-
1دورية أكاديمية
المؤلفون: Elisa Benetti, Gianluca Caridi, Sonia Centi, Manuela Della Vella, Gian Marco Ghiggeri, Lina Artifoni, Luisa Murer
المصدر: Saudi Journal of Kidney Diseases and Transplantation, Vol 25, Iss 4, Pp 854-857 (2014)
مصطلحات موضوعية: Medicine
وصف الملف: electronic resource
-
2
المؤلفون: Susanna Negrisolo, Luisa Murer, Sonia Centi, Giulia Ghirardo, Elisa Benetti, Manuela Della Vella, Lina Artifoni
المصدر: Journal of Nephrology. 27:667-671
مصطلحات موضوعية: Male, Nephrology, medicine.medical_specialty, Pathology, Adolescent, Urinary system, DNA Mutational Analysis, Population, Real-Time Polymerase Chain Reaction, Young Adult, Exon, Ureter, Risk Factors, Internal medicine, medicine, Humans, Genetic Predisposition to Disease, education, Gene, Hydronephrosis, Retrospective Studies, Homeodomain Proteins, Vesico-Ureteral Reflux, education.field_of_study, Kidney, business.industry, Exons, medicine.disease, Phenotype, medicine.anatomical_structure, Endocrinology, Urogenital Abnormalities, Mutation, Female, business, Gene Deletion
-
3
المؤلفون: Lina Artifoni, P. Marangoni, D. Caufin, Carlo Baccichetti, Elisabetta Lenzini
المصدر: Clinical Genetics. 34:219-223
مصطلحات موضوعية: Adult, Cri-du-Chat Syndrome, Male, Genetics, Adolescent, Cri du chat, Chromosome Mapping, Chromosome, Karyotype, Cochlear malformation, Biology, medicine.disease, Phenotype, Karyotyping, medicine, Chromosomes, Human, Pair 5, Humans, Female, Family cluster, Chromosome Deletion, Child, Genetics (clinical)
-
4Interleukin-8 and CXCR1 Receptor Functional Polymorphisms and Susceptibility to Acute Pyelonephritis
المؤلفون: Waifro Rigamonti, Graziella Zacchello, Luisa Murer, Lina Artifoni, Susanna Negrisolo, R Destro, Giovanni Montini, Walburga Cassar, Franca Anglani, Pietro Zucchetta, Pier Paolo Molinari
المصدر: Journal of Urology. 177:1102-1106
مصطلحات موضوعية: Male, Nephrology, medicine.medical_specialty, Urology, Urinary system, Vesicoureteral reflux, Umbilical cord, Receptors, Interleukin-8A, Polymorphism (computer science), Internal medicine, Genotype, Humans, Medicine, Genetic Predisposition to Disease, Child, Vesico-Ureteral Reflux, First episode, Polymorphism, Genetic, Pyelonephritis, business.industry, Interleukin-8, Infant, Newborn, Infant, medicine.disease, medicine.anatomical_structure, Case-Control Studies, Child, Preschool, Acute Disease, Urinary Tract Infections, Immunology, Female, business, Kidney disease
-
5
المؤلفون: Elisa Benetti, Andrea Bordugo, Barbara Andreetta, Luisa Murer, Lina Artifoni
المصدر: Experimental and Molecular Pathology. 86:74-76
مصطلحات موضوعية: Pathology, medicine.medical_specialty, Hypoparathyroidism, Hearing Loss, Sensorineural, Clinical Biochemistry, Locus (genetics), GATA3 Transcription Factor, Biology, Pathology and Forensic Medicine, Pregnancy, Locus heterogeneity, DiGeorge syndrome, DiGeorge Syndrome, medicine, Humans, Child, Molecular Biology, Kidney, Membrane Glycoproteins, Chromosomes, Human, Pair 10, GATA3, Membrane Proteins, Syndrome, medicine.disease, Kidney Transplantation, Renal dysplasia, Transplantation, Phenotype, medicine.anatomical_structure, Platelet Glycoprotein GPIb-IX Complex, Female, Kidney Diseases, Sensorineural hearing loss
-
6
المؤلفون: Leonardo Salviati, Luisa Pinello, Luisa Murer, Graziella Zacchello, Silverio Perrotta, Lina Artifoni, Orsetta Zuffardi, Elisa Benetti
المساهمون: Benetti, E, Artifoni, L, Salviati, L, Pinello, L, Perrotta, Silverio, Zuffardi, O, Zacchello, G, Murer, L.
