检索结果 - Christine Bellanné‐Chantelot

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  1. 1
    Mutations in the ELA2 gene correlate with more severe expression of neutropenia: a study of 81 patients from the French Neutropenia Register

    Mutations in the ELA2 gene correlate with more severe expression of neutropenia: a study of 81 patients from the French Neutropenia Register 由 Christine Bellanné‐Chantelot

    出版 2004
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  2. 2
    Genetic and clinical implications of the Val617Phe JAK2 mutation in 72 families with myeloproliferative disorders

    Genetic and clinical implications of the Val617Phe JAK2 mutation in 72 families with myeloproliferative disorders 由 Christine Bellanné‐Chantelot

    出版 2006
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  3. 3
    Best practice guidelines for the molecular genetic diagnosis of maturity-onset diabetes of the young

    Best practice guidelines for the molecular genetic diagnosis of maturity-onset diabetes of the young 由 Sian Ellard, Christine Bellanné‐Chantelot, Andrew T. Hattersley

    出版 2008
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  4. 4
    Congenital neutropenia in the era of genomics: classification, diagnosis, and natural history

    Congenital neutropenia in the era of genomics: classification, diagnosis, and natural history 由 Jean Donadieu, Blandine Beaupain, Odile Fenneteau, Christine Bellanné‐Chantelot

    出版 2017
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  5. 5
    Congenital neutropenia: diagnosis, molecular bases and patient management

    Congenital neutropenia: diagnosis, molecular bases and patient management 由 Jean Donadieu, Odile Fenneteau, Blandine Beaupain, Nizar Mahlaoui, Christine bellanne Chantelot

    出版 2011
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  6. 6
    Mutations in the Genes Encoding the Transcription Factors Hepatocyte Nuclear Factor 1 Alpha and 4 Alpha in Maturity-Onset Diabetes of the Young and Hyperinsulinemic Hypoglycemia

    Mutations in the Genes Encoding the Transcription Factors Hepatocyte Nuclear Factor 1 Alpha and 4 Alpha in Maturity-Onset Diabetes of the Young and Hyperinsulinemic Hypoglycemia 由 Kevin Colclough, Christine Bellanné‐Chantelot, Cécile Saint‐Martin, Sarah E. Flanagan, Sian Ellard

    出版 2013
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  7. 7
    Autism in three patients with cystic or hyperechogenic kidneys and chromosome 17q12 deletion

    Autism in three patients with cystic or hyperechogenic kidneys and chromosome 17q12 deletion 由 Chantal Loirat, Christine Bellanné‐Chantelot, Isabelle Husson, Georges Deschênes, Vincent Guigonis, Nadia Chabane

    出版 2010
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  8. 8
    Genetic Alterations of the Thrombopoietin/MPL/JAK2 Axis Impacting Megakaryopoiesis

    Genetic Alterations of the Thrombopoietin/MPL/JAK2 Axis Impacting Megakaryopoiesis 由 Isabelle Plo, Christine Bellanné‐Chantelot, Matthieu Mosca, Stefania Mazzi, Caroline Marty, William Vainchenker

    出版 2017
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  9. 9
    Vitamin D receptor gene polymorphisms are associated with obesity in type 2 diabetic subjects with early age of onset

    Vitamin D receptor gene polymorphisms are associated with obesity in type 2 diabetic subjects with early age of onset 由 WZ Ye, AF Reis, Danièle Dubois‐Laforgue, Christine Bellanné‐Chantelot, José Timsit, Gilberto Velho

    出版 2001
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  10. 10
    Long-Term Follow-Up of Oral Glucose Tolerance Test–Derived Glucose Tolerance and Insulin Secretion and Insulin Sensitivity Indexes in Subjects With Glucokinase Mutations (MODY2)

    Long-Term Follow-Up of Oral Glucose Tolerance Test–Derived Glucose Tolerance and Insulin Secretion and Insulin Sensitivity Indexes in Subjects With Glucokinase Mutations (MODY2) 由 Delphine Martin, Christine Bellanné‐Chantelot, Inge Deschamps, Philippe Froguel, Jean‐Jacques Robert, Gilberto Velho

    出版 2008
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  11. 11
    Diabetes, Associated Clinical Spectrum, Long-term Prognosis, and Genotype/Phenotype Correlations in 201 Adult Patients With Hepatocyte Nuclear Factor 1B (<i>HNF1B</i>) Molecular Defects

    Diabetes, Associated Clinical Spectrum, Long-term Prognosis, and Genotype/Phenotype Correlations in 201 Adult Patients With Hepatocyte Nuclear Factor 1B (<i>HNF1B</i>) Molecular De... 由 Danièle Dubois‐Laforgue, Erika Cornu, Cécile Saint‐Martin, Joël Coste, Christine Bellanné‐Chantelot, José Timsit

