about
Progressive familial intrahepatic cholestasisAltered hepatobiliary gene expressions in PFIC1: ATP8B1 gene defect is associated with CFTR downregulationDCDC2 Mutations Cause Neonatal Sclerosing CholangitisHaploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac AnomaliesMolecular genetics of 3beta-hydroxy-Delta5-C27-steroid oxidoreductase deficiency in 16 patients with loss of bile acid synthesis and liver diseaseBudd-Chiari syndrome and essential thrombocythemia in a child: favorable outcome after transjugular intrahepatic portosystemic shunt.Seronegative autoimmune hepatitis in children: Spectrum of disorders.Identification of a human splenic marginal zone B cell precursor with NOTCH2-dependent differentiation properties.CD25 appears non essential for human peripheral T(reg) maintenance in vivomiR-122, a paradigm for the role of microRNAs in the liver.Differences in presentation and progression between severe FIC1 and BSEP deficiencies.CFC1 gene involvement in biliary atresia with polysplenia syndrome.Inherited CARD9 deficiency in 2 unrelated patients with invasive Exophiala infectionCholestasis Reveals Severe Cortisol Deficiency in Neonatal Pituitary Stalk Interruption Syndrome.Long-term outcome of pediatric liver transplantation for biliary atresia: a 10-year follow-up in a single center.Liver diseases related to MDR3 (ABCB4) gene deficiency.Albumin liver dialysis as pregnancy-saving procedure in cholestatic liver disease and intractable pruritus.Clinical utility gene card for: progressive familial intrahepatic cholestasis type 1.Clinical utility gene card for: progressive familial intrahepatic cholestasis type 2.Clinical utility gene card for: progressive familial intrahepatic cholestasis type 3The spectrum of liver diseases related to ABCB4 gene mutations: pathophysiology and clinical aspects.Complications of congenital portosystemic shunts in children: therapeutic options and outcomes.Portopulmonary Hypertension in Liver Disease Presenting in Childhood.Homozygosity mapping of a locus for a novel syndromic ichthyosis to chromosome 3q27-q28.MYO5B and bile salt export pump contribute to cholestatic liver disorder in microvillous inclusion disease.Successful mutation-specific chaperone therapy with 4-phenylbutyrate in a child with progressive familial intrahepatic cholestasis type 2.Claudin-1 involved in neonatal ichthyosis sclerosing cholangitis syndrome regulates hepatic paracellular permeability.Sertraline as an Additional Treatment for Cholestatic Pruritus in Children.MYO5B mutations cause cholestasis with normal serum gamma-glutamyl transferase activity in children without microvillous inclusion disease.Initial liver transplantation for unresectable hepatoblastoma after chemotherapy.Mutation specific drug therapy for progressive familial or benign recurrent intrahepatic cholestasis: a new tool in a near future?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.Portal hypertension in children: High-risk varices, primary prophylaxis and consequences of bleeding.Mitochondrial Infantile Liver Disease due to TRMU Gene Mutations: Three New Cases.Secondary Mitochondrial Respiratory Chain Defect Can Delay Accurate PFIC2 Diagnosis.Hepatorenal syndrome: diagnosis and effect of terlipressin therapy in 4 pediatric patients.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.Improving outcomes of biliary atresia: French national series 1986-2009.Anti-CD20 monoclonal antibody (Rituximab) treatment for Epstein-Barr virus-associated, B-cell lymphoproliferative disease in pediatric liver transplant recipients.SRD5B1 (AKR1D1) gene analysis in delta(4)-3-oxosteroid 5beta-reductase deficiency: evidence for primary genetic defect.
P50
Q21202893-7BC48375-49E7-4C91-87A7-9AB5D2073541Q24319097-F11AA2CB-B11F-40DC-A1ED-27BA0F6E6159Q28117486-1C0065B3-62F8-44EF-9F0F-28A681CAC8C3Q28261852-056D8E43-FAFD-4B26-930B-1259CBF92A84Q28581125-2378A464-281F-4AD9-8EBB-DB686A11FFD7Q33379120-9565D475-E822-4E32-A6AD-63A840DF8CC1Q33431520-A0B19458-0B0D-4DD6-925F-8A6A44CB37C1Q33569820-ED5787D4-7CDE-4D92-9860-466802024BC2Q33650919-1DBF4A0C-D971-45AC-94BA-1CFCA19BFDA8Q34010052-F1496E52-CD9A-4D88-8133-8FFC7437BBC1Q34592094-894D0E44-3DCD-4948-8837-3B78637BC9CFQ34731101-D30E2E94-BE0C-4DC2-B453-3CA1B1CF411DQ35661916-C9B4EC97-F079-4C14-9DC6-46CE133C2E42Q35909712-E783C748-650B-4198-8493-DD3C98E9DB46Q36018026-E6E73A8A-76D0-434E-B3BF-84B17D75DBBFQ37410583-CDCB0586-467B-4E26-ABFD-7E4D0B74F51EQ37411966-2AD8B49B-C38B-4B33-9B17-CE8C8C4CB750Q37636746-2F956E50-004C-41E0-AD0F-E8CC69B46446Q37636748-850A9FAC-2578-4040-B452-75AE3FF92758Q37636752-0E021A15-9037-4C6D-94B8-939344EBAE90Q37737631-3CBBE4BC-D1B9-4A0E-82AD-1DA254462732Q37770049-05180A13-4AA5-4E83-A9E5-EB507A8F7B3AQ38426258-371B1EE5-826E-467F-AEDB-41CECF6CD619Q38886307-2D0B736F-845B-45AE-9512-BA41C592AF14Q39283295-5025BB1E-C32B-40EC-9ADF-776CBCF12396Q39345805-4BFDDA37-B285-4AE0-9F29-CF82EF360796Q39452140-FFAC5B2D-B7B1-4532-833F-61DEF5E9DAD4Q39457327-362C9000-366F-4B92-AEBC-7A71A21CBEC2Q39482657-F1F44CF7-0DD8-47CF-950A-68F5F2207F9CQ39708518-C77FF183-AA38-472D-9BBC-EE75F710DB4EQ39865227-2AA2F46C-937B-4006-8D99-6CE046DF5DB5Q39888738-C57584D4-B977-40F6-8284-69D6EC84581DQ40567944-7FBF97E3-CD20-4958-B206-D057972DBFF0Q41821430-E0FBDC66-DB05-42AB-B053-BD635F2C0D36Q42967273-2D533D51-6652-41A3-861C-8A3943DF1015Q43027182-5687F36D-3B41-4BFB-ADB3-7F90B4394906Q43128402-BD7B2149-C914-483A-AB88-5ED53596A930Q43638929-2915D552-4132-451C-855A-277AF3ADE66DQ43945421-B184AEF2-2AEA-4602-9ABF-C62D08E20146Q44805409-02DB24C4-1C91-4A2D-88EE-C9324639E03D
P50
name
Emmanuel Jacquemin
@en
type
label
Emmanuel Jacquemin
@en
prefLabel
Emmanuel Jacquemin
@en