检索结果 - Béatrice Parfait

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  1. 1
    Inborn errors of the Krebs cycle: a group of unusual mitochondrial diseases in human

    Inborn errors of the Krebs cycle: a group of unusual mitochondrial diseases in human 由 Pierre Rustin, Thomas Bourgeron, Béatrice Parfait, Dominique Chrétien, Arnold Münnich, Agnès Rötig

    出版 1997
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  2. 2
    Long-term follow-up of 287 meningiomas in neurofibromatosis type 2 patients: clinical, radiological, and molecular features

    Long-term follow-up of 287 meningiomas in neurofibromatosis type 2 patients: clinical, radiological, and molecular features 由 Stéphane Goutagny, Alpha Boubacar Bah, Dominique Hénin, Béatrice Parfait, A. Bozorg Grayeli, Olivier Sterkers, M. Kalamaridès

    出版 2012
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    Artigo
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  3. 3
    Molecular profiling of malignant peripheral nerve sheath tumors associated with neurofibromatosis type 1, based on large-scale real-time RT-PCR.

    Molecular profiling of malignant peripheral nerve sheath tumors associated with neurofibromatosis type 1, based on large-scale real-time RT-PCR. 由 Pascale Lévy, Dominique Vidaud, Karen Leroy, Ingrid Laurendeau, Janine Wechsler, Giulia Bolasco, Béatrice Parfait, P. Wolkenstein, Michel Vidaud, Ivan Bièche

    出版 2004
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    Artigo
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  4. 4
    High glucose and hyperinsulinemia stimulate connective tissue growth factor expression: A potential mechanism involved in progression to fibrosis in nonalcoholic steatohepatitis

    High glucose and hyperinsulinemia stimulate connective tissue growth factor expression: A potential mechanism involved in progression to fibrosis in nonalcoholic steatohepatitis 由 Valérie Paradis, Gabriel Perlemuter, Franck Bonvoust, Delphine Dargère, Béatrice Parfait, Michel Vidaud, Marc Conti, Stéphane Huet, Nathalie Bâ, Catherine Buffet, Pierre Bédossa

    出版 2001
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    Artigo
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  5. 5
    Unravelling the genetic basis of variable clinical expression in neurofibromatosis 1

    Unravelling the genetic basis of variable clinical expression in neurofibromatosis 1 由 Audrey Sabbagh, Éric Pasmant, Ingrid Laurendeau, Béatrice Parfait, S. Barbarot, B. Guillot, P. Combemale, S. Ferkal, Michel Vidaud, Patrick Aubourg, Dominique Vidaud, P. Wolkenstein

    出版 2009
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    Artigo
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  6. 6
    A High Rate (20%–30%) of Parental Consanguinity in Cytochrome-Oxidase Deficiency

    A High Rate (20%–30%) of Parental Consanguinity in Cytochrome-Oxidase Deficiency 由 Jürgen‐Christoph von Kleist-Retzow, Valérie Cormier‐Daire, Pascale de Lonlay, Béatrice Parfait, Dominique Chrétien, Pierre Rustin, Josué Feingold, Agnès Rötig, Arnold Münnich

    出版 1998
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    Artigo
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  7. 7
    Dual mTORC1/2 inhibition induces anti-proliferative effect in NF1-associated plexiform neurofibroma and malignant peripheral nerve sheath tumor cells

    Dual mTORC1/2 inhibition induces anti-proliferative effect in NF1-associated plexiform neurofibroma and malignant peripheral nerve sheath tumor cells 由 Jennifer Varin, Laury Poulain, Mikaël Hivelin, Patrick Nusbaum, Arnaud Hubas, Ingrid Laurendeau, Laurent Lantieri, P. Wolkenstein, Michel Vidaud, Éric Pasmant, Nicolas Chapuis, Béatrice Parfait

    出版 2016
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    Artigo
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  8. 8
    Neurofibromatosis type 1 molecular diagnosis: what can NGS do for you when you have a large gene with loss of function mutations?

