يعرض 1 - 10 نتائج من 48 نتيجة بحث عن '"Nathalie Bonello-Palot"', وقت الاستعلام: 1.49s تنقيح النتائج
  1. 1
    دورية أكاديمية
    Functional and Molecular Characterization of New SPTLC1 Missense Variants in Patients with Hereditary Sensory and Autonomic Neuropathy Type 1 (HSAN1)

    المؤلفون: Julie Rochat, André Blavier, Séverine Ruet, Sophie Vasseur, Angela Puma, Béatrice Desnous, Victor Chan, Emilien Delmont, Shahram Attarian, Raul Juntas Morales, Isabelle Quadrio, Léo Vidoni, Nathalie Bonello-Palot, David Cheillan

    المصدر: Genes, Vol 15, Iss 6, p 692 (2024)

    مصطلحات موضوعية: sphingolipids, hereditary neuropathy, SPTLC1, molecular genetics, in silico tools, Genetics, QH426-470

    وصف الملف: electronic resource

    Relation: https://www.mdpi.com/2073-4425/15/6/692; https://doaj.org/toc/2073-4425

    URL الوصول: https://doaj.org/article/fa465a34f426489c99bcff22f97719f9

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  2. 2
    دورية أكاديمية
    A National French Consensus on Gene List for the Diagnosis of Charcot–Marie–Tooth Disease and Related Disorders Using Next-Generation Sequencing

    المؤلفون: Thibaut Benquey, Emmanuelle Pion, Mireille Cossée, Martin Krahn, Tanya Stojkovic, Aurélien Perrin, Mathieu Cerino, Annamaria Molon, Anne-Sophie Lia, Corinne Magdelaine, Bruno Francou, Anne Guiochon-Mantel, Marie-Claire Malinge, Eric Leguern, Nicolas Lévy, Shahram Attarian, Philippe Latour, Nathalie Bonello-Palot

    المصدر: Genes, Vol 13, Iss 2, p 318 (2022)

    مصطلحات موضوعية: rare diseases, public health, Charcot–Marie–Tooth disease, next generation sequencing, consensus gene list, Genetics, QH426-470

    وصف الملف: electronic resource

    Relation: https://www.mdpi.com/2073-4425/13/2/318; https://doaj.org/toc/2073-4425

    URL الوصول: https://doaj.org/article/bb4b83d625404ec689f638a210e74748

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  3. 3
    دورية أكاديمية
    A Rare Mutation in LMNB2 Associated with Lipodystrophy Drives Premature Cell Senescence

    المؤلفون: Alice-Anaïs Varlet, Camille Desgrouas, Cécile Jebane, Nathalie Bonello-Palot, Patrice Bourgeois, Nicolas Levy, Emmanuèle Helfer, Noémie Dubois, René Valero, Catherine Badens, Sophie Beliard

    المصدر: Cells, Vol 11, Iss 1, p 50 (2021)

    مصطلحات موضوعية: lamin B2, LMNB2, nuclear envelope, hypertriglyceridemia, type 2 diabetes, lipodystrophy, Cytology, QH573-671

    وصف الملف: electronic resource

    Relation: https://www.mdpi.com/2073-4409/11/1/50; https://doaj.org/toc/2073-4409

    URL الوصول: https://doaj.org/article/672b201c4aeb42159b616e0dc7d6ae3b

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  4. 4
    دورية أكاديمية
    Three Mexican Families with β thalassemia intermedia with different molecular basis

    المؤلفون: Lourdes del Carmen Rizo de la Torre, Francisco Javier Perea Díaz, Bertha Ibarra Cortés, Víctor Manuel Rentería López, Josefina Yoaly Sánchez López, Francisco Javier Sánchez Anzaldo, María Teresa Magaña Torres, Katia Gonnet, Catherine Badens, Nathalie Bonello-Palot

    المصدر: Genetics and Molecular Biology, Vol 42, Iss 4 (2020)

