List of works - Emmanuel Jacquemin

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.

scientific article

AIRE gene analysis in children with autoimmune hepatitis type I or II.

scientific article published in April 2009

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

scientific article published in May 2010

Abdominal Arterial Anomalies in Children With Alagille Syndrome: Surgical Aspects and Outcomes of Liver Transplantation

scientific article published on 28 January 2017

Adams-Oliver syndrome and hepatoportal sclerosis: Occasional association or common mechanism?

article published in 2005

Alagille syndrome and nephroblastoma: Unusual coincidence of two rare disorders

scientific article published on 01 April 2008

Albumin liver dialysis as pregnancy-saving procedure in cholestatic liver disease and intractable pruritus

scientific article

Altered hepatobiliary gene expressions in PFIC1: ATP8B1 gene defect is associated with CFTR downregulation

scientific article

Anti-CD20 monoclonal antibody (Rituximab) treatment for Epstein-Barr virus-associated, B-cell lymphoproliferative disease in pediatric liver transplant recipients

scientific article

Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome Caused By VIPAR Mutation ⬇️

scientific article published on March 1, 2014

Aspergillus fumigatus endocarditis in a pediatric liver transplant recipient: favorable outcome without cardiac surgery.

scientific article

Bile Acid Synthesis Disorders in Arabs: A 10-year Screening Study

scientific article

Biliary atresia: does ethnicity matter?

scientific article published on 14 April 2012

Budd-Chiari syndrome and essential thrombocythemia in a child: favorable outcome after transjugular intrahepatic portosystemic shunt

scientific article

CD25 Appears Non Essential for Human Peripheral Treg Maintenance In Vivo ⬇️

scientific article published on July 30, 2010

CFC1 gene involvement in biliary atresia with polysplenia syndrome

scientific article

CFCI gene mutation and biliary atresia with polysplenia syndrome

scientific article published on 01 March 2002

Cholestasis Reveals Severe Cortisol Deficiency in Neonatal Pituitary Stalk Interruption Syndrome

scientific article published in February 2016

Cholic acid for primary bile acid synthesis defects: a life-saving therapy allowing a favorable outcome in adulthood

scientific article published on 29 October 2018

Claudin-1 gene mutations in neonatal sclerosing cholangitis associated with ichthyosis: a tight junction disease

article

Claudin-1 involved in neonatal ichthyosis sclerosing cholangitis syndrome regulates hepatic paracellular permeability ⬇️

scientific article published on March 1, 2012

Clinical utility gene card for: progressive familial intrahepatic cholestasis type 1.

scientific article published on 28 August 2013

Clinical utility gene card for: progressive familial intrahepatic cholestasis type 2.

scientific article published on 28 August 2013

Clinical utility gene card for: progressive familial intrahepatic cholestasis type 3

scientific article published on 04 September 2013

Complications of congenital portosystemic shunts in children: therapeutic options and outcomes

scientific article published on September 2010

Compound heterozygous PKHD1 variants cause a wide spectrum of ductal plate malformations.

scientific article published on 8 September 2015

Congenital portosystemic shunts in children: a new anatomical classification correlated with surgical strategy

scientific article published in July 2014

DCDC2 Mutations Cause Neonatal Sclerosing Cholangitis

scientific journal article

Delayed Postnatal Presentation of Biliary Atresia in 2 Premature Neonates ⬇️

scientific article published on 01 April 2011

Detection of autoimmune regulator gene mutations in children with type 2 autoimmune hepatitis and extrahepatic immune-mediated diseases.

scientific article

Differences in presentation and progression between severe FIC1 and BSEP deficiencies

scientific article

Epstein-Barr virus infection and altered control of apoptotic pathways in posttransplant lymphoproliferative disorders.

scientific article published on 4 August 2012

Experience With Endoscopic Management of High-Risk Gastroesophageal Varices, With and Without Bleeding, in Children With Biliary Atresia ⬇️

scientific article published on June 19, 2013

Familial liver adenomatosis associated with hepatocyte nuclear factor 1alpha inactivation

scientific article published on 01 November 2003

Giant cell hepatitis with autoimmune hemolytic anemia in early childhood: long-term outcome in 16 children

scientific article published on 24 February 2011

Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies

scientific article

Hepatorenal syndrome: diagnosis and effect of terlipressin therapy in 4 pediatric patients

scientific article published in July 2010

Heterozygous Bile Salt Export Pump Deficiency: A Possible Genetic Predisposition to Transient Neonatal Cholestasis

scientific article published on 01 January 2006

Heterozygous FIC1 Deficiency: A New Genetic Predisposition to Transient Neonatal Cholestasis

scientific article published on 01 April 2010

Homozygosity mapping of a locus for a novel syndromic ichthyosis to chromosome 3q27-q28.

