CRAVB

Le Centre National de Référence de l'Atrésie des Voies Biliaires est situé au CHU Bicêtre dans le Service d’Hépatologie et de Transplantation Hépatique Pédiatriques au sein du pôle Maladies du Foie de l’Appareil Digestif et Urinaire (MFADU)

Plus d'informations sur le centre de référence

Courcet JB, Minello A, Prieur F, Morisse L, Phelip JM, Beurdeley A, Meynard D,Massenet D, Lacassin F, Duffourd Y, Gigot N, St-Onge J, Hillon P, Vanlemmens C,Mousson C, Cerceuil JP, Guiu B, Thevenon J, Thauvin-Robinet C, Jacquemin E,Rivière JB, Michel-Calemard L, Faivre L. Compound heterozygous PKHD1 variants cause a wide spectrum of ductal plate malformations. Am J Med Genet A. 2015 Sep.

Southgate L, Sukalo M, Karountzos AS, Taylor EJ, Collinson CS, Ruddy D, Snape KM, Dallapiccola B, Tolmie JL, Joss S, Brancati F, Digilio MC, Graul-Neumann LM, Salviati L, Coerdt W, Jacquemin E, Wuyts W, Zenker M, Machado RD, Trembath RC. Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies. Circ Cardiovasc Genet. 2015 Aug;8(4):572-81.

Agnès Linglart, Emmanuel Gonzales. « Conséquences osseuses des maladies chroniques cholestatiques du foie ». Pathologies phosphocalciques et osseuses de l’enfant. 2015. Chap. 54, 235-238

Ecochard-Dugelay E, Lambert V, Schleich JM, Duché M, Jacquemin E, Bernard O. Portopulmonary Hypertension in Liver Disease Presenting in Childhood. J Pediatr
Gastroenterol Nutr. 2015 Sep;61(3):346-54.

Gonzales E, Grosse B, Schuller B, Davit-Spraul A, Conti F, Guettier C, Cassio D, Jacquemin E. Targeted pharmacotherapy in progressive familial intrahepatic cholestasis type 2: Evidence for improvement of cholestasis with 4-phenylbutyrate. Hepatology. 2015 Aug;62(2):558-66.

Davit-Spraul A, Oliveira C, Gonzales E, Gaignard P, Thérond P, Jacquemin E. Liver transcript analysis reveals aberrant splicing due to silent and intronic variations in the ABCB11 gene. Mol Genet Metab. 2014 Nov;113(3):225-9.

Lanternier F, Barbati E, Meinzer U, Liu L, Pedergnana V, Migaud M, Héritier S, Chomton M, Frémond ML, Gonzales E, Galeotti C, Romana S, Jacquemin E, Angoulvant A, Bidault V, Canioni D, Lachenaud J, Mansouri D, Mahdaviani SA, Adimi P, Mansouri N, Jamshidi M, Bougnoux ME, Abel L, Lortholary O, Blanche S, Casanova JL, Picard C, Puel A. Inherited CARD9 deficiency in 2 unrelated patients with
invasive Exophiala infection. J Infect Dis. 2015 Apr 15;211(8):1241-50.

Rivet C, Leverger G, Jacquemin E, Bernard O. Acute leukemia presenting as acute hepatitis without liver failure. J Pediatr Gastroenterol Nutr. 2014 Nov;59(5):640-1.

Franchi-Abella S, Fabre M, Mselati E, De Marsillac ME, Bayari M, Pariente D, Jacquemin E, Bernard O. Obliterative portal venopathy: a study of 48 children. J Pediatr. 2014 Jul;165(1):190-193.e2.

Descatoire M, Weller S, Irtan S, Sarnacki S, Feuillard J, Storck S,
Guiochon-Mantel A, Bouligand J, Morali A, Cohen J, Jacquemin E, Iascone M,
Bole-Feysot C, Cagnard N, Weill JC, Reynaud CA. Identification of a human splenic marginal zone B cell precursor with NOTCH2-dependent differentiation properties. J Exp Med. 2014 May 5;211(5):987-1000.

Girard M, Lacaille F, Verkarre V, Mategot R, Feldmann G, Grodet A, Sauvat F, Irtan S, Davit-Spraul A, Jacquemin E, Ruemmele F, Rainteau D, Goulet O, Colomb V,Chardot C, Henrion-Caude A, Debray D. MYO5B and bile salt export pump contribute to cholestatic liver disorder in microvillous inclusion disease. Hepatology. 2014 Jul;60(1):301-10.

