نتائج البحث - "Nardone A."

1

Production and characterization of CSSI003 (2961) human induced pluripotent stem cells (iPSCs) carrying a novel puntiform mutation in RAI1 gene, Causative of Smith–Magenis syndrome

المؤلفون: Giuseppe Lamorte, Jessica Rosati, Daniela Ferrari, Laura Bernardini, Gianluigi Mazzoccoli, Matteo Della Monica, Angelo L. Vescovi, Antonella De Jaco, Elisa Maria Turco, Annamaria Nardone, Ersilia Vinci, Filomena Altieri, Barbara Torres

المساهمون: Altieri, F, Turco, E, Vinci, E, Torres, B, Ferrari, D, De Jaco, A, Mazzoccoli, G, Lamorte, G, Nardone, A, Della Monica, M, Bernardini, L, Vescovi, A, Rosati, J

المصدر: Stem Cell Research, Vol 28, Iss, Pp 153-156 (2018)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a085952af3911fae3616d629973c25dTest
https://doi.org/10.1016/j.scr.2018.02.016Test

2

Circulating tumor cell investigation in breast cancer patient-derived xenograft models by automated immunofluorescence staining, image acquisition, and single cell retrieval and analysis

المؤلفون: Chandandeep Nagi, Hariprasad Thangavel, Mario Giuliano, Lacey E. Dobrolecki, Agostina Nardone, Carmine De Angelis, Meghana V. Trivedi, Michael T. Lewis, Rachel Schiff, Jackie L. Stilwell, C. Kent Osborne, Debashish Sahay, Sina Hedayatpour, Raksha Bhat, Eric P. Kaldjian, Mothaffar F. Rimawi, Arturo Ramirez

المساهمون: Ramirez, A. B., Bhat, R., Sahay, D., De Angelis, C., Thangavel, H., Hedayatpour, S., Dobrolecki, L. E., Nardone, A., Giuliano, M., KHALIL RODRIGUEZ, Nagi, Rimawi, M., Osborne, C. K., Lewis, M. T., Stilwell, J. L., Kaldjian, E. P., Schiff, R., Trivedi, M. V.

المصدر: BMC Cancer
BMC Cancer, Vol 19, Iss 1, Pp 1-10 (2019)

مصطلحات موضوعية: 0301 basic medicine, Cancer Research, Cell Separation, Mice, SCID, Metastasis, Antineoplastic Agent, Mice, 0302 clinical medicine, Circulating tumor cell, Breast cancer, Single-cell analysis, Class I Phosphatidylinositol 3-Kinase, medicine.diagnostic_test, lcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogens, Neoplastic Cells, Circulating, 3. Good health, Patient-derived xenografts, Oncology, 030220 oncology & carcinogenesis, Single-cell analysi, Immunohistochemistry, Keratins, Female, Single-Cell Analysis, Breast Neoplasm, Research Article, Human, Class I Phosphatidylinositol 3-Kinases, Antineoplastic Agents, Breast Neoplasms, Immunofluorescence, lcsh:RC254-282, 03 medical and health sciences, Patient-derived xenograft, Cell Line, Tumor, Genetics, medicine, Biomarkers, Tumor, Animals, Humans, Chemotherapy, Cluster of differentiation, business.industry, Animal, Circulating tumor cells, Leukocyte Common Antigen, Sequence Analysis, DNA, medicine.disease, 030104 developmental biology, Keratin, Cancer cell, Mutation, Cancer research, Leukocyte Common Antigens, business, Neoplasm Transplantation

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::688296ce56fe9a1f54200af1da1bcffeTest
http://hdl.handle.net/11588/771300Test

3

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

4

First evidence of Smith-Magenis syndrome in mother and daughter due to a novel RAI mutation

المؤلفون: Maria Iascone, Diana Postorivo, Michele Pinelli, Maria Teresa Falco, Maria Elena Sana, Fabio Acquaviva, Anna Maria Nardone, Paolo Fontana, Matteo Della Monica, Fortunato Lonardo, Gioacchino Scarano

