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Items: 15

1.

Adult T-cell acute lymphoblastic leukemias with IL7R pathway mutations are slow-responders who do not benefit from allogeneic stem-cell transplantation.

Kim R, Boissel N, Touzart A, Leguay T, Thonier F, Thomas X, Raffoux E, Huguet F, Villarese P, Fourrage C, Passini L, Hunault M, Lepretre S, Chevallier P, Braun T, Lhéritier V, Chantepie S, Maury S, Escoffre M, Tavernier E, Chalandon Y, Graux C, Macintyre E, Ifrah N, Asnafi V, Dombret H, Lhermitte L; on behalf the GRAALL group.

Leukemia. 2020 Jan 28. doi: 10.1038/s41375-019-0685-4. [Epub ahead of print]

PMID:
31992840
2.

NHP2 deficiency impairs rRNA biogenesis and causes pulmonary fibrosis and Høyeraal-Hreidarsson syndrome.

Benyelles M, O'Donohue MF, Kermasson L, Lainey E, Borie R, Lagresle-Peyrou C, Nunes H, Cazelles C, Fourrage C, Ollivier E, Marcais A, Gamez AS, Morice-Picard F, Caillaud D, Pottier N, Ménard C, Ba I, Fernandes A, Crestani B, de Villartay JP, Gleizes PE, Callebaut I, Kannengiesser C, Revy P.

Hum Mol Genet. 2020 Jan 27. pii: ddaa011. doi: 10.1093/hmg/ddaa011. [Epub ahead of print]

PMID:
31985013
3.

Severe type I interferonopathy and unrestrained interferon signaling due to a homozygous germline mutation in STAT2.

Duncan CJA, Thompson BJ, Chen R, Rice GI, Gothe F, Young DF, Lovell SC, Shuttleworth VG, Brocklebank V, Corner B, Skelton AJ, Bondet V, Coxhead J, Duffy D, Fourrage C, Livingston JH, Pavaine J, Cheesman E, Bitetti S, Grainger A, Acres M, Innes BA, Mikulasova A, Sun R, Hussain R, Wright R, Wynn R, Zarhrate M, Zeef LAH, Wood K, Hughes SM, Harris CL, Engelhardt KR, Crow YJ, Randall RE, Kavanagh D, Hambleton S, Briggs TA.

Sci Immunol. 2019 Dec 13;4(42). pii: eaav7501. doi: 10.1126/sciimmunol.aav7501.

PMID:
31836668
4.

Pediatric Evans syndrome is associated with a high frequency of potentially damaging variants in immune genes.

Hadjadj J, Aladjidi N, Fernandes H, Leverger G, Magérus-Chatinet A, Mazerolles F, Stolzenberg MC, Jacques S, Picard C, Rosain J, Fourrage C, Hanein S, Zarhrate M, Pasquet M, Abou Chahla W, Barlogis V, Bertrand Y, Pellier I, Colomb Bottollier E, Fouyssac F, Blouin P, Thomas C, Cheikh N, Dore E, Pondarre C, Plantaz D, Jeziorski E, Millot F, Garcelon N, Ducassou S, Perel Y, Leblanc T, Neven B, Fischer A, Rieux-Laucat F; members of the French Reference Center for Pediatric Autoimmune Cytopenia (CEREVANCE).

Blood. 2019 Jul 4;134(1):9-21. doi: 10.1182/blood-2018-11-887141. Epub 2019 Apr 2.

PMID:
30940614
5.

The genome of the jellyfish Clytia hemisphaerica and the evolution of the cnidarian life-cycle.

Leclère L, Horin C, Chevalier S, Lapébie P, Dru P, Peron S, Jager M, Condamine T, Pottin K, Romano S, Steger J, Sinigaglia C, Barreau C, Quiroga Artigas G, Ruggiero A, Fourrage C, Kraus JEM, Poulain J, Aury JM, Wincker P, Quéinnec E, Technau U, Manuel M, Momose T, Houliston E, Copley RR.

Nat Ecol Evol. 2019 May;3(5):801-810. doi: 10.1038/s41559-019-0833-2. Epub 2019 Mar 11.

PMID:
30858591
6.

APOL1 risk genotype in European steroid-resistant nephrotic syndrome and/or focal segmental glomerulosclerosis patients of different African ancestries.

Gribouval O, Boyer O, Knebelmann B, Karras A, Dantal J, Fourrage C, Alibeu O, Hogan J, Dossier C, Tête MJ, Antignac C, Servais A.

