- [Congenital disorders of the biliary ducts]F Gauthier
Département de pédiatrie et INSERM U347 Hôpital de Bicêtre 94275 Le Kremlin Bicêtre
Rev Prat 50:2142-5. 2000..JAGGEDI gene mutations have been identified allowing prenatal diagnosis. The diagnosis of neonatal sclerosing cholangitis can only be performed by cholangiography...
- Alagille syndromeMichelle Hadchouel
INSERM U347 and Départment de Pédiatrie, Hĵpital de Bicêtre, Le Kremlin Bicetre, France
Indian J Pediatr 69:815-8. 2002..This suggests that Alagille syndrome definition may be revisited in the light of JAGGED1 mutations...
- Bleeding tendency in children with Alagille syndromePanayotis Lykavieris
Service d hépatologie pédiatrique, Hopital de Bicetre, Le Kremlin Bicetre Cedex, France
Pediatrics 111:167-70. 2003..The pathogenesis of intracranial bleeding in these patients remains unclear. The aim of the study was to look for other sites of bleeding in these patients that could suggest a factor of multiorgan morbidity...
- Mutations in JAGGED1 gene are predominantly sporadic in Alagille syndromeC Crosnier
INSERM Unité 347 affiliée au Centre National de la Recherche Scientifique, Departement de Pediatrie, Hopital de Bicetre, Le Kremlin Bicetre, France
Gastroenterology 116:1141-8. 1999..We screened a large group of patients for mutations in JAGGED1 and studied transmission of the mutations...
- Expression of mutant JAGGED1 alleles in patients with Alagille syndromeJulie Boyer
INSERM E00 20, Batiment Gregory Pincus, 80 rue du General Leclerc, 94276, Le Kremlin Bicetre Cedex, France
Hum Genet 116:445-53. 2005....
- [Alagille syndrome: from atresia of the intrahepatic bile ducts to the signaling pathway for Notch proteins]Michelle Hadchouel
AP HP et U804 Inserm, fédération de pédiatrie, Hopital de Bicetre, Le Kremlin Bicetre, France
Arch Pediatr 13:15-9. 2006
- Vascular anomalies in Alagille syndromeMichelle Hadchouel
Circulation 110:e327; author reply e327. 2004
- Efficient hepatocyte engraftment in a nonhuman primate model after partial portal vein embolizationIbrahim Dagher
Inserm U804 and University Paris XI, Kremlin Bicetre, France
Transplantation 82:1067-73. 2006..In rodents, portal ligation enhances hepatocyte engraftment after transplantation. We investigated the effects of partial portal ligation and embolization on engraftment and proliferation of transplanted hepatocytes in primates...
- Hepatocyte transplantation: studies in preclinical modelsAnne Weber
Hopital Bicetre, Inserm U 804 and University Paris XI, Le Kremlin Bicetre, France
J Inherit Metab Dis 29:436-41. 2006....
- Biological function of mutant forms of JAGGED1 proteins in Alagille syndrome: inhibitory effect on Notch signalingJulie Boyer-Di Ponio
INSERM U804, F 94276 Le Kremlin Bicetre, France
Hum Mol Genet 16:2683-92. 2007..Altogether, our results favor a dominant-negative mechanism of some JAGGED1 mutations in AGS...
- Alagille syndrome in adult patients: it is never too lateAntoine Jacquet
Department of Nephrology, AP HP, Universite Paris V, Hopital Necker, Paris
Am J Kidney Dis 49:705-9. 2007..We report 2 patients in whom AGS was diagnosed in adulthood during the workup of renal disease in the absence of a well-defined familial history. Renal disease caused by AGS probably is underdiagnosed in adult patients...
- Prenatal molecular diagnosis of inherited cholestatic diseasesCamille Jung
Pediatric Hepatology and National Reference Centre for Biliary Atresia, Bicetre Hospital, University of Paris South XI, AP HP, Paris, France
J Pediatr Gastroenterol Nutr 44:453-8. 2007..We report our experience of DNA-based prenatal diagnosis of PFIC1-3 and Alagille syndrome...
- Claudin-1 gene mutations in neonatal sclerosing cholangitis associated with ichthyosis: a tight junction diseaseSmail Hadj-Rabia
Département de génétique, Hopital Necker Enfants Malades, Paris, France
Gastroenterology 127:1386-90. 2004..We considered claudin-1 to be a strong candidate gene based on its mapping to the minimum interval and on the expression pattern of the mouse ortholog...
- Improved gene transfer selectivity to hepatocarcinoma cells by retrovirus vector displaying single-chain variable fragment antibody against c-MetTuan Huy Nguyen
INSERM EMI 00 20, Hopital A Beclere, 157 rue de la Porte de Trivaux, 92141 Clamart, France
Cancer Gene Ther 10:840-9. 2003..These results indicate that amphotropic retroviruses with engineered envelopes to display scFv directed against the c-Met receptor can efficiently and selectively deliver genes into hepatoma cells...
- Progressive familial intrahepatic cholestasis type 1 and extrahepatic features: no catch-up of stature growth, exacerbation of diarrhea, and appearance of liver steatosis after liver transplantationPanayotis Lykavieris
Department of Pediatrics, Hepatology Unit, Bicetre University Hospital, Assistance Publique Hopitaux de Paris, 78, rue du General Leclerc, 94275 Le Kremlin Bicetre, France
J Hepatol 39:447-52. 2003....
- Liver regeneration: with a little help from marrowNicolas Ferry
J Hepatol 36:695-7. 2002
- CFCI gene mutation and biliary atresia with polysplenia syndromeEmmanuel Jacquemin
J Pediatr Gastroenterol Nutr 34:326-7. 2002
- [Molecular and clinical characteristics of a family with Alagille syndrome]Angel Cosme
Servicio de Aparato Digestivo, Hospital Donostia, San Sebastian, Guipuzcoa, Spain
Med Clin (Barc) 130:17-9. 2008..Mutations of Jagged 1 gene are observed in individuals with the full syndrome and/or relatives with little or no phenotypic features. Prognosis of patients depends on the hepatic and cardiovascular involvement...