المصدر: American Journal of Medical Genetics Part A. 173:231-238

مصطلحات موضوعية: Adult, 0301 basic medicine, Offspring, Retinoic acid induced 1, media_common.quotation_subject, Genetic counseling, Mothers, 030105 genetics & heredity, Nuclear Family, Frameshift mutation, 03 medical and health sciences, Genetics, Humans, Medicine, Exome, Child, Genetic Association Studies, Genetics (clinical), Exome sequencing, media_common, Comparative Genomic Hybridization, Daughter, business.industry, Intracellular Signaling Peptides and Proteins, Genetic disorder, Facies, High-Throughput Nucleotide Sequencing, Reproducibility of Results, medicine.disease, Smith–Magenis syndrome, Pedigree, Repressor Proteins, Phenotype, 030104 developmental biology, Mutation, Female, Smith-Magenis Syndrome, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::92e4f7284b6b21ac2cb25ed2cda4a3d1Test
https://doi.org/10.1002/ajmg.a.37989Test

5

Mutations and sequence variants in GDF9, BMP15, and BMPR1B genes in Maremmana cattle breed with single and twin births

المؤلفون: Cinzia Marchitelli, Alessandro Nardone

المصدر: Rendiconti Lincei. 26:553-560

مصطلحات موضوعية: Genetics, endocrine system, Mutation, Maremmana, Bone morphogenetic protein 15, biology, Single-nucleotide polymorphism, Growth differentiation factor-9, biology.organism_classification, medicine.disease_cause, BMPR1B, medicine, General Earth and Planetary Sciences, Bone morphogenetic protein receptor, General Agricultural and Biological Sciences, Gene, General Environmental Science

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::e55a872d9d2597cb5dc81c3ad944b5f2Test
https://doi.org/10.1007/s12210-015-0418-1Test

6

MIB2variants altering NOTCH signalling result in left ventricle hypertrabeculation/non-compaction and are associated with Ménétrier-like gastropathy

المساهمون: Piccolo, Pasquale, Attanasio, Sergio, Secco, Ilaria, Sangermano, Riccardo, Strisciuglio, Caterina, Limongelli, Giuseppe, Miele, Erasmo, Mutarelli, Margherita, Banfi, Sandro, Nigro, Vincenzo, Pons, Tirso, Valencia, Alfonso, Zentilin, Lorena, Campione, Severo, Nardone, Gerardo, Lynnes, Ty C, Celestino-Soper, Patricia B S, Spoonamore, Katherine G, D'Armiento, Francesco P, Giacca, Mauro, Staiano, Annamaria, Vatta, Matteo, Collesi, Chiara, Brunetti-Pierri, Nicola, Lynnes, Ty C., Celestino Soper, Patricia B. S., Spoonamore, Katherine G., D'Armiento, Francesco P., Brunetti Pierri, Nicola, Celestino Soper, Patricia B. S

المصدر: Human Molecular Genetics. :ddw365

مصطلحات موضوعية: Male, 0301 basic medicine, Heart malformation, Ubiquitin-Protein Ligases, Mutation, Missense, Stomach Diseases, Notch signaling pathway, Biology, medicine.disease_cause, Ventricular Dysfunction, Left, 03 medical and health sciences, 0302 clinical medicine, Genetic, Molecular Biology, Genetics, Genetics (clinical), medicine, Animals, Humans, Missense mutation, Exome, Myocytes, Cardiac, HES1, Gastritis, Hypertrophic, Cells, Cultured, Exome sequencing, Mutation, Receptors, Notch, Ubiquitination, General Medicine, Pedigree, Rats, Phenotype, 030104 developmental biology, Animals, Newborn, Gene Expression Regulation, Case-Control Studies, Cancer research, Left ventricular noncompaction, Female, Cardiomyopathies, 030217 neurology & neurosurgery, Signal Transduction

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::595fdb5370ee2f673cb8217d853d3e03Test
https://doi.org/10.1093/hmg/ddw365Test

7

Use of RNA Fluorescence In Situ Hybridization in the Prenatal Molecular Diagnosis of Myotonic Dystrophy Type I

المؤلفون: Laura Vallo, Ercole Brunetti, Anna Maria Nardone, Raniero Iraci, Francesca Gullotta, Emanuela Bonifazi, Giuseppe Novelli, Annalisa Botta

