J Rochette

Summary

Country: France

Publications

  1. ncbi 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. ncbi 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. ncbi 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 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 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 [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 [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. ncbi 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. ncbi 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. ncbi 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 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 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 [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
    ..FUTURE PROSPECTS AND PROJECTS: Other modifier genes probably influence penetrance in C282Y homozygous patients. Such genes could enhance or reduce the phenotypic expression in various iron overload conditions...
  7. ncbi [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
    ..Gene expression studies using microarrays technology in different iron conditions should help to explore iron homeostasis further...