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1دورية أكاديمية
المؤلفون: Laura Blasco-Pérez, Mar Costa-Roger, Jordi Leno-Colorado, Sara Bernal, Laura Alias, Marta Codina-Solà, Desirée Martínez-Cruz, Claudia Castiglioni, Enrico Bertini, Lorena Travaglini, José M. Millán, Elena Aller, Javier Sotoca, Raúl Juntas, Christina Engel Hoei-Hansen, Antonio Moreno-Escribano, Encarna Guillén-Navarro, Laura Costa-Comellas, Francina Munell, Susana Boronat, Ricardo Rojas-García, Mónica Povedano, Ivon Cuscó, Eduardo F. Tizzano
المصدر: International Journal of Molecular Sciences, Vol 23, Iss 15, p 8289 (2022)
مصطلحات موضوعية: spinal muscular atrophy, SMN2 copies, phenotype–genotype correlations, positive modifiers, next-generation sequencing, Biology (General), QH301-705.5, Chemistry, QD1-999
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Sara Bernal, Irene Pelaez, Laura Alias, Manel Baena, Juan A. De Pablo-Moreno, Luis J. Serrano, M. Dolores Camero, Eduardo F. Tizzano, Ruben Berrueco, Antonio Liras
المصدر: International Journal of Molecular Sciences, Vol 22, Iss 18, p 9705 (2021)
مصطلحات موضوعية: factor V deficiency, parahemophilia, Owren’s disease, mutation analysis, advanced therapies, Biology (General), QH301-705.5, Chemistry, QD1-999
وصف الملف: electronic resource
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3
المؤلفون: Selena Trifunov, Daniel Natera-de Benito, Laura Carrera-García, Anna Codina, Jesica Expósito-Escudero, Carlos Ortez, Julita Medina, Soraya Torres Alcala, Sara Bernal, Laura Alias, Carmen Badosa, Sol Balsells, Daniel Alcolea, Andres Nascimento, Cecilia Jimenez-Mallebrera
المصدر: Journal of Neuromuscular Diseases. :1-13
مصطلحات موضوعية: Neurology, Neurology (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::ad4a1b6691024c0c071b4a1b4bc1c0b8
https://doi.org/10.3233/jnd-230012 -
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المؤلفون: Eduardo F. Tizzano, Ivon Cuscó, Laura Blasco-Pérez, Sara Bernal, Jordi Leno, Ida Paramonov, Laura Alias, Pablo Fuentes-Prior
المصدر: Human Mutation
HUMAN MUTATION
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instnameمصطلحات موضوعية: SMN2 copies, DNA Copy Number Variations, Genotype, DNA Mutational Analysis, phenotype–, Gene Dosage, genotype correlations, next‐generation sequencing, Phenotype-genotype correlations, Computational biology, Disease, SMN1, Biology, Polymerase Chain Reaction, Polymorphism, Single Nucleotide, DNA sequencing, law.invention, Muscular Atrophy, Spinal, 03 medical and health sciences, law, generation sequencing, Genetics, medicine, Methods, paralogous variants, Humans, Gene, Genetics (clinical), Polymerase chain reaction, Genetic Association Studies, 030304 developmental biology, phenotype–genotype correlations, spinal muscular atrophy, 0303 health sciences, 030305 genetics & heredity, High-Throughput Nucleotide Sequencing, Spinal muscular atrophy, medicine.disease, SMA, Phenotype, Survival of Motor Neuron 1 Protein, nervous system diseases, Survival of Motor Neuron 2 Protein, next‐, Next-generation sequencing
وصف الملف: application/pdf
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المؤلفون: Irene Pelaez, Antonio Liras, Juan Andres De Pablo-Moreno, Eduardo F. Tizzano, M. Dolores Camero, Luis J. Serrano, Sara Bernal, Laura Alias, Rubén Berrueco, Manel Baena
المساهمون: Institut Català de la Salut, [Bernal S, Alias L] Department of Genetics, Santa Creu i Sant Pau Hospital and IIB Sant Pau, 08041 Barcelona, Spain. CIBERER. U-705, 18014 Barcelona, Spain. [Pelaez I] Department of Pediatric and Oncohematology, University Hospital Virgen de las Nieves, 18014 Granada, Spain. [Baena M] Department of Genetics, Santa Creu i Sant Pau Hospital and IIB Sant Pau, 08041 Barcelona, Spain. [De Pablo-Moreno JA, Serrano LJ] Department of Genetic, Physiology and Microbiology, School of Biology, Complutense University, 28040 Madrid, Spain. [Tizzano EF] Servei de Genètica Clínica i Molecular, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Grup de Recerca en Genètica de la Medicina, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus
