المؤلفون: Alexandra Finless, Andrea L. Rideout, Ting Xiong, Holly Carbyn, Patricia Lingley-Pottie, Lisa D. Palmer, Andrea Shugar, Donna M. McDonald-McGinn, Patrick J. McGrath, Anne S. Bassett, Cheryl Cytrynbaum, Matt Orr, Ann Swillen, Sandra Meier

المصدر: European Journal of Psychotraumatology, Vol 15, Iss 1 (2024)

مصطلحات موضوعية: 22q11DS, traumata, mental health, caregivers, trauma-informed care, SD22q11, Psychiatry, RC435-571

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2000-8066Test

الوصول الحر: https://doaj.org/article/f793a2611d8746a2a5b64438cfcfdccdTest

المؤلفون: Daniel Gaston, Samantha Hansford, Carla Oliveira, Mathew Nightingale, Hugo Pinheiro, Christine Macgillivray, Pardeep Kaurah, Andrea L Rideout, Patricia Steele, Gabriela Soares, Weei-Yuarn Huang, Scott Whitehouse, Sarah Blowers, Marissa A LeBlanc, Haiyan Jiang, Wenda Greer, Mark E Samuels, Andrew Orr, Conrad V Fernandez, Jacek Majewski, Mark Ludman, Sarah Dyack, Lynette S Penney, Christopher R McMaster, David Huntsman, Karen Bedard

المصدر: PLoS Genetics, Vol 10, Iss 10, p e1004669 (2014)

مصطلحات موضوعية: Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: http://europepmc.org/articles/PMC4207611?pdf=renderTest; https://doaj.org/toc/1553-7390Test; https://doaj.org/toc/1553-7404Test

الوصول الحر: https://doaj.org/article/218c6627cf0742139b00ee32b9763ae2Test

المؤلفون: Maximillian D.J. Fiander, Michael J. Bamshad, Dongchuan Guo, Anna C.E. Hurst, Deborah A. Nickerson, Sarah C. Novara, Alana C. Cecchi, Andrea L. Rideout, Dianna M. Milewicz, Amélie Pinard, Anthony Vandersteen, Mohamed Azouz, P. Daniel McNeely, Simon Walling, Sandhya Parkash, Stuart M. Fraser

المصدر: Neurology

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Pathology, medicine.medical_specialty, Ubiquitin-Protein Ligases, Aortic Diseases, Arterial Occlusive Diseases, Renal artery stenosis, Renal Artery Obstruction, Iliac Artery, Article, 03 medical and health sciences, 0302 clinical medicine, medicine.artery, Occlusion, medicine, Humans, Ring domain, Moyamoya disease, Age of Onset, Exome sequencing, Adenosine Triphosphatases, business.industry, Abdominal aorta, Occlusive, medicine.disease, Femoral Artery, Young age, 030104 developmental biology, Child, Preschool, Mutation, Female, Neurology (clinical), Moyamoya Disease, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f626f519ba2368257f8896d43019c69Test
https://europepmc.org/articles/PMC8055312Test/

المؤلفون: Kwanghyuk Lee, Pauline Arnaud, Guillaume Jondeau, Dianna M. Milewicz, Sarah Dyack, Julie De Backer, Rajani D. Aatre, Stephanie E. Wallace, Dongchuan Guo, Catherine Boileau, Andrea L. Rideout, Ellen S. Regalado, Ellen M. Hostetler, Nadine Hanna, Bert Callewaert, Laura Muiño-Mosquera, Suzanne M. Leal

المصدر: Journal of Medical Genetics. 56:252-260

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Variant type, business.industry, 030204 cardiovascular system & hematology, medicine.disease, Penetrance, 03 medical and health sciences, Dissection, 030104 developmental biology, 0302 clinical medicine, Aneurysm, Internal medicine, Cohort, Genetics, medicine, Cardiology, Missense mutation, Age of onset, Haploinsufficiency, business, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::ea2df80b76c6472009897942c3d77dfdTest
https://doi.org/10.1136/jmedgenet-2018-105583Test

المؤلفون: Erin, Demo, Christina, Rigelsky, Andrea L, Rideout, Madeline, Graf, Mitchel, Pariani, Ellen, Regalado, Gretchen, MacCarrick

المصدر: The Medical clinics of North America. 103(6)

مصطلحات موضوعية: Aortic Diseases, Humans, Aorta, Thoracic, Genetic Testing, Precision Medicine, Patient Care Management

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::82c531c858f2990a32038f866619bad7Test
https://pubmed.ncbi.nlm.nih.gov/31582001Test

