Irina Giurgea

Summary

Country: France

Publications

  1. ncbi request reprint The Knudson's two-hit model and timing of somatic mutation may account for the phenotypic diversity of focal congenital hyperinsulinism
    Irina Giurgea
    INSERM U654, and Department of Genetics, Hopital Henri Mondor, 51 Avenue du Marechal de Lattre de Tassigny, 94010 Creteil Cedex, France
    J Clin Endocrinol Metab 91:4118-23. 2006
  2. ncbi request reprint Molecular mechanisms of neonatal hyperinsulinism
    Irina Giurgea
    INSERM U654 and Department of Genetics, Hopital Henri Mondor, Creteil, France
    Horm Res 66:289-96. 2006
  3. doi request reprint TCF4 deletions in Pitt-Hopkins Syndrome
    Irina Giurgea
    INSERM U841, IMRB, Département de génétique, Equipe 11, Creteil, F 94000, France
    Hum Mutat 29:E242-51. 2008
  4. pmc Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4
    Nadege Bondurand
    INSERM U841, Institut Mondor de Recherche Biomedicale, Département de génétique, Universite Paris 12, Paris, France
    Am J Hum Genet 81:1169-85. 2007
  5. ncbi request reprint Factitious hyperinsulinism leading to pancreatectomy: severe forms of Munchausen syndrome by proxy
    Irina Giurgea
    Department of Metabolic Disorders, Hopital Necker Enfants Malades, 75015 Paris, France
    Pediatrics 116:e145-8. 2005
  6. ncbi request reprint Congenital hyperinsulinism: pancreatic [18F]fluoro-L-dihydroxyphenylalanine (DOPA) positron emission tomography and immunohistochemistry study of DOPA decarboxylase and insulin secretion
    Pascale de Lonlay
    Departement de Pediatrie, Hopital Necker Enfants Malades, Universite Paris Descartes, Faculte de Medecine, 149 rue de Sevres, 75743 Paris Cedex 15, France
    J Clin Endocrinol Metab 91:933-40. 2006
  7. ncbi request reprint Hyperinsulinemic hypoglycemia in children
    P de Lonlay
    Necker Hospital, Paris, France
    Ann Endocrinol (Paris) 65:96-8. 2004
  8. ncbi request reprint Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome with renal failure: impact of posttransplant immunosuppression on disease activity
    Tim Ulinski
    Department of Pediatric Nephrology, Hopital Trousseau, 75571 Paris Cedex 12, France
    J Clin Endocrinol Metab 91:192-5. 2006
  9. ncbi request reprint Respiratory chain deficiency in a female with Aicardi-Goutières syndrome
    Christine Barnerias
    Department of Paediatrics, Hopital Necker Enfants Malades, Paris, France
    Dev Med Child Neurol 48:227-30. 2006
  10. ncbi request reprint Respiratory chain defects may present only with hypoglycemia
    Fanny Mochel
    Service des Maladies Métaboliques, Hopital Necker Enfants Malades, 149 rue de Sevres, Paris 75015, France
    J Clin Endocrinol Metab 90:3780-5. 2005

