François M Petit
- [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...
- Glucose-6-phosphatase deficiencyRoseline 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...
- The Tunisian population history through the Crigler-Najjar type I syndromeFrançois 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...
- A new mutation in the AFP gene responsible for a total absence of alpha feto-protein on second trimester maternal serum screening for Down syndromeFrançois 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...
- Genotype-phenotype correlation in 13q13.3-q21.3 deletionLucie 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...
- Paternal isodisomy for chromosome 2 as the cause of Crigler-Najjar type I syndromeFrançois 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...
- Recurrent 70.8 Mb 4q22.2q32.3 duplication due to ovarian germinal mosaicismLucie 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...
- Klüver Bucy syndrome following hypoglycaemic coma in a patient with glycogen storage disease type IbAlix 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. ..