A. Fabre

发表

L. Martinerie, D. Bernoux, L. Giovannini-Chami, 2021, Pediatrics.

Medical thesis publication and academic productivity of pediatric residents at the Medical University of Marseille: Associated factors and evolution over 20 years.

N. Resseguier, A. Fabre, I. Brunod, 2020, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

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

A. Fabre, 2016, Journal of pediatric gastroenterology and nutrition.

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

J. Gaudart, S. Caspar-Bauguil, F. Brémont, 2013, International journal for vitamin and nutrition research. Internationale Zeitschrift fur Vitamin- und Ernahrungsforschung. Journal international de vitaminologie et de nutrition.

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.

Combined Immunodeficiency in Patients With Trichohepatoenteric Syndrome

J. Hugot, E. Dugelay, F. Vély, 2018, Front. Immunol..

A European Survey on Digestive Perianastomotic Ulcerations, a Rare Crohn-like Disorder Occurring in Children and Young Adults

J. Hugot, E. Dugelay, E. Miele, 2021, Journal of pediatric gastroenterology and nutrition.

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.

Pediatric Wilson's Disease: Phenotypic, Genetic Characterization and Outcome of 182 Children in France

J. Dumortier, O. Guillaud, A. Poujois, 2021, Journal of pediatric gastroenterology and nutrition.

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.

Molecular and clinical descriptions of patients with GABAA receptor gene variants ( GABRA1, GABRB2, GABRB3, GABRG2 ): A cohort study, review of literature, and genotype–phenotype correlation

R. Nabbout, D. Ville, B. Desnous, 2022, Epilepsia.

FDG PET and Evaluation of Posttherapeutic Residual Tumors in Pediatric Oncology: Preliminary Experience

J. Gaudart, N. André, E. Guedj, 2008, Journal of pediatric hematology/oncology.

Successful Treatment of Interstitial Lung Disease in STAT3 Gain-of-Function Using JAK Inhibitors.

S. Leroy, L. Forbes, J. Dubus, 2020, American journal of respiratory and critical care medicine.

Syndromic diarrhea/Tricho-hepato-enteric syndrome

O. Goulet, C. Badens, A. Fabre, 2013, Orphanet Journal of Rare Diseases.

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

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

Why and when was lactase persistence selected for? Insights from Central Asian herders and ancient DNA

Laure Ségurel, E. Heyer, S. Lafosse, 2020, PLoS biology.

COVID-19 and Kawasaki Like Disease: The Known-Known, the Unknown-Known and the Unknown-Unknown

A. Fabre, A. Morand, D. Urbina, 2020 .

COVID-19 virus and children: What do we know?

E. Bosdure, P. Minodier, A. Fabre, 2020, Archives de Pédiatrie.

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

F. Rieux-Laucat, A. Fischer, J. Hugot, 2018, Journal of Crohn's & colitis.

[Next-generation DNA sequencing in clinical diagnostics].

C Lacoste, A Fabre, C Pécheux, 2017, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

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

Y. Crow, Elizabeth E Gray, D. Stetson, 2014, Nature Immunology.

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

C. Badens, A. Fabre, 2014, Intractable & rare diseases research.

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

K. Baumstarck, A. Loundou, P. Auquier, 2013, Health and Quality of Life Outcomes.

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

M. Najimi, C. Lombard, E. Sokal, 2019, Stem cells international.

Correlation Between Clinical Signs and High-resolution Manometry Data in Children

M. Alessandrini, K. Baumstarck, F. Gottrand, 2019, Journal of pediatric gastroenterology and nutrition.

Severity Scores in Children With Acute Pancreatitis

J. Sarles, J. Gaudart, P. Petit, 2012, Journal of pediatric gastroenterology and nutrition.

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

P. Rohrlich, P. Barbry, L. Forbes, 2019, The journal of allergy and clinical immunology. In practice.

Genotype-phenotype relationships of truncating mutations, p.E297G and p.D482G in bile salt export pump deficiency

Richard J. Thompson, M. H. Jørgensen, F. Suchy, 2022, JHEP Reports.

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

V. Barlogis, C. Badens, P. Bourgeois, 2017, Intractable & rare diseases research.

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.

Impact of Genotype, Serum Bile Acids, and Surgical Biliary Diversion on Native Liver Survival in FIC1 Deficiency

Richard J. Thompson, P. Rosenthal, F. Suchy, 2021, Hepatology.

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

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

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

C. Béroud, N. Lévy, C. Badens, 2018, Human mutation.

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

K. Schwarz, S. Ehl, C. Klemann, 2019, Clinical immunology.

Comparison of Symptom Control in Pediatric Gastroparesis Using Endoscopic Pyloric Botulinum Toxin Injection and Dilatation

A. Duhamel, D. Ley, F. Gottrand, 2021, Journal of pediatric gastroenterology and nutrition.

IBD-Like Features in Syndromic Diarrhea/Trichohepatoenteric Syndrome

C. Badens, P. Bourgeois, A. Fabre, 2017, Journal of pediatric gastroenterology and nutrition.

A new mutation in the C‐terminal end of TTC37 leading to a mild form of syndromic diarrhea/tricho‐hepato‐enteric syndrome in seven patients from two families

A. Paerregaard, C. Badens, P. Bourgeois, 2018, American journal of medical genetics. Part A.

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.

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

L. Borrego, C. Lacoste, C. Badens, 2017, European journal of medical genetics.

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.

Congenital Sodium Diarrhea by mutation of the SLC9A3 gene.

J. Hugot, C. Badens, C. Buffat, 2019, European journal of medical genetics.

General anesthesia for Crisponi syndrome: case report

F. Audic, A. Fabre, M. Caruselli, 2020, Revista brasileira de anestesiologia.

STAT3 gain of function: a new aetiology of severe rheumatic disease.

S. Leroy, L. Forbes, S. Hiéronimus, 2018, Rheumatology.

STAT3 Gain of Function: A New Kid on the Block in Interstitial Lung Diseases.

P. Rohrlich, L. Forbes, E. Bosdure, 2018, American journal of respiratory and critical care medicine.

Clinical characteristics of paediatric COVID‐19 patients followed for up to 13 months

E. Bosdure, J. Dubus, P. Colson, 2021, Acta paediatrica.

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

A. Fabre, M. Duché, Odile Jeanniard-Malet, 2017, Journal of pediatric gastroenterology and nutrition.

Novel partial loss-of-function variants in the tyrosyl-tRNA synthetase 1 (YARS1) gene involved in multisystem disease.

N. Lévy, F. Blanc, A. D. de Paula, 2021, European journal of medical genetics.

[Publication of pediatric medical dissertations in France].

A. Fabre, 2015, Archives de pédiatrie.

[Infant food diversification: Is the information available on the Internet valid?].

B. Chabrol, A. Fabre, A. Carsin, 2016, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

[Gluten: Is the information available on the Internet valid?]

A. Fabre, T. Banti, L. Fievet, 2017, Archives de pédiatrie.

Health Status of French Young Patients with Inborn Errors of Metabolism with Lifelong Restricted Diet.

P. Auquier, N. Resseguier, P. de Lonlay, 2020, Jornal de Pediatria.

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.].

To each child their own coronavirus

L. Martinerie, D. Bernoux, L. Giovannini-Chami, 2020, BMJ.

Proposed mechanism for the selection of lactase persistence in childhood.

Laure Ségurel, A. Fabre, P. Guerry, 2023, BioEssays : news and reviews in molecular, cellular and developmental biology.

Oral findings in children with congenital cholestatic disease: A systematic review of case reports and case series.

A. Fabre, C. Tardieu, A. Camoin, 2023, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

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.

Monogenic Early-Onset Lymphoproliferation and Autoimmunity: The Natural History of STAT3 GOF Syndrome.

K. Schwarz, M. Weinrich, F. Rieux-Laucat, 2022, The Journal of allergy and clinical immunology.

Corrigendum to: Diagnostic Yield of Next-Generation Sequencing in Very Early-Onset Inflammatory Bowel Diseases: A Multicenter Study

F. Rieux-Laucat, A. Fischer, J. Hugot, 2020, Journal of Crohn's & Colitis.

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

G. Héry, A. Fabre, M. Cailliez, 2019, Journal of pediatric gastroenterology and nutrition.

Deep phenotyping of MARS1 (interstitial lung and liver disease) and LARS1 (infantile liver failure syndrome 1) recessive multisystemic disease using Human Phenotype Ontology annotation: Overlap and differences. Case report and review of literature.

J. Dubus, A. Hadchouel, A. Fabre, 2021, European journal of medical genetics.

[Diagnosis of a rare and severe inflammatory bowel disease in an infant with peri-orificial ulcerations].

A. Fabre, C. Delteil, M. Piercecchi‐Marti, 2021, Annales de pathologie.

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

J. Sarles, J. Gaudart, A. Fabre, 2014, Journal of pediatric gastroenterology and nutrition.