Davit-Spraul A, Beinat M, Debray D, Rötig A, Slama A, Jacquemin E. Secondary Mitochondrial Respiratory Chain Defect Can Delay Accurate PFIC2 Diagnosis. JIMD Rep. 2014;14:17-21.

Guillaud O, Dumortier J, Sobesky R, Debray D, Wolf P, Vanlemmens C, Durand F, Calmus Y, Duvoux C, Dharancy S, Kamar N, Boudjema K, Bernard PH, Pageaux GP,Salamé E, Gugenheim J, Lachaux A, Habes D, Radenne S, Hardwigsen J, Chazouillères O, Trocello JM, Woimant F, Ichai P, Branchereau S, Soubrane O, Castaing D, Jacquemin E, Samuel D, Duclos-Vallée JC. Long term results of liver transplantation for Wilson's disease: experience in France. J Hepatol. 2014 Mar;60(3):579-89.

Blanc T, Guerin F, Franchi-Abella S, Jacquemin E, Pariente D, Soubrane O, Branchereau S, Gauthier F. Congenital portosystemic shunts in children: a new anatomical classification correlated with surgical strategy. Ann Surg. 2014 Jul;260(1):188-98.

Gonzales E, Spraul A, Jacquemin E. Clinical utility gene card for progressive familial intrahepatic cholestasis type 3. Eur J Hum Genet. 2014. Apr;22(4).

Gonzales E, Spraul A, Jacquemin E. Clinical utility gene card for progressive familial intrahepatic cholestasis type 1. Eur J Hum Genet. 2014. Apr;22(4).

Gonzales E, Spraul A, Jacquemin E. Clinical utility gene card for progressive familial intrahepatic cholestasis type 2. Eur J Hum Genet. 2014. Apr;22(4).

Ackermann O, Gonzales E, Keller M, Guettier C, Gissen P, Jacquemin E.. Arthrogryposis, renal dysfunction, and cholestasis syndrome caused by VIPAR mutation. J Pediatr Gastroenterol Nutr. 2014 Mar;58(3):e29-32.

Gaignard P, Gonzales E, Ackermann O, Labrune P, Correia I, Therond P, Jacquemin E, Slama A. Mitochondrial Infantile Liver Disease due to TRMU Gene Mutations: Three New Cases. JIMD Rep. 2013;11:117-23.

Bernard O, Franchi-Abella S, Branchereau S, Pariente D, Gauthier F, Jacquemin. E. Congenital portosystemic shunts in children: recognition, evaluation, and management. Semin Liver Dis. 2012 Nov;32(4):273-87.

Davit-Spraul A, Gonzales E, Jacquemin E. NR1H4 analysis in patients with progressive familial intrahepatic cholestasis, drug-induced cholestasis or intrahepatic cholestasis of pregnancy unrelated to ATP8B1, ABCB11 and ABCB4 mutations. Clin Res Hepatol Gastroenterol. 2012 Dec;36(6):569-73.

Jacquemin E. Progressive familial intrahepatic cholestasis. Clin Res Hepatol Gastroenterol. 2012 Sep;36 Suppl 1:S26-35.

Boutron A, Marabotti A, Facchiano A, Cheillan D, Zater M, Oliveira C, Costa C, Labrune P, Brivet M; French Galactosemia Working Group. Mutation spectrum in the French cohort of galactosemic patients and structural simulation of 27 novel missense variations. Mol Genet Metab. 2012 Nov;107(3):438-47.

Ghigna MR, Reineke T, Rincé P, Schüffler P, El Mchichi B, Fabre M, Jacquemin E, Durrbach A, Samuel D, Joab I, Guettier C, Lucioni M, Paulli M, Tinguely M, Raphael M. Epstein-Barr virus infection and altered control of apoptotic pathways in posttransplant lymphoproliferative disorders. Pathobiology. 2013;80(2):53-9.

Gonzales E, Grosse B, Cassio D, Davit-Spraul A, Fabre M, Jacquemin E. Successful mutation-specific chaperone therapy with 4-phenylbutyrate in a child with progressive familial intrahepatic cholestasis type 2. J Hepatol. 2012 Sep;57(3):695-8.

Ackermann O, Branchereau S, Franchi-Abella S, Pariente D, Chevret L, Debray D, Jacquemin E, Gauthier F, Hill C, Bernard O. The long-term outcome of hepatic artery thrombosis after liver transplantation in children: role of urgent revascularization. Am J Transplant. 2012 Jun;12(6):1496-503.

