المؤلفون: M. Estela Rubio-Gozalbo, Patrick Verloo, Sabine Scholl-Bürgi, U. Meyer, Ina Knerr, David Cassiman, Aurélie Empain, Dorothea Möslinger, Mariela M. De Los Santos De Pelegrin, Britt Derks, Can Ficicioglu, Matthias Gautschi, Natalia Juliá Palacios, Didem Demirbas, David J. Timson, Eileen P. Treacy, Annet M. Bosch, M. Luz Couce, Philippe Labrune, Gerard T. Berry, Isabel Rivera, Anastasia Skouma, Anibh M. Das, Saskia B. Wortmann

المساهمون: Kindergeneeskunde, MUMC+: MA Medische Staf Kindergeneeskunde (9), RS: GROW - R4 - Reproductive and Perinatal Medicine, Paediatric Metabolic Diseases, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism

المصدر: GENETICS IN MEDICINE
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Genetics in Medicine
Genetics in Medicine, 23(1), 202-210. Nature Publishing Group
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Rubio-Gozalbo, M Estela; Derks, Britt; Das, Anibh Martin; Meyer, Uta; Möslinger, Dorothea; Couce, M Luz; Empain, Aurélie; Ficicioglu, Can; Juliá Palacios, Natalia; De Los Santos De Pelegrin, Mariela M; Rivera, Isabel A; Scholl-Bürgi, Sabine; Bosch, Annet M; Cassiman, David; Demirbas, Didem; Gautschi, Matthias; Knerr, Ina; Labrune, Philippe; Skouma, Anastasia; Verloo, Patrick; ... (2021). Galactokinase deficiency: lessons from the GalNet registry. Genetics in medicine, 23(1), pp. 202-210. Springer Nature 10.1038/s41436-020-00942-9 <http://dx.doi.org/10.1038/s41436-020-00942-9>
Genetics in medicine, 23(1), 202-210. Lippincott Williams and Wilkins

مصطلحات موضوعية: cataract, galactosemias registry, Galactosemias, Pediatrics, medicine.medical_specialty, galactokinase 1 deficiency, Population, Encephalopathy, GALK1 gene variants, VARIANT, 610 Medicine & health, Article, Galactokinase, ERYTHROCYTES, Medicine and Health Sciences, Medicine, Humans, Genetics(clinical), Registries, education, MUTATION, Genetics (clinical), education.field_of_study, Newborn screening, business.industry, Neonatal hypoglycemia, Homozygote, Infant, Newborn, neonatal complications, Childhood cataract, medicine.disease, Galactokinase deficiency, Bleeding diathesis, GALK1gene variants, Elevated transaminases, business, GALACTOSEMIA

وصف الملف: application/pdf; Print-Electronic

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c37dd47a5aaff6b00735d1f908cb3b8e
https://doi.org/10.1038/s41436-020-00942-9

المؤلفون: Siyu Zhou, Shu Wen, Yongcheng Sheng, Meina Yang, Xiaoyang Shen, Yan Chen, Deying Kang, Liangzhi Xu

المصدر: Frontiers in Endocrinology, Vol 12 (2021)
Frontiers in Endocrinology

مصطلحات موضوعية: Oncology, medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, Population, MEDLINE, Cochrane Library, Polymorphism, Single Nucleotide, gene variants, Diseases of the endocrine glands. Clinical endocrinology, Endocrinology, Risk Factors, Internal medicine, Genetic model, Humans, Medicine, Genetic Predisposition to Disease, education, education.field_of_study, business.industry, Odds ratio, Publication bias, RC648-665, Polycystic ovary, meta-analysis, Observational Studies as Topic, Receptors, Estrogen, polycystic ovary syndrome, Meta-analysis, Female, Systematic Review, business, polymorphisms, estrogen receptor

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::511505dfe2293bc968d6845046a2ddd9
https://www.frontiersin.org/articles/10.3389/fendo.2021.726184/full

المؤلفون: Dario Bruzzese, Felice Amato, Marika Comegna, Mauro Mormile, Gustavo Cernera, Federica Zarrilli, Monica Gelzo, Giuseppe Castaldo, Marcella Savoia, Pierpaolo Di Micco

المساهمون: Cernera, G., Comegna, M., Gelzo, M., Savoia, M., Bruzzese, D., Mormile, M., Zarrilli, F., Amato, F., Di Micco, P., Castaldo, G.

