J Rochette

Summary

Country: France

Publications

  1. doi request reprint Factors influencing disease phenotype and penetrance in HFE haemochromatosis
    J Rochette
    Universite de Picardie Jules Verne, UFR de Medecine, INSERM UMR, Amiens, France
    Hum Genet 128:233-48. 2010
  2. doi request reprint Novel familial cases of ICCA (infantile convulsions with paroxysmal choreoathetosis) syndrome
    Jacques Rochette
    Unité de Neuro Pédiatrie, Universite de Picardie Jules Verne, Amiens, France
    Epileptic Disord 12:199-204. 2010
  3. pmc Reverse cascade screening of newborns for hereditary haemochromatosis: a model for other late onset diseases?
    E Cadet
    Department of Medical Genetics and UMR INERIS, Centre Hospitalo Universitaire et Faculté de Médecine, 3 rue des Louvels, 80036, Amiens, France
    J Med Genet 42:390-5. 2005
  4. ncbi request reprint Genetics of infantile seizures with paroxysmal dyskinesia: the infantile convulsions and choreoathetosis (ICCA) and ICCA-related syndromes
    J Rochette
    INSERM U925 and Service de Génétique Médicale, Universite de Picardie Jules Verne, Amiens, France
    J Med Genet 45:773-9. 2008
  5. ncbi request reprint A 3-dimensional model building by homology of the HFE protein: molecular consequences and application to antibody development
    F Dupradeau
    Groupe de Recherche, Biomolécules et Pathologies Dégénératives, Pôle Santé, Facultes de Medecine et de Pharmacie, France
    Biochim Biophys Acta 1481:213-21. 2000
  6. ncbi request reprint [Molecular basis in hereditary haemochromatosis]
    E Cadet
    Service de génétique moléculaire médicale et UPRES EA 2629, CHU d Amiens, Universite de Picardie Jules Verne, 3, rue des Louvels, 80036 Amiens Cedex, France
    Rev Med Interne 26:393-402. 2005
  7. ncbi request reprint [Advances in iron metabolism: a transition state]
    E Cadet
    Service de génétique moléculaire médicale et UPRES EA 2629, CHU d Amiens, Universite de Picardie Jules Verne, 3, rue des Louvels, 80036 Amiens Cedex, France
    Rev Med Interne 26:315-24. 2005

Collaborators

Detail Information

Publications7

  1. doi request reprint Factors influencing disease phenotype and penetrance in HFE haemochromatosis
    J Rochette
    Universite de Picardie Jules Verne, UFR de Medecine, INSERM UMR, Amiens, France
    Hum Genet 128:233-48. 2010
    ..Consequently, understanding its regulation is the key. We conclude that the main goal now is to identify important modifiers that have a significant and unambiguous effect on iron storage...
  2. doi request reprint Novel familial cases of ICCA (infantile convulsions with paroxysmal choreoathetosis) syndrome
    Jacques Rochette
    Unité de Neuro Pédiatrie, Universite de Picardie Jules Verne, Amiens, France
    Epileptic Disord 12:199-204. 2010
    ..The identification of novel ICCA families should contribute to better knowledge regarding the clinical manifestations of ICCA syndrome as well as the search for the underlying genetic defect(s)...
  3. pmc Reverse cascade screening of newborns for hereditary haemochromatosis: a model for other late onset diseases?
    E Cadet
    Department of Medical Genetics and UMR INERIS, Centre Hospitalo Universitaire et Faculté de Médecine, 3 rue des Louvels, 80036, Amiens, France
    J Med Genet 42:390-5. 2005
    ..The objective of this study was to identify the majority of individuals at serious risk of developing HFE haemochromatosis before they developed life threatening complications...
  4. ncbi request reprint Genetics of infantile seizures with paroxysmal dyskinesia: the infantile convulsions and choreoathetosis (ICCA) and ICCA-related syndromes
    J Rochette
    INSERM U925 and Service de Génétique Médicale, Universite de Picardie Jules Verne, Amiens, France
    J Med Genet 45:773-9. 2008
    ..The aim of this review is to update genetic aspects of infantile epileptic seizures and PD and their association in the context of ICCA and ICCA related syndromes...
  5. ncbi request reprint A 3-dimensional model building by homology of the HFE protein: molecular consequences and application to antibody development
    F Dupradeau
    Groupe de Recherche, Biomolécules et Pathologies Dégénératives, Pôle Santé, Facultes de Medecine et de Pharmacie, France
    Biochim Biophys Acta 1481:213-21. 2000
    ..This study shows that a strategy based on homology modeling is sufficient to undertake biological investigations...
  6. ncbi request reprint [Molecular basis in hereditary haemochromatosis]
    E Cadet
    Service de génétique moléculaire médicale et UPRES EA 2629, CHU d Amiens, Universite de Picardie Jules Verne, 3, rue des Louvels, 80036 Amiens Cedex, France
    Rev Med Interne 26:393-402. 2005
    ..We present natural mutations in newly discovered genes and related phenotypes observed in patients with different form of haemochromatosis...
  7. ncbi request reprint [Advances in iron metabolism: a transition state]
    E Cadet
    Service de génétique moléculaire médicale et UPRES EA 2629, CHU d Amiens, Universite de Picardie Jules Verne, 3, rue des Louvels, 80036 Amiens Cedex, France
    Rev Med Interne 26:315-24. 2005
    ..Advances towards the understanding of gene regulation and protein function recently discovered through iron metabolism disorders are the subject of this review...