المؤلفون: Martin Litzel, Gianluca Caridi, Francesca Lugani, Monica Campagnoli, Lorenzo Minchiotti, Stefan Fischli

المصدر: Case Reports in Endocrinology, Vol 2020 (2020)

مصطلحات موضوعية: Diseases of the endocrine glands. Clinical endocrinology, RC648-665

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2090-6501; https://doaj.org/toc/2090-651X

URL الوصول: https://doaj.org/article/d01e6a5779d54927a3a48c1f17a547be

المؤلفون: Lorenzo Minchiotti, Gianluca Caridi, Monica Campagnoli, Francesca Lugani, Monica Galliano, Ulrich Kragh-Hansen

المصدر: Frontiers in Genetics, Vol 10 (2019)

مصطلحات موضوعية: analbuminemia, autosomal recessive, frequency, preterm birth, hyperlipidemia, compensatory mechanisms, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fgene.2019.00336/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/e430046ad1554aae837c4bc273f79f12

المؤلفون: Ulrich Kragh-Hansen, Monica Galliano, Lorenzo Minchiotti

المصدر: Frontiers in Endocrinology, Vol 8 (2017)

مصطلحات موضوعية: l-thyroxine, euthyroid hyperthyroxinemia, triiodothyronine, albumin, prevalence, binding sites, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

وصف الملف: electronic resource

Relation: http://journal.frontiersin.org/article/10.3389/fendo.2017.00297/full; https://doaj.org/toc/1664-2392

URL الوصول: https://doaj.org/article/db0fba34091b44d0b7a2b11f7e99143a

المؤلفون: Gianluca Caridi, Francesca Lugani, Andrea Angeletti, Monica Campagnoli, Monica Galliano, Lorenzo Minchiotti

المصدر: International Journal of Molecular Sciences; Volume 23; Issue 3; Pages: 1159

مصطلحات موضوعية: genetic variants, structural changes, stability: ligand binding, pharmacokinetics, congenital analbuminaemia

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Biology; https://dx.doi.org/10.3390/ijms23031159

الاتاحة: https://doi.org/10.3390/ijms23031159

المؤلفون: D Schröpfer, A M de Luca, Lorenzo Minchiotti, Francesca Lugani, Monica Campagnoli, Gianluca Caridi, Monica Galliano, A Farokhnia

المصدر: British Journal of Biomedical Science. 78:154-157

مصطلحات موضوعية: Microbiology (medical), media_common.quotation_subject, Clinical Biochemistry, Immunology, Nonsense, Serum albumin, Microbiology, 03 medical and health sciences, 0302 clinical medicine, medicine, Immunology and Allergy, Analbuminaemia, Gene, media_common, 0303 health sciences, biology, 030306 microbiology, Biochemistry (medical), Albumin, Single-strand conformation polymorphism, Human serum albumin, medicine.disease, Molecular biology, eye diseases, Infectious Diseases, 030220 oncology & carcinogenesis, biology.protein, Heteroduplex, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::d652130150342c86d11b5fc5420d0d47
https://doi.org/10.1080/09674845.2020.1819632

المؤلفون: Teresa Troiano, Francesca Lugani, Lorenzo Minchiotti, Patrizia Suppressa, Monica Campagnoli, Concetta Carbonara, Carlo Sabbà

المصدر: World Journal of Clinical Cases

مصطلحات موضوعية: medicine.medical_specialty, Atorvastatin, Hypercholesterolemia, Disease, Gastroenterology, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Case report, medicine, Hypoalbuminemia, Kidney, Proteinuria, business.industry, Albumin, Congenital analbuminemia, nutritional and metabolic diseases, General Medicine, medicine.disease, medicine.anatomical_structure, 030220 oncology & carcinogenesis, 030211 gastroenterology & hepatology, medicine.symptom, business, Rare disease, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::889cff75342257a33a3b900335f2127c
http://europepmc.org/articles/PMC6397822

المؤلفون: Monica Dagnino, Gianluca Caridi, Ueli Haenni, Adrian Duss, Fabienne Aregger, Monica Campagnoli, Monica Galliano, Lorenzo Minchiotti

المصدر: International Journal of Molecular Sciences; Volume 12; Issue 11; Pages: 7314-7322

