نتائج البحث - "Alessandra Murgia"

1

Frequency of Usher gene mutations in non-syndromic hearing loss: higher variability of the Usher phenotype

المؤلفون: Rosamaria Santarelli, A. Sensi, Elona Cama, Pietro Scimemi, Maria Cristina Aspromonte, Elisa Bettella, Federica Cesca, Roberta Polli, Stefania Bigoni, Andrea Ciorba, Franco Stanzial, Barbara Sicilian, Emanuela Leonardi, Alessandra Murgia, Francesco Benedicenti

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Adolescent, Hearing loss, Usher syndrome, Hearing Loss, Sensorineural, Cadherin Related Proteins, 030105 genetics & heredity, Gene mutation, Biology, Deafness, Sensorineural, 03 medical and health sciences, Young Adult, Genetic Heterogeneity, otorhinolaryngologic diseases, Genetics, medicine, Connexin 30, Humans, Child, Preschool, Hearing Loss, Gene, Genetics (clinical), Genetic Association Studies, Genetic heterogeneity, High-Throughput Nucleotide Sequencing, medicine.disease, Cadherins, Phenotype, Connexin 26, 030104 developmental biology, Child, Preschool, Mutation, biology.protein, Sensorineural hearing loss, Female, Usher Syndromes, medicine.symptom, GJB6

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9cf17a04343cb36b875fc056a9c670e3Test
http://hdl.handle.net/11577/3342974Test

2

Spectrum and Frequency of SLC26A4 Mutations Among Czech Patients with Early Hearing Loss with and without Enlarged Vestibular Aqueduct (EVA)

المؤلفون: Petr Janoušek, Marcela Malíková, Radka Kremlikova Pourova, O. Bendová, Emanuela Leonardi, Alessandra Murgia, Michal Jurovčík, Dagmar Rašková, Marcela Dvoráková, Pavel Seeman, Zdenek Kabelka, Jaromír Astl

المصدر: Annals of Human Genetics. 74:299-307

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::5b7277332dc29e24b4152579691c8207Test
https://doi.org/10.1111/j.1469-1809.2010.00581.xTest

3

A novel DFNB1 deletion allele supports the existence of a distant cis-regulatory region that controls GJB2 and GJB6 expression

المساهمون: Michigan State University [East Lansing], Michigan State University System, University of Iowa [Iowa City], University of Padua [Italy], Freiburg University Medical Center, Institute of Human Genetics [Cologne], University of Cologne-Universitätsklinikum Köln (Uniklinik Köln), Centro de Biologia Molecular e Engenharia Genética (CBMEG), Universidade Estadual de Campinas (UNICAMP), Radboud University Medical Center [Nijmegen], Institute of Human Genetics, Universität Ulm - Ulm University [Ulm, Allemagne], Génétique, génomique fonctionnelle et biotechnologies (UMR 1078) (GGB), Institut Brestois Santé Agro Matière (IBSAM), Université de Brest (UBO)-Université de Brest (UBO)-EFS-Institut National de la Santé et de la Recherche Médicale (INSERM), Université européenne de Bretagne - European University of Brittany (UEB), Laboratoire de Génétique Moléculaire et d'Histocompatibilité [Brest], Hôpital Morvan [Brest]-Centre Hospitalier Régional Universitaire de Brest (CHRU Brest), Immunologie et Pathologie (EA2216), Université de Brest (UBO)-IFR148, Department of Biomedical Sciences, Department of Medical genetics, University of Antwerp (UA), This work was supported by NIDCD grant DC004568 to K. H. F., an MSU Foundation grant to R. A. F. and a Families and Communities Together Coalition grant to J. E. R. J. H. S is the Sterba Hearing Research Professor at University of Iowa College of Medicine, who supported the project in part with National Institutes of Health (NIH)–National Institute on Deafness and Other Communication Disorders (NIDCD) grant DC02842., We are grateful to the many MSU‐DF5 family members for their participation. E. W. thanks Dr Patrick J. Venta for critical reading of the manuscript.

المصدر: Clinical Genetics, 78, 267-74
Clinical Genetics, 78, 3, pp. 267-74
Clinical genetics
Clinical Genetics
Clinical Genetics, Wiley, 2010, 78 (3), pp.267-274. ⟨10.1111/j.1399-0004.2010.01387.x⟩

مصطلحات موضوعية: Male, Genetics and epigenetic pathways of disease [NCMLS 6], [SDV]Life Sciences [q-bio], Penetrance, MESH: Base Sequence, Regulatory Sequences, Nucleic Acid, sensorineural hearing loss, Connexins, MESH: Genotype, MESH: Hearing Loss, Sensorineural/diagnosis, MESH: Penetrance, Genotype, Copy-number variation, Genetics (clinical), Sequence Deletion, Genetics, Comparative Genomic Hybridization, 0303 health sciences, MESH: Genetic Testing, MESH: Gene Expression Regulation, 030305 genetics & heredity, GJB2, Pedigree, Connexin 26, MESH: Sequence Deletion, MESH: Hearing Loss, Sensorineural/genetics, Female, Chromosome Deletion, Functional Neurogenomics [DCN 2], GJB6, MESH: Pedigree, MESH: Chromosome Deletion, Hearing Loss, Sensorineural, Molecular Sequence Data, connexin 26,connexin 30,DFNB1,gene expression regulation,GJB2,GJB6,sensorineural hearing loss,sequence deletion, Biology, MESH: Connexin 30, MESH: Connexins/genetics, MESH: Sequence Homology, Nucleic Acid, Article, Genomic disorders and inherited multi-system disorders [IGMD 3], 03 medical and health sciences, Monoallelic Mutation, MESH: Connexin 26, Sequence Homology, Nucleic Acid, Connexin 30, otorhinolaryngologic diseases, Humans, Genetic Testing, Allele, Gene, MESH: Regulatory Sequences, Nucleic Acid/genetics, Alleles, DFNB1, 030304 developmental biology, Family Health, MESH: Humans, MESH: Molecular Sequence Data, Base Sequence, Chromosomes, Human, Pair 13, MESH: Alleles, Breakpoint, MESH: Male, MESH: Comparative Genomic Hybridization, Gene Expression Regulation, MESH: Family Health, biology.protein, Human medicine, MESH: Chromosomes, Human, Pair 13/genetics, MESH: Female