المصدر: International Journal of Molecular Sciences
E-Prints Complutense. Archivo Institucional de la UCM
instname
International Journal of Molecular Sciences, Vol 22, Iss 9705, p 9705 (2021)
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
Volume 22
Issue 18
Scientiaمصطلحات موضوعية: Male, Advanced therapies, Owren’s disease, Parahemophilia, DNA Mutational Analysis, técnicas de investigación::técnicas genéticas::análisis de secuencias::análisis de secuencias de ADN::análisis de mutaciones del ADN [TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS], Missense mutation, Platelet, Pakistan, Biology (General), Frameshift Mutation, Otros calificadores::/terapia [Otros calificadores], Spectroscopy, Coagulation Disorder, Clotting factor, advanced therapies, enfermedades hematológicas y linfáticas::enfermedades hematológicas::trastornos de la coagulación sanguínea::trastornos de la coagulación sanguínea hereditarios::deficiencia del factor V [ENFERMEDADES], biology, Factor V, General Medicine, Recombinant Proteins, Computer Science Applications, Chemistry, Mutation analysis, Factor V deficiency, Codon, Nonsense, Investigative Techniques::Genetic Techniques::Sequence Analysis::Sequence Analysis, DNA::DNA Mutational Analysis [ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT], Child, Preschool, Sang - Coagulació - Trastorns, Female, Blood Coagulation Tests, Amino Acids, Peptides, and Proteins::Proteins::Recombinant Proteins [CHEMICALS AND DRUGS], Blood Platelets, factor V deficiency, Factor V Deficiency, DNA, Complementary, Adolescent, QH301-705.5, aminoácidos, péptidos y proteínas::proteínas::proteínas recombinantes [COMPUESTOS QUÍMICOS Y DROGAS], Nonsense mutation, Catalysis, Article, Frameshift mutation, Inorganic Chemistry, Blood Coagulation Disorders, Inherited, Proteïnes recombinants, Owren's disease, Humans, Physical and Theoretical Chemistry, Molecular Biology, QD1-999, Blood Coagulation, mutation analysis, Seqüència de nucleòtids, Family Health, Hemic and Lymphatic Diseases::Hematologic Diseases::Blood Coagulation Disorders::Blood Coagulation Disorders, Inherited::Factor V Deficiency [DISEASES], Organic Chemistry, Other subheadings::/therapy [Other subheadings], Sequence Analysis, DNA, Genética, parahemophilia, Spain, biology.protein, Cancer research
وصف الملف: application/pdf
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المؤلفون: Julia de Juan, María del Prado Venegas, Nuria Cliville, Susana Boronat, Laura Alias, Clara Serra, Albert Pujol, César Orús, Adriana Lasa, Sabina Luna
المصدر: Biomedical Journal of Scientific & Technical Research. 37
مصطلحات موضوعية: Genetics, Waardenburg syndrome, business.industry, Hearing loss, media_common.quotation_subject, medicine.medical_treatment, Nonsense, General Medicine, medicine.disease, Microphthalmia-associated transcription factor, Cochlear implant, Clinical heterogeneity, Mutation (genetic algorithm), medicine, medicine.symptom, business, media_common, Hypopigmentation
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::40111b7eae68ccf1c2859cfb808ea687
https://doi.org/10.26717/bjstr.2021.37.005952 -
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المؤلفون: Maite Calucho, Laura Blasco-Pérez, Pablo Fuentes-Prior, Eduardo F. Tizzano, Laura Alias, Sara Bernal, Ivon Cuscó
المصدر: Neurology: Genetics
article-version (Version of Record) 3مصطلحات موضوعية: business.industry, MEDLINE, Severe disease, Spinal muscular atrophy, Guideline, Disease, medicine.disease, SMA, Bioinformatics, Article, nervous system diseases, Clinical trial, Medicine, In patient, Neurology (clinical), business, Genetics (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8718f05feb3d77c97490fb2f7b407dc6
http://europepmc.org/articles/PMC7713720 -
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المؤلفون: Maite Calucho, Pia Gallano, Eduardo F. Tizzano, Laura Alias, Pablo Fuentes-Prior, Clara Serra-Juhé, Anna Abuli, Francesca March, Elisabeth Martínez, Sara Bernal
المصدر: EUROPEAN JOURNAL OF HUMAN GENETICS
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instnameمصطلحات موضوعية: Male, 0301 basic medicine, Heterozygote, Population, Genetic Carrier Screening, Genetic Counseling, SMN1, 030105 genetics & heredity, Biology, Brief Communication, Muscular Atrophy, Spinal, 03 medical and health sciences, Exon, Genetics, medicine, Humans, Age of Onset, Allele, education, Gene, Genetics (clinical), Sequence Deletion, education.field_of_study, Spinal muscular atrophy, medicine.disease, SMA, Survival of Motor Neuron 1 Protein, Pedigree, nervous system diseases, Female
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المؤلفون: Laura Alias, Elisabeth Martínez, Jaume Crespi, Lidia Gonzalez-Quereda, Ma Pia Gallano, Jesús Téllez, Sara Bernal
المصدر: BMC Medical Genetics, Vol 19, Iss 1, Pp 1-8 (2018)
BMC Medical Genetics
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instnameمصطلحات موضوعية: Male, 0301 basic medicine, Iris, 030105 genetics & heredity, Ectopia Lentis, Corneal Diseases, Consanguinity, 0302 clinical medicine, Microspherophakia, Genetics (clinical), Exome sequencing, Genetics, Sanger sequencing, High-Throughput Nucleotide Sequencing, Exons, Pedigree, NGS, Mutation (genetic algorithm), symbols, Female, Research Article, Adult, lcsh:Internal medicine, lcsh:QH426-470, Biology, White People, DNA sequencing, 03 medical and health sciences, symbols.namesake, medicine, Humans, Point Mutation, Genetic Predisposition to Disease, lcsh:RC31-1245, Genetic Association Studies, LTBP2 gene, Genetic heterogeneity, Haplotype, Glaucoma, Sequence Analysis, DNA, medicine.disease, Clinical exome sequencing, Mutagenesis, Insertional, lcsh:Genetics, Latent TGF-beta Binding Proteins, Spain, Mutation, 030221 ophthalmology & optometry, Eye disorder, TruSight one sequencing panel
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المؤلفون: Eduardo F. Tizzano, Miguel M. Pinto, Jocelyn Laporte, Edoardo Malfatti, Michel Fardeau, Xavière Lornage, Clémence Labasse, Fabiana Lubieniecki, Soledad Monges, Laura Alias, Norma B. Romero, A. Madelaine
المصدر: MUSCLE & NERVE
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instnameمصطلحات موضوعية: 0301 basic medicine, Male, Pathology, medicine.medical_specialty, Physiology, Biopsy, Pontocerebellar hypoplasia, Context (language use), 030105 genetics & heredity, Myopathies, Nemaline, Cohort Studies, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Physiology (medical), medicine, Humans, congenital hypotonia, Nemaline bodies, Muscle, Skeletal, nemaline bodies, Muscle biopsy, medicine.diagnostic_test, Exosome Multienzyme Ribonuclease Complex, non-5q spinal muscular atrophy, business.industry, Infant, Newborn, RNA-Binding Proteins, Sarcoma, medicine.disease, Type 1 pontocerebellar hypoplasia, EXOSC3 gene, Neonatal hypotonia, Child, Preschool, Mutation, Olivopontocerebellar Atrophies, sarcomeric disorganization, Cerebellar atrophy, Female, Neurology (clinical), Myofibril, business, 030217 neurology & neurosurgery, Congenital disorder