    出版 2017
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  12. 12
    Prevalence of Maturity-Onset Diabetes of the Young Mutations in Brazilian Families With Autosomal- Dominant Early-Onset Type 2 Diabetes

    Prevalence of Maturity-Onset Diabetes of the Young Mutations in Brazilian Families With Autosomal- Dominant Early-Onset Type 2 Diabetes 由 Regina S. Moisés, André F. Reis, Valérie Deldrève, Antônio Roberto Chacra, Sérgio Atala Dib, Christine Bellanné‐Chantelot, Gilberto Velho

    出版 2001
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  13. 13
    Update on mutations in glucokinase (<i>GCK</i>), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia

    Update on mutations in glucokinase (<i>GCK</i>), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia 由 Kara Osbak, Kevin Colclough, Cécile Saint‐Martin, Nicola L. Beer, Christine Bellanné‐Chantelot, Sian Ellard, Anna L. Gloyn

    出版 2009
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  14. 14
    Nine Novel Mutations in Maturity-Onset Diabetes of the Young (MODY) Candidate Genes in 22 Spanish Families

    Nine Novel Mutations in Maturity-Onset Diabetes of the Young (MODY) Candidate Genes in 22 Spanish Families 由 Rosa Barrio, Christine Bellanné‐Chantelot, J.C. Moreno, Valérie Deldrève, H. Calle, M.J. Costa Alonso, C. Mustieles

    出版 2002
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  15. 15
    Update of mutations in the genes encoding the pancreatic beta-cell K<sub>ATP</sub>channel subunits Kir6.2 (<i>KCNJ11</i>) and sulfonylurea receptor 1 (<i>ABCC8</i>) in diabetes mellitus and hyperinsulinism

    Update of mutations in the genes encoding the pancreatic beta-cell K<sub>ATP</sub>channel subunits Kir6.2 (<i>KCNJ11</i>) and sulfonylurea receptor 1 (<i>ABCC8</i>) in diabetes mel... 由 Sarah E. Flanagan, Séverine Clauin, Christine Bellanné‐Chantelot, Pascale de Lonlay, Lorna W. Harries, Anna L. Gloyn, Sian Ellard

    出版 2008
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  16. 16
    Next-generation sequencing identifies monogenic diabetes in 16% of patients with late adolescence/adult-onset diabetes selected on a clinical basis: a cross-sectional analysis

    Next-generation sequencing identifies monogenic diabetes in 16% of patients with late adolescence/adult-onset diabetes selected on a clinical basis: a cross-sectional analysis 由 Xavier Donath, Cécile Saint‐Martin, Danièle Dubois‐Laforgue, Ramanan Rajasingham, F. Mifsud, Cécile Ciangura, José Timsit, Christine Bellanné‐Chantelot

    出版 2019
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  17. 17
    Morphological Mosaicism of the Pancreatic Islets: A Novel Anatomopathological Form of Persistent Hyperinsulinemic Hypoglycemia of Infancy

    Morphological Mosaicism of the Pancreatic Islets: A Novel Anatomopathological Form of Persistent Hyperinsulinemic Hypoglycemia of Infancy 由 Christine Sempoux, Carmen Capito, Christine Bellanné‐Chantelot, Virginie Verkarre, Pascale de Lonlay, Y. Aigrain, C Fekete, Yves Guiot, Jacques Rahier

    出版 2011
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  18. 18
    Anomalies of the TCF2 Gene Are the Main Cause of Fetal Bilateral Hyperechogenic Kidneys

    Anomalies of the TCF2 Gene Are the Main Cause of Fetal Bilateral Hyperechogenic Kidneys 由 Stéphane Decramer, Olivier Parant, Sandrine Beaufils, Séverine Clauin, Cécile Guillou, S. Kessler, Jacqueline Aziza, Isabel Bandı́n, Joost P. Schanstra, Christine Bellanné‐Chantelot

    出版 2007
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  19. 19
    HNF1 β/TCF2 mutations impair transactivation potential through altered co-regulator recruitment

    HNF1 β/TCF2 mutations impair transactivation potential through altered co-regulator recruitment 由 Elena Barbacci, Angeliki Chalkiadaki, Christelle Masdeu, Cécile Haumaître, Ludmilla Lokmane, Chantal Loirat, Sylvie Cloarec, Iannis Talianidis, Christine Bellanné‐Chantelot, Silvia Cereghini

    出版 2004
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  20. 20
    Two mutations in human BICC1 resulting in Wnt pathway hyperactivity associated with cystic renal dysplasia

    Two mutations in human BICC1 resulting in Wnt pathway hyperactivity associated with cystic renal dysplasia 由 Marine R.-C. Kraus, Séverine Clauin, Yvan Pfister, Massimo Di Maïo, Tim Ulinski, Daniel B. Constam, Christine Bellanné‐Chantelot, Anne Grapin‐Botton

    出版 2011
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