نتائج البحث - "Nardone A."

1

Clinical and molecular characterizations of 11 new patients with type 1 Feingold syndrome: Proposal for selecting diagnostic criteria and further genetic testing in patients with severe phenotype

المؤلفون: Caterina Ceccarini, Valentina Imperatore, Stefania Troiani, Monia Magliozzi, Anna Maria Nardone, Amedea Mencarelli, Paolo Prontera, Antonio Novelli, Fortunato Lonardo, Daniela Rogaia, Maria Cristina Digilio, Maria Teresa Falco, Carla Cesarano, Marco Seri, Maria Giovanna Tedesco, Paolo Fontana, Chiara Leoni, Carmelo Piscopo

المصدر: American Journal of Medical Genetics Part A. 185:1204-1210

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::55c5aeabe085e4ff8dea9ed8eab51a2cTest
https://doi.org/10.1002/ajmg.a.62068Test

2

Functional variants in the sucrase-isomaltase gene associate with increased risk of irritable bowel syndrome

المؤلفون: Piero Portincasa, Fatemeh Hadizadeh, Gerardo Nardone, Giovanni Barbara, Lars Engstrand, Ghazaleh Assadi, Anna Andreasson, Louise B. Thingholm, Emeran A. Mayer, Lars Agréus, Lena Diekmann, John F. Baines, Martin Heine, Mauro D'Amato, Rosario Cuomo, Ottmar Distl, Ute Philipp, Aldona Dlugosz, Vincenzo Stanghellini, Magnus Simrén, Pontus Karling, Eva Maria Kuech, Andre Franke, C. Dierks, Matteo Neri, Michael Camilleri, Maria Henström, Maren von Köckritz-Blickwede, Ferdinando Bonfiglio, Susanna Walter, Hassan Y. Naim, Bodil Ohlsson, Mary E. Money, Greger Lindberg, Meriem Belheouane, Peter T. Schmidt, Lin Chang, Joseph Rafter, Paolo Usai-Satta, Francesca Galeazzi, Massimo Bellini, Femke-Anouska Heinsen, Tenghao Zheng

المساهمون: Henström, Maria, Diekmann, Lena, Bonfiglio, Ferdinando, Hadizadeh, Fatemeh, Kuech, Eva Maria, von Köckritz Blickwede, Maren, Thingholm, Louise B, Zheng, Tenghao, Assadi, Ghazaleh, Dierks, Claudia, Heine, Martin, Philipp, Ute, Distl, Ottmar, Money, Mary E, Belheouane, Meriem, Heinsen, Femke Anouska, Rafter, Joseph, Nardone, GERARDO ANTONIO PIO, Cuomo, Rosario, Usai Satta, Paolo, Galeazzi, Francesca, Neri, Matteo, Walter, Susanna, Simrén, Magnu, Karling, Pontu, Ohlsson, Bodil, Schmidt, Peter T, Lindberg, Greger, Dlugosz, Aldona, Agreus, Lar, Andreasson, Anna, Mayer, Emeran, Baines, John F, Engstrand, Lar, Portincasa, Piero, Bellini, Massimo, Stanghellini, Vincenzo, Barbara, Giovanni, Chang, Lin, Camilleri, Michael, Franke, Andre, Naim, Hassan Y, D'Amato, Mauro, Kuech, Eva-Maria, von Köckritz-Blickwede, Maren, Thingholm, Louise B., Money, Mary E., Heinsen, Femke-Anouska, Nardone, Gerardo, Usai-Satta, Paolo, Schmidt, Peter T., Baines, John F., Naim, Hassan Y.

المصدر: Gut

مصطلحات موضوعية: Male, DNA Mutational Analysis, Gene Dosage, DIARRHOEA, Bioinformatics, GENETICS, IRRITABLE BOWEL SYNDROME, POLYMORPHIC VARIATION, Adult, Animals, Carbohydrate Metabolism, Inborn Errors, Case-Control Studies, Cell Line, Cell Membrane, Defecation, Diarrhea, Exons, Feces, Female, Genotype, Haplorhini, Humans, Irritable Bowel Syndrome, Middle Aged, Phenotype, Polymorphism, Single Nucleotide, Risk Factors, Sucrase-Isomaltase Complex, Transfection, Gastroenterology, Sucrase-isomaltase complex, Pathogenesis, 0302 clinical medicine, Irritable bowel syndrome, 2. Zero hunger, Genetics, Inborn Errors, Single Nucleotide, 3. Good health, 030220 oncology & carcinogenesis, Medical genetics, Carbohydrate Metabolism, 030211 gastroenterology & hepatology, medicine.symptom, Sucrase-isomaltase, medicine.medical_specialty, Gastroenterology and Hepatology, Biology, Gene dosage, Neurogastroenterology, 03 medical and health sciences, medicine, Gastroenterologi, Polymorphism, Case-control study, medicine.disease

