. Gruber, Wendy McKinnon, Fabienne Lesueur, Lucy Side, Arto Mannermaa, Thomas P. Slavin

المساهمون: Medicum, Kristiina Aittomäki / Principal Investigator, HUSLAB, Department of Medical and Clinical Genetics, University of Helsinki, HUS Comprehensive Cancer Center, Department of Oncology, Clinicum, Department of Obstetrics and Gynecology, HUS Gynecology and Obstetrics

المصدر: Yang, X, Leslie, G, Doroszuk, A, Schneider, S, Allen, J, Decker, B, Dunning, A M, Redman, J, Scarth, J, Plaskocinska, I, Luccarini, C, Shah, M, Pooley, K, Dorling, L, Leei, A, Adank, M A, Adlard, J, Aittomäki, K, Andrulis, I L, Ang, P, Barwell, J, Bernstein, J L, Bobolis, K, Borg, Å, Blomqvist, C, Claes, K B M, Concannon, P, Cuggia, A, Culver, J O, Damiola, F, De Pauw, A, Diez, O, Dolinsky, J S, Domchek, S M, Engel, C, Evans, D G, Fostira, F, Garber, J, Golmard, L, Goode, E L, Gruber, S B, Hahnen, E, Hake, C, Heikkinen, T, Hurley, J E, Janavicius, R, Kleibl, Z, Kleiblova, P, Konstantopoulou, I, Kvist, A, Laduca, H, Lee, A S G, Lesueur, F, Maher, E R, Mannermaa, A, Manoukian, S, McFarland, R, McKinnon, W, Meindl, A, Metcalfe, K, Taib, N A M, Moilanen, J, Nathanson, K L, Neuhausen, S, Ng, P S, Nguyen-Dumont, T, Nielsen, S M, Obermair, F, Offit, K, Olopade, O I, Ottini, L, Penkert, J, Pylkäs, K, Radice, P, Ramus, S J, Rudaitis, V, Side, L, Silva-Smith, R, Silvestri, V, Skytte, A B, Slavin, T, Soukupova, J, Tondini, C, Trainer, A H, Unzeitig, G, Usha, L, Van Overeem Hansen, T, Whitworth, J, Wood, M, Yip, C H, Yoon, S Y, Yussuf, A, Zogopoulos, G, Goldgar, D, Hopper, J L, Chenevix-Trench, G, Pharoah, P, George, S H L, Balmaña, J, Houdayer, C, James, P, El-Haffaf, Z, Ehrencrona, H, Janatova, M, Peterlongo, P, Nevanlinna, H, Schmutzler, R, Teo, S H, Robson, M, Pal, T, Couch, F, Weitzel, J N, Elliott, A, Southey, M, Winqvist, R, Easton, D F, Foulkes, W D, Antoniou, A C & Tischkowitz, M 2020, ' Cancer risks associated with germline PALB2 pathogenic variants : An international study of 524 families ', Journal of Clinical Oncology, vol. 38, no. 7, pp. 674-685 . https://doi.org/10.1200/JCO.19.01907

مصطلحات موضوعية: 0301 basic medicine, Oncology, PENETRANCE, Cancer Research, medicine.medical_specialty, PALB2, 3122 Cancers, ASCERTAINMENT SAMPLING PROBLEM, Germline, 03 medical and health sciences, 0302 clinical medicine, Germline mutation, Breast cancer, Prostate, Internal medicine, Pancreatic cancer, HISTORY, medicine, BREAST-CANCER, business.industry, BRCA2-INTERACTING PROTEIN PALB2, Cancer, OVARIAN, medicine.disease, BRCA2, PANCREATIC-CANCER, 3. Good health, SUSCEPTIBILITY GENE-MUTATIONS, 030104 developmental biology, medicine.anatomical_structure, RESOLUTION, 030220 oncology & carcinogenesis, Palb2, pathogenic variants, cancer risk, business, Ovarian cancer

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa6efd9d1ddf683873bdcb0c64763fb9
https://doi.org/10.1200/jco.19.01907