scientific article

Identification of a human splenic marginal zone B cell precursor with NOTCH2-dependent differentiation properties

scientific article

Impact of age at Kasai operation on its results in late childhood and adolescence: a rational basis for biliary atresia screening

scientific article published on 01 May 2009

Improving outcomes of biliary atresia: French national series 1986–2009 ⬇️

scientific article published on February 8, 2013

Inherited CARD9 deficiency in 2 unrelated patients with invasive Exophiala infection

scientific article published on 23 July 2014

Initial liver transplantation for unresectable hepatoblastoma after chemotherapy

scientific article

Liver disease associated with ZZ alpha1-antitrypsin deficiency and ursodeoxycholic acid therapy in children

scientific article published in November 2008

Liver diseases related to MDR3 (ABCB4) gene deficiency

scientific article published on January 2009

Liver glycogen storage diseases due to phosphorylase system deficiencies: diagnosis thanks to non invasive blood enzymatic and molecular studies

scientific article published on 17 May 2011

Liver transcript analysis reveals aberrant splicing due to silent and intronic variations in the ABCB11 gene

article

Long-term outcome of pediatric liver transplantation for biliary atresia: a 10-year follow-up in a single center

scientific article

MYO5B and bile salt export pump contribute to cholestatic liver disorder in microvillous inclusion disease

scientific article published on 27 May 2014

MYO5B mutations cause cholestasis with normal serum gamma-glutamyl transferase activity in children without microvillous inclusion disease

scientific article

Management of patients with biliary atresia in France: results of a decentralized policy 1986-2002

scientific article published on 01 July 2006

Management of post–liver transplant–associated IgE-mediated food allergy in children ⬇️

scientific article published on 09 February 2011

Mitochondrial Infantile Liver Disease due to TRMU Gene Mutations: Three New Cases.

scientific article published on 27 April 2013

Molecular genetics of 3beta-hydroxy-Delta5-C27-steroid oxidoreductase deficiency in 16 patients with loss of bile acid synthesis and liver disease

scientific journal article

Mutation specific drug therapy for progressive familial or benign recurrent intrahepatic cholestasis: a new tool in a near future?

scientific article published on 29 April 2010

Mutations in the novel gene FOPV are associated with familial autosomal dominant and non-familial obliterative portal venopathy

scientific article published on 9 August 2017

NR1H4 analysis in patients with progressive familial intrahepatic cholestasis, drug-induced cholestasis or intrahepatic cholestasis of pregnancy unrelated to ATP8B1, ABCB11 and ABCB4 mutations

scientific article published on 09 November 2012

Neonatal ichthyosis and sclerosing cholangitis syndrome: extremely variable liver disease severity from claudin-1 deficiency

scientific article published on 01 September 2011

Neonatal ischemic liver failure: potential role of the ductus venosus

scientific article published on 01 May 2004

Oral cholic acid for hereditary defects of primary bile acid synthesis: a safe and effective long-term therapy.

scientific article published on 19 July 2009

PS-195-Predicting long-term outcome after surgical biliary diversion in Bsep-deficiency patients: Results from the NAPPED consortium

Polynesian ecology determines seasonality of biliary atresia

scientific article published in November 2011

Portal hypertension in children: High-risk varices, primary prophylaxis and consequences of bleeding

scientific article published on 20 September 2016

Portopulmonary Hypertension in Liver Disease Presenting in Childhood

scientific article published on 14 April 2015

Prenatal molecular diagnosis of inherited cholestatic diseases

scientific article published on 01 April 2007

Primary bile acid therapy during pregnancy in patients with 3β‐hydroxy‐Δ5‐C27‐steroid oxidoreductase deficiency ⬇️

scientific article published on 01 October 2011

Prognostic value of endoscopy in children with biliary atresia at risk for early development of varices and bleeding

scientific article published on 14 July 2010

Progression to high-risk gastroesophageal varices in children with biliary atresia with low-risk signs at first endoscopy

scientific article published in May 2015

Progressive familial intrahepatic cholestasis

scientific article

Progressive familial intrahepatic cholestasis

scientific article published on 01 September 2012

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 transplantation

scientific article published on 01 September 2003

Progressive familial intrahepatic cholestasis type 3 revealed by oral contraceptive pills

scientific article published on 01 May 2003

Prophylactic endoscopic sclerotherapy of large esophagogastric varices in infants with biliary atresia

scientific article

Rat hepatocytes express functional P2X receptors

scientific article published on 19 June 2007

Relapsing features of bile salt export pump deficiency after liver transplantation in two patients with progressive familial intrahepatic cholestasis type 2

scientific article published on 29 July 2010

SRD5B1 (AKR1D1) gene analysis in delta(4)-3-oxosteroid 5beta-reductase deficiency: evidence for primary genetic defect

scientific article published in April 2004

Secondary Mitochondrial Respiratory Chain Defect Can Delay Accurate PFIC2 Diagnosis.