المصدر: Nephrology Dialysis Transplantation. 22:2076-2078
مصطلحات موضوعية: coloboma gene deletion haploinsufficiency PAX2 gene rare kidney diseases renal coloboma syndrome renal developmental anomalies renal hypodysplasia, medicine.medical_specialty, Pathology, PAX2, Gene Dosage, Kidney, PAX2 gene, Gene dosage, Internal medicine, medicine, Humans, Child, Transplantation, Coloboma, Chromosomes, Human, Pair 10, business.industry, PAX2 Transcription Factor, Optic Nerve, Gene deletion, medicine.disease, Renal hypoplasia, Hypoplasia, Endocrinology, Nephrology, Karyotyping, renal hypodysplasia, Female, Haploinsufficiency, business, Gene Deletion, Kidney disease
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::31e2af98ac05e664f480f3070e1c2726
https://doi.org/10.1093/ndt/gfm187 -
7
المؤلفون: Alessandra Murgia, Paola Drigo, M. Salis, Roberta Polli, Cinzia Vinanzi, Lina Artifoni, Franco Zacchello
المصدر: American Journal of Medical Genetics. 64:441-444
مصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, X Chromosome, Population, Stanford-Binet Test, Gene mutation, Biology, Gene mapping, Reference Values, Intellectual Disability, Humans, education, Index case, Sex Chromosome Aberrations, Genetics (clinical), Southern blot, Genetics, education.field_of_study, Chromosome Fragile Sites, Chromosome Fragility, Chromosomal fragile site, Chromosome Mapping, DNA, DNA Methylation, Xq28, Blotting, Southern, Child, Preschool, Mutation (genetic algorithm), Female
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::357b74c180003902a1394e74def301cc
https://doi.org/10.1002/(sici)1096-8628(19960809)64:2<441::aid-ajmg41>3.0.co;2-c -
8
المؤلفون: Anna Maria Laverda, Sabina Carrà, Lina Artifoni, Paola Drigo
المصدر: Brain and Development. 18:312-315
مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Monosomy, Pediatrics, X Chromosome, Chromosomal translocation, Chromosome Disorder, Translocation, Genetic, Developmental Neuroscience, medicine, Humans, X chromosome, Chromosome 7 (human), Neurocutaneous Syndromes, Psychomotor retardation, business.industry, Skull, Macrocephaly, Brain, General Medicine, medicine.disease, Chromosome Banding, Surgery, Child, Preschool, Karyotyping, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), medicine.symptom, Tomography, X-Ray Computed, business, Chromosomes, Human, Pair 7
-
9
المؤلفون: Lina Artifoni, Luisa Murer, Sonia Centi, G. F. Zanon, Susanna Negrisolo, M. Della Vella, Giulia Ghirardo, Elisa Benetti
مصطلحات موضوعية: Papillorenal syndrome, Male, medicine.medical_specialty, Adolescent, Urinary system, DNA Mutational Analysis, Molecular Sequence Data, Gene mutation, Biology, urologic and male genital diseases, Kidney, Gastroenterology, Young Adult, Internal medicine, Genetics, medicine, Humans, Eye Abnormalities, Genetic Testing, Child, Frameshift Mutation, Genetics (clinical), Kidney transplantation, Retrospective Studies, Splice site mutation, Base Sequence, urogenital system, PAX2 Transcription Factor, medicine.disease, Kidney Transplantation, body regions, Transplantation, medicine.anatomical_structure, Endocrinology, Dysplasia, Urogenital Abnormalities, Kidney Failure, Chronic, Female, sense organs, Sequence Alignment
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::84b054ae7c9a32fc6ebdfe3cc6e2db64
http://hdl.handle.net/11577/2715081 -
10
المؤلفون: Monica Dagnino, Silvio C. E. Tosatto, Gian Marco Ghiggeri, Luisa Murer, Lina Artifoni, Elisa Benetti, Cristina Malaventura, Gianluca Caridi, Emanuela Leonardi
مصطلحات موضوعية: Male, Models, Molecular, Pathology, Epidemiology, Protein Conformation, Biopsy, DNA Mutational Analysis, Critical Care and Intensive Care Medicine, urologic and male genital diseases, Exon, Focal segmental glomerulosclerosis, Glomerulosclerosis, Wilms tumor, WT1 Gene Mutation, Risk Factors, Medicine, Age of Onset, Glomerulosclerosis, Focal Segmental, Podocytes, Exons, Middle Aged, Phenotype, Frasier syndrome, Pedigree, Proteinuria, Italy, Nephrology, Disease Progression, Adult, medicine.medical_specialty, Genes, Wilms Tumor, Adolescent, NO, Structure-Activity Relationship, Humans, Genetic Predisposition to Disease, WT1 Proteins, Gene, Aged, Transplantation, business.industry, urogenital system, Intron, Computational Biology, Wilms' tumor, Original Articles, medicine.disease, Amino Acid Substitution, Mutation, Kidney Failure, Chronic, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49e51373504ded21819ebb9724449fbb
https://europepmc.org/articles/PMC2849688/