    Neurofibromatosis type 1 molecular diagnosis: what can NGS do for you when you have a large gene with loss of function mutations? 由 Éric Pasmant, Béatrice Parfait, Armelle Luscan, P. Goussard, Audrey Briand‐Suleau, Ingrid Laurendeau, Corinne Fouveaut, Chrystel Leroy, Annelore Montadert, P. Wolkenstein, Michel Vidaud, Dominique Vidaud

    出版 2014
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    Artigo
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  9. 9
    Identification of Genes Potentially Involved in the Increased Risk of Malignancy in NF1-Microdeleted Patients

    Identification of Genes Potentially Involved in the Increased Risk of Malignancy in NF1-Microdeleted Patients 由 Éric Pasmant, Julien Masliah‐Planchon, Pascale Lévy, Ingrid Laurendeau, Nicolás Ortonne, Béatrice Parfait, L. Valeyrie‐Allanore, Karen Leroy, P. Wolkenstein, Michel Vidaud, Dominique Vidaud, Ivan Bièche

    出版 2010
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    Artigo
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  10. 10
    First description of ABCB4 gene deletions in familial low phospholipid-associated cholelithiasis and oral contraceptives-induced cholestasis

    First description of ABCB4 gene deletions in familial low phospholipid-associated cholelithiasis and oral contraceptives-induced cholestasis 由 Éric Pasmant, P. Goussard, Laetitia Baranes, Ingrid Laurendeau, Samuel Quentin, P Ponsot, Yann Consigny, Olivier Farges, Bertrand Condat, Dominique Vidaud, Michel Vidaud, Jian‐Min Chen, Béatrice Parfait

    出版 2011
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    Artigo
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  11. 11
    <i>NF1</i> Molecular Characterization and Neurofibromatosis Type I Genotype-Phenotype Correlation: The French Experience

    <i>NF1</i> Molecular Characterization and Neurofibromatosis Type I Genotype-Phenotype Correlation: The French Experience 由 Audrey Sabbagh, Éric Pasmant, Apolline Imbard, Armelle Luscan, Magali Soares, Hélène Blanché, Ingrid Laurendeau, S. Ferkal, Michel Vidaud, S. Pinson, Christine Bellanné‐Chantelot, Dominique Vidaud, Béatrice Parfait, P. Wolkenstein

    出版 2013
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    Artigo
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  12. 12
    Somatic NF1 inactivation is a frequent event in sporadic pheochromocytoma

    Somatic NF1 inactivation is a frequent event in sporadic pheochromocytoma 由 Nelly Burnichon, Alexandre Buffet, Béatrice Parfait, Éric Letouzé, Ingrid Laurendeau, Céline Loriot, Éric Pasmant, Nasséra Abermil, L. Valeyrie‐Allanore, Jérôme Bertherat, Laurence Amar, Dominique Vidaud, Judith Favier, Anne‐Paule Gimenez‐Roqueplo

    出版 2012
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    Artigo
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  13. 13
    Functional Effects of <i>PTPN11</i> (SHP2) Mutations Causing LEOPARD Syndrome on Epidermal Growth Factor-Induced Phosphoinositide 3-Kinase/AKT/Glycogen Synthase Kinase 3β Signaling

    Functional Effects of <i>PTPN11</i> (SHP2) Mutations Causing LEOPARD Syndrome on Epidermal Growth Factor-Induced Phosphoinositide 3-Kinase/AKT/Glycogen Synthase Kinase 3β Signaling... 由 Thomas Édouard, Jean-Philippe Combier, Audrey Nédélec, Sophie Bel-Vialar, Mélanie Metrich, F. Conte-Auriol, Stanislas Lyonnet, Béatrice Parfait, Maïthé Tauber, Jean‐Pierre Salles, Frank Lezoualc’h, Armelle Yart, Patrick Raynal

    出版 2010
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  14. 14
    Targeted next-generation sequencing for differential diagnosis of neurofibromatosis type 2, schwannomatosis, and meningiomatosis

    Targeted next-generation sequencing for differential diagnosis of neurofibromatosis type 2, schwannomatosis, and meningiomatosis 由 Camille Louvrier, Éric Pasmant, Audrey Briand‐Suleau, Joëlle Cohen, Patrick Nitschké, Juliette Nectoux, Lucie Orhant, Cécile Zordan, Cyril Goizet, Stéphane Goutagny, Dominique Lallemand, Michel Vidaud, Dominique Vidaud, Michel Kalamarides, Béatrice Parfait

