نتائج البحث - "CLINICAL FEATURE"

المساهمون: Bursa Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Biyoloji ve Genetik Anabilim Dalı., Bursa Uludağ Üniversitesi/Tıp Fakültesi/Genel Cerrahi Anabilim Dalı., Bursa Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Onkoloji Anabilim Dalı., Bursa Uludağ Üniversitesi/Tıp Fakültesi/Radyasyon Onkolojisi Anabilim Dalı., Çeçener, Gülşah, Takanlou, Leila Sabour, Takanlou, Maryam Sabour, Egeli, Ünal, Aksoy, Seçil, Ünal, Ufuk, Tezcan, Havva, Eryılmaz, Işıl Ezgi, Gökgöz, Mustafa Şehsuvar, Tunca, Berrin, Çubukçu, Erdem, Evrensel, Türkkan, Çetintaş, Sibel, Taşdelen, İsmet, GGI-6227-2022, EAS-6830-2022, GYU-0252-2022, EWY-5692-2022, ETP-1691-2022, EOI-5652-2022, EBN-1186-2022

المصدر: Cancer Genetics. 240:23-32

مصطلحات موضوعية: Male, Oncology, Kaplan Meier method, Turkey, endocrine system diseases, Epidemiology, DNA Mutational Analysis, Gene mutation, Germline, Heteroduplex analysis, Human epidermal growth factor receptor 2 positive breast cancer, Breast cancer, 0302 clinical medicine, Pathology, Tumor suppressor gene, Disease free survival, skin and connective tissue diseases, 030220 oncology & carcinogenesis, Cohort analysis, Breast carcinoma, Human, medicine.medical_specialty, Ovarian-cancer, Major clinical study, Article, Disease-Free Survival, Cancer grading, 03 medical and health sciences, Genetic screening, Genetics, Pathogenicity, Humans, Women, Vairants, Molecular Biology, Genetic predisposition, Follow up, BRCA1, medicine.disease, BRCA2, Gene frequency, BRCA2 protein, human, Mutation, Sanger sequencing, Cancer Research, Kaplan-Meier Estimate, Associations, Turkey (republic), Turkey (bird), Germline mutation, Pathogenic mutations, Prevalence, Tumor volume, Overall survival, Triple negative breast cancer, Breast, Family history, Priority journal, BRCA1 Protein, Genetics & heredity, Tumor characteristics, Middle Aged, Mutation (genetic algorithm), symbols, Female, Variant of uncertain significance, Genetic trait, Risk, Adult, Heterozygote, BRCA1 Gene, Breast Neoplasms, Germline Mutation, Ovary cancer, Luminal B breast cancer, Breast tumor, Biology, Breast Neoplasms, Male, symbols.namesake, Luminal A breast cancer, Internal medicine, medicine, Genetic Predisposition to Disease, Mortality, Germline mutations, Popoulation, Germ-Line Mutation, BRCA1 protein, human, BRCA2 Protein, Clinical feature, Genetic association, Physical-activity, Genetic variability, Ovarian cancer, Controlled study, Follow-Up Studies

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b30ef1c892a5a2eb8f1b31fe8531dd85Test
https://doi.org/10.1016/j.cancergen.2019.10.004Test

6

Geoepidemiology of Sjögren's syndrome in Latin America

المؤلفون: Paula Restrepo-Jiménez, Nicolás Molano-González, Juan-Manuel Anaya

المصدر: Repositorio EdocUR-U. Rosario
Universidad del Rosario
instacron:Universidad del Rosario

مصطلحات موضوعية: Asia, Latin Americans, Anti-nuclear antibody, Latin American studies, Autoimmune diseases, Ethnic group, Disease, Colombia, Article, Antinuclear antibody, 03 medical and health sciences, 0302 clinical medicine, Rheumatology, Autoimmune disease, Ethnicity, medicine, Humans, South and central america, 030212 general & internal medicine, Ancestry, 030203 arthritis & rheumatology, Medical literature, business.industry, Incidence, Latin america, Rheumatoid factor, medicine.disease, Environmental factor, North america, Europe, Latin America, Sjogren's Syndrome, Clinical feature, Genetic difference, Cohort, Systematic review, Sjögren's syndrome, business, Sjoegren syndrome, Human, Demography

