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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.23407
Human mutationمصطلحات 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
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المؤلفون: Y. Detisch, Suzanne C E H Sallevelt, D. Marcus-Soekarman, Maaike Vreeburg, M. van Geel, M.A.M. van Steensel, Alexander P.A. Stegmann, C. T. R. M. Schrander-Stumpel
المصدر: Clinical Genetics. 85:328-335
مصطلحات موضوعية: Genetics, medicine.medical_specialty, business.industry, Geneticist, Dermatology, Clinical diagnosis, Medicine, Outpatient clinic, Medical diagnosis, Abnormality, business, Genetics (clinical), X chromosome
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المؤلفون: Marinus J. Blok, Joep P.M. Geraedts, Thomy de Ravel, Demis Tserpelis, Aimee D C Paulussen, Raoul C.M. Hennekam, Eric Smeets, Constance T.R.M. Schrander-Stumpel, Maaike Vreeburg, Hubert J T Smeets, Irene Stolte-Dijkstra, Wilhelmina S. Kerstjens-Frederikse, Marie José H. Van Den Boogaard, J. J. P. Schrander, Grazia M.S. Mancini, Jean-Pierre Fryns, Annemieke M. A. Wagemans, Marja W. Wessels, Y. Detisch, Koenraad Devriendt, Arie van Haeringen, Alexander P.A. Stegmann, Crool Posma-Velter, Jasper J. van der Smagt
المساهمون: Amsterdam Neuroscience, Amsterdam Public Health, Paediatrics, Family Medicine, Kindergeneeskunde, RS: GROW - School for Oncology and Reproduction, Klinische Genetica, Clinical Genetics, Maastricht University Medical Centre (MUMC), Maastricht University [Maastricht]-Maastricht University [Maastricht], School for Oncology & Developmental Biology (GROW), Department of Clinical Genetics, Department of Paediatrics, Department of Medical Genetics, University Medical Center [Utrecht], Center for Human and Clinical Genetics, Leiden University Medical Center (LUMC), Department of Genetics, University Medical Center Groningen [Groningen] (UMCG), Erasmus University Medical Center [Rotterdam] (Erasmus MC), Human Genetics, Erasmus University Rotterdam, Department of Pediatrics, Academic Medical Center, University of Amsterdam [Amsterdam] (UvA), Center for Human Genetics, Catholic University of Leuven - Katholieke Universiteit Leuven (KU Leuven), Clinical sciences, Medical Genetics, Pediatrics
المصدر: Human mutation, 32(2), E2018-E2025. Wiley-Liss Inc.
Human Mutation, 32(2), E2018-E2025. Wiley
Human Mutation
Human Mutation, 32(2), E2018-E2025
Human Mutation, Wiley, 2010, 32 (2), ⟨10.1002/humu.21416⟩
Human Mutation, 32(2), E2018-E2025. Wiley-Liss Inc.مصطلحات موضوعية: Male, Hematologic Diseases/genetics, Biology, medicine.disease_cause, PROTEIN LYSINE METHYLTRANSFERASES, Frameshift mutation, Exon, Neoplasm Proteins/genetics, EARS, Abnormalities, Multiple/genetics, Genetics, medicine, Missense mutation, Humans, Abnormalities, Multiple, histone methyl transferase, Epigenetics, Gene, Genetics (clinical), Mutation, Kabuki syndrome, Life Sciences, MAKE-UP-SYNDROME, Face/abnormalities, medicine.disease, Molecular biology, Hematologic Diseases, GENE, Vestibular Diseases/genetics, Neoplasm Proteins, DNA-Binding Proteins, Vestibular Diseases, KS, Histone methyltransferase, Face, MLL2, GROWTH, Female, DNA-Binding Proteins/genetics, MENTAL-RETARDATION
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المؤلفون: Rita D. Brandão, J. J. T. van Harssel, Aimee D C Paulussen, Marinus J. Blok, E. B. Gomez Garcia, Y. Detisch, Maurice P. Zeegers, C. E. P. van Roozendaal
المساهمون: RS: NUTRIM - R4 - Gene-environment interaction, Genetica & Celbiologie, Populatie Genetica, Complexe Genetica