المؤلفون: Bert Callewaert, Andrea L. Rideout, Dirk Hubmacher, Sofie Symoens, Anthony Vandersteen, John Dickinson, Stylianos Z. Karoulias, Aude Beyens, Zerina Balic

المصدر: Matrix biology : journal of the International Society for Matrix Biology. 88

مصطلحات موضوعية: 0301 basic medicine, Models, Molecular, Fibrillin-1, Polymorphism, Single Nucleotide, Collagen Type I, Cell Line, Extracellular matrix, 03 medical and health sciences, 0302 clinical medicine, ADAMTS Proteins, Dermis, Microscopy, Electron, Transmission, Catalytic Domain, medicine, Humans, Molecular Biology, Chemistry, ADAMTS, Genetic disorder, Fibrillins, Fibroblasts, Middle Aged, medicine.disease, Weill–Marchesani syndrome, Cell biology, Extracellular Matrix, Pedigree, Weill-Marchesani Syndrome, 030104 developmental biology, medicine.anatomical_structure, HEK293 Cells, 030220 oncology & carcinogenesis, Female, Fibrillin, Elastic fiber

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::39420220d9c85ec09de5199de51bc900Test
https://pubmed.ncbi.nlm.nih.gov/31726086Test

المؤلفون: Duane L Guernsey, Haiyan Jiang, Karen Bedard, Susan C Evans, Meghan Ferguson, Makoto Matsuoka, Christine Macgillivray, Mathew Nightingale, Scott Perry, Andrea L Rideout, Andrew Orr, Mark Ludman, David L Skidmore, Timothy Benstead, Mark E Samuels

المصدر: PLoS Genetics, Vol 6, Iss 8 (2010)

مصطلحات موضوعية: Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: http://europepmc.org/articles/PMC2928813?pdf=renderTest; https://doaj.org/toc/1553-7390Test; https://doaj.org/toc/1553-7404Test

الوصول الحر: https://doaj.org/article/e0ebacd6d28b4eddae62c109e45ad61cTest

المؤلفون: Lynette S. Penney, Uri Tabori, Helen S. L. Chan, Pavel N. Pichurin, Hala S. Al-Rimawi, Brandie Heald, Matthew F. Kalady, Steven Gallinger, Rina Dvir, Shlomi Cohen, Alain Sayad, Ashraf Shamvil, Harriet Druker, Ronit Elhasid, Spring Holter, Brittany Campbell, Mohsin Rashid, Melyssa Aronson, Kara Semotiuk, Revital Kariv, Musa Alharbi, Hagit N. Baris, Paul Kortan, Linda Hasadsri, Douglas L. Riegert-Johnson, Simon C. Ling, Qasim Alharbi, Doua Bakry, Andrea L. Rideout, Zane Cohen, Roula Farah, David Malkin, Carol Durno

المصدر: American Journal of Gastroenterology. 111:275-284

مصطلحات موضوعية: Male, 0301 basic medicine, Pediatrics, Pathology, Lymphoma, 0302 clinical medicine, Intestine, Small, Prospective Studies, Child, Melanoma, health care economics and organizations, Mismatch Repair Endonuclease PMS2, Adenosine Triphosphatases, Leukemia, Brain Neoplasms, Gastroenterology, Nuclear Proteins, Glioma, Kidney Neoplasms, DNA-Binding Proteins, Phenotype, Child, Preschool, 030220 oncology & carcinogenesis, MISMATCH REPAIR DEFICIENCY, Female, Colorectal Neoplasms, MutL Protein Homolog 1, Adenoma, Adult, medicine.medical_specialty, Adolescent, education, Adenocarcinoma, Wilms Tumor, Young Adult, 03 medical and health sciences, Germline mutation, Neoplastic Syndromes, Hereditary, Intestinal Neoplasms, medicine, Humans, Alleles, Germ-Line Mutation, Adaptor Proteins, Signal Transducing, Retrospective Studies, Hepatology, business.industry, Wilms' tumor, medicine.disease, DNA Repair Enzymes, 030104 developmental biology, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87aab68ccc2dc50311346ccb56632a05Test
https://doi.org/10.1038/ajg.2015.392Test

المؤلفون: Sandhya Parkash, Julie Désir, Gretchen MacCarrick, Birgitte Rode Diness, Jennifer Hague, Paul Coucke, George McGillivray, Marja W. Wessels, Giada Tortora, Takayuki Morisaki, Mieke M. van Haelst, Christopher P. Bennett, David Liang, Lut Van Laer, Ingrid M.B.H. van de Laar, Marlies Kempers, Y. Detisch, Geert Vandeweyer, Jolien W. Roos-Hesselink, Andrea L. Rideout, Isabelle Maystadt, Josephina A.N. Meester, Elisa Rahikkala, Denise van der Linde, Lotte Risom, Dorien Schepers, Bart Loeys, Elie El-Khoury, Judith M.A. Verhagen, Ingrid Scurr, Kees P.J. Braun, Hiroko Morisaki, Klaske D. Lichtenbelt, Sarju G. Mehta, Julie Richer, Gabrielle Horne, Yvonne Hilhorst-Hofstee, Mark E. Lindsay, Maaike Alaerts, Hal Dietz, Aline Verstraeten, Annette F. Baas

