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1دورية أكاديمية
المؤلفون: Marco Ritelli, Nicola Chiarelli, Nicoletta Zoppi, Chiara Dordoni, Stefano Quinzani, Michele Traversa, Marina Venturini, Piergiacomo Calzavara-Pinton, Marina Colombi
المصدر: Molecular Genetics and Metabolism Reports, Vol 2, Iss C, Pp 1-15 (2015)
مصطلحات موضوعية: B3GALT6, GalT-II deficiency, Spondyloepimetaphyseal dysplasia with joint laxity type 1, Ehlers–Danlos syndrome, Cartilage oligomeric matrix protein, Osteopontin, Medicine (General), R5-920, Biology (General), QH301-705.5
وصف الملف: electronic resource
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المؤلفون: Chiara Dordoni, Piergiacomo Calzavara-Pinton, Nicola Chiarelli, Marina Colombi, Nicoletta Zoppi, Marina Venturini, Marco Ritelli, Stefano Quinzani, Michele Traversa
المصدر: Molecular Genetics and Metabolism Reports, Vol 2, Iss C, Pp 1-15 (2015)
مصطلحات موضوعية: Ehlers–Danlos syndrome, Connective tissue, Perlecan, GalT-II deficiency, B3GALT6 GalT-II deficiency Spondyloepimetaphyseal dysplasia with joint laxity type 1 Ehlers–Danlos syndrome Cartilage oligomeric matrix protein Osteopontin, Transcriptome, Extracellular matrix, Cartilage oligomeric matrix protein, chemistry.chemical_compound, Endocrinology, Spondyloepimetaphyseal dysplasia with joint laxity type 1, Genetics, medicine, lcsh:QH301-705.5, Molecular Biology, B3GALT6, lcsh:R5-920, biology, Cartilage, Heparan sulfate, Cell biology, Gene expression profiling, medicine.anatomical_structure, lcsh:Biology (General), chemistry, biology.protein, Osteopontin, lcsh:Medicine (General)
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المؤلفون: Nicola Chiarelli, Lidia Pezzani, Marco Ritelli, Piergiacomo Calzavara-Pinton, Marina Venturini, Stefano Quinzani, Marina Colombi, Chiara Dordoni
المصدر: Journal of Dermatological Science. 75:66-68
مصطلحات موضوعية: ATP6V0A2, DNA Mutational Analysis, Dermatology, Biology, medicine.disease_cause, Biochemistry, Predictive Value of Tests, ARCL2A, medicine, Humans, Exome, Genetic Predisposition to Disease, Genetic Testing, Skin pathology, Molecular Biology, Exome sequencing, Skin, Cutis laxa, Next Generation Sequencin, Genetic testing, Genetics, Mutation, medicine.diagnostic_test, Infant, medicine.disease, Proton-Translocating ATPases, Phenotype, Female, Identification (biology)
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المؤلفون: Gioacchino Scarano, Giuseppe Santoro, Elena Reffo, Piergiacomo Calzavara-Pinton, Stefano Quinzani, Marina Colombi, Marina Venturini, Chiara Dordoni, Matteo Della Monica, Nicola Chiarelli, Maria Giovanna Russo, Ornella Milanesi, Marco Ritelli
المصدر: BMC Medical Genetics
مصطلحات موضوعية: Joint hypermobility, Joint Instability, Male, medicine.medical_specialty, Arterial tortuosity syndrome, Connective Tissue Disorder, Adolescent, Vascular Malformations, Glucose Transport Proteins, Facilitative, Mutation, Missense, Case Report, Pulmonary artery stenosis, Biology, Skin Diseases, Homozygous mutations, SLC2A10, Arteries, Child, Genetic Predisposition to Disease, Homozygote, Humans, Pedigree, Respiratory Distress Syndrome, Newborn, Skin Diseases, Genetic, Genetics (clinical), Genetics, Genetic, Internal medicine, medicine, Missense mutation, Genetics(clinical), Respiratory Distress Syndrome, Facilitative, medicine.disease, Newborn, Human genetics, Dissection, Stenosis, Mutation, Cardiology, Missense, Glucose Transport Proteins, Arterial Tortuosity Syndrome, arterial tortuosity syndrome, homozygous mutations, pulmonary artery stenosis
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المؤلفون: Chiara Dordoni, Piergiacomo Calzavara-Pinton, Marco Ritelli, Marina Venturini, Marina Colombi, Nicola Chiarelli, Stefano Quinzani