وصف الملف: application/pdf; STAMPA

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0bbaf7cf787cb86498166072005d30a1Test
http://hdl.handle.net/11568/948647Test

3

Testing single/combined clinical categories on 5110 Italian patients with developmental phenotypes to improve array‐based detection rate

المصدر: Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 8, Iss 1, Pp n/a-n/a (2020)

مصطلحات موضوعية: 0301 basic medicine, detection rate, medicine.medical_specialty, lcsh:QH426-470, DNA Copy Number Variations, Developmental Disabilities, Genetics, Medical, 030105 genetics & heredity, Sensitivity and Specificity, Chromosomal microarray analysis (CMA), pathogenic CNV, 03 medical and health sciences, clinical marker identification, Internal medicine, Genetics, medicine, Humans, Genetic Testing, Copy-number variation, Molecular Biology, Societies, Medical, Genetics (clinical), Oligonucleotide Array Sequence Analysis, Chromosome Aberrations, business.industry, Microarray analysis techniques, Retrospective cohort study, Congenital malformations, Original Articles, Phenotype, Human genetics, lcsh:Genetics, 030104 developmental biology, Italy, Practice Guidelines as Topic, Original Article, Detection rate, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b4b6658258edd9595ab4d3e15be67e45Test
https://doi.org/10.1002/mgg3.1056Test

4

Molecular cytogenetics characterization of seven small supernumerary marker chromosomes derived from chromosome 19: Genotype-phenotype correlation and review of the literature

المؤلفون: Isabella Mammi, Diana Postorivo, Aminta Varricchio, Maria Garzo, Elisa Nalesso, Teresa Mattina, Ilaria Catusi, Maria Paola Recalcati, Laura Cardarelli, Nicola Beltrami, Anna Sajeva, Maria Teresa Bonati, Daniela Giardino, Annapia Verri, Lidia Larizza, Asia Costa, Nicoletta Villa, Anna Maria Nardone

المصدر: European Journal of Medical Genetics. 61:173-180

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ee44c49bf4aa6e1d6440e91216290a5Test
https://doi.org/10.1016/j.ejmg.2017.11.007Test

5

Loss-of-Function of the Voltage-Gated Sodium Channel NaV1.5 (Channelopathies) in Patients With Irritable Bowel Syndrome

المساهمون: Beyder, A, Mazzone, A, Strege, Pr, Tester, Dj, Saito, Ya, Bernard, Ce, Enders, Ft, Ek, We, Schmidt, Pt, Dlugosz, A, Lindberg, G, Karling, P, Ohlsson, B, Gazouli, M, Nardone, GERARDO ANTONIO PIO, Cuomo, Rosario, Usai Satta, P, Galeazzi, F, Neri, M, Portincasa, P, Bellini, M, Barbara, G, Camilleri, M, Locke GR, 3rd, Talley, Nj, D'Amato, M, Ackerman, Mj, Farrugia, G., Beyder, Arthur, Mazzone, Amelia, Strege, Peter R, Tester, David J, Saito, Yuri A, Bernard, Cheryl E, Enders, Felicity T, Ek, Weronica E, Schmidt, Peter T, Dlugosz, Aldona, Lindberg, Greger, Karling, Pontu, Ohlsson, Bodil, Gazouli, Maria, Nardone, Gerardo, Usai-Satta, Paolo, Galeazzi, Francesca, Neri, Matteo, Portincasa, Piero, Bellini, Massimo, Barbara, Giovanni, Camilleri, Michael, Locke, G Richard, Talley, Nicholas J, D'Amato, Mauro, Ackerman, Michael J, Farrugia, Gianrico

المصدر: Gastroenterology. 146:1659-1668

مصطلحات موضوعية: Male, Proband, Genetics, GI Motility, Polymorphism, Voltage-Gated Sodium Channel, Adolescent, Adult, Aged, Case-Control Studies, Channelopathies, Constipation, DNA Mutational Analysis, Diarrhea, Female, Genetic Predisposition to Disease, Genome-Wide Association Study, HEK293 Cells, Humans, Irritable Bowel Syndrome, Membrane Potentials, Middle Aged, NAV1.5 Voltage-Gated Sodium Channel, Phenotype, Prevalence, Prospective Studies, Risk Factors, Transfection, Voltage-Gated Sodium Channel Blockers, Young Adult, Gastrointestinal Motility, Mutation, Missense, Gastroenterology, Genome-wide association study, Nav1.5, HEK293 Cell, Missense mutation, Irritable bowel syndrome, biology, cardiovascular system, Case-Control Studie, Human, medicine.drug, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Membrane Potential, Article, Channelopathie, DNA Mutational Analysi, Genetic, Mexiletine, Internal medicine, medicine, cardiovascular diseases, Hepatology, business.industry, Risk Factor, Case-control study, medicine.disease, Prospective Studie, Endocrinology, Voltage-Gated Sodium Channel Blocker, Mutation, biology.protein, Missense, business

