Christine Bellanne-Chantelot

Summary

Country: France

Publications

  1. pmc New evidence of a mitochondrial genetic background paradox: impact of the J haplogroup on the A3243G mutation
    Denis Pierron
    1Université Bordeaux 1, Laboratoire d Anthropologie des Populations du Passé, UMR 5199 PACEA, 33400 Talence, France
    BMC Med Genet 9:41. 2008
  2. ncbi Mutations in the ELA2 gene correlate with more severe expression of neutropenia: a study of 81 patients from the French Neutropenia Register
    Christine Bellanne-Chantelot
    Hopital Saint Antoine, Laboratoire de d Embryologie Pathologique et de Cytogénétique, 184 rue du Fbg Saint Antoine, 75012 Paris, France
    Blood 103:4119-25. 2004
  3. ncbi Clinical spectrum associated with hepatocyte nuclear factor-1beta mutations
    Christine Bellanne-Chantelot
    Fédération des Services de Biochimie, Laboratoire de Biologie Moleculaire, Hopital Saint Antoine, Paris, France
    Ann Intern Med 140:510-7. 2004
  4. ncbi Genetic and clinical implications of the Val617Phe JAK2 mutation in 72 families with myeloproliferative disorders
    Christine Bellanne-Chantelot
    Assistance Publique Hôpitaux de Paris AP HP Saint Antoine, Department of Cytogenetics, Paris, France
    Blood 108:346-52. 2006
  5. ncbi Large genomic rearrangements in the hepatocyte nuclear factor-1beta (TCF2) gene are the most frequent cause of maturity-onset diabetes of the young type 5
    Christine Bellanne-Chantelot
    Department of Cytogenetics and Molecular Biology, Hopital Saint Antoine, Assistance Publique Hopitaux de Paris, Paris, France
    Diabetes 54:3126-32. 2005
  6. ncbi Germline hepatocyte nuclear factor 1alpha and 1beta mutations in renal cell carcinomas
    Sandra Rebouissou
    INSERM U674, CEPH, IUH Saint Louis, Paris, France
    Hum Mol Genet 14:603-14. 2005
  7. ncbi The N363S polymorphism in the glucocorticoid receptor gene is associated with overweight in subjects with type 2 diabetes mellitus
    Ronan Roussel
    Service d immunologie clinique, Hopital Necker Enfants Malades, Paris, France
    Clin Endocrinol (Oxf) 59:237-41. 2003
  8. ncbi Diagnosis and management of maturity-onset diabetes of the young
    Jose Timsit
    Department of Immunology and Diabetology, Hopital Cochin, Paris, France
    Treat Endocrinol 4:9-18. 2005
  9. ncbi A polymorphism in the promoter of UCP2 gene modulates lipid levels in patients with type 2 diabetes
    Andre F Reis
    INSERM Unit 561, Hopital Saint Vincent de Paul, Paris, France
    Mol Genet Metab 82:339-44. 2004
  10. ncbi Analysis of risk factors for myelodysplasias, leukemias and death from infection among patients with congenital neutropenia. Experience of the French Severe Chronic Neutropenia Study Group
    Jean Donadieu
    Service d hémato oncologie pédiatrique, Hopital Trousseau, Paris, France
    Haematologica 90:45-53. 2005

