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1دورية أكاديمية
المؤلفون: Yunjia Chen, Yulong Fu, Magdalena Koczkowska, Tom Callens, Alicia Gomes, Jian Liu, William Bradley, Bryce Brown, Brandon Shaw, Daniela D’Agostino, Chuanhua Fu, Deeann Wallis
المصدر: Cancers, Vol 16, Iss 13, p 2406 (2024)
مصطلحات موضوعية: NF1, splicing variant, exon skipping, genotype–phenotype correlation, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282
وصف الملف: electronic resource
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المؤلفون: Scott R. Plotkin, Ludwine Messiaen, Eric Legius, Patrice Pancza, Robert A. Avery, Jaishri O. Blakeley, Dusica Babovic-Vuksanovic, Rosalie Ferner, Michael J. Fisher, Jan M. Friedman, Marco Giovannini, David H. Gutmann, Clemens Oliver Hanemann, Michel Kalamarides, Hildegard Kehrer-Sawatzki, Bruce R. Korf, Victor-Felix Mautner, Mia MacCollin, Laura Papi, Katherine A. Rauen, Vincent Riccardi, Elizabeth Schorry, Miriam J. Smith, Anat Stemmer-Rachamimov, David A. Stevenson, Nicole J. Ullrich, David Viskochil, Katharina Wimmer, Kaleb Yohay, Susan M. Huson, Pierre Wolkenstein, D. Gareth Evans, Monique Anten, Arthur Aylsworth, Diana Baralle, Sebastien Barbarot, Fred Barker, Shay Ben-Shachar, Amanda Bergner, Didier Bessis, Ignacio Blanco, Catherine Cassiman, Patricia Ciavarelli, Maurizio Clementi, Thierry Frébourg, Alicia Gomes, Dorothy Halliday, Chris Hammond Helen Hanson Arvid Heiberg, Pascal Joly, Justin T. Jordan, Matthias Karajannis, Daniela Kroshinsky, Margarita Larralde, Conxi Lázaro, Lu Le, Michael Link, Robert Listernick, Conor Mallucci, Vanessa L. Merker, Christopher Moertel, Amy Mueller, Joanne Ngeow, Rianne Oostenbrink, Roger Packer, Allyson Parry, Juha Peltonen, Dominique Pichard, Bruce Poppe, Nilton Rezende, Luiz Oswaldo Rodrigues, Tena Rosser, Martino Ruggieri, Eduard Serra, Verena Steinke-Lange, Stavros Michael Stivaros, Amy Taylor, Jaan Toelen, James Tonsgard, Eva Trevisson, Meena Upadhyaya, Ali Varan, Meredith Wilson, Hao Wu, Gelareh Zadeh
المساهمون: Pediatrics
المصدر: Genetics in Medicine, 24(9), 1967-1977. Lippincott Williams & Wilkins
مصطلحات موضوعية: Neurofibromatosis 2, Consensus, Neurofibromatosis 1, Skin Neoplasms, Neurofibromatoses, NF2, Neurofibromatosis, SMARCB1, Schwannomatosis, lztr1, Humans, Genetics (clinical), Neurilemmoma
وصف الملف: Print-Electronic; application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8af050a10db9d27e206369bb2b357dc2
https://pure.eur.nl/en/publications/502b5714-4be0-4958-9a29-b8eb1490dc2c -
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المؤلفون: Magdalena Koczkowska, Yunjia Chen, Jing Xie, Tom Callens, Alicia Gomes, Katharina Wimmer, Ludwine M. Messiaen
المصدر: Human Genetics.
