المؤلفون: Mondéjar, Rufino, Solano Manchego, Francisca, Rubio, Rocío, Delgado, Mercedes, Pérez Sempere, Ángel, González Meneses, Antonio, Vendrell, Teresa, Izquierdo Ayuso, Guillermo, Martínez Mir, Amalia, Lucas Lucas, Miguel

المساهمون: Universidad de Sevilla. Departamento de Medicina, Universidad de Sevilla. CTS399: Neuromedicina Molecular

مصطلحات موضوعية: Adolescent, Adult, Aged, 80 and over, Apoptosis Regulatory Proteins / genetics, Base Sequence, Carrier Proteins / genetics, Child, Codon, Nonsense, DNA Mutational Analysis, Gene Frequency, Hemangioma, Cavernous, Central Nervous System, KRIT1 Protein, Membrane Proteins / genetics, Microtubule-Associated Proteins / genetics, Polymorphism, Single Nucleotide, Prevalence, Proto-Oncogene Proteins / genetics, Sequence Deletion, Young Adult

العلاقة: https://idus.us.es/handle//11441/129439Test

الإتاحة: https://idus.us.es/handle//11441/129439Test

المساهمون: College of Medicine, Dept. of Anatomy, Borum Sagong, Jeong-In Baek, Jinwoong Bok, Kyu-Yup Lee, Un-Kyung Kim, Bok, Jin Woong

مصطلحات موضوعية: Adolescent, Asian Continental Ancestry Group/genetics, Codon, Nonsense, Computational Biology, DNA Mutational Analysis, Female, Hearing Loss, Sensorineural/genetics, High-Throughput Nucleotide Sequencing, Homozygote, Humans, Male, Membrane Proteins/genetics, Pedigree, Pseudogenes/genetics, Republic of Korea, DFNB16, STRC, Stereocilin, Targeted sequencing

وصف الملف: 78~81

العلاقة: INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY; J01148; OAK-2016-03137; https://ir.ymlib.yonsei.ac.kr/handle/22282913/147089Test; http://www.sciencedirect.com/science/article/pii/S0165587615005984Test; T201602071; INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY, Vol.80 : 78-81, 2016

الإتاحة: https://doi.org/10.1016/j.ijporl.2015.11.018Test
https://ir.ymlib.yonsei.ac.kr/handle/22282913/147089Test
http://www.sciencedirect.com/science/article/pii/S0165587615005984Test

المساهمون: Ha Young Shin, Hoon Jang, Joo Hyung Han, Hyung Jun Park, Jung Hwan Lee, So Won Kim, Seung Min Kim, Young-Eun Park, Dae-Seong Kim, Duhee Bang, Min Goo Lee, Ji Hyun Lee, Young-Chul Choi, Kim, Seung Min, Shin, Ha Young, Lee, Min Goo, Lee, Jung Hwan, Lee, Ji Hyun, Choi, Young Chul

مصطلحات موضوعية: Adolescent, Adult, Child, DNA Mutational Analysis, Dysferlin, Female, High-Throughput Nucleotide Sequencing, Humans, Male, Membrane Proteins/genetics, Muscle Proteins/genetics, Muscular Dystrophies, Limb-Girdle/diagnosis, Limb-Girdle/genetics, Young Adult, DYSF, Dysferlinopathy, Hybridization capture, Mutation, Next-generation sequencing

وصف الملف: 502~510

العلاقة: NEUROMUSCULAR DISORDERS; J02344; OAK-2015-00991; https://ir.ymlib.yonsei.ac.kr/handle/22282913/140151Test; http://www.sciencedirect.com/science/article/pii/S0960896615001005Test; T201501491; NEUROMUSCULAR DISORDERS, Vol.25(6) : 502-510, 2015

الإتاحة: https://doi.org/10.1016/j.nmd.2015.03.006Test
https://ir.ymlib.yonsei.ac.kr/handle/22282913/140151Test
http://www.sciencedirect.com/science/article/pii/S0960896615001005Test