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b2f00ec8dad320345760e1c5cd82db1bTest
https://doi.org/10.1016/j.jbspin.2019.02.004Test

7

Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation

المصدر: Genetics in Medicine. 18:1226-1234

مصطلحات موضوعية: Male, 0301 basic medicine, congenital heart malformation, genetic association, genotype phenotype correlation, RIT1 gene, lymphatic system disease, Bioinformatics, preschool child, Genotype-phenotype distinction, genetic variability, middle aged, Genotype, Noonan syndrome, Missense mutation, genetics, gene mutation, Genetics (clinical), child, clinical article, medicine.diagnostic_test, adult, pedigree, RIT1 protein, human, female, germline mutation, genetic association study, medicine.symptom, Ras protein, Heart Defects, Congenital, phenotype, oncogenic mutations, RASopathy, Short stature, Article, 03 medical and health sciences, Germline mutation, medicine, Humans, human, gene, RASopathies, Genetic Association Studies, Germ-Line Mutation, Genetic testing, business.industry, missense mutation, Cardiomyopathy, Hypertrophic, hypertrophic cardiomyopathy, school child, medicine.disease, infant, clinical feature, 030104 developmental biology, adolescent, RAS-MAPK signaling pathway, ras Proteins, pathology, codon, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f6c81685a1a6eb9cbba8314a634d9be5Test
https://doi.org/10.1038/gim.2016.32Test

8

Pulmonary involvement in systemic sclerosis

المؤلفون: Camila Pérez-Madrid, Adriana Morales-Cárdenas, Adriana Rojas-Villarraga, Liliana Arias, Juan-Manuel Anaya, Jorge Alberto Carrillo-Bayona, Paulina Ojeda, María Paula Mahecha

المصدر: Repositorio EdocUR-U. Rosario
Universidad del Rosario
instacron:Universidad del Rosario

مصطلحات موضوعية: Aspiration pneumonia, Male, Pathology, Epidemiology, Review, Scleroderma, Non specific interstitial pneumonia, Combined pulmonary fibrosis and emphysema, 0302 clinical medicine, Immunology and Allergy, skin and connective tissue diseases, Diaphragm disease, Lung hemorrhage, Lung, Tomography, Interstitial pneumonia, Gastrointestinal tract, integumentary system, medicine.diagnostic_test, Interstitial lung disease, Hyperplasia, Pathophysiology, Bronchiolitis, Systemic sclerosis, Diagnostic imaging, Female, Lung infection, Lung cancer, Thorax radiography, Radiology, Human, Aspiration bronchiolitis, medicine.medical_specialty, Pulmonary capillary hemangiomatosis, Immunology, Histopathology, Lung emphysema, X-ray computed, Pulmonary hypertension, 03 medical and health sciences, Pulmonary veno-occlusive disease, Biopsy, medicine, Humans, In patient, Pulmonary involvement, Usual interstitial pneumonia, Lung diseases, Diffuse alveolar damage, Organizing pneumonia, X-ray computed tomography, 030203 arthritis & rheumatology, Autoimmune disease, Scleroderma, Systemic, business.industry, interstitial, Gold standard (test), systemic, medicine.disease, Biological marker, Clinical feature, 030228 respiratory system, Bronchiolocentric fibrosis, Lung disease, Systematic review, Lung fibrosis, Lung Diseases, Interstitial, Tomography, X-Ray Computed, business, Complication

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e9cdb8ef66cadd5410848b196529cfbTest
https://doi.org/10.1016/j.autrev.2016.07.025Test

9

Cerebral microbleeds in patients with mild cognitive impairment and small vessel disease: The Vascular Mild Cognitive Impairment (VMCI)-Tuscany study

المساهمون: Valenti, Raffaella, Del Bene, Alessandra, Poggesi, Anna, Ginestroni, Andrea, Salvadori, Emilia, Pracucci, Giovanni, Ciolli, Laura, Marini, Sandro, Nannucci, Serena, Pasi, Marco, Pescini, Francesca, Diciotti, Stefano, Orlandi, Giovanni, Cosottini, Mirco, Chiti, Alberto, Mascalchi, Mario, Bonuccelli, Ubaldo, Inzitari, Domenico, Pantoni, Leonardo