Detail Information

Publications12

  1. ncbi request reprint The Knudson's two-hit model and timing of somatic mutation may account for the phenotypic diversity of focal congenital hyperinsulinism
    Irina Giurgea
    INSERM U654, and Department of Genetics, Hopital Henri Mondor, 51 Avenue du Marechal de Lattre de Tassigny, 94010 Creteil Cedex, France
    J Clin Endocrinol Metab 91:4118-23. 2006
    ..5. Plurifocal or large forms of focal CHI are a cause of apparent failure of surgery, and their underlying mechanism has not been thoroughly investigated...
  2. ncbi request reprint Molecular mechanisms of neonatal hyperinsulinism
    Irina Giurgea
    INSERM U654 and Department of Genetics, Hopital Henri Mondor, Creteil, France
    Horm Res 66:289-96. 2006
    ..However, secondary causes of hyperinsulinism have to be considered such as fatty acid oxidation deficiency, congenital disorders of glycosylation and factitious hypoglycaemia secondary to Munchausen by proxy syndrome...
  3. doi request reprint TCF4 deletions in Pitt-Hopkins Syndrome
    Irina Giurgea
    INSERM U841, IMRB, Département de génétique, Equipe 11, Creteil, F 94000, France
    Hum Mutat 29:E242-51. 2008
    ..In this report, we also further specify the phenotypic spectrum of PHS, enlarged to behavior, with aim to increase the rate and specificity of PHS diagnosis...
  4. pmc Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4
    Nadege Bondurand
    INSERM U841, Institut Mondor de Recherche Biomedicale, Département de génétique, Universite Paris 12, Paris, France
    Am J Hum Genet 81:1169-85. 2007
    ..This study further characterizes the molecular complexity and the close relationship that links the different subtypes of WS...
  5. ncbi request reprint Factitious hyperinsulinism leading to pancreatectomy: severe forms of Munchausen syndrome by proxy
    Irina Giurgea
    Department of Metabolic Disorders, Hopital Necker Enfants Malades, 75015 Paris, France
    Pediatrics 116:e145-8. 2005
    ..One percent (2 of 250) of all cases of hyperinsulinemic hypoglycemia in our unit have been identified as Munchausen syndrome by proxy. Atypical disease history should raise the question of factitious hypoglycemia...
  6. ncbi request reprint Congenital hyperinsulinism: pancreatic [18F]fluoro-L-dihydroxyphenylalanine (DOPA) positron emission tomography and immunohistochemistry study of DOPA decarboxylase and insulin secretion
    Pascale de Lonlay
    Departement de Pediatrie, Hopital Necker Enfants Malades, Universite Paris Descartes, Faculte de Medecine, 149 rue de Sevres, 75743 Paris Cedex 15, France
    J Clin Endocrinol Metab 91:933-40. 2006
    ..Preoperative differential diagnosis was based on pancreatic venous sampling, a technically demanding technique...
  7. ncbi request reprint Hyperinsulinemic hypoglycemia in children
    P de Lonlay
    Necker Hospital, Paris, France
    Ann Endocrinol (Paris) 65:96-8. 2004
  8. ncbi request reprint Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome with renal failure: impact of posttransplant immunosuppression on disease activity
    Tim Ulinski
    Department of Pediatric Nephrology, Hopital Trousseau, 75571 Paris Cedex 12, France
    J Clin Endocrinol Metab 91:192-5. 2006
    ..APECED's first manifestation generally is mucocutaneous candidiasis presumably related to T cell dysfunction...
  9. ncbi request reprint Respiratory chain deficiency in a female with Aicardi-Goutières syndrome
    Christine Barnerias
    Department of Paediatrics, Hopital Necker Enfants Malades, Paris, France
    Dev Med Child Neurol 48:227-30. 2006
    ..We suggest giving consideration to systematic evaluation of the mitochondrial respiratory chain in skeletal muscle and skin fibroblasts of other AGS patients...
  10. ncbi request reprint Respiratory chain defects may present only with hypoglycemia
    Fanny Mochel
    Service des Maladies Métaboliques, Hopital Necker Enfants Malades, 149 rue de Sevres, Paris 75015, France
    J Clin Endocrinol Metab 90:3780-5. 2005
    ....
  11. ncbi request reprint Neonatal hypoglycaemia: aetiologies
    Pascale de Lonlay
    Department of Paediatrics, Hopital Necker Enfants Malades, 149 rue de Sevres, 75743 Paris Cedex 15, France
    Semin Neonatol 9:49-58. 2004
    ..Other causes of hypoglycaemia have also been identified recently, namely glucose transporter disorders, respiratory chain disorders and congenital disorders of glycosylation...
  12. ncbi request reprint Acute insulin responses to calcium and tolbutamide do not differentiate focal from diffuse congenital hyperinsulinism
    Irina Giurgea
    Department of Pediatrics, Hopital Necker Enfants Malades, 75743 Paris, France
    J Clin Endocrinol Metab 89:925-9. 2004
    ..We conclude that AIRs to calcium and tolbutamide stimulation tests are not sufficient to differentiate the focal from the diffuse CHI patients...