Detail Information

Publications28

  1. pmc New evidence of a mitochondrial genetic background paradox: impact of the J haplogroup on the A3243G mutation
    Denis Pierron
    1Université Bordeaux 1, Laboratoire d Anthropologie des Populations du Passé, UMR 5199 PACEA, 33400 Talence, France
    BMC Med Genet 9:41. 2008
    ....
  2. ncbi Mutations in the ELA2 gene correlate with more severe expression of neutropenia: a study of 81 patients from the French Neutropenia Register
    Christine Bellanne-Chantelot
    Hopital Saint Antoine, Laboratoire de d Embryologie Pathologique et de Cytogénétique, 184 rue du Fbg Saint Antoine, 75012 Paris, France
    Blood 103:4119-25. 2004
    ....
  3. ncbi Clinical spectrum associated with hepatocyte nuclear factor-1beta mutations
    Christine Bellanne-Chantelot
    Fédération des Services de Biochimie, Laboratoire de Biologie Moleculaire, Hopital Saint Antoine, Paris, France
    Ann Intern Med 140:510-7. 2004
    ..Various phenotypes, including urogenital malformations, are related to HNF-1beta mutations...
  4. ncbi Genetic and clinical implications of the Val617Phe JAK2 mutation in 72 families with myeloproliferative disorders
    Christine Bellanne-Chantelot
    Assistance Publique Hôpitaux de Paris AP HP Saint Antoine, Department of Cytogenetics, Paris, France
    Blood 108:346-52. 2006
    ..The analysis of the hematologic profile showed that the homozygous JAK2 mutation confers a proliferative advantage and is associated with the progression of the hematologic disease...
  5. ncbi Large genomic rearrangements in the hepatocyte nuclear factor-1beta (TCF2) gene are the most frequent cause of maturity-onset diabetes of the young type 5
    Christine Bellanne-Chantelot
    Department of Cytogenetics and Molecular Biology, Hopital Saint Antoine, Assistance Publique Hopitaux de Paris, Paris, France
    Diabetes 54:3126-32. 2005
    ..In addition, other MODY genes should be screened for large genomic rearrangements...
  6. ncbi Germline hepatocyte nuclear factor 1alpha and 1beta mutations in renal cell carcinomas
    Sandra Rebouissou
    INSERM U674, CEPH, IUH Saint Louis, Paris, France
    Hum Mol Genet 14:603-14. 2005
    ..Furthermore, we suggest that HNF1beta functions as a tumor suppressor gene in chromophobe renal cell carcinogenesis through a PKHD1 expression control...
  7. ncbi The N363S polymorphism in the glucocorticoid receptor gene is associated with overweight in subjects with type 2 diabetes mellitus
    Ronan Roussel
    Service d immunologie clinique, Hopital Necker Enfants Malades, Paris, France
    Clin Endocrinol (Oxf) 59:237-41. 2003
    ..Here, we investigated the impact of this variant on traits related to obesity and hyperglycaemia in subjects with type 2 diabetes mellitus...
  8. ncbi Diagnosis and management of maturity-onset diabetes of the young
    Jose Timsit
    Department of Immunology and Diabetology, Hopital Cochin, Paris, France
    Treat Endocrinol 4:9-18. 2005
    ..Thus, the diagnosis of MODY should be raised in various clinical circumstances. Molecular diagnosis has important consequences in terms of prognosis, family screening, and therapy...
  9. ncbi A polymorphism in the promoter of UCP2 gene modulates lipid levels in patients with type 2 diabetes
    Andre F Reis
    INSERM Unit 561, Hopital Saint Vincent de Paul, Paris, France
    Mol Genet Metab 82:339-44. 2004
    ..The implications of this effect in the evolution of type 2 diabetes and its macrovascular complications deserve to be investigated...
  10. ncbi Analysis of risk factors for myelodysplasias, leukemias and death from infection among patients with congenital neutropenia. Experience of the French Severe Chronic Neutropenia Study Group
    Jean Donadieu
    Service d hémato oncologie pédiatrique, Hopital Trousseau, Paris, France
    Haematologica 90:45-53. 2005
    ..Granulocyte colony-stimulating factor (G-CSF) therapy has significantly reduced the frequency and severity of infections, but its possible influence on the risk of malignancy is not known...
  11. ncbi Coexistence in the same family of both focal and diffuse forms of hyperinsulinism