مصطلحات موضوعية: Genetics, Genetics (clinical)
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المؤلفون: Ludwine Messiaen, Klaus Oberhuber, Michael S. Jackson, Yunjia Chen, Katharina Wimmer, Markus A. Keller, Juan A. Perez-Valencia, Johannes Zschocke, Richard Gallon, Jakob Koch, John Burn, Alicia Gomes, Mauro Santibanez-Koref
المصدر: Genetics in Medicine
مصطلحات موضوعية: Canada, congenital, hereditary, and neonatal diseases and abnormalities, Pediatrics, medicine.medical_specialty, Neurofibromatosis 1, Genetic counseling, DNA Mismatch Repair, neurofibromatosis type 1, Article, Germline, Neoplastic Syndromes, Hereditary, constitutional mismatch repair deficiency, PMS2, Humans, childhood cancer, Medicine, Neurofibromatosis, Child, Genetics (clinical), Adaptor Proteins, Signal Transducing, Mismatch Repair Endonuclease PMS2, Retrospective Studies, founder variant, Brain Neoplasms, business.industry, Microsatellite instability, medicine.disease, Europe, MSH6, North America, microsatellite instability, DNA mismatch repair, Colorectal Neoplasms, business, Founder effect
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المؤلفون: Giulio Piluso, Katharina Wimmer, Veronica Saletti, Eniko K. Pivnick, Geraldine Kelly-Mancuso, Karen W. Gripp, Cristin Griffis, Louanne Hudgins, Alessandro De Luca, Michael F. Wangler, M. Daniela D'Agostino, Marica Eoli, Cynthia M. Powell, Laura A. Baker, Mayra Martinez Ojeda, Silvia Esposito, Elizabeth A. Sellars, Kory Keller, David D. Weaver, James T. Bennett, Nicole J. Ullrich, Allison L. Goetsch, Donald Basel, Bruce R. Korf, Stephanie Fox, Katelyn Hodge, Laura Dosa, Robert S. Greenwood, Mario Bengala, Andrea M. Lewis, Ruth Sheffer, Valentina Pinna, Fanny Cortés, Dusica Babovic-Vuksanovic, Aaina Kochhar, Rosemarie Smith, Concepción Hernández-Chico, Elizabeth Siqveland, Robert Listernick, Lola K. Clarkson, Punita Gupta, E. Haan, Martin B. Delatycki, Amy Theos, Noa Ruhrman Shahar, Teresa Giugliano, Carey McDougall, Mitch Cunningham, David W. Stockton, Tom Callens, Maria Cristina Digilio, Yunjia Chen, Ludwine Messiaen, Eva Trevisson, Samantha A. Schrier Vergano, Caleb Rogers, Magdalena Koczkowska, Kathleen Claes, Christine Fauth, Jan Liebelt, Pamela Trapane, Eric Johns, John M. Slopis, Chelsea Chambers, Tamara L. Haygarth, Lesley K. McGregor, Alberto Spalice, Małgorzata J.M. Nowaczyk, Mary Ella M Pierpont, Kaleb Yohay, Alicia Gomes, Vickie Zurcher, Gail E. Tomlinson, Angie W. Lichty, Stephanie E Wallace, Rachel K. Hachen, Isabelle Maystadt, S. Lane Rutledge, Yael Goldberg, Grace Tran, Ulrich A. Schatz, Allison Schreiber, Jenneke van den Ende, Michael J. Lyons, Mary Louise Freckmann, Kim Armfield Uhas, Alesha D. Hicks, Maurizio Clementi, Haley Streff, June Ortenberg, John Pappas, Nancy J. Mendelsohn, Sandra Janssens, Karin Panzer, Yolanda Martin, Elaine H. Zackai, Sandra Giustini, Linlea Armstrong, Katherine A. Bosanko, Angela Sharp, Daryl A. Scott, Jonathan Zonana, Robert J. Hopkin, Eric Legius, Dinel A. Pond, Daniela Melis, Claudia Santoro, Sarah A. Sandaradura
المصدر: Human Mutation. 41:299-315
مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, 0303 health sciences, medicine.medical_specialty, education.field_of_study, Pulmonic stenosis, 030305 genetics & heredity, Population, Spinal neurofibromas, Biology, medicine.disease, Phenotype, Gastroenterology, nervous system diseases, 03 medical and health sciences, Internal medicine, Cohort, Genetics, medicine, Missense mutation, Noonan syndrome, Neurofibromatosis, education, Genetics (clinical), 030304 developmental biology
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المؤلفون: Ping Lao, Ludwine Messiaen, Rafal Bartoszewski, Jarosław Króliczewski, Alina Mieczkowska, Eduard Serra, Michael R. Crowley, David K. Crossman, Alicia Gomes, Magdalena Koczkowska, Elisabeth Castellanos, Yunjia Chen, Meritxell C. Llach, Arkadiusz Piotrowski, Andrzej Poplawski
المصدر: Human mutationREFERENCES. 43(1)
مصطلحات موضوعية: Genetics, Untranslated region, Candidate gene, Massive parallel sequencing, Neurofibromatoses, Intron, Intracellular Signaling Peptides and Proteins, Chromosome, High-Throughput Nucleotide Sequencing, Genomics, SMARCB1 Protein, Biology, medicine.disease, Chromosomes, medicine, Humans, SMARCB1, Schwannomatosis, Genetics (clinical), Neurilemmoma, Transcription Factors
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المؤلفون: Yunjia Chen, Alicia Gomes, Juan Dong, Ludwine Messiaen
المصدر: Genetics in Medicine. 24:S206-S207
مصطلحات موضوعية: Genetics (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::d8c1916a68ed4d51b3aa4940072a56d5
https://doi.org/10.1016/j.gim.2022.01.365 -
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المؤلفون: Alicia Gomes Fernandes
مصطلحات موضوعية: Wine, Antioxidant, Chemistry, medicine.medical_treatment, medicine, Maceration (wine), Pomace, food and beverages, Food science, Coronary heart disease
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::1aeecb6fcdbd2f04788c8d73694d4e2e
https://doi.org/10.26512/2008.07.tcc.256 -
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المؤلفون: Lynne M. Bird, Justin T. Jordan, Laura Dosa, Sébastien Perreault, Punita Gupta, Surya P. Rednam, Nicole J. Ullrich, Donald Basel, Linda M. Randolph, Leah W. Burke, Andrea Shugar, Angela Sharp, Ludwine Messiaen, Carey McDougall, Alicia Gomes, Andrea M. Lewis, Maurice J. Mahoney, Rachel K. Hachen, Marie T. McDonald, Katherine A. Rauen, Colette DeFilippo, Carmelo Piscopo, Maria Cristina Digilio, Sandra Janssens, Mary Ella M Pierpont, Lois J. Starr, Eric Legius, Michael F. Wangler, G. Bradley Schaefer, Arthur S. Aylsworth, Pamela Trapane, Ashraf Syed, Laurence E. Walsh, Alesha D. Hicks, Emily Wakefield, Robert Listernick, Nancy J. Mendelsohn, Elaine H. Zackai, Fortunato Lonardo, Dinel A. Pond, Robert S. Greenwood, Alessandro De Luca, Elizabeth K. Schorry, Rianne Oostenbrink, Katharina Wimmer, Ellen Denayer, Felicity Collins, Peter Kannu, Daryl A. Scott, S. Lane Rutledge, Yolanda Martin, Shelley K. Dills, Amedeo A. Azizi, Kristi J. Jones, David T. Miller, Gary Bellus, Yunjia Chen, Tom Callens, Magdalena Koczkowska, Kathleen Claes, Rick van Minkelen, Mayra Martinez Ojeda, Ashley Cannon, Bruce R. Korf, Cristin Griffis, Maria Blazo, Mari Mori, Veronica Saletti, Elizabeth Siqveland, Concepción Hernández-Chico
المساهمون: Pediatrics, Clinical Genetics
المصدر: Genetics in Medicine, 21(4), 867-876. Lippincott Williams & Wilkins
Genetics in medicine : official journal of the American College of Medical Genetics, vol 21, iss 4
GENETICS IN MEDICINE
Genetics in Medicineمصطلحات موضوعية: 0301 basic medicine, Male, CHILDREN, 030105 genetics & heredity, GUIDELINES, neurofibroma, Correlation, Medicine and Health Sciences, Type 1 Neurofibromatosis, Neurofibroma, Child, GeneralLiterature_REFERENCE(e.g.,dictionaries,encyclopedias,glossaries), learning difficulties, Genetics (clinical), Sequence Deletion, Genetics, Pediatric, Genetics & Heredity, Neurofibromin 1, Learning Disabilities, ASSOCIATION, genotype–phenotype correlation, Plexiform, Child, Preschool, ComputingMethodologies_DOCUMENTANDTEXTPROCESSING, NERVE SHEATH TUMORS, Female, p.Met992del, Adult, congenital, hereditary, and neonatal diseases and abnormalities, Heterozygote, VONRECKLINGHAUSEN NEUROFIBROMATOSIS, Neurofibromatosis 1, Adolescent, Clinical Sciences, Mutation, Missense, Biology, genotype-phenotype correlation, Article, Genotype phenotype, Neurofibromatosis, 03 medical and health sciences, Young Adult, Rare Diseases, Clinical Research, medicine, Humans, Genetic Predisposition to Disease, Clinical phenotype, Preschool, Gene, neoplasms, Genetic Association Studies, Neurofibroma, Plexiform, MUTATIONS, OPTIC PATHWAY TUMORS, Neurosciences, Correction, Biology and Life Sciences, Infant, SOUTH EAST WALES, medicine.disease, NOONAN SYNDROME, nervous system diseases, Brain Disorders, 030104 developmental biology, NF1, Mutation, Noonan syndrome, TYPE-1 NEUROFIBROMATOSIS, Missense
وصف الملف: Print-Electronic; application/pdf
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المؤلفون: Alicia Gomes, Maria Descartes, Peter Weiser, Jariya Upadia
مصطلحات موضوعية: 0301 basic medicine, Pediatrics, medicine.medical_specialty, business.industry, Inflammatory arthritis, Arthritis, Gene mutation, medicine.disease, Infliximab, Transplantation, 03 medical and health sciences, chemistry.chemical_compound, Psoriatic arthritis, 030104 developmental biology, Tocilizumab, Skeletal disorder, chemistry, Pediatrics, Perinatology and Child Health, medicine, business, Genetics (clinical), medicine.drug
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1bdd72ab4250905ff2a7c69814f0987a
https://europepmc.org/articles/PMC6234043/