Alexandre Fabre

Alexandre Fabre

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Alexandre Fabre

Alexandre Fabre

Publications by authors named "Alexandre Fabre"

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Distinct molecular response patterns of activating STAT3 mutations associate with penetrance of lymphoproliferation and autoimmunity.

Clin Immunol 2020 Jan 23;210:108316. Epub 2019 Nov 23.

Institute for Immunodeficiency, Center for Chronic Immunodeficiency, Medical Center, University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany; Center for Pediatrics, Medical Center, University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany; CIBSS - Centre for Integrative Biological Signalling Studies, University of Freiburg, Freiburg, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.clim.2019.108316DOI Listing
January 2020

Congenital Sodium Diarrhea by mutation of the SLC9A3 gene.

Eur J Med Genet 2019 Oct 2;62(10):103712. Epub 2019 Jul 2.

Pediatric Gastroenterology and Nutrition, Pediatric Hospital la Timone, AP-HM, 264, rue Saint-Pierre, 13385, Marseille, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2019.103712DOI Listing
October 2019

Chronic hepatitis associated with antiribosomal-P autoantibodies in a 14-year-old girl.

Clin Case Rep 2019 Oct 5;7(10):2008-2010. Epub 2019 Sep 5.

Service de pédiatrie multidisciplinaire Hôpital de la Timone enfants, AP-HM Marseille France.

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http://dx.doi.org/10.1002/ccr3.2410DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6787851PMC
October 2019

Detection of Human Microchimerism following Allogeneic Cell Transplantation Using Droplet Digital PCR.

Stem Cells Int 2019 12;2019:8129797. Epub 2019 Jun 12.

Laboratory of Pediatric Hepatology and Cell Therapy, Institut de Recherche Expérimentale et Clinique, Université Catholique de Louvain, 1200 Brussels, Belgium.

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http://dx.doi.org/10.1155/2019/8129797DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6594293PMC
June 2019

Hepatocarcinoma and Cholestasis Associated to Germline Hemizygous Deletion of Gene HNF1B.

J Pediatr Gastroenterol Nutr 2019 May;68(5):e85

Service de Pédiatrie Multidisciplinaire, Hôpital de la Timone Enfants, APHM, Marseille, France.

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http://dx.doi.org/10.1097/MPG.0000000000002015DOI Listing
May 2019

Clinical Aspects of STAT3 Gain-of-Function Germline Mutations: A Systematic Review.

J Allergy Clin Immunol Pract 2019 Jul - Aug;7(6):1958-1969.e9. Epub 2019 Feb 27.

Pediatric Pulmonology Department, Hôpitaux pédiatriques de Nice CHU-Lenval, Nice, France; Université de Nice-Sophia Antipolis, Nice, France. Electronic address:

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http://dx.doi.org/10.1016/j.jaip.2019.02.018DOI Listing
February 2019

Diagnostic Yield of Next-generation Sequencing in Very Early-onset Inflammatory Bowel Diseases: A Multicentre Study.

J Crohns Colitis 2018 Aug;12(9):1104-1112

INSERM, UMR1163, Laboratory of Intestinal Immunity, and Imagine Institute, Paris, France.

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http://dx.doi.org/10.1093/ecco-jcc/jjy068DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6113703PMC
August 2018

Tricho-Hepato-Enteric Syndrome mutation update: Mutations spectrum of TTC37 and SKIV2L, clinical analysis and future prospects.

Hum Mutat 2018 06 25;39(6):774-789. Epub 2018 Mar 25.

Molecular genetics Laboratory, Medical genetics and Cell biology Department, La Timone children's hospital, Assistance-Publique des Hôpitaux de Marseille (APHM), Marseille, France.

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http://dx.doi.org/10.1002/humu.23418DOI Listing
June 2018

Missense mutation of TTC7A mimicking tricho-hepato-enteric (SD/THE) syndrome in a patient with very-early onset inflammatory bowel disease.

Eur J Med Genet 2018 Apr 23;61(4):185-188. Epub 2017 Nov 23.

Faculté de Médecine, Inserm UMRS 910, Aix-Marseille Université, Marseille, France; Service de Pédiatrie Multidisciplinaire, Hôpital d'enfants de la Timone, 264 rue Saint Pierre, APHM, 13005 Marseille, France.