    Vassili Valayannopoulos
    Department of Metabolic Disorders, Hopital Necker Enfants Malades, Paris, France
    Diabetes Care 30:1590-2. 2007
  12. doi Epidemiology of congenital neutropenia
    Jean Donadieu
    Service d Hémato Oncologie Pédiatrique Registre des neutropénies congénitales, Assistance Publique Hopitaux de Paris, Hopital Trousseau 26 Avenue du Dr Netter, Paris F 75012, France
    Hematol Oncol Clin North Am 27:1-17, vii. 2013
    ..The rate of infection and leukemia risk can now be calculated. Risk factors for leukemia seem to depend on both the genetic background and cumulative dose of granulocyte colony stimulating factor...
  13. ncbi Association of CYP1B1 germ line mutations with hepatocyte nuclear factor 1alpha-mutated hepatocellular adenoma
    Emmanuelle Jeannot
    INSERM, U674, Génomique fonctionnelle des tumeurs solides, Paris, France
    Cancer Res 67:2611-6. 2007
    ..In conclusion, our data suggested that CYP1B1 germ line-inactivating mutations might increase the incidence of HCA in women with HNF1alpha mutations...
  14. doi [Granulopoeisis and leukemogenesis: lessons from congenital neutropenia]
    Jean Donadieu
    Service d hémato oncologie pédiatrique, Registre français des neutropénies congénitales, Hopital Trousseau, 26 avenue du Docteur Arnold Netter, 75012 Paris, France
    Med Sci (Paris) 24:284-9. 2008
    ..Leukemia risk does not appear to be related to an oncogenic effect of ELA2 mutations, but much likely to the deepness of the neutropenia, and the intensity of G-CSF therapy...
  15. ncbi Long term follow up of 93 families with myeloproliferative neoplasms: life expectancy and implications of JAK2V617F in the occurrence of complications
    Sandra Malak
    Department of Hematology, Assistance Publique Hôpitaux de Paris AP HP Saint Antoine, Universite Pierre et Marie Curie, Paris, France
    Blood Cells Mol Dis 49:170-6. 2012
    ..Finally whereas patients with familial PV and ET have a comparable prognosis to non-familial MPN, the JAK2(V617F) mutation was associated with a more frequent occurrence of thrombosis in the entire population...
  16. pmc Classification of and risk factors for hematologic complications in a French national cohort of 102 patients with Shwachman-Diamond syndrome
    Jean Donadieu
    AP HP Registre Français des Neutropénies Congénitales, Hopital Trousseau, Service d hémato oncologie pédiatrique, APHP, Paris, France
    Haematologica 97:1312-9. 2012
    ..The aim of this study was to classify the hematologic complications occurring in patients with Shwachman-Diamond syndrome and to investigate the risk factors for these complications...
  17. pmc Mutations in UCP2 in congenital hyperinsulinism reveal a role for regulation of insulin secretion
    M Mar González-Barroso
    Université Paris Descartes Site Necker enfants Malades, CNRS UPR 9078 BIOTRAM, Paris, France
    PLoS ONE 3:e3850. 2008
    ..Our results show for the first time a direct association between UCP2 amino acid alteration and human disease and highlight a role for mitochondria in hormone secretion...
  18. doi Analysis of the ten-eleven translocation 2 (TET2) gene in familial myeloproliferative neoplasms
    Cécile Saint-Martin
    Department of Genetics, Assistance Publique Hopitaux de Paris AP HP Groupe Hospitalier Pitié Salpétrière, Universite Pierre et Marie Curie, Paris, France
    Blood 114:1628-32. 2009
    ..TET2 mutations were mainly observed (10 of 12) in patients with primary myelofibrosis or patients with polycythemia vera or essential thrombocythemia who secondarily evolved toward myelofibrosis or acute myeloid leukemia...
  19. ncbi Anomalies of the TCF2 gene are the main cause of fetal bilateral hyperechogenic kidneys
    Stephane Decramer
    INSERM, U858, BP 84225, F 3142, Paris, France
    J Am Soc Nephrol 18:923-33. 2007
    ..Extrarenal manifestations are frequent in TCF2-linked pathologies. Therefore, prenatal counseling and follow-up should be multidisciplinary...
  20. ncbi Renal phenotypes related to hepatocyte nuclear factor-1beta (TCF2) mutations in a pediatric cohort
    Tim Ulinski