المؤلفون: Teresa Vendrell, Guillermo Izquierdo, Francisca Solano, Rufino Mondejar, Antonio González-Meneses, Amalia Martinez-Mir, Miguel Lucas, Mercedes Delgado, Rocio Rubio, Ángel Pérez-Sempere

المساهمون: Universidad de Sevilla. Departamento de Medicina, Universidad de Sevilla. CTS399: Neuromedicina Molecular, Instituto de Salud Carlos III, Junta de Andalucía, Fundación José Luis Castaño, [Mondéjar,R, Solano,F, Rubio,R, Delgado,M, Lucas,M] Servicio de Biología Molecular, Hospital Universitario Virgen Macarena, Facultad de Medicina, Sevilla, Spain. [Pérez-Sempere,A] Servicio de Neurología, Hospital Universitario de Alicante, Alicante, Spain. [González-Meneses,A] Unidad de Dismorfología, Hospital Universitario Virgen del Rocío, Sevilla, Spain. [Vendrell,T] Unidad de Genética, Hospital Universitario Vall d'Hebron, Barcelona, Spain.[Izquierdo,G] Servicio de Neurología, Hospital Universitario Virgen Macarena, Facultad de Medicina, Sevilla, Spain. [Izquierdo,G] Servicio de Neurología, Hospital Universitario Virgen Macarena, Facultad de Medicina, Sevilla, Spain. [Martinez-Mir,A] Instituto de Biomedicina de Sevilla (IBiS)/Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Sevilla, Spain., This work has been supported by grants CP10/00526 (Instituto de Salud Carlos III, Spain) and P07-CVI-02790 (Junta de Andalucía, Spain) and José Luis Castaño Foundation.

المصدر: PLoS ONE
PLoS ONE, Vol 9, Iss 1, p e86286 (2014)
idUS. Depósito de Investigación de la Universidad de Sevilla
instname
Digital.CSIC. Repositorio Institucional del CSIC

مصطلحات موضوعية: Hemangioma, Cavernous, Central Nervous System, Epidemiology, DNA Mutational Analysis, Named Groups::Persons::Age Groups::Adult::Aged::Aged, 80 and over [Medical Subject Headings], lcsh:Medicine, Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Peptides::Intracellular Signaling Peptides and Proteins::Apoptosis Regulatory Proteins [Medical Subject Headings], Named Groups::Persons::Age Groups::Adult::Middle Aged [Medical Subject Headings], Chemicals and Drugs::Nucleic Acids, Nucleotides, and Nucleosides::Nucleic Acids::RNA::RNA, Messenger::Codon::Codon, Terminator::Codon, Nonsense [Medical Subject Headings], Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans [Medical Subject Headings], Diseases::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Congenital Abnormalities::Nervous System Malformations::Central Nervous System Vascular Malformations::Hemangioma, Cavernous, Central Nervous System [Medical Subject Headings], Gene Frequency, Hemangioma cavernoso del sistema nervioso central, Prevalence, Proto-Oncogene Proteins, Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Genetic Techniques::Sequence Analysis::Sequence Analysis, DNA::DNA Mutational Analysis [Medical Subject Headings], Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Epidemiologic Methods::Data Collection::Vital Statistics::Morbidity::Prevalence [Medical Subject Headings], lcsh:Science, Child, KRIT1 Protein, Sequence Deletion, Geographicals::Geographic Locations::Europe::Spain [Medical Subject Headings], Genetics, Aged, 80 and over, Multidisciplinary, Genomics, Middle Aged, Neurology, Codon, Nonsense, Named Groups::Persons::Age Groups::Adolescent [Medical Subject Headings], Genetic Epidemiology, Medicine, Microtubule-Associated Proteins / genetics, Microtubule-Associated Proteins, Carrier Proteins / genetics, Research Article, Adult, medicine.medical_specialty, Named Groups::Persons::Age Groups::Adult::Young Adult [Medical Subject Headings], Adolescent, Proteínas transportadoras, Genetic Counseling, Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Proteins::Carrier Proteins [Medical Subject Headings], Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Proteins::Membrane Proteins [Medical Subject Headings], Biology, Apoptosis Regulatory Proteins, Polymorphism, Single Nucleotide, Proteínas protooncogénicas, Molecular Genetics, Young Adult, Genomic Medicine, Genetic Mutation, Análisis de mutaciones del ADN, Named Groups::Persons::Age Groups::Adult [Medical Subject Headings], medicine, Humans, Base sequence, Mutation detection, Secuencia de bases, Proto-Oncogene Proteins / genetics, Named Groups::Persons::Age Groups::Adult::Aged [Medical Subject Headings], Named Groups::Persons::Age Groups::Child [Medical Subject Headings], Aged, Gynecology, Clinical Genetics, Membrane Proteins / genetics, Phenomena and Processes::Genetic Phenomena::Genetic Variation::Polymorphism, Genetic::Polymorphism, Single Nucleotide [Medical Subject Headings], Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Proteins::Neoplasm Proteins::Oncogene Proteins::Proto-Oncogene Proteins [Medical Subject Headings], Population Biology, Apoptosis Regulatory Proteins / genetics, Base Sequence, Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Proteins::Cytoskeletal Proteins::Microtubule Proteins::Microtubule-Associated Proteins [Medical Subject Headings], lcsh:R, Membrane Proteins, Human Genetics, Proteínas reguladoras de la apoptosis, Phenomena and Processes::Chemical Phenomena::Biochemical Phenomena::Molecular Structure::Base Sequence [Medical Subject Headings], Carrier protein, Spain, Deletion mutation, Genetics of Disease, Phenomena and Processes::Genetic Phenomena::Genetic Processes::Mutagenesis::Sequence Deletion [Medical Subject Headings], lcsh:Q, Phenomena and Processes::Genetic Phenomena::Gene Frequency [Medical Subject Headings], Carrier Proteins

