يعرض 1 - 5 نتائج من 5 نتيجة بحث عن '"Iris Barny"', وقت الاستعلام: 0.86s تنقيح النتائج
  1. 1
    دورية أكاديمية
    AON-Mediated Exon Skipping to Bypass Protein Truncation in Retinal Dystrophies Due to the Recurrent CEP290 c.4723A > T Mutation. Fact or Fiction?

    المؤلفون: Iris Barny, Isabelle Perrault, Christel Michel, Nicolas Goudin, Sabine Defoort-Dhellemmes, Imad Ghazi, Josseline Kaplan, Jean-Michel Rozet, Xavier Gerard

    المصدر: Genes, Vol 10, Iss 5, p 368 (2019)

    مصطلحات موضوعية: Leber congenital amaurosis and allied retinal ciliopathies, CEP290, Flanders founder c.4723A >, T nonsense mutation, Cilia elongation, spontaneous nonsense correction, AON-mediated exon skipping, Genetics, QH426-470

    وصف الملف: electronic resource

    العلاقة: https://www.mdpi.com/2073-4425/10/5/368Test; https://doaj.org/toc/2073-4425Test

    الوصول الحر: https://doaj.org/article/e6db90b50538497d870b87ccf6d50f93Test

    View record in DOAJ النص الكامل

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  2. 2
    Description of Two Siblings with Apparently Severe CEP290 Mutations and Unusually Mild Retinal Disease Unrelated to Basal Exon Skipping or Nonsense-Associated Altered Splicing

    المؤلفون: Iris, Barny, Isabelle, Perrault, Marlène, Rio, Hélène, Dollfus, Sabine, Defoort-Dhellemmes, Josseline, Kaplan, Jean-Michel, Rozet, Xavier, Gerard

    المصدر: Advances in experimental medicine and biology. 1185

    مصطلحات موضوعية: Cytoskeletal Proteins, Retinal Diseases, Antigens, Neoplasm, Codon, Nonsense, RNA Splicing, Siblings, Mutation, Humans, Cell Cycle Proteins, Exons

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::1ee46e57f0e83e0682cd45014263f126Test
    https://pubmed.ncbi.nlm.nih.gov/31884610Test


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  3. 3
    Basal exon skipping and nonsense-associated altered splicing allows bypassing complete CEP290 loss-of-function in individuals with unusually mild retinal disease

    المؤلفون: Josseline Kaplan, Tania Attié-Bitach, Christian P. Hamel, Christel Michel, Isabelle Perrault, Xavier Gérard, Sophie Thomas, Hélène Dollfus, Nicolas Goudin, Mickael Soussan, Iris Barny, Marlène Rio, Jean-Michel Rozet

    المساهمون: Imagine - Institut des maladies génétiques (IMAGINE - U1163), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Structure Fédérative de Recherche Necker (SFR Necker - UMS 3633 / US24), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5)-Centre National de la Recherche Scientifique (CNRS), Service de Génétique Médicale [CHU Necker], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Université Paris Descartes - Paris 5 (UPD5), Université Sorbonne Paris Cité (USPC), CHU Necker - Enfants Malades [AP-HP], Embryology and genetics of human malformation (Equipe Inserm U1163), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut des Neurosciences de Montpellier - Déficits sensoriels et moteurs (INM), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Necker - Enfants Malades [AP-HP], Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)

    المصدر: Human Molecular Genetics
    Human Molecular Genetics, Oxford University Press (OUP), 2018, ⟨10.1093/hmg/ddy179⟩

    مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Adolescent, RNA Splicing, [SDV]Life Sciences [q-bio], Nonsense mutation, Mutant, Cell Cycle Proteins, Biology, Compound heterozygosity, medicine.disease_cause, Autoantigens, 03 medical and health sciences, Exon, 0302 clinical medicine, Retinal Diseases, Antigens, Neoplasm, Genetics, medicine, Humans, Cilia, Child, Eye Proteins, Molecular Biology, Genetics (clinical), Centrosome, Mutation, Tumor Suppressor Proteins, Cilium, Exons, General Medicine, Fibroblasts, Molecular biology, Exon skipping, Neoplasm Proteins, Cytoskeletal Proteins, Protein Transport, 030104 developmental biology, Codon, Nonsense, RNA splicing, Codon, Terminator, Female, 030217 neurology & neurosurgery

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::da71fef27aa1310e103928d32d05f779Test
    https://doi.org/10.1093/hmg/ddy179Test


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  4. 4
    AON-Mediated Exon Skipping to Bypass Protein Truncation in Retinal Dystrophies Due to the Recurrent CEP290 c.4723A > T Mutation. Fact or Fiction?

    المؤلفون: Imad Ghazi, Isabelle Perrault, Nicolas Goudin, Jean-Michel Rozet, Josseline Kaplan, Sabine Defoort-Dhellemmes, Iris Barny, Christel Michel, Xavier Gérard

    المصدر: Genes, Vol 10, Iss 5, p 368 (2019)
    Genes, vol. 10, no. 5

    مصطلحات موضوعية: 0301 basic medicine, lcsh:QH426-470, 030105 genetics & heredity, Biology, spontaneous nonsense correction, medicine.disease_cause, 03 medical and health sciences, chemistry.chemical_compound, Exon, Genetics, medicine, Leber congenital amaurosis and allied retinal ciliopathies, Genetics (clinical), Flanders founder c.4723A >, Mutation, Cilium, Retinal, medicine.disease, Molecular biology, Exon skipping, Cilia elongation, Ciliopathy, Antigens, Neoplasm/genetics, Antigens, Neoplasm/metabolism, Cell Cycle Proteins/genetics, Cell Cycle Proteins/metabolism, Codon, Nonsense, Cytoskeletal Proteins/genetics, Cytoskeletal Proteins/metabolism, Exons/genetics, Eye Abnormalities/genetics, Eye Diseases, Hereditary/genetics, Humans, Male, Neoplasm Proteins/genetics, Oligonucleotides, Antisense/genetics, RNA Splicing, Retina/metabolism, Retinal Dystrophies/genetics, Retinal Dystrophies/physiopathology, AON-mediated exon skipping, CEP290, Flanders founder c.4723A > Leber congenital amaurosis and allied retinal ciliopathies, T nonsense mutation, lcsh:Genetics, 030104 developmental biology, chemistry, RNA splicing, Retinal Dystrophies

    وصف الملف: application/pdf

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::85d1b3289409a8e17d29649a47b30231Test
    https://www.mdpi.com/2073-4425/10/5/368Test


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  5. 5
    Description of Two Siblings with Apparently Severe CEP290 Mutations and Unusually Mild Retinal Disease Unrelated to Basal Exon Skipping or Nonsense-Associated Altered Splicing

    المؤلفون: Xavier Gérard, Sabine Defoort-Dhellemmes, Isabelle Perrault, Josseline Kaplan, Marlène Rio, Jean-Michel Rozet, Iris Barny, Hélène Dollfus

    المصدر: Retinal Degenerative Diseases ISBN: 9783030273774

    مصطلحات موضوعية: Gene isoform, Genetics, media_common.quotation_subject, Nonsense, Intron, Biology, Ciliopathies, Exon skipping, 03 medical and health sciences, Exon, 0302 clinical medicine, RNA splicing, 030212 general & internal medicine, Allele, media_common

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::473703899ea83e1c15b70a6c4dd79040Test
    https://doi.org/10.1007/978-3-030-27378-1_31Test


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