مصطلحات موضوعية: human serum albumin, analbuminemia, heteroduplex analysis, single-strand conformation polymorphism, DNA sequence

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Pathology, Diagnostics, and Therapeutics; https://dx.doi.org/10.3390/ijms12117314

الاتاحة: https://doi.org/10.3390/ijms12117314

المؤلفون: Eleonora Perani, Enrico Monzani, Assunta Romano, Lorenzo Minchiotti, Monica Galliano, Alberto Sala, Monica Campagnoli, Sara Labò

مصطلحات موضوعية: Cell Biology, Molecular Biology, Biochemistry

Relation: url:https://www.openaccessrepository.it/communities/itmirror; https://www.openaccessrepository.it/record/95355

الاتاحة: https://www.openaccessrepository.it/record/95355
https://doi.org/10.1074/jbc.m408242200

المؤلفون: Mohamed El Amine Abada, Ersin Sayar, Francesca Lugani, Monica Galliano, Lorenzo Minchiotti, Monica Campagnoli, Reha Artan, Abdelbasset Maout, Gianluca Caridi

المساهمون: ALKÜ, 0-belirlenecek

المصدر: Annals of Laboratory Medicine

مصطلحات موضوعية: 0301 basic medicine, Genetics, biology, Sequence analysis, Biochemistry (medical), Clinical Biochemistry, Serum albumin, Congenital analbuminemia, Albumin, General Medicine, 03 medical and health sciences, chemistry.chemical_compound, 030104 developmental biology, 0302 clinical medicine, chemistry, Polymorphism (computer science), RNA splicing, biology.protein, 030212 general & internal medicine, Gene, Letter to the Editor, Diagnostic Genetics, DNA

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b9b33134b9551ddf6fe58cccfb3992e9
http://europepmc.org/articles/PMC5736683

المؤلفون: Monica Campagnoli, Martin Litzel, Lorenzo Minchiotti, Stefan Fischli, Francesca Lugani, Gianluca Caridi

المصدر: Case Reports in Endocrinology, Vol 2020 (2020)
Case Reports in Endocrinology

مصطلحات موضوعية: medicine.medical_specialty, business.industry, Endocrinology, Diabetes and Metabolism, Recurrent hypoglycemia, Albumin, Congenital analbuminemia, nutritional and metabolic diseases, 030209 endocrinology & metabolism, Lipid metabolism, Case Report, 030204 cardiovascular system & hematology, Hypoglycemia, medicine.disease, RC648-665, Gastroenterology, Diseases of the endocrine glands. Clinical endocrinology, 03 medical and health sciences, 0302 clinical medicine, Moxifloxacin, Internal medicine, medicine, Analbuminemia, Risk factor, business, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f5aaa345ec81f89a71710281ef4d9e15
https://doaj.org/article/d01e6a5779d54927a3a48c1f17a547be

المؤلفون: Francesca Lugani, Monica Campagnoli, Monica Galliano, Ilidio B.R. de Abreu, José A. Alves, Lorenzo Minchiotti, Gianluca Caridi

المصدر: Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP

مصطلحات موضوعية: 0301 basic medicine, Adult, Serum albumin, Serum Albumin, Human, Pathology and Forensic Medicine, 03 medical and health sciences, medicine, Humans, Analbuminaemia, Gene, Genetics, biology, Portugal, medicine.disease, Madeira Island, Human genetics, language.human_language, 030104 developmental biology, Italy, Mutation (genetic algorithm), RNA splicing, Mutation, biology.protein, language, Female, Portuguese

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cb30dbfa5b7221cf4d9ad7df818020ab

المؤلفون: Francesca Lugani, Lorenzo Minchiotti, Patrick Van den Abeele, Valérie Layet, Marie-Sophie Gavard, Brigitte Rigat, Gianluca Caridi, Monica Galliano, Monica Campagnoli

المصدر: European journal of medical genetics. 62(2)

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, medicine.medical_specialty, Serum Albumin, Human, Consanguinity, 030105 genetics & heredity, Biology, medicine.disease_cause, Frameshift mutation, 03 medical and health sciences, Exon, Molecular genetics, Genetics, medicine, Humans, Gene, Genetics (clinical), Aged, Mutation, Congenital analbuminemia, General Medicine, Pedigree, 030104 developmental biology, Phenotype, Analbuminemia, Codon, Terminator, Female, Hypoalbuminemia

