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Items: 1 to 20 of 32

1.

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

Giovannini-Chami L, Vogel TP, Forbes LR, Fabre A, Trojani MC, Leroy S, Antunes O, Vincent-Mefitiot N, Hiéronimus S, Baque-Juston M, Roux C, Tieulié N.

Rheumatology (Oxford). 2018 Oct 8. doi: 10.1093/rheumatology/key308. [Epub ahead of print] No abstract available.

PMID:
30299506
2.

Combined Immunodeficiency in Patients With Trichohepatoenteric Syndrome.

Vély F, Barlogis V, Marinier E, Coste ME, Dubern B, Dugelay E, Lemale J, Martinez-Vinson C, Peretti N, Perry A, Bourgeois P, Badens C, Goulet O, Hugot JP, Farnarier C, Fabre A.

Front Immunol. 2018 May 11;9:1036. doi: 10.3389/fimmu.2018.01036. eCollection 2018.

3.

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

Charbit-Henrion F, Parlato M, Hanein S, Duclaux-Loras R, Nowak J, Begue B, Rakotobe S, Bruneau J, Fourrage C, Alibeu O, Rieux-Laucat F, Lévy E, Stolzenberg MC, Mazerolles F, Latour S, Lenoir C, Fischer A, Picard C, Aloi M, Amil Dias J, Ben Hariz M, Bourrier A, Breuer C, Breton A, Bronski J, Buderus S, Cananzi M, Coopman S, Crémilleux C, Dabadie A, Dumant-Forest C, Egritas Gurkan O, Fabre A, Fischer A, German Diaz M, Gonzalez-Lama Y, Goulet O, Guariso G, Gurcan N, Homan M, Hugot JP, Jeziorski E, Karanika E, Lachaux A, Lewindon P, Lima R, Magro F, Major J, Malamut G, Mas E, Mattyus I, Mearin LM, Melek J, Navas-Lopez VM, Paerregaard A, Pelatan C, Pigneur B, Pinto Pais I, Rebeuh J, Romano C, Siala N, Strisciuglio C, Tempia-Caliera M, Tounian P, Turner D, Urbonas V, Willot S, Ruemmele FM, Cerf-Bensussan N.

J Crohns Colitis. 2018 May 18. doi: 10.1093/ecco-jcc/jjy068. [Epub ahead of print]

4.

Germline Hemizygous Deletion of Gene HNF1B Associated with a Case of Severe Neonatal Cholestasis and Hepatocarcinoma.

de Leusse C, De Paula AM, Ascherod A, Parache C, Geraldine H, Cailliez M, Missirian C, Fabre A.

J Pediatr Gastroenterol Nutr. 2018 Apr 27. doi: 10.1097/MPG.0000000000002015. [Epub ahead of print] No abstract available.

PMID:
29727438
5.

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

Fabre A, Marchal S, Forbes LR, Vogel TP, Barlogis V, Triolo V, Rohrlich PS, Bérard E, Frankel D, Ambrosetti D, Soler C, Hoflack M, Baque M, Bosdure E, Baravalle M, Carsin A, Dubus JC, Giovannini-Chami L.

Am J Respir Crit Care Med. 2018 Jun 1;197(11):e22-e23. doi: 10.1164/rccm.201707-1500IM. No abstract available.

PMID:
29590538
6.

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

Bourgeois P, Esteve C, Chaix C, Béroud C, Lévy N; THES clinical consortium, Fabre A, Badens C.

Hum Mutat. 2018 Jun;39(6):774-789. doi: 10.1002/humu.23418. Epub 2018 Mar 25.

PMID:
29527791
7.

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

Esteve C, Francescatto L, Tan PL, Bourchany A, De Leusse C, Marinier E, Blanchard A, Bourgeois P, Brochier-Armanet C, Bruel AL, Delarue A, Duffourd Y, Ecochard-Dugelay E, Hery G, Huet F, Gauchez P, Gonzales E, Guettier-Bouttier C, Komuta M, Lacoste C, Maudinas R, Mazodier K, Rimet Y, Rivière JB, Roquelaure B, Sigaudy S, Stephenne X, Thauvin-Robinet C, Thevenon J, Sarles J, Levy N, Badens C, Goulet O, Hugot JP, Katsanis N, Faivre L, Fabre A.