    出版 2018
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    Artigo
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  15. 15
    Integrative genomic analysis reveals somatic mutations in pheochromocytoma and paraganglioma

    Integrative genomic analysis reveals somatic mutations in pheochromocytoma and paraganglioma 由 Nelly Burnichon, Laure Vescovo, Laurence Amar, Rossella Libé, Aurélien de Reyniès, Annabelle Vénisse, Elodie Jouanno, Ingrid Laurendeau, Béatrice Parfait, Jérôme Bertherat, Pierre‐François Plouin, Xavier Jeunemaı̂tre, Judith Favier, Anne‐Paule Gimenez‐Roqueplo

    出版 2011
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    Artigo
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  16. 16
    Role of Noncoding RNA ANRIL in Genesis of Plexiform Neurofibromas in Neurofibromatosis Type 1

    Role of Noncoding RNA ANRIL in Genesis of Plexiform Neurofibromas in Neurofibromatosis Type 1 由 Éric Pasmant, Audrey Sabbagh, Julien Masliah‐Planchon, Nicolás Ortonne, Ingrid Laurendeau, Lucie Melin, S. Ferkal, Lucie Hernandez, Karen Leroy, L. Valeyrie‐Allanore, Béatrice Parfait, Dominique Vidaud, Ivan Bièche, Laurent Lantieri, P. Wolkenstein, Michel Vidaud

    出版 2011
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    Artigo
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  17. 17
    MicroRNAome profiling in benign and malignant neurofibromatosis type 1-associated nerve sheath tumors: evidences of PTEN pathway alterations in early NF1 tumorigenesis

    MicroRNAome profiling in benign and malignant neurofibromatosis type 1-associated nerve sheath tumors: evidences of PTEN pathway alterations in early NF1 tumorigenesis 由 Julien Masliah‐Planchon, Éric Pasmant, Armelle Luscan, Ingrid Laurendeau, Nicolás Ortonne, Mikaël Hivelin, Jennifer Varin, L. Valeyrie‐Allanore, Valérie Dumaine, Laurent Lantieri, Karen Leroy, Béatrice Parfait, P. Wolkenstein, Michel Vidaud, Dominique Vidaud, Ivan Bièche

    出版 2013
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    Artigo
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  18. 18
    Loss of SMARCE1 expression is a specific diagnostic marker of clear cell meningioma: a comprehensive immunophenotypical and molecular analysis

    Loss of SMARCE1 expression is a specific diagnostic marker of clear cell meningioma: a comprehensive immunophenotypical and molecular analysis 由 Arnault Tauziède‐Espariat, Béatrice Parfait, Aurore Besnard, Joëlle Lacombe, Johan Pallud, Sanaa Tazi, Stéphanie Puget, Guillaume Lot, Benoît Terris, Joëlle Cohen, Michel Vidaud, Dominique Figarella‐Branger, Franck Monnien, Marc Polivka, Homa Adle‐Biassette, Pascale Varlet

    出版 2017
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  19. 19
    SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype

    SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype 由 Éric Pasmant, Audrey Sabbagh, Nadine Hanna, Julien Masliah‐Planchon, Emmitt R. Jolly, P. Goussard, P Ballerini, François Cartault, S. Barbarot, Judith Landman‐Parker, Nadem Soufir, Béatrice Parfait, Michel Vidaud, P. Wolkenstein, Dominique Vidaud, R N F France

    出版 2009
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  20. 20
    Usefulness and analytical performances of complement multiplex assay for measuring complement biomarkers in plasma

    Usefulness and analytical performances of complement multiplex assay for measuring complement biomarkers in plasma 由 Marie-Sophie Meuleman, Anna Duval, Anne Grünenwald, Mikel Rezola Artero, Mohamed Dermani, Julie Peliconi, Margot Revel, Paula Vieira-Martins, Marie Courbebaisse, Béatrice Parfait, David Lebeaux, Gérard Friedlander, Lubka T. Roumenina, Sophie Chauvet, Véronique Frémeaux‐Bacchi, Marie‐Agnès Dragon‐Durey

    出版 2024
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