    مصطلحات موضوعية: Thalassemia intermedia, Mexican population, β globin gene, new mutations, alpha-globin gene duplication, Genetics, QH426-470

    وصف الملف: electronic resource

    Relation: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019000500104&tlng=en; http://www.scielo.br/pdf/gmb/v42n4/1415-4757-GMB-42-4-e20190032.pdf; https://doaj.org/toc/1678-4685

    URL الوصول: https://doaj.org/article/8588f34652d04c23b4a056d74528f0a5

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  5. 5
    دورية أكاديمية
    Unraveling LMNA Mutations in Metabolic Syndrome: Cellular Phenotype and Clinical Pitfalls

    المؤلفون: Camille Desgrouas, Alice-Anaïs Varlet, Anne Dutour, Damien Galant, Françoise Merono, Nathalie Bonello-Palot, Patrice Bourgeois, Adèle Lasbleiz, Cathy Petitjean, Patricia Ancel, Nicolas Levy, Catherine Badens, Bénédicte Gaborit

    المصدر: Cells, Vol 9, Iss 2, p 310 (2020)

    مصطلحات موضوعية: dyslipidemia, metabolic syndrome, insulin resistance, lamin a/c, nuclear anomalies and premature senescence, Cytology, QH573-671

    وصف الملف: electronic resource

    Relation: https://www.mdpi.com/2073-4409/9/2/310; https://doaj.org/toc/2073-4409

    URL الوصول: https://doaj.org/article/b80c42a72b334a378e9c101f1dcf8c37

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  6. 6
    دورية أكاديمية
    A Heterozygous ZMPSTE24 Mutation Associated with Severe Metabolic Syndrome, Ectopic Fat Accumulation, and Dilated Cardiomyopathy

    المؤلفون: Damien Galant, Bénédicte Gaborit, Camille Desgrouas, Ines Abdesselam, Monique Bernard, Nicolas Levy, Françoise Merono, Catherine Coirault, Patrice Roll, Arnaud Lagarde, Nathalie Bonello-Palot, Patrice Bourgeois, Anne Dutour, Catherine Badens

    المصدر: Cells, Vol 5, Iss 2, p 21 (2016)

    مصطلحات موضوعية: metabolic syndrome, cardiomyopathy, ZMPSTE24, premature senescence, nuclear anomalies, laminopathy, Cytology, QH573-671

    وصف الملف: electronic resource

    Relation: http://www.mdpi.com/2073-4409/5/2/21; https://doaj.org/toc/2073-4409

    URL الوصول: https://doaj.org/article/ea2a8ad1ac2940b999d56a10f3bd6006

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  7. 7
    دورية أكاديمية
    First case of γ-thalassemia in association with a βS allele: a pitfall in the neonatal screening for sickle cell disease

    المؤلفون: Caroline Lacoste, Nathalie Bonello-Palot, Katia Gonnet, Françoise Merono, Nicolas Levy, Isabelle Thuret, Catherine Badens

    المصدر: Haematologica, Vol 93, Iss 11 (2008)

    مصطلحات موضوعية: Diseases of the blood and blood-forming organs, RC633-647.5

    وصف الملف: electronic resource

    Relation: https://haematologica.org/article/view/5086; https://doaj.org/toc/0390-6078; https://doaj.org/toc/1592-8721

    URL الوصول: https://doaj.org/article/fa6aa1a4ac154b15b35376ead934f642

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  8. 8
    SORD ‐related peripheral neuropathy in a French and Swiss cohort: Clinical features, genetic analyses, and sorbitol dosages

    المؤلفون: Nicolas Pons, Gorka Fernández‐Eulate, Antoine Pegat, Marie Théaudin, Régis Guieu, Paolo Ripellino, Manon Devedjian, Patrick Mace, Marion Masingue, Sarah Léonard‐Louis, Philipe Petiot, Pauline Roche, Emilien Bernard, Françoise Bouhour, Jean‐Marc Good, Annie Verschueren, Aude‐Marie Grapperon, Emmanuelle Salort, Anaïs Grosset, Jean‐Baptiste Chanson, Aleksandra Nadaj‐Pakleza, Anne‐Laure Bédat‐Millet, Ariane Choumert, Anne Barnier, Ghassen Hamdi, Gaëtan Lesca, Fabienne Prieur, Arnaud Bruneel, Philippe Latour, Tanya Stojkovic, Shahram Attarian, Nathalie Bonello‐Palot

    المصدر: European Journal of Neurology.