وصف الملف: STAMPA

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6de6db4556c406511980f0953168251fTest
https://doi.org/10.1053/j.gastro.2014.02.054Test

6

Female-Specific Association Between Variants on Chromosome 9 and Self-Reported Diagnosis of Irritable Bowel Syndrome

المساهمون: Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI), Translational Immunology Groningen (TRIGR), Interne Geneeskunde, RS: NUTRIM - R2 - Liver and digestive health, Bonfiglio, Ferdinando, Zheng, Tenghao, Garcia-Etxebarria, Koldo, Hadizadeh, Fatemeh, Bujanda, Lui, Bresso, Francesca, Agreus, Lar, Andreasson, Anna, Dlugosz, Aldona, Lindberg, Greger, Schmidt, Peter T., Karling, Pontu, Ohlsson, Bodil, Simren, Magnu, Walter, Susanna, Nardone, Gerardo, Cuomo, Rosario, Usai-Satta, Paolo, Galeazzi, Francesca, Neri, Matteo, Portincasa, Piero, Bellini, Massimo, Barbara, Giovanni, Latiano, Anna, Hübenthal, Matthia, Thijs, Vincent, Netea, Mihai G., Jonkers, Daisy, Chang, Lin, Mayer, Emeran A., Wouters, Mira M., Boeckxstaens, Guy, Camilleri, Michael, Franke, Andre, Zhernakova, Alexandra, D'Amato, Mauro

المصدر: Gastroenterology, vol 155, iss 1
Gastroenterology, 155, 1, pp. 168-179
Gastroenterology, 155(1), 168-179. W B SAUNDERS CO-ELSEVIER INC
Gastroenterology, 155, 168-179
Gastroenterology, 155(1), 168-179. Elsevier Saunders

مصطلحات موضوعية: 0301 basic medicine, Male, Constipation, lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4], Genome-wide association study, Sex Factor, Bioinformatics, Irritable Bowel Syndrome, 0302 clinical medicine, Genotype, Medicine, 2.1 Biological and endogenous factors, Aetiology, Irritable bowel syndrome, POPULATION, RISK, education.field_of_study, Pain Research, Gastroenterology, Single Nucleotide, Middle Aged, Europe, Medical genetics, 030211 gastroenterology & hepatology, Female, medicine.symptom, Chromosomes, Human, Pair 9, Life Sciences & Biomedicine, Bowel Symptom, Human, Pair 9, United State, Adult, medicine.medical_specialty, GENETICS, Population, Clinical Sciences, Biobank Research, SNP, Single-nucleotide polymorphism, Chromosome 9, Polymorphism, Single Nucleotide, Article, Chromosomes, Paediatrics and Reproductive Medicine, 03 medical and health sciences, All institutes and research themes of the Radboud University Medical Center, AGE, Sex Factors, Genetic, Genetics, Humans, Genetic Predisposition to Disease, GENOME-WIDE ASSOCIATION, Polymorphism, education, METAANALYSIS, Bowel Symptoms, Aged, Menarche, Sweden, Science & Technology, Hepatology, Gastroenterology & Hepatology, business.industry, GENDER-RELATED DIFFERENCES, COLONIC TRANSIT, Prevention, Human Genome, Neurosciences, Genetic Variation, medicine.disease, FUNCTIONAL GI DISORDERS, United States, 030104 developmental biology, CHANNELOPATHIES, Self Report, business, Digestive Diseases, Genome-Wide Association Study

وصف الملف: application/pdf; Print-Electronic; STAMPA

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::094a0c40a4bd743e184799dd00d52791Test
https://escholarship.org/uc/item/625706n2Test

7

Longitudinal Assessment of Transorbital Sonography, Visual Acuity, and Biomarkers for Inflammation and Axonal Injury in Optic Neuritis

المؤلفون: Nausicaa Clemente, Andrea Naldi, Antonio Siniscalchi, Martin Lesmeister, Klaus Fassbender, Cristoforo Comi, Roberto Cantello, Piergiorgio Lochner, Lorenzo Coppo, Raffaele Nardone, Francesco Brigo

المصدر: Disease Markers
Disease Markers, Vol 2017 (2017)