المصدر: Medicina
Volume 57
Issue 7
Medicina, Vol 57, Iss 723, p 723 (2021)

مصطلحات موضوعية: Genetic Medicine, Gene variant, Medicine (General), genetic structures, Population, 030204 cardiovascular system & hematology, Bioinformatics, genetic medicine, gene variants, Article, Brain Ischemia, 03 medical and health sciences, 0302 clinical medicine, Gene environmental interaction, R5-920, Risk Factors, gene environmental interactions, ischemic stroke, Humans, Medicine, In patient, Genetic Predisposition to Disease, cardiovascular diseases, education, Child, Gene, Allele frequency, Methylenetetrahydrofolate Reductase (NADPH2), education.field_of_study, Polymorphism, Genetic, Factor XIII, biology, business.industry, Risk Factor, General Medicine, inherited thrombophilia, Molecular analysis, Stroke, Ischemic Attack, Transient, Methylenetetrahydrofolate reductase, Ischemic stroke, biology.protein, business, 030217 neurology & neurosurgery, Human

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::952ec823ffd89780c4902e0ec34dcc4d

المؤلفون: Katharina Herzog, Tiinamaija Tuomi, Rebecka Hjort, Josefin E. Löfvenborg, Lars Alfredsson, Emma Ahlqvist, Leif Groop, Sofia Carlsson

المساهمون: Centre of Excellence in Complex Disease Genetics, HUS Abdominal Center, Institute for Molecular Medicine Finland, Leif Groop Research Group, Tiinamaija Tuomi Research Group, University Management, CAMM - Research Program for Clinical and Molecular Metabolism, Research Programs Unit, Department of Medicine, University of Helsinki, Endokrinologian yksikkö

المصدر: Diabetes research and clinical practice. 174

مصطلحات موضوعية: Male, medicine.medical_specialty, ALCOHOL-CONSUMPTION, Endocrinology, Diabetes and Metabolism, Population, 030209 endocrinology & metabolism, Type 2 diabetes, LADA, 03 medical and health sciences, Autoimmune diabetes, 0302 clinical medicine, Endocrinology, Risk Factors, Diabetes mellitus, Internal medicine, Internal Medicine, Genetic predisposition, medicine, Humans, Genetic Predisposition to Disease, 030212 general & internal medicine, Family history, VALIDITY, education, Exercise, Latent Autoimmune Diabetes in Adults, Life Style, Sweden, education.field_of_study, business.industry, Case-control study, General Medicine, Odds ratio, ADULTS, ASSOCIATION, Middle Aged, medicine.disease, Lifestyle, Confidence interval, 3. Good health, Diabetes Mellitus, Type 2, 3121 General medicine, internal medicine and other clinical medicine, Case-Control Studies, GENE VARIANTS, Female, SMOKING, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1952fa135d9f2d6b1028e4a7d0e51e96
https://pubmed.ncbi.nlm.nih.gov/33744376

المؤلفون: Sonja Pavlovic, Kristel Klaassen, Vladimir Gasic, Nikola Kotur, Branka Zukic, Maja Stojiljkovic, Biljana Stankovic

المصدر: Infection, Genetics and Evolution

مصطلحات موضوعية: 0301 basic medicine, Population genomics, 0302 clinical medicine, Gene Frequency, Trypsin, 030212 general & internal medicine, Furin, Disease Resistance, Genetics, 0303 health sciences, education.field_of_study, Membrane Glycoproteins, Allele frequencies, 3. Good health, Infectious Diseases, Host-Pathogen Interactions, Spike Glycoprotein, Coronavirus, Angiotensin-Converting Enzyme 2, Coronavirus Infections, Protein Binding, Microbiology (medical), Susceptibility and resistance, In silico, 030106 microbiology, Population, Pneumonia, Viral, Biology, Peptidyl-Dipeptidase A, Gene variants, Microbiology, Mannose-Binding Lectin, Article, 03 medical and health sciences, Betacoronavirus, Genetic variation, Humans, Genetic Predisposition to Disease, Genetic variability, Allele, 1000 Genomes Project, education, Eye Proteins, Allele frequency, Gene, Molecular Biology, Pandemics, Ecology, Evolution, Behavior and Systematics, Alleles, 030304 developmental biology, Genome, Human, SARS-CoV-2, COVID-19, Genetic Variation, Plasminogen, Immunity, Innate, Genetic divergence, 030104 developmental biology, Functional prediction, biology.protein, Host genomics, Metagenomics

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c058a6239e3c917cda34827f0265a7fb

المؤلفون: Emma Ahlqvist, Josefin E. Löfvenborg, Valdemar Grill, Tiinamaija Tuomi, Lars Alfredsson, Tomas Andersson, Leif Groop, Elin Pettersen Sørgjerd, Rebecka Hjort, Bjørn Olav Åsvold, Sofia Carlsson

المساهمون: Centre of Excellence in Complex Disease Genetics, Institute for Molecular Medicine Finland, University Management, University of Helsinki, HUS Abdominal Center, Diabetes and Obesity Research Program, Research Programs Unit, Department of Medicine, Endokrinologian yksikkö

