Publications by authors named "Jacques Sarles"

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Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility.
Clothilde Esteve, Ludmila Francescatto, Perciliz L Tan, Aurélie Bourchany, Cécile De Leusse, Jacques Sarles

Am J Hum Genet· March 2018

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Ara h 2 and Ara h 6 sensitization predicts peanut allergy in Mediterranean pediatric patients.
Chantal Agabriel, Ouafeh Ghazouani, Joëlle Birnbaum, Valérie Liabeuf, Françoise Porri, Jacques Sarles

Pediatr Allergy Immunol· November 2014

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Neonatal screening for cystic fibrosis: comparing the performances of IRT/DNA and IRT/PAP.
Jacques Sarles, Roch Giorgi, Patrice Berthézène, Anne Munck, David Cheillan

J Cyst Fibros· July 2014

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Evaluation of serum lipase as predictor of severity of acute pancreatitis in children.
Alexandre Fabre, Ophélie Boulogne, Jean Gaudart, Emmanuel Mas, Jean-Pierre Olives, Jacques Sarles

J Pediatr Gastroenterol Nutr· April 2014

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Syndromic (phenotypic) diarrhoea of infancy/tricho-hepato-enteric syndrome.
Alexandre Fabre, Anne Breton, Marie-Edith Coste, Virginie Colomb, Beatrice Dubern, Jacques Sarles

Arch Dis Child· January 2014

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Heterogeneity of follow-up procedures in French and Belgian patients with treated hereditary tyrosinemia type 1: results of a questionnaire and proposed guidelines.
Manuel Schiff, Pierre Broue, Brigitte Chabrol, Corinne De Laet, Dalila Habes, Jacques Sarles

J Inherit Metab Dis· September 2012

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Severity scores in children with acute pancreatitis.
Alexandre Fabre, Philippe Petit, Jean Gaudart, Emmanuel Mas, Julie Vial, Jacques Sarles

J Pediatr Gastroenterol Nutr· September 2012

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SKIV2L mutations cause syndromic diarrhea, or trichohepatoenteric syndrome.
Alexandre Fabre, Bernard Charroux, Christine Martinez-Vinson, Bertrand Roquelaure, Egritas Odul, Jacques Sarles

Am J Hum Genet· April 2012

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Novel mutations in TTC37 associated with tricho-hepato-enteric syndrome.
Alexandre Fabre, Christine Martinez-Vinson, Bertrand Roquelaure, Chantal Missirian, Nicolas André, Jacques Sarles

Hum Mutat· March 2011

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Clinical phenotype and genotype of children with borderline sweat test and abnormal nasal epithelial chloride transport.
Isabelle Sermet-Gaudelus, Emanuelle Girodon, Dorota Sands, Nathalie Stremmler, Vera Vavrova, Jacques Sarles

Am J Respir Crit Care Med· October 2010

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Risk factors for Aspergillus colonization and allergic bronchopulmonary aspergillosis in children with cystic fibrosis.
Virginie Jubin, Stéphane Ranque, Nathalie Stremler Le Bel, Jacques Sarles, Jean-Christophe Dubus

Pediatr Pulmonol· August 2010

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Outbreak of Corynebacterium pseudodiphtheriticum infection in cystic fibrosis patients, France.
Fadi Bittar, Carole Cassagne, Emmanuelle Bosdure, Nathalie Stremler, Jean Christophe Dubus, Jacques Sarles

Emerg Infect Dis· August 2010

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Neonatal screening for sickle cell disease in France: evaluation of the selective process.
Isabelle Thuret, Jacques Sarles, Françoise Merono, Eliane Suzineau, Jacques Collomb

J Clin Pathol· June 2010

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Nocardia farcinica lung infection in a patient with cystic fibrosis: a case report.
Fadi Bittar, Nathalie Stremler, Jean-Pierre Audié, Jean-Christophe Dubus, Jacques Sarles

J Med Case Rep· March 2010

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Impact of age at Kasai operation on its results in late childhood and adolescence: a rational basis for biliary atresia screening.
Marie-Odile Serinet, Barbara E Wildhaber, Pierre Broué, Alain Lachaux, Jacques Sarles

Pediatrics· May 2009

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Exclusion of EGFR, HRAS, DSP, JUP, CTNNB1, PLEC1, and EPPK1 as functional candidate genes in 7 families with syndromic diarrhoea.
Alexandre Fabre, Bertrand Roquelaure, Caroline Lacoste, Nicolas André, Jacques Sarles

J Pediatr Gastroenterol Nutr· April 2009

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Efficacy of infliximab in pediatric Crohn's disease: a randomized multicenter open-label trial comparing scheduled to on demand maintenance therapy.
Frank M Ruemmele, Alain Lachaux, Jean-Pierre Cézard, Alain Morali, Chantal Maurage, Jacques Sarles

Inflamm Bowel Dis· March 2009

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Genomic analysis of an emerging multiresistant Staphylococcus aureus strain rapidly spreading in cystic fibrosis patients revealed the presence of an antibiotic inducible bacteriophage.
Jean-Marc Rolain, Patrice François, David Hernandez, Fadi Bittar, Hervé Richet, Jacques Sarles

Biol Direct· January 2009

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First isolation of two colistin-resistant emerging pathogens, Brevundimonas diminuta and Ochrobactrum anthropi, in a woman with cystic fibrosis: a case report.
Magalie Menuet, Fadi Bittar, Nathalie Stremler, Jean-Christophe Dubus, Jacques Sarles

J Med Case Rep· December 2008

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Liver disease associated with ZZ alpha1-antitrypsin deficiency and ursodeoxycholic acid therapy in children.
Panayotis Lykavieris, Béatrice Ducot, Alain Lachaux, Alain Dabadie, Pierre Broué, Jacques Sarles

J Pediatr Gastroenterol Nutr· November 2008

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Molecular detection of multiple emerging pathogens in sputa from cystic fibrosis patients.
Fadi Bittar, Hervé Richet, Jean-Christophe Dubus, Martine Reynaud-Gaubert, Nathalie Stremler, Jacques Sarles

PLoS One· August 2008

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Incidence of autoimmune diseases in celiac disease: protective effect of the gluten-free diet.
Jacques Cosnes, Christophe Cellier, Sheila Viola, Jean-Frederic Colombel, Laurent Michaud, Jacques Sarles

Clin Gastroenterol Hepatol· July 2008

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Inquilinus limosus and cystic fibrosis.
Fadi Bittar, Anne Leydier, Emmanuelle Bosdure, Alexandre Toro, Martine Reynaud-Gaubert, Jacques Sarles

Emerg Infect Dis· June 2008

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[Mycophenolate mofetil restores renal function and spares steroids during idiopathic nephrotic syndrome in children. A cohort study].
Mathilde Cailliez, Danièle Bruno, Laurent Daniel, Mickaël Afaneti, Etienne Bérard, Jacques Sarles

Nephrol Ther· February 2008

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Quantitative and qualitative study of gastric lipolysis in premature infants: do MCT-enriched infant formulas improve fat digestion?
Céline Roman, Frédéric Carriere, Pierre Villeneuve, Michel Pina, Véronique Millet, Jacques Sarles

Pediatr Res· January 2007

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