المصدر: Clinical Chemistry. 52:319-322

مصطلحات موضوعية: Pathology, Clinical Biochemistry, medicine.disease_cause, Pregnancy, Prenatal Diagnosis, Myotonic Dystrophy, genetics, gene mutation, In Situ Hybridization, In Situ Hybridization, Fluorescence, Mutation, medicine.diagnostic_test, article, Genetic disorder, methodology, interphase, Protein-Serine-Threonine Kinases, trinucleotide, fetus, diagnostic procedure, Female, Chorionic Villi, musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, phenotype, prenatal development, Protein Serine-Threonine Kinases, Biology, Myotonic dystrophy, Fluorescence, Myotonin-Protein Kinase, autosomal dominant disorder, protein serine threonine kinase, medicine, Humans, controlled study, human, fluorescence in situ hybridization, Gene, myotonic dystrophy protein kinase, RNA, cell nucleus, chorion villus, human cell, myotonic dystrophy, prenatal diagnosis, trophoblast, female, metabolism, mutation, pregnancy, Cell Nucleus, Biochemistry (medical), Chromosome, medicine.disease, Myotonia, Settore MED/03 - Genetica Medica, Fluorescence in situ hybridization

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cacb77ca5d0edda85482f270465c46e5Test
https://doi.org/10.1373/clinchem.2005.056283Test

8

Alterations of nuclear envelope and chromatin organization in mandibuloacral dysplasia, a rare form of laminopathy

المؤلفون: Silvia Biocca, Patrizia Sabatelli, Marta Columbaro, Cristina Capanni, Giovanna Lattanzi, Elisabetta Mattioli, Francesca Gullotta, Nadir M. Maraldi, Ilaria Filesi, Giuseppe Novelli, Gioacchino Scarano, Maria Rosaria D'Apice, Anna Maria Nardone

المساهمون: Filesi I, Gullotta F, Lattanzi G, D'Apice MR, Capanni C, Nardone AM, Columbaro M, Scarano G, Mattioli E, Sabatelli P, Maraldi NM, Biocca S, Novelli G.

المصدر: Physiological genomics
23 (2005): 150–158.
info:cnr-pdr/source/autori:I. FILESI, F. GULLOTTA, G. LATTANZI, M.R. D'APICE, C. CAPANNI, A.M. NARDONE, M. COLUMBARO, G. SCARANO, E. MATTIOLI, P. SABATELLI, N.M. MARALDI, S. BIOCCA, G. NOVELLI,/titolo:Alterations of nuclear envelope and chromatin organization in mandibuloacral dysplasia, a rare form of laminopathy,/doi:/rivista:Physiological genomics (Print)/anno:2005/pagina_da:150/pagina_a:158/intervallo_pagine:150–158/volume:23

وصف الملف: STAMPA

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e47fc7a02d7654d54b03b364f51a13e7Test
http://www.cnr.it/prodotto/i/5270Test

9

Segregation analysis in cystic fibrosis at-risk family demonstrates that the M348K CFTR mutation is a rare innocuous polymorphism

المؤلفون: Stefano Gambardella, Silvia Russo, Maria Rosaria D'Apice, Adalgisa Pietropolli, Anna Maria Nardone, Vincenzina Lucidi, Giuseppe Novelli

المصدر: Prenatal Diagnosis. 24:981-983

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c4ea9bb14e85d52743b12a2734427250Test
https://doi.org/10.1002/pd.1058Test

10

Abstract P5-05-03: Clonal evolution of the HER2 L755S mutation leads to acquired HER-targeted therapy resistance that can be reversed by the irreversible HER1/2 inhibitor afatinib

المصدر: Cancer Research. 75:P5-05

مصطلحات موضوعية: clone (Java method), Genetics, Sanger sequencing, Cancer Research, education.field_of_study, Mutation, Afatinib, Population, Biology, Lapatinib, medicine.disease_cause, Molecular biology, symbols.namesake, Oncology, medicine, symbols, skin and connective tissue diseases, education, Exome, Exome sequencing, medicine.drug

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::1178c344ce16df2c5b17c90225af5b28Test
https://doi.org/10.1158/1538-7445.sabcs14-p5-05-03Test

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