François M Petit

Summary

Country: France

Publications

  1. doi request reprint [Construction and validation of an evaluation tool of sexual health using self-administered questionnaires for an application to metabolic diseases]
    F Petit
    Laboratoire de génétique moléculaire des maladies métaboliques, Hopital Antoine Beclere, 157, rue de la Porte de Trivaux, 92141 Clamart Cedex, France
    Prog Urol 23:210-8. 2013
  2. pmc Glucose-6-phosphatase deficiency
    Roseline Froissart
    Centre de Référence Maladies Héréditaires du Métabolisme Hépatique, Service de Pediatrie, APHP, Clamart Cedex, France
    Orphanet J Rare Dis 6:27. 2011
  3. doi request reprint The Tunisian population history through the Crigler-Najjar type I syndrome
    François M Petit
    Department of Biochemistry, Antoine Beclere Hospital, Universite Paris Sud, UFR Kremlin Bicêtre, Clamart Cedex, France
    Eur J Hum Genet 16:848-53. 2008
  4. pmc A new mutation in the AFP gene responsible for a total absence of alpha feto-protein on second trimester maternal serum screening for Down syndrome
    François M Petit
    Department of Biochemistry, Hormonology and Genetics, Antoine Béclère Hospital AP HP, Universite Paris Sud, Clamart, France
    Eur J Hum Genet 17:387-90. 2009
  5. doi request reprint Genotype-phenotype correlation in 13q13.3-q21.3 deletion
    Lucie Tosca
    AP HP, Histologie Embryologie Cytogénétique, Hopital Antoine Beclere, France
    Eur J Med Genet 54:e489-94. 2011
  6. ncbi request reprint Paternal isodisomy for chromosome 2 as the cause of Crigler-Najjar type I syndrome
    François M Petit
    Service de Biochimie et Hormonologie, Hopital Antoine Beclere, Clamart, France
    Eur J Hum Genet 13:278-82. 2005
  7. pmc Recurrent 70.8 Mb 4q22.2q32.3 duplication due to ovarian germinal mosaicism
    Lucie Tosca
    AP HP, Histologie, Embryologie et Cytogenetique, Hopital Antoine Beclere, 157 rue de la Porte de Trivaux, Clamart Cedex, France
    Eur J Hum Genet 18:882-8. 2010
  8. doi request reprint Klüver Bucy syndrome following hypoglycaemic coma in a patient with glycogen storage disease type Ib
    Alix Mollet Boudjemline
    APHP, Service de Pediatrie, Hopital Antoine Beclere, Clamart, France
    J Inherit Metab Dis 33:S477-80. 2010

Collaborators

Detail Information

Publications8

  1. doi request reprint [Construction and validation of an evaluation tool of sexual health using self-administered questionnaires for an application to metabolic diseases]
    F Petit
    Laboratoire de génétique moléculaire des maladies métaboliques, Hopital Antoine Beclere, 157, rue de la Porte de Trivaux, 92141 Clamart Cedex, France
    Prog Urol 23:210-8. 2013
    ..To elaborate and validate in general population a survey built with self-administered questionnaires in French about evaluation of sexual health for an application to men and women with metabolic disease...
  2. pmc Glucose-6-phosphatase deficiency
    Roseline Froissart
    Centre de Référence Maladies Héréditaires du Métabolisme Hépatique, Service de Pediatrie, APHP, Clamart Cedex, France
    Orphanet J Rare Dis 6:27. 2011
    ..DISEASE NAME AND SYNONYMS: Glucose-6-phosphatase deficiency or G6P deficiency or glycogen storage disease type I or GSDI or type I glycogenosis or Von Gierke disease or Hepatorenal glycogenosis...
  3. doi request reprint The Tunisian population history through the Crigler-Najjar type I syndrome
    François M Petit
    Department of Biochemistry, Antoine Beclere Hospital, Universite Paris Sud, UFR Kremlin Bicêtre, Clamart Cedex, France
    Eur J Hum Genet 16:848-53. 2008
    ..After population migration from east to west, this mutation was introduced into the Tunisian population, and then perpetuated, probably because of marriages in isolated communities...
  4. pmc A new mutation in the AFP gene responsible for a total absence of alpha feto-protein on second trimester maternal serum screening for Down syndrome
    François M Petit
    Department of Biochemistry, Hormonology and Genetics, Antoine Béclère Hospital AP HP, Universite Paris Sud, Clamart, France
    Eur J Hum Genet 17:387-90. 2009
    ..This observation emphasizes the complex molecular mechanisms of compensation of serum protein deficiency. Studies on other families with AFP deficiency are necessary to confirm this observation...
  5. doi request reprint Genotype-phenotype correlation in 13q13.3-q21.3 deletion
    Lucie Tosca
    AP HP, Histologie Embryologie Cytogénétique, Hopital Antoine Beclere, France
    Eur J Med Genet 54:e489-94. 2011
    ..This study underlines also that cytogenetic analysis could be performed in patients with overgrowth...
  6. ncbi request reprint Paternal isodisomy for chromosome 2 as the cause of Crigler-Najjar type I syndrome
    François M Petit
    Service de Biochimie et Hormonologie, Hopital Antoine Beclere, Clamart, France
    Eur J Hum Genet 13:278-82. 2005
    ..This report demonstrates that uniparental disomy may be at the origin of very rare diseases transmitted as autosomal recessive traits and emphasizes the need for parental DNA analysis in such cases...
  7. pmc Recurrent 70.8 Mb 4q22.2q32.3 duplication due to ovarian germinal mosaicism
    Lucie Tosca
    AP HP, Histologie, Embryologie et Cytogenetique, Hopital Antoine Beclere, 157 rue de la Porte de Trivaux, Clamart Cedex, France
    Eur J Hum Genet 18:882-8. 2010
    ..This is the first description of germinal mosaicism for a large chromosomal duplication and highlights that genetic counselling for apparently de novo chromosome aberration should be undertaken with care...
  8. doi request reprint Klüver Bucy syndrome following hypoglycaemic coma in a patient with glycogen storage disease type Ib
    Alix Mollet Boudjemline
    APHP, Service de Pediatrie, Hopital Antoine Beclere, Clamart, France
    J Inherit Metab Dis 33:S477-80. 2010
    ..In this case report, we describe the development of Klüver Bucy syndrome in a 28-year-old man with type Ib GSD, following prolonged and severe hypoglycaemia triggered by a common respiratory infection. ..