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Items: 17

1.

Early Acute Microvascular Kidney Transplant Rejection in the Absence of Anti-HLA Antibodies Is Associated with Preformed IgG Antibodies against Diverse Glomerular Endothelial Cell Antigens.

Delville M, Lamarthée B, Pagie S, See SB, Rabant M, Burger C, Gatault P, Giral M, Thaunat O, Arzouk N, Hertig A, Hazzan M, Matignon M, Mariat C, Caillard S, Kamar N, Sayegh J, Westeel PF, Garrouste C, Ladrière M, Vuiblet V, Rivalan J, Merville P, Bertrand D, Le Moine A, Van Huyen JPD, Cesbron A, Cagnard N, Alibeu O, Satchell SC, Legendre C, Zorn E, Taupin JL, Charreau B, Anglicheau D.

J Am Soc Nephrol. 2019 Apr;30(4):692-709. doi: 10.1681/ASN.2018080868. Epub 2019 Mar 8.

PMID:
30850439
2.

Loss of ARHGEF1 causes a human primary antibody deficiency.

Bouafia A, Lofek S, Bruneau J, Chentout L, Lamrini H, Trinquand A, Deau MC, Heurtier L, Meignin V, Picard C, Macintyre E, Alibeu O, Bras M, Molina TJ, Cavazzana M, André-Schmutz I, Durandy A, Fischer A, Oksenhendler E, Kracker S.

J Clin Invest. 2019 Mar 1;129(3):1047-1060. doi: 10.1172/JCI120572. Epub 2019 Feb 4.

3.

Optimization of CRISPR/Cas9 Delivery to Human Hematopoietic Stem and Progenitor Cells for Therapeutic Genomic Rearrangements.

Lattanzi A, Meneghini V, Pavani G, Amor F, Ramadier S, Felix T, Antoniani C, Masson C, Alibeu O, Lee C, Porteus MH, Bao G, Amendola M, Mavilio F, Miccio A.

Mol Ther. 2019 Jan 2;27(1):137-150. doi: 10.1016/j.ymthe.2018.10.008. Epub 2018 Oct 17.

PMID:
30424953
4.

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. 2018 Jul 9. doi: 10.1093/ndt/gfy176. [Epub ahead of print]

PMID:
29992269
5.

Role of miR-146a in neural stem cell differentiation and neural lineage determination: relevance for neurodevelopmental disorders.

Nguyen LS, Fregeac J, Bole-Feysot C, Cagnard N, Iyer A, Anink J, Aronica E, Alibeu O, Nitschke P, Colleaux L.

Mol Autism. 2018 Jun 19;9:38. doi: 10.1186/s13229-018-0219-3. eCollection 2018.

6.

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]

7.

Recessive loss of function PIGN alleles, including an intragenic deletion with founder effect in La Réunion Island, in patients with Fryns syndrome.

Alessandri JL, Gordon CT, Jacquemont ML, Gruchy N, Ajeawung NF, Benoist G, Oufadem M, Chebil A, Duffourd Y, Dumont C, Gérard M, Kuentz P, Jouan T, Filippini F, Nguyen TTM, Alibeu O, Bole-Feysot C, Nitschké P, Omarjee A, Ramful D, Randrianaivo H, Doray B, Faivre L, Amiel J, Campeau PM, Thevenon J.

Eur J Hum Genet. 2018 Mar;26(3):340-349. doi: 10.1038/s41431-017-0087-x. Epub 2018 Jan 12.

8.

Pediatric-onset Evans syndrome: Heterogeneous presentation and high frequency of monogenic disorders including LRBA and CTLA4 mutations.

Besnard C, Levy E, Aladjidi N, Stolzenberg MC, Magerus-Chatinet A, Alibeu O, Nitschke P, Blanche S, Hermine O, Jeziorski E, Landman-Parker J, Leverger G, Mahlaoui N, Michel G, Pellier I, Suarez F, Thuret I, de Saint-Basile G, Picard C, Fischer A, Neven B, Rieux-Laucat F, Quartier P; Members of the French reference center for pediatric autoimmune cytopenias (CEREVANCE).

Clin Immunol. 2018 Mar;188:52-57. doi: 10.1016/j.clim.2017.12.009. Epub 2018 Jan 10.