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https://linkinghub.elsevier.com/retrieve/pii/S17697212173018
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http://dx.doi.org/10.1016/j.ejmg.2017.11.014DOI Listing
April 2018

Jinx or Not?: There Is Nothing Like a "Black Cloud" Syndrome.

Pediatr Emerg Care 2017 Oct;33(10):686-689

From the *Service d'Urgence Pédiatrique, Hôpital de la Timone, APHM; and †Aix-Marseille Univ, UMR 912 (SESSTIM); and ‡APHM, UF, Biostatistiques, Marseille, France.

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http://dx.doi.org/10.1097/PEC.0000000000000663DOI Listing
October 2017

Management of syndromic diarrhea/tricho-hepato-enteric syndrome: A review of the literature.

Intractable Rare Dis Res 2017 Aug;6(3):152-157

Aix Marseille Université, INSERM, Génétique Médicale et Génomique Fonctionnelle (GMGF), UMRS 910, Marseille, France.

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http://dx.doi.org/10.5582/irdr.2017.01040DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5608923PMC
August 2017

Somatic mutation, a cause of biliary atresia: A hypothesis.

Med Hypotheses 2017 May 9;102:91-93. Epub 2017 Mar 9.

Service de Pédiatrie Multidisciplinaire Hopital de la Timone, APHM, Marseille, France.

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http://dx.doi.org/10.1016/j.mehy.2017.03.015DOI Listing
May 2017

Survey on Clinical Practice of Primary Prophylaxis in Portal Hypertension in Children.

J Pediatr Gastroenterol Nutr 2017 04;64(4):524-527

*Department of Digestive Endoscopy, AP-HM Hôpital de la Timone Adulte †Department of Digestive Endoscopy, Hôpital Européen ‡Department of Digestive Endoscopy, Hôpital Privé Beauregard, Marseille §Department of Paediatric Hepatology and National Referral Centre for Biliary Atresia and Paediatric Radiology, AP-HP Hôpital Bicêtre, Le Kremlin-Bicêtre ||Paris-Sud 11 University, Orsay, France ¶Department of Multidisciplinary Paediatrics, AP-HM Hôpital de la Timone Enfant, Marseille, France.

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http://dx.doi.org/10.1097/MPG.0000000000001453DOI Listing
April 2017

IBD-Like Features in Syndromic Diarrhea/Trichohepatoenteric Syndrome.

J Pediatr Gastroenterol Nutr 2017 01;64(1):37-41

*Pediatric Gastroenterology, Hepatology, and Liver Intestinal Transplantation Unit, Hospital Italiano de Buenos Aires, Buenos Aires, Argentina †Nutrition et Gastroentérologie Pédiatriques, Hôpital Armand-Trousseau ‡UMR_S U1166 Nutriomics, UPMC, Sorbonne University, Paris, France §Pediatric Department, Hospital Italiano de Buenos Aires, Buenos Aires, Argentina ||Département de Génétique Médicale, Hôpital de la Timone Enfant ¶UMR_S 910, Aix-Marseille Université #Service de Pédiatrie Multidisciplinaire, Hôpital de la Timone Enfant, Assistance Publique des Hôpitaux de Marseille, Marseille, France.

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http://dx.doi.org/10.1097/MPG.0000000000001218DOI Listing
January 2017

Tissue-Specific Regulation of Drosophila NF-x03BA;B Pathway Activation by Peptidoglycan Recognition Protein SC.

J Innate Immun 2016 30;8(1):67-80. Epub 2015 Oct 30.

Institut de Biologie du Dx00E9;veloppement de Marseille, UMR 7288, CNRS, Aix Marseille Universitx00E9;, Marseille, France.

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http://dx.doi.org/10.1159/000437368DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6738878PMC
October 2016

Same Quality but Not the Same Impact: Citations Related to Publications About Celiac Disease in JPGN and AJG.

Authors:
Alexandre Fabre

J Pediatr Gastroenterol Nutr 2016 Apr;62(4):e38

Service de pédiatrie multidisciplinaire, Assistance Publique des Hopitaux de Marseille, Marseille, France.

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http://dx.doi.org/10.1097/MPG.0000000000001061DOI Listing
April 2016

Antioxidant potential is correlated to ω6 / ω3 ratio and Brasfield score in cystic fibrosis children.

