Search Results - Christine Bellanné‐Chantelot

Refine Results
  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 by Christine Bellanné‐Chantelot

    Published 2004
    Get full text
    Artigo
    Save to List
    Saved in:
  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 by Christine Bellanné‐Chantelot

    Published 2006
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  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 by Sian Ellard, Christine Bellanné‐Chantelot, Andrew T. Hattersley

    Published 2008
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  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 by Jean Donadieu, Blandine Beaupain, Odile Fenneteau, Christine Bellanné‐Chantelot

    Published 2017
    Get full text Get full text
    Revisão
    Save to List
    Saved in:
  5. 5
    Congenital neutropenia: diagnosis, molecular bases and patient management

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

    Published 2011
    Get full text Get full text
    Revisão
    Save to List
    Saved in:
  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 by Kevin Colclough, Christine Bellanné‐Chantelot, Cécile Saint‐Martin, Sarah E. Flanagan, Sian Ellard

    Published 2013
    Get full text
    Artigo
    Save to List
    Saved in:
  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 by Chantal Loirat, Christine Bellanné‐Chantelot, Isabelle Husson, Georges Deschênes, Vincent Guigonis, Nadia Chabane

    Published 2010
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  8. 8
    Genetic Alterations of the Thrombopoietin/MPL/JAK2 Axis Impacting Megakaryopoiesis

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

    Published 2017
    Get full text Get full text
    Revisão
    Save to List
    Saved in:
  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 by WZ Ye, AF Reis, Danièle Dubois‐Laforgue, Christine Bellanné‐Chantelot, José Timsit, Gilberto Velho

    Published 2001
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  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) by Delphine Martin, Christine Bellanné‐Chantelot, Inge Deschamps, Philippe Froguel, Jean‐Jacques Robert, Gilberto Velho

    Published 2008
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  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... by Danièle Dubois‐Laforgue, Erika Cornu, Cécile Saint‐Martin, Joël Coste, Christine Bellanné‐Chantelot, José Timsit

    Published 2017
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  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 by Regina S. Moisés, André F. Reis, Valérie Deldrève, Antônio Roberto Chacra, Sérgio Atala Dib, Christine Bellanné‐Chantelot, Gilberto Velho

    Published 2001
    Get full text Get full text
    Carta
    Save to List
    Saved in:
  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 by Kara Osbak, Kevin Colclough, Cécile Saint‐Martin, Nicola L. Beer, Christine Bellanné‐Chantelot, Sian Ellard, Anna L. Gloyn

    Published 2009
    Get full text Get full text
    Revisão
    Save to List
    Saved in:
  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 by Rosa Barrio, Christine Bellanné‐Chantelot, J.C. Moreno, Valérie Deldrève, H. Calle, M.J. Costa Alonso, C. Mustieles

    Published 2002
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  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... by Sarah E. Flanagan, Séverine Clauin, Christine Bellanné‐Chantelot, Pascale de Lonlay, Lorna W. Harries, Anna L. Gloyn, Sian Ellard

    Published 2008
    Get full text
    Revisão
    Save to List
    Saved in:
  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 by Xavier Donath, Cécile Saint‐Martin, Danièle Dubois‐Laforgue, Ramanan Rajasingham, F. Mifsud, Cécile Ciangura, José Timsit, Christine Bellanné‐Chantelot

    Published 2019
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  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 by Christine Sempoux, Carmen Capito, Christine Bellanné‐Chantelot, Virginie Verkarre, Pascale de Lonlay, Y. Aigrain, C Fekete, Yves Guiot, Jacques Rahier

    Published 2011
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  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 by Stéphane Decramer, Olivier Parant, Sandrine Beaufils, Séverine Clauin, Cécile Guillou, S. Kessler, Jacqueline Aziza, Isabel Bandı́n, Joost P. Schanstra, Christine Bellanné‐Chantelot

    Published 2007
    Get full text
    Artigo
    Save to List
    Saved in:
  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 by Elena Barbacci, Angeliki Chalkiadaki, Christelle Masdeu, Cécile Haumaître, Ludmilla Lokmane, Chantal Loirat, Sylvie Cloarec, Iannis Talianidis, Christine Bellanné‐Chantelot, Silvia Cereghini

    Published 2004
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  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 by Marine R.-C. Kraus, Séverine Clauin, Yvan Pfister, Massimo Di Maïo, Tim Ulinski, Daniel B. Constam, Christine Bellanné‐Chantelot, Anne Grapin‐Botton

    Published 2011
    Get full text
    Artigo
    Save to List
    Saved in:

Search Tools: