B. Roquelaure

发表

Corrigendum: Mutations in CDCA7 and HELLS cause immunodeficiency–centromeric instability–facial anomalies syndrome

Yuya Ito, Jun Wang, Mikita Suyama, 2016, Nature Communications.

Chronic inflammatory diseases of the bowel: diagnosis and follow-up

G. Gorincour, P. Petit, B. Bourlière-Najean, 2010, Pediatric Radiology.

Nonconventional mesocaval prosthetic shunt interposition in refractory case with portal hypertension in a 10-kg female infant

B. Roquelaure, A. Delarue, G. Salman, 2018 .

Mutations in NBAS and SCYL1, genetic causes of recurrent liver failure in children: Three case reports and a literature review.

A. Slama, A. Cano, B. Chabrol, 2020, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

Genetic Enteropathies Linked to Epithelial Structural Abnormalities and Enteroendocrine Deficiency: A Systematic Review

B. Roquelaure, C. Badens, C. Buffat, 2021, Journal of pediatric gastroenterology and nutrition.

Exclusion of EGFR, HRAS, DSP, JUP, CTNNB1, PLEC1, and EPPK1 as functional candidate genes in 7 families with syndromic diarrhoea.

J. Sarles, N. André, N. Lévy, 2009, Journal of pediatric gastroenterology and nutrition.

Molecular effects of cyclosporine and oncogenesis: a new model.

N. André, J. Conrath, B. Roquelaure, 2004, Medical hypotheses.

Child with liver transplant recovers from COVID-19 infection. A case report

D. Raoult, E. Bosdure, P. Colson, 2020, Archives de Pédiatrie.

Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility.

J. Sarles, J. Hugot, N. Katsanis, 2018, American journal of human genetics.

Estimating the prevalence of congenital disaccharidase deficiencies using allele frequencies from gnomAD.

B. Roquelaure, C. Roman, C. de Leusse, 2022, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

Expression of Granzyme B in viral hepatitis in patients with ALPS

M. Ziol, F. Rieux-Laucat, N. André, 2004, Hepatology.

Osteo-Oto-Hepato-Enteric Syndrome (O2HE) is caused by loss of function mutations in UNC45A

J. Sarles, J. Hugot, N. Katsanis, 2017, bioRxiv.

Chronic renal failure and portal hypertension – is portosystemic shunt indicated?

J. Sarles, H. Nivet, B. Chabrol, 2000, Pediatric Nephrology.

Fibrin Glue Application in the Management of Refractory Chylous Ascites in Children

A. Rome, B. Roquelaure, S. Zeidan, 2008, Journal of pediatric gastroenterology and nutrition.

Improving outcomes of biliary atresia: French national series 1986-2009.

J. Golmard, F. Gottrand, B. Roquelaure, 2013, Journal of hepatology.

Histopathology of the liver in adolescents co-infected with HIV and hepatitis C virus

S. Blanche, B. Roquelaure, I. Thuret, 2003, AIDS.

Management of Biliary Atresia in France 1986-2015: Long Term Results.

F. Gottrand, B. Roquelaure, M. Girard, 2019, Journal of pediatric gastroenterology and nutrition.

Mother-to-infant transmission of hepatitis C virus: molecular evidence of superinfection by homologous virus in children.

J. Sarles, Y. Quentin, P. Halfon, 1999, Journal of hepatology.

Chronic Intestinal Pseudoobstruction Syndrome Clinical Analysis, Outcome, and Prognosis in 105 Children

J. Baudon, P. Tounian, O. Goulet, 1999, Digestive Diseases and Sciences.

Odevixibat treatment in progressive familial intrahepatic cholestasis: a randomised, placebo-controlled, phase 3 trial.

Richard J. Thompson, L. D’Antiga, R. Houwen, 2022, The lancet. Gastroenterology & hepatology.

Detection of a newly identified hepatitis B virus genotype in southeastern France.

P. Colson, C. Tamalet, B. Roquelaure, 2009, Journal of clinical virology : the official publication of the Pan American Society for Clinical Virology.

Defective B-cell-negative selection and terminal differentiation in the ICF syndrome.

M. Milili, C. Blanco-Betancourt, C. Schiff, 2004, Blood.

B cell negative selection and terminal differentiation are defective in the ICF syndrome Short title: B cell development and tolerance in ICF syndrome

M. Milili, C. Schiff, A. Moncla, 2003 .

Partial splenectomy in children undergoing liver transplantation or venous shunt for severe hypersplenism: a case control comparative study.

J. Dumortier, L. Milot, P. Petit, 2022, Clinics and research in hepatology and gastroenterology.

Mutations in CDCA7 and HELLS cause immunodeficiency–centromeric instability–facial anomalies syndrome

M. Suyama, C. Picard, A. Gennery, 2015, Nature Communications.

Macrophage Activation Syndrome Mimicking Life-Threatening Infection in a Patient With Variable Immunodeficiency, Centromeric Instability, and Facial Anomalies

N. André, C. Blanco-Betancourt, C. Schiff, 2004, Pediatrics.

[Recurrent tracheoesophageal fistula in type III esophageal atresia. Diagnosis and treatment are not easy].

J. Dubus, P. de Lagausie, B. Roquelaure, 2014, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

Left shoulder pain during meals: a rare complication after laparoscopic Toupet procedure in children.

P. de Lagausie, B. Roquelaure, B. Ramella, 2006, Surgical laparoscopy, endoscopy & percutaneous techniques.

Omeprazole combined with amoxicillin and clarithromycin in the eradication of Helicobacter pylori in children with gastritis: A prospective randomized double-blind trial.