scientific article published on 9 November 2013

Seronegative autoimmune hepatitis in children: Spectrum of disorders

scientific article

Sertraline as an Additional Treatment for Cholestatic Pruritus in Children

scientific article published on 24 August 2016

Serum Autotaxin Activity Correlates With Pruritus in Pediatric Cholestatic Disorders

scientific article published in April 2016

Successful mutation-specific chaperone therapy with 4-phenylbutyrate in a child with progressive familial intrahepatic cholestasis type 2 ⬇️

scientific article published on May 16, 2012

Targeted pharmacotherapy in progressive familial intrahepatic cholestasis type 2: Evidence for improvement of cholestasis with 4-phenylbutyrate

scientific article published on 26 February 2015

The spectrum of liver diseases related to ABCB4 gene mutations: pathophysiology and clinical aspects

scientific article published on 26 April 2010

Widening Spectrum of Liver Angiosarcoma in Children ⬇️

scientific article published on 01 December 2011

[Clinical practice guidelines on the use of liver biopsy]

scientific article published on 01 October 2002

[Screening for biliary atresia and stool color: method of colorimetric scale]

scientific article published on 16 April 2007

miR-122, a paradigm for the role of microRNAs in the liver

scientific article

List of works by Emmanuel Jacquemin

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.

AIRE gene analysis in children with autoimmune hepatitis type I or II.

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

Abdominal Arterial Anomalies in Children With Alagille Syndrome: Surgical Aspects and Outcomes of Liver Transplantation

Adams-Oliver syndrome and hepatoportal sclerosis: Occasional association or common mechanism?

Alagille syndrome and nephroblastoma: Unusual coincidence of two rare disorders

Albumin liver dialysis as pregnancy-saving procedure in cholestatic liver disease and intractable pruritus

Altered hepatobiliary gene expressions in PFIC1: ATP8B1 gene defect is associated with CFTR downregulation

Anti-CD20 monoclonal antibody (Rituximab) treatment for Epstein-Barr virus-associated, B-cell lymphoproliferative disease in pediatric liver transplant recipients

Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome Caused By VIPAR Mutation ⬇️

Aspergillus fumigatus endocarditis in a pediatric liver transplant recipient: favorable outcome without cardiac surgery.

Bile Acid Synthesis Disorders in Arabs: A 10-year Screening Study

Biliary atresia: does ethnicity matter?

Budd-Chiari syndrome and essential thrombocythemia in a child: favorable outcome after transjugular intrahepatic portosystemic shunt

CD25 Appears Non Essential for Human Peripheral Treg Maintenance In Vivo ⬇️

CFC1 gene involvement in biliary atresia with polysplenia syndrome

CFCI gene mutation and biliary atresia with polysplenia syndrome

Cholestasis Reveals Severe Cortisol Deficiency in Neonatal Pituitary Stalk Interruption Syndrome

Cholic acid for primary bile acid synthesis defects: a life-saving therapy allowing a favorable outcome in adulthood

Claudin-1 gene mutations in neonatal sclerosing cholangitis associated with ichthyosis: a tight junction disease

Claudin-1 involved in neonatal ichthyosis sclerosing cholangitis syndrome regulates hepatic paracellular permeability ⬇️

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 3

Complications of congenital portosystemic shunts in children: therapeutic options and outcomes

Compound heterozygous PKHD1 variants cause a wide spectrum of ductal plate malformations.

Congenital portosystemic shunts in children: a new anatomical classification correlated with surgical strategy

DCDC2 Mutations Cause Neonatal Sclerosing Cholangitis

Delayed Postnatal Presentation of Biliary Atresia in 2 Premature Neonates ⬇️

Detection of autoimmune regulator gene mutations in children with type 2 autoimmune hepatitis and extrahepatic immune-mediated diseases.

Differences in presentation and progression between severe FIC1 and BSEP deficiencies

Epstein-Barr virus infection and altered control of apoptotic pathways in posttransplant lymphoproliferative disorders.

