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Items: 1 to 20 of 270

1.

Identification of partial SLC20A2 deletions in primary brain calcification using whole-exome sequencing.

David S, Ferreira J, Quenez O, Rovelet-Lecrux A, Richard AC, Vérin M, Jurici S, Le Ber I, Boland A, Deleuze JF, Frebourg T, Mendes de Oliveira JR, Hannequin D, Campion D, Nicolas G.

Eur J Hum Genet. 2016 Jun 1. doi: 10.1038/ejhg.2016.50. [Epub ahead of print]

PMID:
27245298
2.

First-line treatment of advanced epidermal growth factor receptor (EGFR) mutation positive non-squamous non-small cell lung cancer.

Greenhalgh J, Dwan K, Boland A, Bates V, Vecchio F, Dundar Y, Jain P, Green JA.

Cochrane Database Syst Rev. 2016 May 25;(5):CD010383. doi: 10.1002/14651858.CD010383.pub2. Review.

PMID:
27223332
3.

CNTN6 mutations are risk factors for abnormal auditory sensory perception in autism spectrum disorders.

Mercati O, Huguet G, Danckaert A, André-Leroux G, Maruani A, Bellinzoni M, Rolland T, Gouder L, Mathieu A, Buratti J, Amsellem F, Benabou M, Van-Gils J, Beggiato A, Konyukh M, Bourgeois JP, Gazzellone MJ, Yuen RK, Walker S, Delépine M, Boland A, Régnault B, Francois M, Van Den Abbeele T, Mosca-Boidron AL, Faivre L, Shimoda Y, Watanabe K, Bonneau D, Rastam M, Leboyer M, Scherer SW, Gillberg C, Delorme R, Cloëz-Tayarani I, Bourgeron T.

Mol Psychiatry. 2016 May 10. doi: 10.1038/mp.2016.61. [Epub ahead of print]

PMID:
27166760
4.

EGR2 mutation enhances phenotype spectrum of Dejerine-Sottas syndrome.

Gargaun E, Seferian AM, Cardas R, Le Moing AG, Delanoe C, Nectoux J, Nelson I, Bonne G, Bihoreau MT, Deleuze JF, Boland A, Masson C, Servais L, Gidaro T.

J Neurol. 2016 Jul;263(7):1456-8. doi: 10.1007/s00415-016-8153-9. Epub 2016 May 9. No abstract available.

PMID:
27159987
5.

ABCA7 rare variants and Alzheimer disease risk.

Le Guennec K, Nicolas G, Quenez O, Charbonnier C, Wallon D, Bellenguez C, Grenier-Boley B, Rousseau S, Richard AC, Rovelet-Lecrux A, Bacq D, Garnier JG, Olaso R, Boland A, Meyer V, Deleuze JF, Amouyel P, Munter HM, Bourque G, Lathrop M, Frebourg T, Redon R, Letenneur L, Dartigues JF, Pasquier F, Rollin-Sillaire A, Génin E, Lambert JC, Hannequin D, Campion D; CNR-MAJ collaborators.

Neurology. 2016 Jun 7;86(23):2134-7. doi: 10.1212/WNL.0000000000002627. Epub 2016 Apr 1.

PMID:
27037229
6.

In vitro effects of 1α,25(OH)2D3-glycosides from Solbone A (Solanum glaucophyllum leaves extract; Herbonis AG) compared to synthetic 1α,25(OH)2D3 on myogenesis.

Gili V, Pardo VG, Ronda AC, De Genaro P, Bachmann H, Boland R, de Boland AR.

Steroids. 2016 May;109:7-15. doi: 10.1016/j.steroids.2016.03.002. Epub 2016 Mar 8.

PMID:
26968127
7.

Dietary Protein Intake and Lean Muscle Mass in Survivors of Childhood Acute Lymphoblastic Leukemia: Report From the St. Jude Lifetime Cohort Study.

Boland AM, Gibson TM, Lu L, Kaste SC, DeLany JP, Partin RE, Lanctot JQ, Howell CR, Nelson HH, Chemaitilly W, Pui CH, Robison LL, Mulrooney DA, Hudson MM, Ness KK.

Phys Ther. 2016 Jul;96(7):1029-38. doi: 10.2522/ptj.20150507. Epub 2016 Feb 18.

PMID:
26893509
8.

A genome-wide association study of pulmonary tuberculosis in Morocco.

Grant AV, Sabri A, Abid A, Abderrahmani Rhorfi I, Benkirane M, Souhi H, Naji Amrani H, Alaoui-Tahiri K, Gharbaoui Y, Lazrak F, Sentissi I, Manessouri M, Belkheiri S, Zaid S, Bouraqadi A, El Amraoui N, Hakam M, Belkadi A, Orlova M, Boland A, Deswarte C, Amar L, Bustamante J, Boisson-Dupuis S, Casanova JL, Schurr E, El Baghdadi J, Abel L.