Grosse B, Cassio D, Yousef N, Bernardo C, Jacquemin E, Gonzales E. Claudin-1 involved in neonatal ichthyosis sclerosing cholangitis syndrome regulates hepatic paracellular permeability. Hepatology. 2012 Apr;55(4):1249-59.

Gonzales E, Jacquemin E. Primary bile acid therapy during pregnancy in patients with 3β-hydroxy-Δ5 -C27 -steroid oxidoreductase deficiency. Pediatr Int. 2011 Oct;53(5):792

Héry G, Franchi-Abella S, Habes D, Brugières L, Martelli H, Fabre M, Pariente D, Gauthier F, Jacquemin E, Branchereau S. Initial liver transplantation for unresectable hepatoblastoma after chemotherapy. Pediatr Blood Cancer. 2011 Dec 15;57(7):1270-5.

Paganelli M, Stephenne X, Gilis A, Jacquemin E, Henrion Caude A, Girard M,Gonzales E, Revencu N, Reding R, Wanty C, Smets F, Sokal EM. Neonatal ichthyosis and sclerosing cholangitis syndrome: extremely variable liver disease severity from claudin-1 deficiency. J Pediatr Gastroenterol Nutr. 2011 Sep;53(3):350-4.

Ackermann O, Fabre M, Franchi S, Pariente D, Debray D, Jacquemin E, Gauthier F, Bernard O. Widening spectrum of liver angiosarcoma in children. J Pediatr Gastroenterol Nutr. 2011 Dec;53(6):615-9.

Girard M, Jannot AS, Besnard M, Leutenegger AL, Jacquemin E, Lyonnet S, Henrion-Caude A. Polynesian ecology determines seasonality of biliary atresia. Hepatology. 2011 Nov;54(5):1893-4.

Davit-Spraul A, Piraud M, Dobbelaere D, Valayannopoulos V, Labrune P, Habes D, Bernard O, Jacquemin E, Baussan C. Liver glycogen storage diseases due to phosphorylase system deficiencies: diagnosis thanks to non invasive blood enzymatic and molecular studies. Mol Genet Metab. 2011 Sep-Oct;104(1-2):137-43.

Maggiore G, Sciveres M, Fabre M, Gori L, Pacifico L, Resti M, Choulot JJ, Jacquemin E, Bernard O. Giant cell hepatitis with autoimmune hemolytic anemia in early childhood: long-term outcome in 16 children. J Pediatr. 2011 Jul;159(1):127-132.

Maarof G, Krzysiek R, Décline JL, Cohen J, Habes D, Jacquemin E. Management of post-liver transplant-associated IgE-mediated food allergy in children. J Allergy Clin Immunol. 2011 May;127(5):1296-8.

Maggiore G, Gonzales E, Sciveres M, Redon MJ, Grosse B, Stieger B, Davit-Spraul A, Fabre M, Jacquemin E. Relapsing features of bile salt export pump deficiency after liver transplantation in two patients with progressive familial intrahepatic cholestasis type 2. J Hepatol. 2010 Nov;53(5):981-6.

de Goër de Herve MG, Gonzales E, Hendel-Chavez H, Décline JL, Mourier O, Abbed K, Jacquemin E, Taoufik Y. CD25 appears non essential for human peripheral T(reg) maintenance in vivo. PLoS One. 2010 Jul 30;5(7)

Franchi-Abella S, Branchereau S, Lambert V, Fabre M, Steimberg C, Losay J, Riou JY, Pariente D, Gauthier F, Jacquemin E, Bernard O. Complications of congenital portosystemic shunts in children: therapeutic options and outcomes. J Pediatr Gastroenterol Nutr. 2010 Sep;51(3):322-30.

Siebold L, Dick AA, Thompson R, Maggiore G, Jacquemin E, Jaffe R, Strautnieks S, Grammatikopoulos T, Horslen S, Whitington PF, Shneider BL. Recurrent low gamma-glutamyl transpeptidase cholestasis following liver transplantation for bile salt export pump (BSEP) disease (posttransplant recurrent BSEP disease).Liver Transpl. 2010 Jul;16(7):856-63.

Yousef N, Habes D, Ackermann O, Durand P, Bernard O, Jacquemin E. Hepatorenal syndrome: diagnosis and effect of terlipressin therapy in 4 pediatric patients. J Pediatr Gastroenterol Nutr. 2010 Jul;51(1):100-2.

