المؤلفون: Nathalie Rohmann, Theresa Geese, Samantha Nestel, Kristina Schlicht, Corinna Geisler, Kathrin Türk, Fynn Brix, Julia Jensen-Kroll, Tobias Demetrowitsch, Corinna Bang, Andre Franke, Wolfgang Lieb, Dominik M. Schulte, Karin Schwarz, Anne-Kathrin Ruß, Arunabh Sharma, Stefan Schreiber, Astrid Dempfle, Matthias Laudes

المصدر: BMC Medicine, Vol 22, Iss 1, Pp 1-18 (2024)

مصطلحات موضوعية: Diabetes, Inflammatory bowel disease, Biomedical and lifestyle factors, Diet scores, Age-at-disease-onset, Gut microbiome composition, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1741-7015

URL الوصول: https://doaj.org/article/b4bc7d08819b401190511382d1aa1a9c

المؤلفون: Agnieszka H. Ludwig-Słomczyńska, Michał T. Seweryn, Piotr Radkowski, Przemysław Kapusta, Julita Machlowska, Stepanka Pruhova, Daniela Gasperikova, Christine Bellanne-Chantelot, Andrew Hattersley, Balamurugan Kandasamy, Lisa Letourneau-Freiberg, Louis Philipson, Alessandro Doria, Paweł P. Wołkow, Maciej T. Małecki, Tomasz Klupa

المصدر: Molecular Medicine, Vol 28, Iss 1, Pp 1-13 (2022)

مصطلحات موضوعية: Age at disease onset, Diabetes, GWAS, HNF1A-MODY, Therapeutics. Pharmacology, RM1-950, Biochemistry, QD415-436

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1076-1551; https://doaj.org/toc/1528-3658

URL الوصول: https://doaj.org/article/1277379c6c1841b58fa7e39cbf7164b8

المؤلفون: S. A. Zubasheva, I. R. Gazizova, A. V. Seleznev, Yu. I. Razhko, A. Yu. Brezhnev, A. V. Kuroyedov

المصدر: Российский офтальмологический журнал, Vol 14, Iss 3, Pp 120-123 (2021)

مصطلحات موضوعية: gender, glaucoma, intraocular pressure, gender differences, primary open-angle glaucoma, age of disease onset, Ophthalmology, RE1-994

وصف الملف: electronic resource

Relation: https://roj.igb.ru/jour/article/view/731; https://doaj.org/toc/2072-0076; https://doaj.org/toc/2587-5760

URL الوصول: https://doaj.org/article/0da19acdde994c049946a2eee111c49f

المؤلفون: V. Golimbet, T. Lezheiko, M. Gabaeva, G. Korovaitseva, N. Kolesina, V. Plakunova

المصدر: European Psychiatry, Vol 65, Pp S203-S204 (2022)

مصطلحات موضوعية: gene-environmental interaction, schizophrénia, hypoxia, age at disease onset, Psychiatry, RC435-571

وصف الملف: electronic resource

Relation: https://www.cambridge.org/core/product/identifier/S092493382200534X/type/journal_article; https://doaj.org/toc/0924-9338; https://doaj.org/toc/1778-3585

URL الوصول: https://doaj.org/article/18f7673f571a43d99aa410157ab6fbc8

المؤلفون: Alaa Ghali, Carole Lacout, Jacques-Olivier Fortrat, Karine Depres, Maria Ghali, Christian Lavigne

المصدر: Diagnostics; Volume 12; Issue 10; Pages: 2540

مصطلحات موضوعية: myalgic encephalomyelitis/chronic fatigue syndrome, prognosis, diagnostic delay, age at disease onset

وصف الملف: application/pdf

Relation: Pathology and Molecular Diagnostics; https://dx.doi.org/10.3390/diagnostics12102540

الاتاحة: https://doi.org/10.3390/diagnostics12102540

المؤلفون: Spiegler, Stefanie, Najm, Juliane, Liu, Jian, Gkalympoudis, Stephanie, Schröder, Winnie, Borck, Guntram, Brockmann, Knut, Elbracht, Miriam, Fauth, Christine, Ferbert, Andreas, Freudenberg, Leonie, Grasshoff, Ute, Hellenbroich, Yorck, Henn, Wolfram, Hoffjan, Sabine, Hüning, Irina, Korenke, G Christoph, Kroisel, Peter M, Kunstmann, Erdmute, Mair, Martina, Munk-Schulenburg, Susanne, Nikoubashman, Omid, Pauli, Silke, Rudnik-Schöneborn, Sabine, Sudholt, Irene, Sure, Ulrich, Tinschert, Sigrid, Wiednig, Michaela, Zoll, Barbara, Ginsberg, Mark H, Felbor, Ute