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8af79184cfa290bd57fe86619ccebeceTest

المؤلفون: Becker, Felicitas, Schubert, Julian, Robbiano, Angela, Polvi, Anne, Zittel, Simone, von Oertzen, Tim J, Rostasy, Kevin, Schöls, Ludger, Warner, Tom, Münchau, Alexander, Lehesjoki, Anna-Elina, Zara, Federico, Striano, Pasquale, Lerche, Holger, Weber, Yvonne G, Anttonen, Anna-Kaisa, Liukkonen, Elina, Gaily, Eija, Gerloff, Christian, Müller, Stephan, Heußinger, Nicole, Kellinghaus, Christoph

المصدر: Journal of neurology 260(5), 1234-1244 (2013). doi:10.1007/s00415-012-6777-y

مصطلحات موضوعية: info:eu-repo/classification/ddc/610, Adolescent, Child, Preschool, Chorea: complications, Chorea: genetics, DNA Mutational Analysis, Dystonia, Epilepsy, Benign Neonatal: complications, Benign Neonatal: genetics, Family Health, Female, Humans, Infant, Male, Membrane Proteins: genetics, Mutation: genetics, Nerve Tissue Proteins: genetics, Phenotype, Young Adult, Membrane Proteins, Nerve Tissue Proteins, PRRT2 protein, human

جغرافية الموضوع: DE

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/pmid:23299620; info:eu-repo/semantics/altIdentifier/issn/0939-1517; info:eu-repo/semantics/altIdentifier/issn/1432-1459; info:eu-repo/semantics/altIdentifier/issn/0340-5354; info:eu-repo/semantics/altIdentifier/issn/1619-800X; info:eu-repo/semantics/altIdentifier/issn/0012-1037; https://pub.dzne.de/record/136900Test; https://pub.dzne.de/search?p=id:%22DZNE-2020-03222%22Test

الإتاحة: https://doi.org/10.1007/s00415-012-6777-yTest
https://pub.dzne.de/record/136900Test
https://pub.dzne.de/search?p=id:%22DZNE-2020-03222%22Test

المؤلفون: Smeesters, Pierre, Vergison, Anne, Junior, Dioclécio Campos, Van Melderen, Laurence