المصدر: Journal of the Neurological Sciences. 368:195-202

مصطلحات موضوعية: Male, medicine.medical_specialty, Neurology, Cerebral microbleeds, Clinical features, Cognition, Inter-rater agreement, Mars, Small vessel disease, Neurology (clinical), Fleiss' kappa, Neuropsychological Tests, 030204 cardiovascular system & hematology, Statistics, Nonparametric, 03 medical and health sciences, Imaging, Three-Dimensional, 0302 clinical medicine, Neuroimaging, Risk Factors, Rating scale, Internal medicine, medicine, Humans, Cognitive Dysfunction, Prospective Studies, Psychiatry, Aged, Cerebral Hemorrhage, Aged, 80 and over, Cerebral microbleed, Neuropsychology, Executive functions, Magnetic Resonance Imaging, Mar, Inter-rater reliability, Clinical feature, Italy, Cerebral Small Vessel Diseases, Cardiology, Female, Psychology, 030217 neurology & neurosurgery

وصف الملف: STAMPA

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::37233d846ea0acfe1b159227f1b9f5cdTest
https://doi.org/10.1016/j.jns.2016.07.018Test

10

STK4 (MST1) deficiency in two siblings with autoimmune cytopenias: A novel mutation

المؤلفون: Cagman Sun-Tan, Baran Erman, Köksal R. Özgül, Sevil Oskay Halacli, Ilhan Tezcan, Elif Uz, Ozden Sanal, Deniz Cagdas Ayvaz, Didem Yücel Yılmaz

المساهمون: Uludağ Üniversitesi/Fen-Edebiyat Fakültesi/Moleküler Biyoloji ve Genetik Bölümü., Uz, Elif

المصدر: Clinical Immunology. 161:316-323

مصطلحات موضوعية: Male, Cytoplasm, Stk 4 gene, Autoimmune cytopenia, DNA Mutational Analysis, Seborrheic dermatitis, Dermatitis, Gene, Dock8 dificiency, T lymphocyte, Corticosteroid, Pallor, Child, Hypoxia, Immunodeficiency, Tachypnea, Molluscum contagiosum, Intracellular Signaling Peptides and Proteins, Memory cell, CD8 antigen, Pedigree, STK4 deficiency, Child, Preschool, Medical history, Deficiency, CD4 antigen, Rituximab, Hepatomegaly, Human, Protein-serine-threonine kinases, CD45RA antigen, Immunology, Jaundice, Urinalysis, Methylprednisolone, Article, Nail infection, Combined immunodeficiencies, Case report, Onychomycosis, Genetics, Humans, Clinical evaluation, T cell deficiency, Autoimmune hemolytic anemia, Steroid, Protein serine threonine kinase, CD4+ T lymphocyte, CD19 antigen, Skin defect, Infant, Follow up, Pneumonia, Body weight, medicine.disease, Body height, Cytopenia, Mutation, Hemolytic anemia, Bacterial infection, Nucleotide sequence, Neutrophil count, Immune deficiency, medicine.disease_cause, Protein, Long-Acting Thyroid Stimulator, Verteporfin, Antimicrobial therapy, Autoimmunity, Anthropometric parameters, Autoimmune disease, Immunology and Allergy, Disease, Bronchus hyperreactivity, Priority journal, STK4 protein, human, Atopy, Steroid therapy, Anemia, Newborn period, Female, CD27 antigen, Job Syndrome, Laboratory test, Neutropenia, Sibling, Virus infection, Hyperimmune globulin, Protein Serine-Threonine Kinases, Biology, Autoimmune Diseases, Antinuclear antibody, Physical examination, Lymphopenia, Immunoglobulin, Reticulocytosis, medicine, Coombs positive hemolytic anemia, Double stranded DNA, Gene mutation, Atopic dermatitis, Family Health, B lymphocyte, Siblings, Lymphocytopenia, Immunoglobulin D, Respiratory distress, Immunoglobulin E, Thrombocytopenia, Cyclosporin A, Clinical feature, Preschool child, Erythrocyte transfusion, Hyper IgE syndrome, Hyperimmunoglobulin E syndrome

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee94198c32ae9f98a8655b1c8364421aTest
https://doi.org/10.1016/j.clim.2015.06.010Test

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