Int J Vitam Nutr Res 2013 ;83(6):325-34

Unité de Gastroentérologie, Hépatologie, Nutrition et Diabétologie, Hôpital des Enfants, CHU Toulouse, France, and INSERM U1043, Toulouse, France, and CNRS, U5282, Toulouse, France, and Université de Toulouse, UPS, Centre de Physiopathologie de Toulouse Purpan (CPTP), Toulouse, France.

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http://dx.doi.org/10.1024/0300-9831/a000174DOI Listing
February 2015

The SKIV2L RNA exosome limits activation of the RIG-I-like receptors.

Nat Immunol 2014 Sep 27;15(9):839-45. Epub 2014 Jul 27.

Department of Immunology, University of Washington School of Medicine, Seattle, Washington, USA.

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http://dx.doi.org/10.1038/ni.2948DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4139417PMC
September 2014

Evaluation of serum lipase as predictor of severity of acute pancreatitis in children.

J Pediatr Gastroenterol Nutr 2014 Apr;58(4):e41-2

*Service de Pédiatrie Multidisciplinaire, Hopital des Enfants de la Timone, AP-HM †Aix-Marseille University, UMR912 SESSTIM (INSERM, IRD, AMU) ‡Unité de Gastroentérologie, Hépatologie, Nutrition et Diabétologie, Hôpital des Enfants, CHU Toulouse, Toulouse, France.

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http://content.wkhealth.com/linkback/openurl?sid=WKPTLP:land
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http://dx.doi.org/10.1097/MPG.0000000000000307DOI Listing
April 2014

Human Mendelian diseases related to abnormalities of the RNA exosome or its cofactors.

Intractable Rare Dis Res 2014 Feb;3(1):8-11

UMR_S 910, Aix-Marseille Université, Marseille, France; ; Service de Génétique Moléculaire, Hôpital des Enfants de la Timone, APHM, Marseille, France.

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http://dx.doi.org/10.5582/irdr.3.8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4204543PMC
February 2014

Assessment of quality of life of the children and parents affected by inborn errors of metabolism with restricted diet: preliminary results of a cross-sectional study.

Health Qual Life Outcomes 2013 Sep 19;11:158. Epub 2013 Sep 19.

EA3279, Self-perceived Health Assessment Research Unit, School of Medicine, Université de la Méditerranée, 27 bd Jean Moulin, Marseille 13385, France.

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http://dx.doi.org/10.1186/1477-7525-11-158DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3848736PMC
September 2013

Syndromic diarrhea/Tricho-hepato-enteric syndrome.

Orphanet J Rare Dis 2013 Jan 9;8. Epub 2013 Jan 9.

UMR_S 910, Inserm-Faculté de Médecine, Aix-Marseille Université, 13385 Marseille, France.

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http://dx.doi.org/10.1186/1750-1172-8-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3560276PMC
January 2013

Severity scores in children with acute pancreatitis.

J Pediatr Gastroenterol Nutr 2012 Sep;55(3):266-7

Service de Pédiatrie Multidisciplinaire, Hôpital des Enfants de la Timone, APHM, Marseille, France.

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http://dx.doi.org/10.1097/MPG.0b013e318254c1c7DOI Listing
September 2012

[Vasoactive intestinal polypeptide-secreting diffuse ganglioneuromatosis affecting the small intestine and the colon in an infant: an exceptional inaugural manifestation of NF1].

Ann Pathol 2012 Feb 27;32(1):58-64. Epub 2012 Jan 27.

Service d'anatomie pathologique et de neuropathologie, hôpital Timone-Adultes, Assistance publique-Hôpitaux de Marseille, 264, rue Saint-Pierre, 13005 Marseille, France.

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http://dx.doi.org/10.1016/j.annpat.2011.10.007DOI Listing
February 2012

Intractable diarrhea with "phenotypic anomalies" and tricho-hepato-enteric syndrome: two names for the same disorder.

Am J Med Genet A 2007 Mar;143A(6):584-8

Multidisciplinary Paediatric Department, Children Hospital of "La Timone", Boulevard Jean Moulin, Marseille Cedex, France.

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http://doi.wiley.com/10.1002/ajmg.a.31634
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http://dx.doi.org/10.1002/ajmg.a.31634DOI Listing
March 2007