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::33ec856ab820e55e5aea1437d9e35fc7
https://pubmed.ncbi.nlm.nih.gov/29981851

المؤلفون: Serdar Alan, Monica Galliano, Begüm Atasay, Duran Yildiz, Lorenzo Minchiotti, Omer Erdeve, Monica Dagnino, Saadet Arsan, Marco Di Duca, Gianluca Caridi, Monica Campagnoli

المصدر: Biochemia Medica
Volume 24
Issue 1

مصطلحات موضوعية: Proband, Adult, Male, Adolescent, Clinical Biochemistry, Molecular Sequence Data, Case Report, Serum Albumin, Human, Heteroduplex Analysis, human serum albumin, albumin gene, congenital analbuminemia, DNA and cDNA sequence analysis, splicing mutation, Biology, Compound heterozygosity, Exon, Young Adult, Humans, Polymorphism, Single-Stranded Conformational, Serum Albumin, Genetics, Base Sequence, Biochemistry (medical), Alternative splicing, Congenital analbuminemia, Intron, Infant, Newborn, Middle Aged, Molecular biology, Pedigree, Alternative Splicing, RNA splicing, Mutation, Analbuminemia, Female, Hypoalbuminemia

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fc2f1b0e620fb9ffe6a0f3865de7c8de
http://europepmc.org/articles/PMC3936982

المؤلفون: Gianluca Caridi, Monica Galliano, Francesca Lugani, Lorenzo Minchiotti, Monica Dagnino, Monica Campagnoli, Stavit A. Shalev, Ronen Spiegel

المصدر: European Journal of Clinical Investigation. 43:72-78

مصطلحات موضوعية: Genetics, education.field_of_study, Mutation, biology, Clinical Biochemistry, Population, Serum albumin, Congenital analbuminemia, General Medicine, Compound heterozygosity, medicine.disease_cause, Biochemistry, Molecular biology, biology.protein, medicine, Analbuminemia, Missense mutation, Transversion, education

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::b337f64c1c6d986cd9832ba8e254e26a
https://doi.org/10.1111/eci.12019

المؤلفون: Gianluca Caridi, Fabienne Aregger, Ueli Haenni, Adrian Duss, Monica Galliano, Monica Campagnoli, Monica Dagnino, Lorenzo Minchiotti

المصدر: International Journal of Molecular Sciences
International Journal of Molecular Sciences, Vol 12, Iss 11, Pp 7314-7322 (2011)

مصطلحات موضوعية: Male, Nonsense mutation, Serum albumin, DNA sequence, Heteroduplex Analysis, Biology, Catalysis, Inorganic Chemistry, lcsh:Chemistry, Exon, Asian People, medicine, single-strand conformation polymorphism, Humans, Physical and Theoretical Chemistry, Pathology, Molecular, Transversion, Molecular Biology, lcsh:QH301-705.5, Spectroscopy, Polymorphism, Single-Stranded Conformational, Serum Albumin, Communication, Organic Chemistry, Single-strand conformation polymorphism, General Medicine, Exons, Sequence Analysis, DNA, Middle Aged, Human serum albumin, Molecular biology, Stop codon, Computer Science Applications, lcsh:Biology (General), lcsh:QD1-999, human serum albumin, analbuminemia, Codon, Nonsense, Analbuminemia, biology.protein, Switzerland, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::157bf6c25da41f7e55f4c8ed63dc4ec5
http://europepmc.org/articles/PMC3233406

المؤلفون: Zeki Aydin, Gianluca Caridi, Monica Dagnino, Lorenzo Minchiotti, Zeynep Karaali, Monica Galliano, Kivanc Cefle, Meltem Gursu, Monica Campagnoli, Rumeyza Kazancioglu, Savas Ozturk