Gonzales E, Jacquemin E. Mutation specific drug therapy for progressive familial or benign recurrent intrahepatic cholestasis: a new tool in a near future? J Hepatol. 2010 Aug;53 (2):385-7.

Pawlikowska L, Strautnieks S, Jankowska I, Czubkowski P, Emerick K, Antoniou A, Wanty C, Fischler B, Jacquemin E, Wali S, Blanchard S, Nielsen IM, Bourke B, McQuaid S, Lacaille F, Byrne JA, van Eerde AM, Kolho KL, Klomp L, Houwen R, Bacchetti P, Lobritto S, Hupertz V, McClean P, Mieli-Vergani G, Shneider B,Nemeth A, Sokal E, Freimer NB, Knisely AS, Rosenthal P, Whitington PF, Pawlowska J, Thompson RJ, Bull LN. Differences in presentation and progression between severe FIC1 and BSEP deficiencies. J Hepatol. 2010 Jul;53(1):170-8.

Davit-Spraul A, Gonzales E, Baussan C, Jacquemin E. The spectrum of liver diseases related to ABCB4 gene mutations: pathophysiology and clinical aspects. Semin Liver Dis. 2010 May;30(2):134-46.

Davit-Spraul A, Fabre M, Branchereau S, Baussan C, Gonzales E, Stieger B, Bernard O, Jacquemin E. ATP8B1 and ABCB11 analysis in 62 children with normal gamma-glutamyl transferase progressive familial intrahepatic cholestasis (PFIC): phenotypic differences between PFIC1 and PFIC2 and natural history. Hepatology.2010 May;51(5):1645-55.

Jacquemin E, Malan V, Rio M, Davit-Spraul A, Cohen J, Landrieu P, Bernard O. Heterozygous FIC1 deficiency: a new genetic predisposition to transient neonatal cholestasis. J Pediatr Gastroenterol Nutr. 2010 Apr;50(4):447-9

Hermeziu B, Messous D, Fabre M, Munteanu M, Baussan C, Bernard O, Poynard T, Jacquemin E. Evaluation of FibroTest-ActiTest in children with chronic hepatitis C virus infection. Gastroenterol Clin Biol. 2010 Jan;34(1):16-22.

53: Gonzales E, Gerhardt MF, Fabre M, Setchell KD, Davit-Spraul A, Vincent I, Heubi JE, Bernard O, Jacquemin E. Oral cholic acid for hereditary defects of primary bile acid synthesis: a safe and effective long-term therapy.Gastroenterology. 2009 Oct;137(4):1310-1320.

Lankisch TO, Mourier O, Sokal EM, Habes D, Lacaille F, Bridoux-Henno L, Hermeziu B, Lenaerts C, Strassburg CP, Jacquemin E. AIRE gene analysis in children with autoimmune hepatitis type I or II. J Pediatr Gastroenterol Nutr. 2009 Apr;48(4):498-500.

Gonzales E, Davit-Spraul A, Baussan C, Buffet C, Maurice M, Jacquemin E. Liver diseases related to MDR3 (ABCB4) gene deficiency. Front Biosci (Landmark Ed). 2009 Jan 1;14:4242-56. Review.

Delaunay JL, Durand-Schneider AM, Delautier D, Rada A, Gautherot J, Jacquemin E, Aït-Slimane T, Maurice M. A missense mutation in ABCB4 gene involved in progressive familial intrahepatic cholestasis type 3 leads to a folding defect that can be rescued by low temperature. Hepatology. 2009 Apr;49(4):1218-27.

Davit-Spraul A, Gonzales E, Baussan C, Jacquemin E. Progressive familial intrahepatic cholestasis. Orphanet J Rare Dis. 2009 Jan 8;4:1.

Lemoine M, Revaux A, Francoz C, Ducarme G, Brechignac S, Jacquemin E, Uzan M, Ganne-Carrie N. Albumin liver dialysis as pregnancy-saving procedure in cholestatic liver disease and intractable pruritus. World J Gastroenterol. 2008 Nov 14;14(42):6572-4.

Lykavieris P, Ducot B, Lachaux A, Dabadie A, Broué P, Sarles J, Bernard O, Jacquemin E. Liver disease associated with ZZ alpha1-antitrypsin deficiency and ursodeoxycholic acid therapy in children. J Pediatr Gastroenterol Nutr. 2008 Nov;47(5):623-9.