المصدر: International journal of antimicrobial agents, 34 (1

مصطلحات موضوعية: Sciences bio-médicales et agricoles, Adolescent, Anti-Bacterial Agents -- pharmacology, Antigens, Bacterial -- genetics, Bacterial Outer Membrane Proteins -- genetics, Bacterial Proteins -- genetics, Bacterial Typing Techniques, Belgium, Brazil, Carrier Proteins -- genetics, Child, Preschool, DNA Gyrase -- genetics, DNA Mutational Analysis, DNA Topoisomerase IV -- genetics, Drug Resistance, Bacterial, Fluoroquinolones -- pharmacology, Genotype, Humans, Infant, Newborn, Molecular Epidemiology, Molecular Sequence Data, Mutation, Missense, Phylogeny, Streptococcal Infections -- microbiology, Streptococcus pyogenes -- drug effects

وصف الملف: 1 full-text file(s): application/pdf

العلاقة: uri/info:doi/10.1016/j.ijantimicag.2009.01.012; uri/info:pii/S0924-8579(09)00058-2; uri/info:pmid/19269141; uri/info:scp/67349252433; https://dipot.ulb.ac.be/dspace/bitstream/2013/51685/1/Elsevier_26803.pdfTest; http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/51685Test

الإتاحة: http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/51685Test
https://dipot.ulb.ac.be/dspace/bitstream/2013/51685/1/Elsevier_26803.pdfTest

المؤلفون: Gallardo, Eduard, de Luna Salva, Noemí, Diaz-Manera, Jordi, Rojas-Garcia, Ricard, Gonzalez-Quereda, L., Flix, Bàrbara, de Morrée, Antoine, van der Maarel, Silvère, Illa, Isabel, Universitat Autònoma de Barcelona

المصدر: PLoS ONE
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
PLoS ONE, 6(12)
PLoS One
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
PLoS ONE, Vol 6, Iss 12, p e29061 (2011)
Gallardo, E, de Luna, N, Diaz-Manera, J, Rojas-García, R, Gonzalez-Quereda, L, Flix, B, de Morrée, A, van der Maarel, S & Illa, I 2011, ' Comparison of dysferlin expression in human skeletal muscle with that in monocytes for the diagnosis of dysferlin myopathy ', PLOS ONE, vol. 6, no. 12, pp. e29061 . https://doi.org/10.1371/journal.pone.0029061Test

مصطلحات موضوعية: Male, Pathology, Anatomy and Physiology, dysferlin myopathy, Biopsy, DNA Mutational Analysis, Lipopolysaccharide Receptors, Muscle Proteins, DYSF protein, human, Protein Synthesis, medicine.disease_cause, preschool child, Biochemistry, Muscular Dystrophies, Monocytes, Western blotting, Dysferlin, Monocytes/metabolism, membrane protein, genetics, gene mutation, Musculoskeletal System, comparative study, limb girdle muscular dystrophy, Muscle Proteins/genetics, Mutation, child, clinical article, Multidisciplinary, biology, medicine.diagnostic_test, adult, article, Neuromuscular Diseases, dysferlinopathy, aged, medicine.anatomical_structure, female, Neurology, immunohistochemistry, monocyte, Blood Chemistry, Lipopolysaccharide Receptors/metabolism, Immunohistochemistry, Muscle, Medicine, Female, dysferlin gene, medicine.symptom, muscle biopsy, myopathy, Research Article, mutational analysis, Adult, Dysferlinopathy, medicine.medical_specialty, Mutation/genetics, Science, Muscular Dystrophies, Limb-Girdle/diagnosis, muscle protein, Antigens, CD14, medicine, Humans, controlled study, human, Membrane Proteins/genetics, skeletal muscle, Myopathy, gene, Muscle, Skeletal, protein expression, Biology, Muscle, Skeletal/metabolism, Muscle biopsy, Plasma Proteins, human cell, solubility, Skeletal muscle, Proteins, Membrane Proteins, nucleotide sequence, CD14 antigen, medicine.disease, human tissue, dysferlin, Muscular Dystrophies, Limb-Girdle, Solubility, adolescent, biology.protein, gene expression, pathology, metabolism

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49021bb466532c6b22e57fd3201a9de0Test
http://europepmc.org/articles/PMC3241698Test