PMID:
29330115
9.

Whole exome sequencing diagnoses the first fetal case of Bainbridge-Ropers syndrome presenting as pontocerebellar hypoplasia type 1.

Bacrot S, Mechler C, Talhi N, Martin-Coignard D, Roth P, Michot C, Ichkou A, Alibeu O, Nitschke P, Thomas S, Vekemans M, Razavi F, Boutaud L, Attie-Bitach T.

Birth Defects Res. 2018 Apr 3;110(6):538-542. doi: 10.1002/bdr2.1191. Epub 2018 Jan 8.

PMID:
29316359
10.

MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence.

Gordon CT, Chopra M, Oufadem M, Alibeu O, Bras M, Boddaert N, Bole-Feysot C, Nitschké P, Abadie V, Lyonnet S, Amiel J.

Am J Med Genet A. 2018 Jan;176(1):181-186. doi: 10.1002/ajmg.a.38536. Epub 2017 Nov 21.

PMID:
29159987
11.

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.

12.

Heterozygous Mutations in MAP3K7, Encoding TGF-β-Activated Kinase 1, Cause Cardiospondylocarpofacial Syndrome.

Le Goff C, Rogers C, Le Goff W, Pinto G, Bonnet D, Chrabieh M, Alibeu O, Nistchke P, Munnich A, Picard C, Cormier-Daire V.

Am J Hum Genet. 2016 Aug 4;99(2):407-13. doi: 10.1016/j.ajhg.2016.06.005. Epub 2016 Jul 14.

13.

Mutations in NONO lead to syndromic intellectual disability and inhibitory synaptic defects.

Mircsof D, Langouët M, Rio M, Moutton S, Siquier-Pernet K, Bole-Feysot C, Cagnard N, Nitschke P, Gaspar L, Žnidarič M, Alibeu O, Fritz AK, Wolfer DP, Schröter A, Bosshard G, Rudin M, Koester C, Crestani F, Seebeck P, Boddaert N, Prescott K; DDD Study, Hines R, Moss SJ, Fritschy JM, Munnich A, Amiel J, Brown SA, Tyagarajan SK, Colleaux L.

Nat Neurosci. 2015 Dec;18(12):1731-6. doi: 10.1038/nn.4169. Epub 2015 Nov 16.

14.

Mutations in SNRPB, encoding components of the core splicing machinery, cause cerebro-costo-mandibular syndrome.

Bacrot S, Doyard M, Huber C, Alibeu O, Feldhahn N, Lehalle D, Lacombe D, Marlin S, Nitschke P, Petit F, Vazquez MP, Munnich A, Cormier-Daire V.

Hum Mutat. 2015 Feb;36(2):187-90. doi: 10.1002/humu.22729. Epub 2014 Dec 11.

PMID:
25504470
15.

Mutations of CEP83 cause infantile nephronophthisis and intellectual disability.

Failler M, Gee HY, Krug P, Joo K, Halbritter J, Belkacem L, Filhol E, Porath JD, Braun DA, Schueler M, Frigo A, Alibeu O, Masson C, Brochard K, Hurault de Ligny B, Novo R, Pietrement C, Kayserili H, Salomon R, Gubler MC, Otto EA, Antignac C, Kim J, Benmerah A, Hildebrandt F, Saunier S.

Am J Hum Genet. 2014 Jun 5;94(6):905-14. doi: 10.1016/j.ajhg.2014.05.002. Epub 2014 May 29.

16.

CE-SSCP and CE-FLA, simple and high-throughput alternatives for fungal diversity studies.

Zinger L, Gury J, Alibeu O, Rioux D, Gielly L, Sage L, Pompanon F, Geremia RA.

J Microbiol Methods. 2008 Jan;72(1):42-53. Epub 2007 Oct 18. Erratum in: J Microbiol Methods. 2008 May;73(2):209.

PMID:
18054096
17.

Phylogenetic analysis of the Aspergillus niger aggregate in relation to feruloyl esterase activity.

Giraud F, Dupont J, Haon M, Bouzid O, Alibeu O, Navarro D, Sage L, Seigle-Murandi F, Asther M, Lesage-Meessen L.

Res Microbiol. 2007 Jun;158(5):413-9. Epub 2007 Apr 7.

PMID:
17531445

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