Dhalluin-Venier V, Fabre M, Jacquemin E, Rangheard AS, Pelletier G, Buffet C. Liver cell adenomas and portosystemic shunt. Gastroenterol Clin Biol. 2008 Feb;32(2):164-6.

Mourier O, Durand P, Lambert V, Bretagne S, Maurage C, Branchereau S, Bernard O, Jacquemin E. Aspergillus fumigatus endocarditis in a pediatric liver transplant recipient: favorable outcome without cardiac surgery. Pediatr Transplant. 2009 Aug;13(5):636-40.

Hermeziu B, Franchi-Abella S, Plessier A, Habes D, Mosca A, Sibert A, Bernard O, Pariente D, Jacquemin E. Budd-Chiari syndrome and essential thrombocythemia in a child: favorable outcome after transjugular intrahepatic portosystemic shunt. J Pediatr Gastroenterol Nutr. 2008 Mar;46(3):334-7.

Girard M, Jacquemin E, Munnich A, Lyonnet S, Henrion-Caude A. miR-122, a paradigm for the role of microRNAs in the liver. J Hepatol. 2008. Apr;48(4):648-56.

Isidor B, Rio M, Mourier O, Habes D, Amiel J, Jacquemin E. Kabuki syndrome and neonatal cholestasis: report of a new case and review of the literature. J Pediatr Gastroenterol Nutr. 2007 Aug;45(2):261-4.

Gonzales E, Prigent S, Abou-Lovergne A, Boucherie S, Tordjmann T, Jacquemin E, Combettes L. Rat hepatocytes express functional P2X receptors. FEBS Lett. 2007 Jul 10;581(17):3260-6.

Bourdeaut F, Guiochon-Mantel A, Fabre M, Martelli H, Patte C, Porta G, Bernard O, Delattre O, Jacquemin E. Alagille syndrome and nephroblastoma: Unusual coincidence of two rare disorders. Pediatr Blood Cancer. 2008 Apr;50(4):908-11.

Jung C, Driancourt C, Baussan C, Zater M, Hadchouel M, Meunier-Rotival M,Guiochon-Mantel A, Jacquemin E. Prenatal molecular diagnosis of inherited
cholestatic diseases. J Pediatr Gastroenterol Nutr. 2007 Apr;44(4):453-8.

Demeilliers C, Jacquemin E, Barbu V, Mergey M, Paye F, Fouassier L, Chignard N, Housset C, Lomri NE. Altered hepatobiliary gene expressions in PFIC1: ATP8B1 gene defect is associated with CFTR downregulation. Hepatology. 2006 May;43(5):1125-34.

Hermeziu B, Sanlaville D, Girard M, Léonard C, Lyonnet S, Jacquemin E. Heterozygous bile salt export pump deficiency: a possible genetic predisposition to transient neonatal cholestasis. J Pediatr Gastroenterol Nutr. 2006 Jan;42(1):114-6.

Lankisch TO, Strassburg CP, Debray D, Manns MP, Jacquemin E. Detection of autoimmune regulator gene mutations in children with type 2 autoimmune hepatitis and extrahepatic immune-mediated diseases. J Pediatr. 2005 Jun;146(6):839-42.

Girard M, Amiel J, Fabre M, Pariente D, Lyonnet S, Jacquemin E. Adams-Oliver syndrome and hepatoportal sclerosis: occasional association or common mechanism? Am J Med Genet A. 2005 Jun 1;135(2):186-9.

Hadj-Rabia S, Baala L, Vabres P, Hamel-Teillac D, Jacquemin E, Fabre M, Lyonnet S, De Prost Y, Munnich A, Hadchouel M, Smahi A. Claudin-1 gene mutations in neonatal sclerosing cholangitis associated with ichthyosis: a tight junction disease. Gastroenterology. 2004 Nov;127(5):1386-90.

Taghian M, Tran TA, Bresson-Hadni S, Menget A, Felix S, Jacquemin E. Acute vanishing bile duct syndrome after ibuprofen therapy in a child. J Pediatr. 2004 Aug;145(2):273-6. Review.

Baussan C, Cresteil D, Gonzales E, Raynaud N, Dumont M, Bernard O, Hadchouel M, Jacquemin E. Genetic cholestatic liver diseases: the example of progressive familial intrahepatic cholestasis and related disorders. Acta Gastroenterol Belg.2004 Apr-Jun;67(2):179-83. Review.

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