المصدر: Molecular Genetics & Genomic Medicine. 2(2)

مصطلحات موضوعية: Stroke, Genetic Testing, Neurosciences, Rare Diseases, Brain Disorders, Clinical Research, Genetics, 2.1 Biological and endogenous factors, Aetiology, Age at disease onset, CCM1, CCM2, CCM3, cerebral cavernous malformation, HEG1, mutation detection rate, predictive testing, Medicinal and Biomolecular Chemistry, Clinical Sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/7rx4b2j9
https://escholarship.org/content/qt7rx4b2j9/qt7rx4b2j9.pdf

المؤلفون: Ballester-Lopez, Alfonsina, Linares-Pardo, Ian, Koehorst, Emma, Núñez-Manchón, Judit, Pintos-Morell, Guillem, Coll-Cantí, Jaume, Almendrote, Míriam, Lucente, Giuseppe, Arbex, Andrea, Magaña, Jonathan J., Murillo-Melo, Nadia M., Lucia, Alejandro, Monckton, Darren G., Cumming, Sarah A., Ramos-Fransi, Alba, Martínez-Piñeiro, Alicia, Nogales, Gisela, Universitat Autònoma de Barcelona

مصطلحات موضوعية: CTG expansion size, Myotonic dystrophy type 1, Long PCR, Small pool-PCR, Age of disease onset

وصف الملف: application/pdf

Relation: Ministerio de Economía y Competitividad PI15/01756; Instituto de Salud Carlos III P18/00713; Agència de Gestió d'Ajuts Universitaris i de Recerca SGR1520; European Commission. Horizon 2020 713673; Ministerio de Economía y Competitividad CP14/00032; Agència de Gestió d'Ajuts Universitaris i de Recerca SGR 1520; Ministerio de Economía y Competitividad CD14/00032; Ministerio de Economía y Competitividad CM16/00016; Genes; Vol. 11 (july 2020); https://ddd.uab.cat/record/252750; urn:10.3390/genes11070757; urn:oai:ddd.uab.cat:252750; urn:pmcid:PMC7397178; urn:pmc-uid:7397178; urn:pmid:32645888; urn:oai:pubmedcentral.nih.gov:7397178; urn:oai:egreta.uab.cat:publications/3dcf8490-c2b6-4c00-832a-579ca32bbe88

الاتاحة: https://ddd.uab.cat/record/252750

المؤلفون: Alfonsina Ballester-Lopez, Ian Linares-Pardo, Emma Koehorst, Judit Núñez-Manchón, Guillem Pintos-Morell, Jaume Coll-Cantí, Miriam Almendrote, Giuseppe Lucente, Andrea Arbex, Jonathan J. Magaña, Nadia M. Murillo-Melo, Alejandro Lucia, Darren G. Monckton, Sarah A. Cumming, Alba Ramos-Fransi, Alicia Martínez-Piñeiro, Gisela Nogales-Gadea

المصدر: Genes; Volume 11; Issue 7; Pages: 757

مصطلحات موضوعية: CTG expansion size, myotonic dystrophy type 1, long PCR, small pool-PCR, age of disease onset

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes11070757

الاتاحة: https://doi.org/10.3390/genes11070757

المؤلفون: Conceição, Isabel, Damy, Thibaud, Romero, Manuel, Galán, Lucía, Attarian, Shahram, Luigetti, Marco, Sadeh, Menachem, Sarafov, Stayko, Tournev, Ivailo, Ueda, Mitsuharu

مصطلحات موضوعية: ATTR, amyloidosis, carrier, diagnosis, follow up, hereditary, minimum criteria for diagnosis, predicted age of disease onset, transthyretin, Age of Onset, Amyloid Neuropathies, Familial, Early Diagnosis, Genetic Testing, Humans, Medical History Taking, Mutation, Practice Guidelines as Topic, Prealbumin

Relation: http://hdl.handle.net/10668/13609

الاتاحة: http://hdl.handle.net/10668/13609
https://doi.org/10.1080/13506129.2018.1556156
https://www.tandfonline.com/doi/pdf/10.1080/13506129.2018.1556156?needAccess=true