وصف الملف: application/pdf; pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d81a22f13f414b1582a35773d0e8a9c0Test
https://doi.org/10.1111/j.1399-0004.2010.01387.xTest

4

A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment

المصدر: Journal of medical genetics

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::53b72c275793b87a9ba255fe3013e8f7Test
https://doi.org/10.1136/jmg.2004.028324Test

5

Connexin 26 preverbal hearing impairment: Mutation prevalence and heterozygosity in a selected population: Problemas auditivos preverbales por Conexina 26: Prevalencia de mutacion y heterocigosidad en una población seleccionada

المؤلفون: Eva Orzan, Alberto Mazza, Alessandra Murgia, Franco Zacchello, Gregorio Babighian, Roberta Polli, Maddalena Martella

المصدر: International Journal of Audiology. 41:120-124

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::dfbeccdf1b745088d79d6df91a42c192Test
https://doi.org/10.3109/14992020209090402Test

6

Connexin26 deafness is not always congenital

المؤلفون: Eva Orzan, Alessandra Murgia

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6293b538b7c826c3f132f063f289948cTest
http://hdl.handle.net/11577/1774764Test

7

GJB2 mutations and degree of hearing loss: a multicenter study

المؤلفون: Pascale Hilbert, Carla Nishimura, Patrick L. M. Huygen, Francesca Gualandi, Eva Orzan, Jaroslaw Waligora, István Sziklai, Anne Françoise Roux, Delphine Feldmann, Edward S. Cohn, Felipe Moreno, Rafał Płoski, Heidi L. Rehm, Philip M. Kelley, Doris Nekahm-Heis, Kim Cryns, Sandrine Marlin, Pierangela Castorina, Nikolaus Blin, Cor W. R. J. Cremers, Alessandro Martini, Geneviève Lina-Granade, Deirdre Lucas, Paul Van de Heyning, Hans Henrik M. Dahl, Margaret A. Kenna, Françoise Denoyelle, Desirée du Sart, Nele Hilgert, Markus Pfister, Maria Bitner-Glindzicz, Lucy Jenkins, Lies H. Hoefsloot, Armagan Incesulu, Heikki Löppönen, Iris Schrijver, Tuija Löppönen, Rikkert L. Snoeckx, Umberto Ambrosetti, Céu Correia, Małgorzata Mueller-Malesińska, Lionel Van Maldergem, O. Bendová, Graça Fialho, Ignacio del Castillo, Tímea Tóth, Nathalie Pallares-Ruiz, Jerzy Bal, Agnete Parving, Joseph B. Roberson, Wojciech Wiszniewski, Karen B. Avraham, Ewa Nowakowska-Szyrwinska, Guy Van Camp, Alessandra Murgia, Richard J.H. Smith, Agneszka Pollak, Anna Frangulov, Michel Mondain, Pavel Seeman, Andreas R. Janecke, Karen Grønskov, Zippora Brownstein, Mustafa Tekin

المصدر: American Journal of Human Genetics, 77, 945-57
American Journal of Human Genetics, 77, 6, pp. 945-57
The American journal of human genetics

مصطلحات موضوعية: Male, DNA Mutational Analysis, Compound heterozygosity, Gastroenterology, Severity of Illness Index, Connexins, 0302 clinical medicine, Gene Frequency, Genotype, Perception and Action [DCN 1], Neurosensory disorders [UMCN 3.3], Multicenter Studies as Topic, Genetics(clinical), 030223 otorhinolaryngology, Child, Genetics (clinical), Genetics, 0303 health sciences, medicine.diagnostic_test, biology, Homozygote, Articles, Middle Aged, 3. Good health, Connexin 26, Child, Preschool, Female, medicine.symptom, Functional Neurogenomics [DCN 2], GJB6, Adult, medicine.medical_specialty, Heterozygote, Adolescent, Hearing loss, Genes, Recessive, Genomic disorders and inherited multi-system disorders [IGMD 3], 03 medical and health sciences, Audiometry, Internal medicine, medicine, otorhinolaryngologic diseases, Humans, Allele, Hearing Loss, Allele frequency, Alleles, 030304 developmental biology, Aged, Retrospective Studies, business.industry, Genetic heterogeneity, Infant, Newborn, Infant, Cross-Sectional Studies, Mutation, biology.protein, Linear Models, business