Nephrol Dial Transplant. 2019 Nov 1;34(11):1885-1893. doi: 10.1093/ndt/gfy176.

PMID:
29992269
7.

Assessment of a Targeted Gene Panel for Identification of Genes Associated With Movement Disorders.

Montaut S, Tranchant C, Drouot N, Rudolf G, Guissart C, Tarabeux J, Stemmelen T, Velt A, Fourrage C, Nitschké P, Gerard B, Mandel JL, Koenig M, Chelly J, Anheim M; French Parkinson’s and Movement Disorders Consortium.

JAMA Neurol. 2018 Oct 1;75(10):1234-1245. doi: 10.1001/jamaneurol.2018.1478.

8.

Diagnostic Yield of Next-generation Sequencing in Very Early-onset Inflammatory Bowel Diseases: A Multicentre 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, Dias JA, Hariz MB, Bourrier A, Breuer C, Breton A, Bronski J, Buderus S, Cananzi M, Coopman S, Crémilleux C, Dabadie A, Dumant-Forest C, Gurkan OE, Fabre A, Fischer A, Diaz MG, 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, Pais IP, 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 Aug 29;12(9):1104-1112. doi: 10.1093/ecco-jcc/jjy068.

9.

Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract.

Heidet L, Morinière V, Henry C, De Tomasi L, Reilly ML, Humbert C, Alibeu O, Fourrage C, Bole-Feysot C, Nitschké P, Tores F, Bras M, Jeanpierre M, Pietrement C, Gaillard D, Gonzales M, Novo R, Schaefer E, Roume J, Martinovic J, Malan V, Salomon R, Saunier S, Antignac C, Jeanpierre C.

J Am Soc Nephrol. 2017 Oct;28(10):2901-2914. doi: 10.1681/ASN.2017010043. Epub 2017 May 31.

10.

No correlation between mtDNA amount and methylation levels at the CpG island of POLG exon 2 in wild-type and mutant human differentiated cells.

Steffann J, Pouliet A, Adjal H, Bole C, Fourrage C, Martinovic J, Rolland-Galmiche L, Rotig A, Tores F, Munnich A, Bonnefont JP.

J Med Genet. 2017 May;54(5):324-329. doi: 10.1136/jmedgenet-2016-104335. Epub 2017 Jan 9.

PMID:
28069933
11.

Recurrent KIF2A mutations are responsible for classic lissencephaly.

Cavallin M, Bijlsma EK, El Morjani A, Moutton S, Peeters EA, Maillard C, Pedespan JM, Guerrot AM, Drouin-Garaud V, Coubes C, Genevieve D, Bole-Feysot C, Fourrage C, Steffann J, Bahi-Buisson N.

Neurogenetics. 2017 Apr;18(2):73-79. doi: 10.1007/s10048-016-0499-8. Epub 2016 Oct 17.

PMID:
27747449
12.

The ESCRT-II proteins are involved in shaping the sarcoplasmic reticulum in C. elegans.

Lefebvre C, Largeau C, Michelet X, Fourrage C, Maniere X, Matic I, Legouis R, Culetto E.

J Cell Sci. 2016 Apr 1;129(7):1490-9. doi: 10.1242/jcs.178467. Epub 2016 Feb 18.

13.

ADCK4-Associated Glomerulopathy Causes Adolescence-Onset FSGS.

Korkmaz E, Lipska-Ziętkiewicz BS, Boyer O, Gribouval O, Fourrage C, Tabatabaei M, Schnaidt S, Gucer S, Kaymaz F, Arici M, Dinckan A, Mir S, Bayazit AK, Emre S, Balat A, Rees L, Shroff R, Bergmann C, Mourani C, Antignac C, Ozaltin F, Schaefer F; PodoNet Consortium.

J Am Soc Nephrol. 2016 Jan;27(1):63-8. doi: 10.1681/ASN.2014121240. Epub 2015 May 12.

14.

An endogenous green fluorescent protein-photoprotein pair in Clytia hemisphaerica eggs shows co-targeting to mitochondria and efficient bioluminescence energy transfer.

Fourrage C, Swann K, Gonzalez Garcia JR, Campbell AK, Houliston E.

Open Biol. 2014 Apr 9;4:130206. doi: 10.1098/rsob.130206.

15.

A highly conserved Poc1 protein characterized in embryos of the hydrozoan Clytia hemisphaerica: localization and functional studies.

Fourrage C, Chevalier S, Houliston E.

PLoS One. 2010 Nov 16;5(11):e13994. doi: 10.1371/journal.pone.0013994.

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