المؤلفون: Laura Susok, Pia Moinzadeh, G. Zeidler, T. Schmeiser, Christiane Pfeiffer, Aaron Juche, Jan Ehrchen, Marc Schmalzing, Ilona Jandova, Elise Siegert, Thomas Krieg, Ina Kötter, Jörg Henes, Margitta Worm, Norbert Blank, C. Sunderkoetter, Jörg H W Distler, Nicolas Hunzelmann, Alexander Kreuter, Claudia Günther, Ulf Mueller-Ladner, Kathrin Kuhr, Gabriela Riemekasten

المصدر: Rheumatology (Oxford, England)

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, systemic sclerosis, Hypertension, Pulmonary, Kaplan-Meier Estimate, Disease, Systemic scleroderma, Scleroderma, Fingers, Rheumatology, Adrenal Cortex Hormones, Germany, Internal medicine, Skin Ulcer, medicine, Humans, scleroderma, Pharmacology (medical), age at disease onset, Age of Onset, AcademicSubjects/MED00360, Scleroderma, Systemic, business.industry, Significant difference, Disease progression, Clinical Science, Middle Aged, medicine.disease, Multisystem disease, Phenotype, Cohort, older age, Disease Progression, Organ involvement, Female, Symptom Assessment, business, German Network for Systemic Scleroderma, SSc, Immunosuppressive Agents

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::50ece593339c945210362a96ae5ae569
https://doi.org/10.1093/rheumatology/keaa127

المؤلفون: Gisela Nogales-Gadea, Ian Linares-Pardo, Emma Koehorst, Alba Ramos-Fransi, Jaume Coll-Cantí, Guillem Pintos-Morell, Jonathan J. Magaña, Andrea Arbex, Sarah A. Cumming, Alejandro Lucia, Alfonsina Ballester-Lopez, Darren G. Monckton, Alicia Martínez-Piñeiro, Miriam Almendrote, Giuseppe Lucente, Nadia M Murillo-Melo, Judit Núñez-Manchón

المصدر: Genes
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instname
ABACUS. Repositorio de Producción Científica
Universidad Europea (UEM)
Genes, Vol 11, Iss 757, p 757 (2020)

مصطلحات موضوعية: 0301 basic medicine, Bioquímica, musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, age of disease onset, Disease onset, lcsh:QH426-470, Long pcr, Heat pulse, CTG expansion size, small pool-PCR, Biology, Genética humana, Myotonic dystrophy, Polymerase Chain Reaction, Myotonin-Protein Kinase, law.invention, long PCR, 03 medical and health sciences, 0302 clinical medicine, law, Genetics, medicine, Humans, Myotonic Dystrophy, Clinical severity, Genetic Testing, Allele, Age of Onset, 3' Untranslated Regions, myotonic dystrophy type 1, Genetics (clinical), Polymerase chain reaction, Brief Report, Reference Standards, medicine.disease, 3. Good health, lcsh:Genetics, 030104 developmental biology, Sample size determination, Trinucleotide Repeat Expansion, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bce5ec8b1b6e85823aa165e4a9c33853
https://pubmed.ncbi.nlm.nih.gov/32645888

المؤلفون: Dohmen, Jonas, Sommer, Nils, van Beekum, Katrin, Nattermann, Jacob, Engel, Christoph, Kalff, Jörg C, Hüneburg, Robert, Vilz, Tim O

المصدر: Chirurgie (Heidelb) ; ISSN:2731-698X ; Volume:95 ; Issue:9

مصطلحات موضوعية: Age at disease onset, Cumulative risk, Gender, Genetics, Sex

Relation: https://doi.org/10.1007/s00104-024-02159-x; https://pubmed.ncbi.nlm.nih.gov/39145869

الاتاحة: https://doi.org/10.1007/s00104-024-02159-x
https://pubmed.ncbi.nlm.nih.gov/39145869

المؤلفون: Stayko Sarafov, Mitsuharu Ueda, Marco Luigetti, Isabel Conceição, Lucía Galán, Ivailo Tournev, Menachem Sadeh, Shahram Attarian, Thibaud Damy, Manuel Romero