المصدر: J Clin Endocrinol Metab

مصطلحات موضوعية: Male, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, CHILDREN, Type 2 diabetes, Overweight, Biochemistry, Gastroenterology, 0302 clinical medicine, Endocrinology, DQ, HLA Antigens, Risk Factors, HETEROGENEITY, 030212 general & internal medicine, POPULATION, 2. Zero hunger, education.field_of_study, Norway, Incidence, ASSOCIATION, Middle Aged, 3. Good health, OBESITY, Female, GENE VARIANTS, medicine.symptom, Transcription Factor 7-Like 2 Protein, Adult, medicine.medical_specialty, Genotype, Population, Alpha-Ketoglutarate-Dependent Dioxygenase FTO, 030209 endocrinology & metabolism, Polymorphism, Single Nucleotide, MECHANISMS, 03 medical and health sciences, Internal medicine, Diabetes mellitus, medicine, Humans, Genetic Predisposition to Disease, education, Latent Autoimmune Diabetes in Adults, Genetic Association Studies, Clinical Research Articles, Aged, Sweden, business.industry, Biochemistry (medical), Case-control study, nutritional and metabolic diseases, medicine.disease, Obesity, BODY-MASS INDEX, Diabetes Mellitus, Type 2, Case-Control Studies, 3121 General medicine, internal medicine and other clinical medicine, AUTOANTIBODIES, business, Body mass index, TCF7L2

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1fe69d3f1e368906abc502bf0004ccb4
http://hdl.handle.net/10138/312968

المؤلفون: Xiaoli Liu, Jianli Shi, Peilin Xiao

المصدر: Bioscience Reports

مصطلحات موضوعية: 0301 basic medicine, Oncology, Leptin, medicine.medical_specialty, Population, Biophysics, Coronary Artery Disease, Gene variants, Leptin (LEP), Biochemistry, Coronary artery disease, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, medicine, Humans, Genetic Predisposition to Disease, education, Molecular Biology, Research Articles, education.field_of_study, Leptin receptor, Polymorphism, Genetic, business.industry, Genetic variants, Cell Biology, Odds ratio, medicine.disease, Confidence interval, Coronary artery disease (CAD), Meta-analysis, 030104 developmental biology, 030220 oncology & carcinogenesis, Receptors, Leptin, business, Leptin receptor (LEPR), Research Article

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b78c7075653f90dbad588e3ddf6322d
http://europepmc.org/articles/PMC6558721

المؤلفون: Szilvia Fiatal, János Sándor, Róza Ádány, Károly Nagy

المصدر: Obesity Facts, Vol 10, Iss 5, Pp 444-457 (2017)

مصطلحات موضوعية: 0301 basic medicine, Male, Health (social science), Roma, Ethnic group, Penetrance, 0302 clinical medicine, Gene Frequency, Ethnicity, 030212 general & internal medicine, lcsh:RC620-627, Body mass index, Genetics, education.field_of_study, Middle Aged, Genetic risk score, humanities, lcsh:Nutritional diseases. Deficiency diseases, Original Article, Female, FTO, lcsh:Nutrition. Foods and food supply, Adult, Genotype, Population, Alpha-Ketoglutarate-Dependent Dioxygenase FTO, lcsh:TX341-641, Single-nucleotide polymorphism, Gene variants, Polymorphism, Single Nucleotide, 03 medical and health sciences, Young Adult, Gypsy, Physiology (medical), medicine, Genetic predisposition, Humans, Genetic Predisposition to Disease, Obesity, Allele, education, Alleles, Genetic Association Studies, Aged, Hungary, business.industry, medicine.disease, 030104 developmental biology, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac5fcf2525acf26a48b80a2e589eed56
https://europepmc.org/articles/PMC5741168/

المؤلفون: Laura Papi, Bryony A. Thompson, Margherita Berardi, Alexandra Martins, Omar Soukarieh, Rossella Tricarico, Jukka Kantelinen, Maurizio Genuardi, Daniela Turchetti, Cristina Mareni, Maria De Angioletti, Greta Gorelli, Francesca Crucianelli, Mariann Kasela, Aurélie Drouet, Amanda B. Spurdle, Lucia Staderini, Pascaline Gaildrat, Valentina Ingrosso, Minna Nyström