المساهمون: Other departments, Amsterdam Neuroscience - Complex Trait Genetics, Amsterdam Reproduction & Development (AR&D), Human genetics, Clinical Genetics, Cardiology

المصدر: Human Mutation
Human mutation, 39 (5
Human Mutation, 39, 621-634
Human Mutation, 39(5), 621-634
Human Mutation, 39, 5, pp. 621-634
Human mutation, 39(5), 621-634. Wiley-Liss Inc.
Human Mutation, 39(5), 621-634. Wiley-Liss Inc.
Schepers, D, Tortora, G, Morisaki, H, MacCarrick, G, Lindsay, M, Liang, D, Mehta, S G, Hague, J, Verhagen, J, van de Laar, I, Wessels, M, Detisch, Y, van Haelst, M, Baas, A, Lichtenbelt, K, Braun, K, van der Linde, D, Roos-Hesselink, J, McGillivray, G, Meester, J, Maystadt, I, Coucke, P, El-Khoury, E, Parkash, S, Diness, B, Risom, L, Scurr, I, Hilhorst-Hofstee, Y, Morisaki, T, Richer, J, Désir, J, Kempers, M, Rideout, A L, Horne, G, Bennett, C, Rahikkala, E, Vandeweyer, G, Alaerts, M, Verstraeten, A, Dietz, H, Van Laer, L & Loeys, B 2018, ' A mutation update on the LDS-associated genes TGFB2/3 and SMAD2/3 ', Human Mutation, vol. 39, no. 5, pp. 621-634 . https://doi.org/10.1002/humu.23407Test
Human mutation

مصطلحات موضوعية: 0301 basic medicine, Connective Tissue Disorder, Génétique clinique, Loeys–Dietz syndrome, Smad2 Protein, 030204 cardiovascular system & hematology, Biology, medicine.disease_cause, Bioinformatics, SMAD3, Mutation Updates, SMAD2, Pathogenesis, 03 medical and health sciences, Mice, Transforming Growth Factor beta2, 0302 clinical medicine, All institutes and research themes of the Radboud University Medical Center, Transforming Growth Factor beta3, TGFB3, TGFB2, Genetics, medicine, Animals, Humans, Smad3 Protein, Hypertelorism, Receptor, Genetics (clinical), Genetic Association Studies, Mutation, Loeys-Dietz Syndrome, Mutation Update, medicine.disease, Phenotype, 3. Good health, Disease Models, Animal, 030104 developmental biology, aneurysm, Human medicine, medicine.symptom, Biologie, Transforming growth factor, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], Signal Transduction

وصف الملف: 1 full-text file(s): application/pdf; application/pdf; pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87574cc188f684e6ff5b89b34ffa14c1Test
https://pubmed.ncbi.nlm.nih.gov/29392890Test

المؤلفون: Christopher R. McMaster, Makoto Matsuoka, Lysanne Patry, Cheri Deal, Jean Paquette, Sandhya Parkash, Christine Macgillivray, Jacques L. Michaud, Mark Ludman, Mathew Nightingale, Susan C. Evans, Haiyan Jiang, Duane L. Guernsey, Marissa A. LeBlanc, Duane W Superneau, David Skidmore, Mark E. Samuels, Aidan Thomas, Sylvie Langlois, Andrew C. Orr, Scott Perry, Andrea L. Rideout, Meghan Ferguson

المصدر: Nature Genetics. 43:360-364

مصطلحات موضوعية: Male, Adolescent, Micrognathism, Molecular Sequence Data, Origin Recognition Complex, Cell Cycle Proteins, Biology, medicine.disease_cause, Polymorphism, Single Nucleotide, Conserved sequence, Consanguinity, ORC6, Germline mutation, Genetics, medicine, Humans, Missense mutation, Amino Acid Sequence, Child, ORC1, Gene, Conserved Sequence, Growth Disorders, Exome sequencing, Congenital Microtia, Mutation, Base Sequence, Sequence Homology, Amino Acid, Ear, DNA, Patella, Founder Effect, Pedigree, Haplotypes, Child, Preschool, Female

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b2ec26314501776616d9aa8f59ac697Test
https://doi.org/10.1038/ng.777Test