المصدر: British Journal of Dermatology. 168:904-906
مصطلحات موضوعية: Genetics, Dystrophic epidermolysis bullosa, business.industry, Mutation (genetic algorithm), COL7A1 Gene, Generalized dystrophic epidermolysis bullosa, Medicine, Dermatology, business, Compound heterozygosity
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المؤلفون: Nicola Chiarelli, Giovanni Cancarini, Marco Ritelli, Guido Jeannin, Marina Colombi, Stefano Possenti, Paolo Maiorca, Mario Gaggiotti, Stefano Quinzani, Federica Verzeletti
المصدر: BMC Medical Genetics
مصطلحات موضوعية: Male, Organic anion transporter 1, Glucose Transport Proteins, Facilitative, Renal hypouricemia, Organic Anion Transporters, Case Report, hypouricemia, acute renal failure, Familial renal hypouricemia, urologic and male genital diseases, Compound heterozygosity, p.Gly216Arg, Gastroenterology, chemistry.chemical_compound, Recurrence, Genetics(clinical), Pakistan, Hypouricemia, Child, Genetics (clinical), biology, Acute kidney injury, Acute Kidney Injury, Middle Aged, Phenotype, Child, Preschool, SLC22A12, Female, Urinary Calculi, Adult, medicine.medical_specialty, Heterozygote, Renal Tubular Transport, Inborn Errors, Adolescent, Genotype, Organic Cation Transport Proteins, SLC2A9 mutations, Excretion, Young Adult, Asian People, Renal Dialysis, Internal medicine, Genetics, medicine, Humans, Exercise-induced acute renal failure, Exercise, Aged, Base Sequence, business.industry, p.Arg380Trp, medicine.disease, Uric Acid, Endocrinology, chemistry, Mutation, biology.protein, Uric acid, business, SLC2A9
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b2fd54a9c3b4a863b9fe2f7b3d3cfab
http://hdl.handle.net/11379/352508 -
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المؤلفون: Livia Garavelli, Piergiacomo Calzavara-Pinton, Anita Wischmeijer, Marina Venturini, Nicola Chiarelli, Stefano Quinzani, Michele Traversa, Emanuela Manfredini, Nicoletta Zoppi, Chiara Dordoni, Marco Ritelli, Annalisa Vascellaro, Marina Colombi
المصدر: Orphanet Journal of Rare Diseases
مصطلحات موضوعية: Adult, Male, Classic Ehlers-Danlos syndrome, COL5A1, COL5A2, COL1A1, rare connective tissue disorder, Proband, Joint hypermobility, medicine.medical_specialty, Adolescent, Haploinsufficiency, Diagnostic flowchart, medicine, Humans, Family, Genetics(clinical), Pharmacology (medical), Multiplex ligation-dependent probe amplification, Family history, Child, Genetics (clinical), Genetic testing, Medicine(all), Genetics, Classic Ehlers–Danlos syndrome, medicine.diagnostic_test, business.industry, Genetic heterogeneity, Research, General Medicine, medicine.disease, Dermatology, MLPA, Nonsense Mediated mRNA Decay, Ehlers–Danlos syndrome, Mutation, Ehlers-Danlos Syndrome, Female, Collagen, business, Collagen Type V
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المساهمون: Dalla Valle L, Benato F, Maistro F, Quinzani F, Alibardi L
المصدر: Developmental and comparative immunology. 36(1)
مصطلحات موضوعية: green anoli, beta-Defensins, antimicrobial peptide, Immunology, Antimicrobial peptides, Amino Acid Motifs, Molecular Sequence Data, Anolis, biology.animal, parasitic diseases, Crotalid Venoms, Animals, Amino Acid Sequence, Cloning, Molecular, Peptide sequence, Gene, Phylogeny, genome analysis, Expressed Sequence Tags, Expressed sequence tag, Genome, integumentary system, biology, Sequence Homology, Amino Acid, Lizard, fungi, Alternative splicing, Computational Biology, Lizards, Snakes, Exons, beta-defensin, respiratory system, biology.organism_classification, Molecular biology, Immunity, Innate, Alternative Splicing, Beta defensin, Evolutionary biology, sense organs, Sequence Alignment, Developmental Biology
وصف الملف: STAMPA