    مصطلحات موضوعية: Neurology, Neurology (clinical)

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::7159cc223fe3b6844433bc66560368d3
    https://doi.org/10.1111/ene.15793

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  9. 9
    Co-occurrence of oculocutaneous albinism type 2 and mild sickle cell disease explained by HbS/βthal genotype in an individual from the Democratic Republic of Congo

    المؤلفون: Robert Aquaron, Eulalie Lasseaux, Joseph Kelekele, Nathalie Bonello-Palot, Catherine Badens, Benoit Arveiler, Leon Tshilolo

    المصدر: European journal of medical genetics. 65(10)

    مصطلحات موضوعية: Genotype, alpha-Globins, Albinism, Oculocutaneous, Genetics, Democratic Republic of the Congo, Humans, Female, General Medicine, Anemia, Sickle Cell, Carrier Proteins, Genetics (clinical)

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d5cbc9151559bd97842a6dbae431a1ee
    https://pubmed.ncbi.nlm.nih.gov/35964929

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  10. 10
    HbF-promoting polymorphisms may specifically reduce the residual risk of cerebral vasculopathy in SCA children with alpha-thalassemia

    المؤلفون: Philippe Connes, Céline Renoux, Abdourahim Chamouine, Yves Bertrand, Françoise Bernaudin, Nathalie Bonello-Palot, Catherine Badens, Philippe Joly, Serge Pissard

    المساهمون: Gall, Valérie, Laboratoire Interuniversitaire de Biologie de la Motricité (LIBM ), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Université Jean Monnet [Saint-Étienne] (UJM)-Université Savoie Mont Blanc (USMB [Université de Savoie] [Université de Chambéry]), Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de Référence des Syndromes Drépanocytaires Majeurs, Thalassémies et Autres pathologies rares du globule rouge et de l’Erythropoïèse, Assistance Publique - Hôpitaux de Marseille (APHM), Hôpital Henri Mondor, Centre Hospitalier de Mayotte, Centre Hospitalier Intercommunal de Créteil (CHIC), Institut d'hématologie et d'oncologie pédiatrique [CHU - HCL] (IHOPe), Hospices Civils de Lyon (HCL), Université de Lyon-Université de Lyon-Université Jean Monnet - Saint-Étienne (UJM)-Université Savoie Mont Blanc (USMB [Université de Savoie] [Université de Chambéry])

    المصدر: Clinical Hemorheology and Microcirculation
    Clinical Hemorheology and Microcirculation, IOS Press, 2021, 77 (3), pp.267-272. ⟨10.3233/CH-200951⟩
    Clinical Hemorheology and Microcirculation, 2021, 77 (3), pp.267-272. ⟨10.3233/CH-200951⟩

    مصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, Physiology, Anemia, Sickle Cell, [SDV.GEN] Life Sciences [q-bio]/Genetics, Alpha-thalassemia, Disease, Quantitative trait locus, Polymorphism, Single Nucleotide, Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, alpha-Thalassemia, hemic and lymphatic diseases, Physiology (medical), Genotype, medicine, Humans, Child, Fetal Hemoglobin, [SDV.GEN]Life Sciences [q-bio]/Genetics, [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, business.industry, Hematology, medicine.disease, Sickle cell anemia, Residual risk, Red blood cell, medicine.anatomical_structure, 030220 oncology & carcinogenesis, Immunology, Female, Cardiology and Cardiovascular Medicine, business, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, 030215 immunology

    وصف الملف: application/pdf

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd26c9c0bc089d9bd57e7ff46c8eb1cd
    https://doi.org/10.3233/ch-200951

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