Experience With Endoscopic Management of High-Risk Gastroesophageal Varices, With and Without Bleeding, in Children With Biliary Atresia ⬇️

Familial liver adenomatosis associated with hepatocyte nuclear factor 1alpha inactivation

Giant cell hepatitis with autoimmune hemolytic anemia in early childhood: long-term outcome in 16 children

Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies

Hepatorenal syndrome: diagnosis and effect of terlipressin therapy in 4 pediatric patients

Heterozygous Bile Salt Export Pump Deficiency: A Possible Genetic Predisposition to Transient Neonatal Cholestasis

Heterozygous FIC1 Deficiency: A New Genetic Predisposition to Transient Neonatal Cholestasis

Homozygosity mapping of a locus for a novel syndromic ichthyosis to chromosome 3q27-q28.

Identification of a human splenic marginal zone B cell precursor with NOTCH2-dependent differentiation properties

Impact of age at Kasai operation on its results in late childhood and adolescence: a rational basis for biliary atresia screening

Improving outcomes of biliary atresia: French national series 1986–2009 ⬇️

Inherited CARD9 deficiency in 2 unrelated patients with invasive Exophiala infection

Initial liver transplantation for unresectable hepatoblastoma after chemotherapy

Liver disease associated with ZZ alpha1-antitrypsin deficiency and ursodeoxycholic acid therapy in children

Liver diseases related to MDR3 (ABCB4) gene deficiency

Liver glycogen storage diseases due to phosphorylase system deficiencies: diagnosis thanks to non invasive blood enzymatic and molecular studies

Liver transcript analysis reveals aberrant splicing due to silent and intronic variations in the ABCB11 gene

Long-term outcome of pediatric liver transplantation for biliary atresia: a 10-year follow-up in a single center

MYO5B and bile salt export pump contribute to cholestatic liver disorder in microvillous inclusion disease

MYO5B mutations cause cholestasis with normal serum gamma-glutamyl transferase activity in children without microvillous inclusion disease

Management of patients with biliary atresia in France: results of a decentralized policy 1986-2002

Management of post–liver transplant–associated IgE-mediated food allergy in children ⬇️

Mitochondrial Infantile Liver Disease due to TRMU Gene Mutations: Three New Cases.

Molecular genetics of 3beta-hydroxy-Delta5-C27-steroid oxidoreductase deficiency in 16 patients with loss of bile acid synthesis and liver disease

Mutation specific drug therapy for progressive familial or benign recurrent intrahepatic cholestasis: a new tool in a near future?

Mutations in the novel gene FOPV are associated with familial autosomal dominant and non-familial obliterative portal venopathy

NR1H4 analysis in patients with progressive familial intrahepatic cholestasis, drug-induced cholestasis or intrahepatic cholestasis of pregnancy unrelated to ATP8B1, ABCB11 and ABCB4 mutations

Neonatal ichthyosis and sclerosing cholangitis syndrome: extremely variable liver disease severity from claudin-1 deficiency

Neonatal ischemic liver failure: potential role of the ductus venosus

Oral cholic acid for hereditary defects of primary bile acid synthesis: a safe and effective long-term therapy.

PS-195-Predicting long-term outcome after surgical biliary diversion in Bsep-deficiency patients: Results from the NAPPED consortium

Polynesian ecology determines seasonality of biliary atresia

Portal hypertension in children: High-risk varices, primary prophylaxis and consequences of bleeding

Portopulmonary Hypertension in Liver Disease Presenting in Childhood

Prenatal molecular diagnosis of inherited cholestatic diseases

Primary bile acid therapy during pregnancy in patients with 3β‐hydroxy‐Δ5‐C27‐steroid oxidoreductase deficiency ⬇️

Prognostic value of endoscopy in children with biliary atresia at risk for early development of varices and bleeding

Progression to high-risk gastroesophageal varices in children with biliary atresia with low-risk signs at first endoscopy

Progressive familial intrahepatic cholestasis

Progressive familial intrahepatic cholestasis

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 transplantation

Progressive familial intrahepatic cholestasis type 3 revealed by oral contraceptive pills

Prophylactic endoscopic sclerotherapy of large esophagogastric varices in infants with biliary atresia

Rat hepatocytes express functional P2X receptors

Relapsing features of bile salt export pump deficiency after liver transplantation in two patients with progressive familial intrahepatic cholestasis type 2

SRD5B1 (AKR1D1) gene analysis in delta(4)-3-oxosteroid 5beta-reductase deficiency: evidence for primary genetic defect

Secondary Mitochondrial Respiratory Chain Defect Can Delay Accurate PFIC2 Diagnosis.