Am J Hum Genet. 2018 Mar 1;102(3):364-374. doi: 10.1016/j.ajhg.2018.01.009. Epub 2018 Feb 8.

8.

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.

Fabre A, Petit LM, Hansen LF, Wewer AV, Esteve C, Chaix C, Bourgeois P, Badens C, Paerregaard A.

Am J Med Genet A. 2018 Mar;176(3):727-732. doi: 10.1002/ajmg.a.38618. Epub 2018 Jan 31.

PMID:
29383842
9.

Trichohepatoenteric Syndrome.

Fabre A, Bourgeois P, Chaix C, Bertaux K, Goulet O, Badens C.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2018 Jan 11.

10.

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

Neves JF, Afonso I, Borrego L, Martins C, Cordeiro AI, Neves C, Lacoste C, Badens C, Fabre A.

Eur J Med Genet. 2018 Apr;61(4):185-188. doi: 10.1016/j.ejmg.2017.11.014. Epub 2017 Nov 23.

PMID:
29174094
11.

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

Fabre A, Bourgeois P, Coste ME, Roman C, Barlogis V, Badens C.

Intractable Rare Dis Res. 2017 Aug;6(3):152-157. doi: 10.5582/irdr.2017.01040. Review.

12.

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

Fabre A, Roman C, Roquelaure B.

Med Hypotheses. 2017 May;102:91-93. doi: 10.1016/j.mehy.2017.03.015. Epub 2017 Mar 9.

PMID:
28478841
13.

IBD-Like Features in Syndromic Diarrhea/Trichohepatoenteric Syndrome.

Busoni VB, Lemale J, Dubern B, Frangi F, Bourgeois P, Orsi M, Badens C, Fabre A.

J Pediatr Gastroenterol Nutr. 2017 Jan;64(1):37-41. doi: 10.1097/MPG.0000000000001218.

PMID:
28027214
14.

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

Jeanniard-Malet O, Duché M, Fabre A.

J Pediatr Gastroenterol Nutr. 2017 Apr;64(4):524-527. doi: 10.1097/MPG.0000000000001453.

PMID:
27801752
15.

Increased Gut Redox and Depletion of Anaerobic and Methanogenic Prokaryotes in Severe Acute Malnutrition.

Million M, Tidjani Alou M, Khelaifia S, Bachar D, Lagier JC, Dione N, Brah S, Hugon P, Lombard V, Armougom F, Fromonot J, Robert C, Michelle C, Diallo A, Fabre A, Guieu R, Sokhna C, Henrissat B, Parola P, Raoult D.

Sci Rep. 2016 May 17;6:26051. doi: 10.1038/srep26051.

16.

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

Fabre A, Mancini J.

Pediatr Emerg Care. 2017 Oct;33(10):686-689. doi: 10.1097/PEC.0000000000000663.

PMID:
26855339
17.

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

Fabre A.

J Pediatr Gastroenterol Nutr. 2016 Apr;62(4):e38. doi: 10.1097/MPG.0000000000001061. No abstract available.

PMID:
26650103
18.

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

Costechareyre D, Capo F, Fabre A, Chaduli D, Kellenberger C, Roussel A, Charroux B, Royet J.

J Innate Immun. 2016;8(1):67-80. doi: 10.1159/000437368. Epub 2015 Oct 30.

19.

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

Fabre A, Caspar-Bauguil S, Gaudart J, Mancini J, Garcia J, Mittaine M, Rittié JL, Brémont F, Mas E.

Int J Vitam Nutr Res. 2013;83(6):325-34. doi: 10.1024/0300-9831/a000174.

PMID:
25497776
20.

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

Fabre A, Badens C.

Intractable Rare Dis Res. 2014 Feb;3(1):8-11. doi: 10.5582/irdr.3.8. Review.

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