F. Gottrand, P. Barthélémy, C. Dupont, 2001, The Journal of pediatrics.

Fatal case of Reye's syndrome associated with H3N2 influenza virus infection and salicylate intake in a 12-year-old patient.

R. Charrel, C. Zandotti, B. Roquelaure, 2011, Clinical microbiology and infection : the official publication of the European Society of Clinical Microbiology and Infectious Diseases.

Genetic contribution of ABCC2 to Dubin‐Johnson syndrome and inherited cholestatic disorders

Y. Chrétien, O. Chazouilleres, C. Corpechot, 2020, Liver international : official journal of the International Association for the Study of the Liver.

Perforin-dependent apoptosis functionally compensates Fas deficiency in activation-induced cell death of human T lymphocytes.

F. Rieux-Laucat, A. Fischer, N. André, 2007, Blood.

Syndromic (phenotypic) diarrhea in early infancy

C. Bodemer, N. Brousse, O. Goulet, 2008, Orphanet journal of rare diseases.

Syndromic (phenotypic) diarrhoea of infancy/tricho-hepato-enteric syndrome

J. Sarles, O. Goulet, N. Peretti, 2013, Archives of Disease in Childhood.

Novel mutations in TTC37 associated with tricho‐hepato‐enteric syndrome

J. Sarles, N. André, N. Lévy, 2011, Human mutation.

Intractable diarrhea with “phenotypic anomalies” and tricho‐hepato‐enteric syndrome: Two names for the same disorder

N. André, B. Roquelaure, C. Badens, 2007, American journal of medical genetics. Part A.

Orphanet Journal of Rare Diseases Syndromic (phenotypic) Diarrhea in Early Infancy Background

C. Bodemer, N. Brousse, O. Goulet, 2022 .

The cholecystocolic bypass with jejunal interposition graft for bile acid depletion in bile and portal blood in guinea pigs

F. Trivin, B. Roquelaure, J. Guys, 2003, Pediatric Surgery International.

Targeted-Capture Next-Generation Sequencing in Diagnosis Approach of Pediatric Cholestasis

B. Roquelaure, M. Girard, E. Jacquemin, 2022, Diagnostics.

Inappropriate liver transplantation in a child with Alpers–Huttenlocher syndrome misdiagnosed as valproate‐induced acute liver failure

J. Sarles, B. Roquelaure, J. Guys, 2000, Pediatric transplantation.

SKIV2L mutations cause syndromic diarrhea, or trichohepatoenteric syndrome.

J. Sarles, N. André, J. Hugot, 2012, American journal of human genetics.

Quality of life of transplanted children and their parents: a cross-sectional study

K. Baumstarck, P. Auquier, C. Ovaert, 2020, Orphanet Journal of Rare Diseases.

MICI-MINOTS: Linguistic and metric validation of a pediatric questionnaire on knowledge about inflammatory bowel disease.

K. Baumstarck, A. Loundou, B. Roquelaure, 2019, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

[Atypical sonographic findings of bacterial colitis].

M. Panuel, K. Chaumoitre, P. Petit, 2000, Journal de radiologie.

A prospective pilot study: Can the biliary tree be visualized in children younger than 3 months on Magnetic Resonance Cholangiopancreatography?

G. Gorincour, P. Petit, B. Bourlière-Najean, 2014, Pediatric Radiology.

Anti-mitochondrial-2 antibodies (anti-PDC-E2): a marker for autoimmune hepatitis of children?

E. Ballot, B. Roquelaure, C. Johanet, 2012, Clinics and research in hepatology and gastroenterology.

Purpura Fulminans in a Patient Homozygous for a Mutation in the Protein C Gene - Prenatal Diagnosis in a Subsequent Pregnancy

M. Alessi, I. Juhan-vague, B. Roquelaure, 1996, Thrombosis and Haemostasis.

Successful treatment of severe cardiomyopathy with NTBC in a child with tyrosinaemia type I

N. André, C. Ovaert, B. Roquelaure, 2005, Journal of Inherited Metabolic Disease.

Doppler ultrasound in the diagnosis of Budd-Chiari syndrome in children after split liver transplantation.

P. Auquier, G. Gorincour, P. Petit, 2018, Diagnostic and interventional imaging.

Interim results from an ongoing, open-label, single-arm trial of odevixibat in progressive familial intrahepatic cholestasis

Richard J. Thompson, L. D’Antiga, R. Houwen, 2023, JHEP reports : innovation in hepatology.

Classification of PRSS1 variants responsible for chronic pancreatitis: An expert perspective from the Franco-Chinese GREPAN study group.

Zheng Wang, Hong Zhang, C. Clavel, 2023, Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.].

Sonographic diagnosis of a common pancreaticobiliary channel in children

G. Gorincour, P. Petit, B. Bourlière-Najean, 2006, Pediatric Radiology.

A second case of multisystem inflammatory syndrome associated with SARS‐CoV‐2 in a liver‐transplanted child

E. Bosdure, C. Zandotti, B. Roquelaure, 2021, Pediatric transplantation.

Fulminant Hepatitis Due to Father-to-Newborn Transmission of Herpes Simplex Virus type 1

R. Charrel, A. Nougairède, C. Zandotti, 2013, The open virology journal.

Hepatitis E in three immunocompromized children in southeastern France.

P. Colson, C. Zandotti, B. Roquelaure, 2012, Journal of clinical virology : the official publication of the Pan American Society for Clinical Virology.

[Oxcarbazepine and DRESS syndrome: a paediatric cause of acute liver failure].

J. Sarles, E. Bosdure, M. Boyer, 2004, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.