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, medicine.medical_specialty, Optic nerve sheath, Visual acuity, optic neuritis, visual acuity: transorbital sonography, assessment, optic nerve, sheath diameter, Optic Neuritis, business.operation, Article Subject, assessment, Clinical Biochemistry, Visual Acuity, Inflammation, 03 medical and health sciences, 0302 clinical medicine, Interquartile range, Neurofilament Proteins, Ophthalmology, Genetics, medicine, Humans, Optic neuritis, Molecular Biology, Ultrasonography, lcsh:R5-920, business.industry, Biochemistry (medical), Optic Nerve, General Medicine, medicine.disease, 030104 developmental biology, Case-Control Studies, Optic nerve, Biomarker (medicine), Female, Osteopontin, medicine.symptom, business, lcsh:Medicine (General), Transorbital, 030217 neurology & neurosurgery, Biomarkers, Research Article

وصف الملف: text/xhtml

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::efdb8194d2a3a4a3a24a5e5556926941Test
https://pubmed.ncbi.nlm.nih.gov/29085182Test

8

Another patient with 12q13 microduplication

المؤلفون: C. Palmieri, Anna Maria Nardone, Stefania Zampatti, Francesca Gullotta, M.R. Abate, Marina Frontali, Antonio Novelli, Viola Alesi, Marta Bertoli

المصدر: American journal of medical genetics. Part A 161 (2013): 2004–2008. doi:10.1002/ajmg.a.35991
info:cnr-pdr/source/autori:Bertoli M.; Alesi V.; Gullotta F.; Zampatti S.; Abate M.R.; Palmieri C.; Novelli A.; Frontali M.; Nardone A.M./titolo:Another patient with 12q13 microduplication/doi:10.1002%2Fajmg.a.35991/rivista:American journal of medical genetics. Part A/anno:2013/pagina_da:2004/pagina_a:2008/intervallo_pagine:2004–2008/volume:161

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eff38363dcbb49e786551132b837614fTest
https://doi.org/10.1002/ajmg.a.35991Test

9

NEW INSIGHTS IN OROFACIAL CLEFT: EPIDEMIOLOGICAL AND GENETIC STUDIES ON ITALIAN SAMPLES

المؤلفون: A Palmieri, A Tagliabue, M Nardone, L Tettamanti, Anna Avantaggiato

المساهمون: Tettamanti, L., Avantaggiato, A., Nardone, M., Palmieri, A., Tagliabue, Angelo

المصدر: Oral & Implantology. 10:11

وصف الملف: STAMPA

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::02f7984370d214cff03be987ca8763ecTest
https://doi.org/10.11138/orl/2017.10.1.011Test

10

Plasmodium Infection Is Associated with Impaired Hepatic Dimethylarginine Dimethylaminohydrolase Activity and Disruption of Nitric Oxide Synthase Inhibitor/Substrate Homeostasis

المؤلفون: Climent Casals-Pascual, Allison K. Ikeda, Simon Correa, Glenn Nardone, Hans Ackerman, Shamanthi Jayasooriya, David J. Conway, Aubrey J. Cunnington, Oliver Billker, Matthew S. Alkaitis, Madi Njie, Augustine O. Ebonyi, Jessica H. Chertow, Joseph Okebe, Michael Walther

المساهمون: Universitat de Barcelona

المصدر: PLoS Pathogens, Vol 11, Iss 9, p e1005119 (2015)
Dipòsit Digital de la UB
Universidad de Barcelona
Recercat. Dipósit de la Recerca de Catalunya
instname
PLoS Pathogens

مصطلحات موضوعية: Arginine, Cell- och molekylärbiologi, Homeòstasi, 030204 cardiovascular system & hematology, Blood plasma, Pathogenesis, Mice, chemistry.chemical_compound, 0302 clinical medicine, Homeostasis, Biology (General), 0303 health sciences, 3. Good health, Nitric oxide synthase, medicine.anatomical_structure, Liver, Gambia, Arginine homeostasis, Research Article, medicine.medical_specialty, Endothelium, QH301-705.5, Immunology, Malària, Biology, Nitric Oxide, Microbiology, Amidohydrolases, Nitric oxide, 03 medical and health sciences, Virology, Internal medicine, parasitic diseases, Genetics, medicine, Animals, Humans, Plasmodium berghei, Molecular Biology, 030304 developmental biology, Plasma sanguini, RC581-607, biology.organism_classification, Malaria, Disease Models, Animal, Endocrinology, chemistry, Case-Control Studies, biology.protein, Parasitology, Endothelium, Vascular, Immunologic diseases. Allergy, Asymmetric dimethylarginine, Cell and Molecular Biology

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0a39718ec74c751dd637b5f831618568Test
https://doaj.org/article/6df109d8e2704dc1834e0a80da25a24bTest

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