المساهمون: Università degli Studi di Firenze = University of Florence [Firenze] (UNIFI), Fox Chase Cancer Center, University of Helsinki, Huntsman Cancer Institute [Salt Lake City], University of Utah, Melbourne School of Population and Global Health [Melbourne], University of Melbourne, Génomique et Médecine Personnalisée du Cancer et des Maladies Neuropsychiatriques (GPMCND), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Fondazione IRCCS Policlinico San Matteo [Pavia], Università di Pavia, Istituto Toscano Tumori (CRL-ITT), Génétique du cancer et des maladies neuropsychiatriques (GMFC), University of Bologna, Queensland Institute of Medical Research, QIMR Berghofer Medical Research Institute, Fondazione 'Policlinico Universitario A. Gemelli' [Rome], Tricarico, Rossella, Kasela, Mariann, Mareni, Cristina, Thompson, Bryony A., Drouet, Aurélie, Staderini, Lucia, Gorelli, Greta, Crucianelli, Francesca, Ingrosso, Valentina, Kantelinen, Jukka, Papi, Laura, De Angioletti, Maria, Berardi, Margherita, Gaildrat, Pascaline, Soukarieh, Omar, Turchetti, Daniela, Martins, Alexandra, Spurdle, Amanda B., Nyström, Minna, Genuardi, Maurizio

المصدر: Human Mutation
Human Mutation, Wiley, 2017, 38 (1), pp.64-77. ⟨10.1002/humu.23117⟩
Tricarico, R, Kasela, M, Mareni, C, Thompson, B A, Drouet, A, Staderini, L, Gorelli, G, Crucianelli, F, Ingrosso, V, Kantelinen, J, Papi, L, Angioletti, M D, Berardi, M, Gaildrat, P, Soukarieh, O, Turchetti, D, Martins, A, Spurdle, A B, Nyström, M, Genuardi, M & Farrington, S 2017, ' Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24 MLH1 and MSH2 Gene Variants ', Human Mutation, vol. 38, no. 1 . https://doi.org/10.1002/humu.23117
Human mutation 38 (2017): 64–67. doi:10.1002/humu.23117
info:cnr-pdr/source/autori:Tricarico, Rossella; Kasela, Mariann; Mareni, Cristina; Thompson, Bryony A; Drouet, Aurelie; Staderini, Lucia; Gorelli, Greta; Crucianelli, Francesca; Ingrosso, Valentina; Kantelinen, Jukka; Papi, Laura; De Angioletti, Maria; Berardi, Margherita; Gaildrat, Pascaline; Soukarieh, Omar; Turchetti, Daniela; Martins, Alexandra; Spurdle, Amanda B; Nystrom, Minna; Genuardi, Maurizio/titolo:Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24 MLH1 and MSH2 Gene Variants./doi:10.1002%2Fhumu.23117/rivista:Human mutation/anno:2017/pagina_da:64/pagina_a:67/intervallo_pagine:64–67/volume:38

مصطلحات موضوعية: 0301 basic medicine, Genetic Linkage, [SDV]Life Sciences [q-bio], functional assays, Lynch syndrome, microsatellite instability, multifactorial analysis, splicing, Variants of Uncertain Significance (VUS), Genetics, Genetics (clinical), Splicing, Settore MED/03 - GENETICA MEDICA, Germline, Interpretation (model theory), Gene Frequency, Databases, Genetic, Promoter Regions, Genetic, ComputingMilieux_MISCELLANEOUS, education.field_of_study, MLH1, Chromosome Mapping, Multifactorial analysi, Immunohistochemistry, 3. Good health, MutS Homolog 2 Protein, Phenotype, DNA mismatch repair, Microsatellite Instability, MutL Protein Homolog 1, Genotype, Population, Biology, 03 medical and health sciences, Genetic, Biomarkers, Tumor, Humans, Genetic Predisposition to Disease, Functional assay, Allele, education, Gene, Alleles, Genetic Association Studies, Genetic Variation, MLH1 and MSH2 Gene Variants, MSH2, Alternative Splicing, 030104 developmental biology, Mutation, Microsatellite Repeats

وصف الملف: application/pdf; STAMPA

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b44005fa939110736d4e653248279c18
http://hdl.handle.net/10807/93629

المؤلفون: Amanda J. Hooper, John R. Burnett, Leon A. Adams

المصدر: Journal of Lipid Research, Vol 52, Iss 4, Pp 593-617 (2011)

مصطلحات موضوعية: Liver Cirrhosis, Male, nonalcoholic fatty liver disease, medicine.medical_specialty, Cirrhosis, Population, QD415-436, Polymorphism, Single Nucleotide, gene variants, Biochemistry, Gastroenterology, Endocrinology, Insulin resistance, Non-alcoholic Fatty Liver Disease, Internal medicine, Nonalcoholic fatty liver disease, medicine, Humans, Genetic Predisposition to Disease, education, education.field_of_study, business.industry, cirrhosis, fibrosis, Fatty liver, Thematic Review, nutritional and metabolic diseases, Cell Biology, medicine.disease, alcoholic fatty liver disease, digestive system diseases, Fatty Liver, genetic factors, Metabolic syndrome, Steatosis, business, Dyslipidemia

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::59fb7aa1ce46ed37d3796919c44aa622
https://doi.org/10.1194/jlr.r008896