مصطلحات موضوعية: Oncology, medicine.medical_specialty, diagnosis, Genetic counseling, Disease, ATTR, 030204 cardiovascular system & hematology, Gene mutation, transthyretin, 03 medical and health sciences, 0302 clinical medicine, carrier, predicted age of disease onset, amyloidosis, follow up, hereditary, minimum criteria for diagnosis, Internal Medicine, Internal medicine, Medicine, Humans, Prealbumin, Genetic Testing, Age of Onset, Medical History Taking, Genetic testing, Amyloid Neuropathies, Familial, biology, medicine.diagnostic_test, business.industry, Amyloidosis, nutritional and metabolic diseases, medicine.disease, Transthyretin, Settore MED/26 - NEUROLOGIA, Early Diagnosis, Mutation (genetic algorithm), Mutation, Practice Guidelines as Topic, biology.protein, Age of onset, business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a6f08134acf694211496dc9148c0c197
https://www.tandfonline.com/doi/pdf/10.1080/13506129.2018.1556156?needAccess=true

المؤلفون: Atsuo Miyachi, Hidetoshi Kakihara, Hiromi Kamura, Katsutoshi Takada, Keiki Arakawa, Manabu Asai, Masaharu Noda, Masahiko Yamamoto, Munehiko Morishita, Satofumi Sado, Tatsuya Akaza, Yasutaka Ina, Yoshihiro Senda, Yoshio Torii

المصدر: The Japanese journal of thoracic diseases. 1988, 26(9):983

المؤلفون: Rosa Maria Corbo, Daniela Scarabino, Giuseppe Gambina, Elisabetta Broggio, Franca Pelliccia

المصدر: Experimental gerontology 88 (2017): 19–24. doi:10.1016/j.exger.2016.12.017
info:cnr-pdr/source/autori:D. Scarabino a, E. Broggiob, G. Gambina b, F. Pelliccia c, R.M. Corbo c/titolo:Common variants of human TERT and TERC genes and susceptibility to sporadic Alzheimer's disease./doi:10.1016%2Fj.exger.2016.12.017/rivista:Experimental gerontology/anno:2017/pagina_da:19/pagina_a:24/intervallo_pagine:19–24/volume:88

مصطلحات موضوعية: Male, 0301 basic medicine, Aging, Linkage disequilibrium, Telomerase, Longevity, Single-nucleotide polymorphism, Biology, Polymorphism, Single Nucleotide, Biochemistry, 03 medical and health sciences, Telomerase RNA component, Endocrinology, Alzheimer Disease, Genotype, Genetics, Humans, Genetic Predisposition to Disease, Telomerase reverse transcriptase, Age of Onset, Cognitive decline, Molecular Biology, Telomere Shortening, Aged, Aged, 80 and over, TERC genotypes TERT genotypes Alzheimer's disease susceptibility Age at disease onset, Cell Biology, Telomere, Logistic Models, 030104 developmental biology, Italy, Linear Models, RNA, Female, Age at disease onset, Alzheimer's disease susceptibility, TERC genotypes, TERT genotypes

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::95bd1ea87715388dbadbf9b24f9a0393

المؤلفون: Polona Lavtar, Miljenko Kapović, Olivio Perković, Juraj Sepčić, Nada Starčević Čizmarević, Luca Lovrečić, Borut Peterlin, Saša Šega Jazbec, Smiljana Ristić, Iva Gašparović

المصدر: Journal of Neuroimmunology. 286:13-15

مصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, Multiple Sclerosis, Optic Neuritis, Genotype, Immunology, multiple sclerosis, optic neuritis, MMP-2, MMP-9, susceptibility, age of disease onset, Polymorphism, Single Nucleotide, Rats, Sprague-Dawley, Disability Evaluation, Young Adult, Cerebrospinal fluid, Gene Frequency, Animals, Humans, Immunology and Allergy, Medicine, Optic neuritis, Age of Onset, Young adult, Allele frequency, Genetic Association Studies, Analysis of Variance, Neuromyelitis optica, business.industry, Multiple sclerosis, medicine.disease, Matrix Metalloproteinase 9, Neurology, Matrix Metalloproteinase 2, Neurology (clinical), Age of onset, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e2c12f5427289d0f821ffb0f780236f2
https://doi.org/10.1016/j.jneuroim.2015.06.014

المؤلفون: Huscher, Dörte

مصطلحات موضوعية: rheumatoid arthritis, remission criteria, costs, age at disease onset, 600 Technik, Medizin, angewandte Wissenschaften::610 Medizin und Gesundheit