    Department of Pediatric Nephrology, AP HP, Hopital Armand Trousseau, 26 Avenue du Docteur Netter, Paris 75571, France
    J Am Soc Nephrol 17:497-503. 2006
    ..These findings have important implications in the diagnosis of patients with renal dysplasia with cysts and their follow-up...
  21. ncbi Infantile spasms as an epileptic feature of DEND syndrome associated with an activating mutation in the potassium adenosine triphosphate (ATP) channel, Kir6.2
    Nadia Bahi-Buisson
    Department of Paediatric Neurology and Metabolic Disease, Hopital Necker Enfants Malades, Paris, France
    J Child Neurol 22:1147-50. 2007
    ..However, the child still exhibited severe encephalopathy and died of aspiration pneumonia. The role of oral sulfonylurea as an anticonvulsant in DEND syndrome associated with Kir6.2 mutation is discussed...
  22. ncbi Cystic kidney disease, chromophobe renal cell carcinoma and TCF2 (HNF1 beta) mutations
    Gaetan Lebrun
    Universite Paris Descartes, Faculte de Medecine, AP HP, Hopital Necker Enfants Malades, Paris, France
    Nat Clin Pract Nephrol 1:115-9. 2005
    ..One of the proband's two sons had hyperechogenic kidneys and the other had renal cortical microcysts. Her 71-year-old mother had mild renal failure and small renal cysts...
  23. pmc Congenital hyperinsulinism: current trends in diagnosis and therapy
    Jean Baptiste Arnoux
    Centre de Référence des Maladies Héréditaires du Métabolisme de l Enfant et l Adulte, AP HP Hôpital Necker Enfants Malades, Universite Paris Descartes, Paris, France
    Orphanet J Rare Dis 6:63. 2011
    ..By contrast, the long-term outcome of diffuse HI after subtotal pancreatectomy is characterized by a high risk of diabetes, but the time of its onset is hardly predictable...
  24. doi KATP channel mutations in congenital hyperinsulinism
    Cécile Saint-Martin
    Department of Genetics, AP HP Hopital Pitie Salpetriere, Universite Pierre et Marie Curie, Paris, France
    Semin Pediatr Surg 20:18-22. 2011
    ..Some patients with diffuse forms also carried a single K(ATP) channel mutation. In contrast, K(ATP) mutations are involved in 15% of diazoxide-responsive CHI cases that are either sporadic or dominantly inherited...
  25. doi Clinical characteristics and diagnostic criteria of maturity-onset diabetes of the young (MODY) due to molecular anomalies of the HNF1A gene
    Christine Bellanne-Chantelot
    Department of Genetics, Assistance Publique Hopitaux de Paris, Pitie Salpetriere Hospital, University Pierre et Marie Curie Paris 6, 75013 Paris, France
    J Clin Endocrinol Metab 96:E1346-51. 2011
    ..The diagnosis of maturity-onset diabetes of the young type 3 (MODY3), associated with HNF1A molecular abnormalities, is often missed...
  26. doi Childhood onset diabetes posttransplant in a girl with TCF2 mutation
    Elena Tudorache
    Department of Pediatric Nephrology, Armand Trousseau Hospital, AP HP, Paris, France University Pierre et Marie Curie UPMC, Paris, 6, France
    Pediatr Diabetes 13:e35-9. 2012
    ..TCF2 analysis might, therefore, be of interest in patients with congenital abnormalities of the kidney and the urinary tract in order to improve posttransplant management in terms of steroid and tacrolimus exposure...
  27. doi Autism in three patients with cystic or hyperechogenic kidneys and chromosome 17q12 deletion
    Chantal Loirat
    Department of Pediatric Nephrology, Assistance Publique Hopitaux de Paris, Hopital Robert Debre, Universite Paris Diderot, Paris, France
    Nephrol Dial Transplant 25:3430-3. 2010
    ..We report autism in 3 out of 53 children with cystic or hyperechogenic kidneys and heterozygous 17q12 region deletion encompassing hepatocyte nuclear factor-1beta (HNF1B)...
  28. pmc 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)
    Delphine Martin
    Department of Pediatric Diabetology, AP HP Hôpital Necker Enfants Malades, Paris, France
    Diabetes Care 31:1321-3. 2008
    ..We investigated the natural history of glucokinase (GCK)-related maturity-onset diabetes of the young type 2 (MODY2), notably the factors associated with deterioration of hyperglycemia over time...