نتائج البحث - "Laura Alias"

المصدر: Human Mutation
HUMAN MUTATION
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
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مصطلحات 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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::efc2e2956237942ba042acd0da8f4ab7
http://europepmc.org/articles/PMC8252042

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5

High Mutational Heterogeneity, and New Mutations in the Human Coagulation Factor V Gene. Future Perspectives for Factor V Deficiency Using Recombinant and Advanced Therapies

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
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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
Scientia

مصطلحات 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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::964c95ce9b57585bca66f01d1af8310b
https://pubmed.ncbi.nlm.nih.gov/34575869

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6

A Nonsense MITF Mutation Associated with Autosomal Dominant Hearing Loss and Intra-Family Clinical Heterogeneity

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

7

Practical guidelines to manage discordant situations of SMN2 copy number in patients with spinal muscular atrophy

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) 3

مصطلحات 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

8

Utility of two SMN1 variants to improve spinal muscular atrophy carrier diagnosis and genetic counselling

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
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URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::82e862fea48c3fedd82fd63c9e1e7c26
https://doi.org/10.1038/s41431-018-0193-4

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9

Next-generation sequencing reveals a new mutation in the LTBP2 gene associated with microspherophakia in a Spanish family

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
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مصطلحات 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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d26a1dc001f29f2c9abb0d3be18abc9
http://link.springer.com/article/10.1186/s12881-018-0590-0

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10

Sarcomeric disorganization and nemaline bodies in muscle biopsies of patients with EXOSC3-related type 1 pontocerebellar hypoplasia

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
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مصطلحات 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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dbf7a19ca48f5137390c41469efbd91a
https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=3153

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