المساهمون: KAZANCIOĞLU, RÜMEYZA, GÜRSU, MELTEM

المصدر: Clinica Chimica Acta. 411:1711-1715

مصطلحات موضوعية: Proband, Turkey, DNA Mutational Analysis, Clinical Biochemistry, Serum albumin, Biology, Biochemistry, Frameshift mutation, Young Adult, Exon, Humans, Frameshift Mutation, Gene, Serum Albumin, Sequence Deletion, Genetics, Homozygote, Biochemistry (medical), Congenital analbuminemia, Single-strand conformation polymorphism, General Medicine, Molecular biology, Codon, Nonsense, Analbuminemia, biology.protein, Female

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d9fa19243cd87de6bfaa408e8e33384
https://doi.org/10.1016/j.cca.2010.07.009

المؤلفون: F. Chiodo, Monica Galliano, Monica Dagnino, Davide Tassinari, Ilaria Bettocchi, Gianluca Caridi, Monica Campagnoli, M. Marsciani, Filippo Bernardi, Lorenzo Minchiotti

المصدر: European Journal of Clinical Investigation. 40:281-284

مصطلحات موضوعية: Proband, DNA Mutational Analysis, Clinical Biochemistry, Serum albumin, Biology, Compound heterozygosity, Biochemistry, Frameshift mutation, Exon, medicine, Humans, Child, Frameshift Mutation, Analbuminaemia, Polymorphism, Single-Stranded Conformational, Serum Albumin, Genetics, Single-strand conformation polymorphism, Exons, General Medicine, medicine.disease, Molecular biology, Italy, biology.protein, Female, Heteroduplex

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d072b4a6b72bfa2a9d77147892bf3366
https://doi.org/10.1111/j.1365-2362.2010.02256.x

المؤلفون: Maurizia Valli, Monica Galliano, Sara Labò, Livia Visai, Lorenzo Dolcini, Lorenzo Minchiotti, Alberto Sala, Hugo L. Monaco, Monica Campagnoli

المصدر: FEBS Journal. 276:6033-6046

مصطلحات موضوعية: chemistry.chemical_classification, Protease, medicine.diagnostic_test, medicine.medical_treatment, Proteolysis, Cell Biology, Biology, Trypsin, Biochemistry, Insulin-like growth factor-binding protein, Amino acid, PEST sequence, chemistry, medicine, biology.protein, Phosphorylation, Protein phosphorylation, Molecular Biology, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::23357360d6fcdeafbdcea1badfdf5c5b
https://doi.org/10.1111/j.1742-4658.2009.07318.x

المؤلفون: Monica Dagnino, Lars Palmqvist, Gianluca Caridi, Lorenzo Minchiotti, Monica Campagnoli, Per Hansson, Monica Galliano, Maurizio Bruschi, Giovanni Candiano, Lorenzo Dolcini

المصدر: Clinica Chimica Acta. 396:89-92

مصطلحات موضوعية: Adult, Male, Sweden, Genetics, Proband, Base Sequence, Genome, Human, Sequence analysis, Biochemistry (medical), Clinical Biochemistry, Single-strand conformation polymorphism, Exons, General Medicine, Biology, Biochemistry, Molecular biology, Frameshift mutation, Exon, Mutation, Analbuminemia, Humans, Electrophoresis, Gel, Two-Dimensional, Gene, Hypoalbuminemia, Heteroduplex

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f24e0f727c36046829fb0a8ee669703c
https://doi.org/10.1016/j.cca.2008.06.008

المؤلفون: Francesca Lugani, Monica Campagnoli, Elif Yilmaz Gulec, Lorenzo Minchiotti, Duzgun Kilic, Hasan Onal, Gianluca Caridi, Monica Galliano

المصدر: Biochemia Medica
Volume 26
Issue 2

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, medicine.medical_specialty, Turkey, congenital analbuminemia, DNA mutational analysis, single base deletion, frame-shift, Clinical Biochemistry, Case Report, Heteroduplex Analysis, Biology, medicine.disease_cause, Frameshift mutation, 03 medical and health sciences, Exon, Molecular genetics, medicine, Humans, Allele, Frameshift Mutation, Serum Albumin, Sequence Deletion, Genetics, Mutation, Biochemistry (medical), Homozygote, Congenital analbuminemia, High-Throughput Nucleotide Sequencing, Infant, Molecular biology, Stop codon, Pedigree, 030104 developmental biology, Analbuminemia, Female

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a6653413d8b735887232a7619ac6ab35
https://hrcak.srce.hr/161701