نتائج البحث - "Nardone A."

1

Molecular analysis using DHPLC of cystic fibrosis: increase of the mutation detection rate among the affected population in Central Italy

المؤلفون: Stefano Gambardella, Anna Maria Nardone, Maria Rosaria D'Apice, Giuseppe Novelli, Federica Sangiuolo, Silvia Russo, Mario Bengala, Vincenzina Lucidi

المصدر: BMC Medical Genetics, Vol 5, Iss 1, p 8 (2004)
BMC Medical Genetics

مصطلحات موضوعية: DNA Mutational Analysis, Cystic Fibrosis Transmembrane Conductance Regulator, Nucleic Acid Denaturation, Cystic fibrosis, Male infertility, Cohort Studies, Exon, Leukocytes, Missense mutation, Genetics(clinical), CFTR mutation screening, Polymorphism, Genetic, Exons, Humans, Child, Mutation, Missense, Chromatography, High Pressure Liquid, Italy, Genetic Testing, Cystic Fibrosis, DNA, Introns, Mutation, 5' Untranslated Regions, Sequence Deletion, Genetics (clinical), Genetics, education.field_of_study, Chromatography, Technical Advance, High Pressure Liquid, Allelic heterogeneity, lcsh:Internal medicine, lcsh:QH426-470, Genetic counseling, Population, Biology, Genetic, DHPLC, medicine, Polymorphism, education, lcsh:RC31-1245, medicine.disease, Human genetics, lcsh:Genetics, Settore MED/03 - Genetica Medica, Missense

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::648949dbdfe2b4e277a7068dd796e98bTest
http://www.biomedcentral.com/1471-2350/5/8Test

2

In vitrocorrection of cystic fibrosis epithelial cell lines by small fragment homologous replacement (SFHR) technique

المؤلفون: Dieter C. Gruenert, Monica Lais, Emanuela Bonifazi, Anna Maria Nardone, Annalucia Serafino, Federica Sangiuolo, Emanuela M. Bruscia, Giuseppe Novelli

المصدر: BMC Medical Genetics
BMC medical genetics (Online) 3 (2002): 1–12.
info:cnr-pdr/source/autori:Sangiuolo F., Bruscia E., Serafino A., Nardone A.M., Bonifazi E., Lais M., Gruenert D.C., Novelli G./titolo:In vitro correction of cystic fibrosis epithelial cell lines by small fragment homologous replacement (SFHR) technique./doi:/rivista:BMC medical genetics (Online)/anno:2002/pagina_da:1/pagina_a:12/intervallo_pagine:1–12/volume:3
BMC Medical Genetics, Vol 3, Iss 1, p 8 (2002)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5bcd7c8f7c3debfdcbbf1cd5e7735ee2Test
https://doi.org/10.1186/1471-2350-3-8Test

3

دورية أكاديمية

Deletion of REXO1L1 locus in a patient with malabsorption syndrome, growth retardation, and dysmorphic features: a novel recognizable microdeletion syndrome?

المؤلفون: D'Apice, Maria Rosaria, Novelli, Antonio, di Masi, Alessandra, Biancolella, Michela, Antoccia, Antonio, Gullotta, Francesca, Licata, Norma, Minella, Daniela, Testa, Barbara, Nardone, Anna Maria, Palmieri, Giampiero, Calabrese, Emma, Biancone, Livia, Tanzarella, Caterina, Frontali, Marina, Sangiuolo, Federica, Novelli, Giuseppe, Pallone, Francesco

المصدر: BMC Medical Genetics; 2015, Vol. 16 Issue 1, p1-10, 10p

مصطلحات موضوعية: MALABSORPTION syndromes, MEDICAL genetics, DWARFISM, BODY dysmorphic disorder, DELETION mutation, GENETICS

النص الكامل

4

دورية أكاديمية

Molecular analysis using DHPLC of cystic fibrosis: increase of the mutation detection rate among the affected population in Central Italy.

المؤلفون: D'Apice, Maria Rosaria, Gambardella, Stefano, Bengala, Mario, Russo, Silvia, Nardone, Anna Maria, Lucidi, Vincenzina, Sangiuolo, Federica, Novelli, Giuseppe

المصدر: BMC Medical Genetics; 2004, Vol. 5, p8-7, 7p, 3 Charts

مصطلحات موضوعية: CYSTIC fibrosis, GENETIC mutation, CELL membranes, SYMPTOMS, MEDICAL care

النص الكامل

5

دورية أكاديمية

In vitro correction of cystic fibrosis epithelial cell lines by small fragment homologous replacement (SFHR) technique.

المؤلفون: Sangiuolo, Federica, Bruscia, Emanuela, Serafino, Annalucia, Nardone, Anna Maria, Bonifazi, Emanuela, Lais, Monica, Gruenert, Dieter C., Novelli, Giuseppe

المصدر: BMC Medical Genetics; 2002, Vol. 3, p1-12, 12p, 9 Diagrams, 1 Chart

مصطلحات موضوعية: CYSTIC fibrosis gene, EPITHELIAL cells, GENE targeting, DNA, GENE transfection, GENETIC transformation

النص الكامل

6

Deletion of REXO1L1 locus in a patient with malabsorption syndrome, growth retardation, and dysmorphic features: a novel recognizable microdeletion syndrome?

المؤلفون: Giampiero Palmieri, Anna Maria Nardone, Barbara Testa, D. Minella, Livia Biancone, Antonio Novelli, Francesco Pallone, Marina Frontali, Caterina Tanzarella, Michela Biancolella, Alessandra di Masi, Giuseppe Novelli, Emma Calabrese, Antonio Antoccia, Maria Rosaria D'Apice, Norma Licata, Federica Sangiuolo, Francesca Gullotta

المصدر: BMC medical genetics (Online) 16 (2015): 1. doi:10.1186/s12881-015-0164-3
info:cnr-pdr/source/autori:D'Apice M.R.; Novelli A.; di Masi A.; Biancolella M.; Antoccia A.; Gullotta F.; Licata N.; Minella D.; Testa B.; Nardone A.M.; Palmieri G.; Calabrese E.; Biancone L.; Tanzarella C.; Frontali M.; Sangiuolo F.; Novelli G.; Pallone F./titolo:Deletion of REXO1L1 locus in a patient with malabsorption syndrome, growth retardation, and dysmorphic features: A novel recognizable microdeletion syndrome?/doi:10.1186%2Fs12881-015-0164-3/rivista:BMC medical genetics (Online)/anno:2015/pagina_da:1/pagina_a:/intervallo_pagine:1/volume:16