المصدر: Familial Cancer, 9(2), 193-201. Springer, Cham
Familial Cancerمصطلحات موضوعية: Male, Proband, Oncology, Cancer Research, SCORING SYSTEM, Genes, BRCA1, Bioinformatics, FAMILY-HISTORY, Brca1 2 mutation, 0302 clinical medicine, Genetics(clinical), Unclassified variants, Family history, skin and connective tissue diseases, Genetics (clinical), BRCAPRO, AMERICAN-SOCIETY, RISK, 0303 health sciences, BRCA1 Protein, Genetic Carrier Screening, UNKNOWN CLINICAL-SIGNIFICANCE, Pedigree, 3. Good health, SUSCEPTIBILITY GENES, Mutation probability, 030220 oncology & carcinogenesis, Mutation (genetic algorithm), Female, Algorithms, medicine.medical_specialty, Breast Neoplasms, Genetic Counseling, Biology, DNA-SEQUENCE VARIANTS, Article, OVARIAN-CANCER, OPTIMAL SELECTION, 03 medical and health sciences, Breast cancer, Internal medicine, medicine, Genetics, Humans, BREAST-CANCER, Genetic Predisposition to Disease, Genetic Testing, Probability model, Myriad II, Probability, 030304 developmental biology, Genetic Variation, Cancer, medicine.disease, BRCA1, BRCA2, Human genetics, Mutation
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المؤلفون: Dagmar-C. Fischer, Y. Detisch, Encarna B. Gomez-Garcia, H. Baars, Andrea Romano, Patrick J. Lindsey, Rita D. Brandão, R.x Martens, E. Jongen, Marinus J. Blok
المساهمون: RS: NUTRIM School of Nutrition and Translational Research in Metabolism, RS: GROW - School for Oncology and Reproduction, Gynaecologie en Obstetrie, Genetica & Celbiologie, Populatie Genetica
المصدر: The Open Cancer Journal, 1, 1-8. Bentham Science Publishers
مصطلحات موضوعية: Proband, Cancer Research, medicine.medical_specialty, Mutation, endocrine system diseases, Cancer, Biology, medicine.disease, medicine.disease_cause, Endocrinology, Oncology, Internal medicine, Progesterone receptor, medicine, Allele, skin and connective tissue diseases, Ovarian cancer, CHEK2, Gene
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c93cbad37651521e8224885a40c7f1af
https://doi.org/10.2174/1874079000701010001 -
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المؤلفون: Y. Vanlingen, Eveline Rondagh, Y. Detisch, Ad A.M. Masclee, Sjoerd Gulikers, Encarna B. Gomez-Garcia, Bjorn Winkens, Silvia Sanduleanu, Hans F. A. Vasen
المساهمون: RS: CAPHRI School for Public Health and Primary Care, RS: NUTRIM - R2 - Gut-liver homeostasis, RS: GROW - School for Oncology and Reproduction, Interne Geneeskunde, Klinische Genetica, FHML Methodologie & Statistiek
المصدر: Endoscopy, 45(4), 257-264. Georg Thieme Verlag
Endoscopy, 45(4), 257-264مصطلحات موضوعية: Male, COLONOSCOPIC SURVEILLANCE, Colorectal cancer, Colonoscopy, HEREDITARY, SERRATED POLYPS, Gastroenterology, Odds Ratio, Prospective Studies, Prospective cohort study, POPULATION, Aged, 80 and over, RISK, education.field_of_study, medicine.diagnostic_test, Middle Aged, CANCER, Lynch syndrome, PREVALENCE, Population Surveillance, Female, Colon, Transverse, Adenoma, Adult, medicine.medical_specialty, Adolescent, Population, Colonic Polyps, Colon, Ascending, Young Adult, Internal medicine, ADENOMAS, Confidence Intervals, medicine, Humans, education, Aged, business.industry, Case-control study, Odds ratio, medicine.disease, Colorectal Neoplasms, Hereditary Nonpolyposis, digestive system diseases, FLAT, INDIVIDUALS, Case-Control Studies, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::089388794f3e38f20bdc7a7481a32b8e
https://hdl.handle.net/1887/98123 -
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