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::25ea611c17f79a8323629b7e459ef5d2

المؤلفون: Jadranka Vraneković, Alena Buretić-Tomljanović, Miljenko Kapović, Smiljana Ristić, Gordana Rubeša, Draško Tomljanović, Vesna Šendula-Jengić, Suzana Jonovska

المصدر: Molecular Biology Reports
Volume 3

مصطلحات موضوعية: Male, Polymerase Chain Reaction, 0302 clinical medicine, BIOMEDICINE AND HEALTHCARE. Basic Medical Sciences. Human Genetics, Genomics and Proteomics, Genotype, Age of Onset, Hemochromatosis gene mutations, chemistry.chemical_classification, Genetics, 0303 health sciences, education.field_of_study, Transferrin, General Medicine, Middle Aged, 3. Good health, Regression Analysis, Female, BIOMEDICINA I ZDRAVSTVO. Temeljne medicinske znanosti. Genetika, genomika i proteomika čovjeka, Polymorphism, Restriction Fragment Length, Adult, medicine.medical_specialty, Schizoaffective disorder, Croatia, Population, Transferrin gene variant, Statistics, Nonparametric, 03 medical and health sciences, Internal medicine, Age at first hospital admission, medicine, Humans, Genetic Predisposition to Disease, Allele, education, Hemochromatosis Protein, Molecular Biology, Genotyping, Genetic Association Studies, 030304 developmental biology, Polymorphism, Genetic, business.industry, Histocompatibility Antigens Class I, Membrane Proteins, medicine.disease, Genotype frequency, chemistry, Psychotic Disorders, Schizophrenia, schizophrenia, schizoaffective disorder, hemochromatosis gene mutations, transferrin gene variant, age at disease onset, Age of onset, business, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5248dfad9987a6116883e53a90604033
https://urn.nsk.hr/urn:nbn:hr:184:058200

المؤلفون: Krüger, Stefan, Engel, Christoph, Bier, Andrea, Silber, Ann-Sophie, Görgens, Heike, Mangold, Elisabeth, Pagenstecher, Constanze, Holinski-Feder, Elke, von Knebel Döberitz, Magnus, Royer-Pokora, Brigitte, Dechant, Stefan, Pox, Christian P., Rahner, Nils, Müller, Annegret, Schackert, Hans Konrad

المصدر: Cancer letters

مصطلحات موضوعية: ddc:610, Age of disease onset (AO), BETHESDA GUIDELINES, cancer (HNPCC), FAMILIES, HEREDITARY, hereditary nonpolyposis colorectal, hereditary nonpolyposis colorectal cancer (HNPCC), MICROSATELLITE INSTABILITY, Mismatch repair (MMR) system, MISMATCH REPAIR GENES, NONPOLYPOSIS COLORECTAL-CANCER, OF-ONSET, p53 Arg72Pro, PROSTATE-CANCER, RISK, RNASEL Arg462Gln

وصف الملف: 55–64

Relation: urn:issn:0304-3835

الاتاحة: https://bibliographie.ub.rub.de/entry/f94f272c-2fc6-4e93-ad45-aa779971ef79

المؤلفون: Modrušan, Irina

المساهمون: Nadalin, Sergej

مصطلحات موضوعية: BIOMEDICINA I ZDRAVSTVO. Kliničke medicinske znanosti, BIOMEDICINE AND HEALTHCARE. Clinical Medical Sciences, metabolički sindrom, glukoza u plazmi, lipidi u plazmi, indeks tjelesne mase, dob nastupa bolesti, shizofrenija, shizoafektivni poremećaj, age of disease onset, body mass index, metabolic syndrome, plasma glucose, plasma lipids, schizoaffective disorder, schizophrenia

وصف الملف: application/pdf

Relation: https://www.unirepository.svkri.uniri.hr/islandora/object/fzsri:2702; https://urn.nsk.hr/urn:nbn:hr:184:012400; https://www.unirepository.svkri.uniri.hr/islandora/object/fzsri:2702/datastream/PDF

الاتاحة: https://www.unirepository.svkri.uniri.hr/islandora/object/fzsri:2702
https://urn.nsk.hr/urn:nbn:hr:184:012400
https://www.unirepository.svkri.uniri.hr/islandora/object/fzsri:2702/datastream/PDF