Hum Genet. 2016 Mar;135(3):299-307. doi: 10.1007/s00439-016-1633-2. Epub 2016 Jan 14.

PMID:
26767831
9.

Heller myotomy with esophageal diverticulectomy: an operation in need of improvement.

Bowman TA, Sadowitz BD, Ross SB, Boland A, Luberice K, Rosemurgy AS.

Surg Endosc. 2016 Aug;30(8):3279-88. doi: 10.1007/s00464-015-4655-2. Epub 2015 Dec 10.

PMID:
26659233
10.

Improving end-of-life communication between primary and secondary care within respiratory medicine.

Boland AC, Hodgekiss C, Hicks F, Edwards A, Clifton IJ.

Eur Respir J. 2016 Feb;47(2):658-60. doi: 10.1183/13993003.01549-2015. Epub 2015 Dec 2. No abstract available.

PMID:
26647434
11.

In Vitro and In Vivo Modulation of Alternative Splicing by the Biguanide Metformin.

Laustriat D, Gide J, Barrault L, Chautard E, Benoit C, Auboeuf D, Boland A, Battail C, Artiguenave F, Deleuze JF, Bénit P, Rustin P, Franc S, Charpentier G, Furling D, Bassez G, Nissan X, Martinat C, Peschanski M, Baghdoyan S.

Mol Ther Nucleic Acids. 2015 Nov 3;4:e262. doi: 10.1038/mtna.2015.35.

12.

The clinical effectiveness and cost-effectiveness of the PROGENSA® prostate cancer antigen 3 assay and the Prostate Health Index in the diagnosis of prostate cancer: a systematic review and economic evaluation.

Nicholson A, Mahon J, Boland A, Beale S, Dwan K, Fleeman N, Hockenhull J, Dundar Y.

Health Technol Assess. 2015 Oct;19(87):i-xxxi, 1-191. doi: 10.3310/hta19870. Review.

13.

Mosaic parental germline mutations causing recurrent forms of malformations of cortical development.

Zillhardt JL, Poirier K, Broix L, Lebrun N, Elmorjani A, Martinovic J, Saillour Y, Muraca G, Nectoux J, Bessieres B, Fallet-Bianco C, Lyonnet S, Dulac O, Odent S, Rejeb I, Ben Jemaa L, Rivier F, Pinson L, Geneviève D, Musizzano Y, Bigi N, Leboucq N, Giuliano F, Philip N, Vilain C, Van Bogaert P, Maurey H, Beldjord C, Artiguenave F, Boland A, Olaso R, Masson C, Nitschké P, Deleuze JF, Bahi-Buisson N, Chelly J.

Eur J Hum Genet. 2016 Apr;24(4):611-4. doi: 10.1038/ejhg.2015.192. Epub 2015 Sep 23.

PMID:
26395554
14.

SORL1 rare variants: a major risk factor for familial early-onset Alzheimer's disease.

Nicolas G, Charbonnier C, Wallon D, Quenez O, Bellenguez C, Grenier-Boley B, Rousseau S, Richard AC, Rovelet-Lecrux A, Le Guennec K, Bacq D, Garnier JG, Olaso R, Boland A, Meyer V, Deleuze JF, Amouyel P, Munter HM, Bourque G, Lathrop M, Frebourg T, Redon R, Letenneur L, Dartigues JF, Génin E, Lambert JC, Hannequin D, Campion D; CNR-MAJ collaborators.

Mol Psychiatry. 2016 Jun;21(6):831-6. doi: 10.1038/mp.2015.121. Epub 2015 Aug 25.

PMID:
26303663
15.

Screening of dementia genes by whole-exome sequencing in early-onset Alzheimer disease: input and lessons.

Nicolas G, Wallon D, Charbonnier C, Quenez O, Rousseau S, Richard AC, Rovelet-Lecrux A, Coutant S, Le Guennec K, Bacq D, Garnier JG, Olaso R, Boland A, Meyer V, Deleuze JF, Munter HM, Bourque G, Auld D, Montpetit A, Lathrop M, Guyant-Maréchal L, Martinaud O, Pariente J, Rollin-Sillaire A, Pasquier F, Le Ber I, Sarazin M, Croisile B, Boutoleau-Bretonnière C, Thomas-Antérion C, Paquet C, Sauvée M, Moreaud O, Gabelle A, Sellal F, Ceccaldi M, Chamard L, Blanc F, Frebourg T, Campion D, Hannequin D.

Eur J Hum Genet. 2016 May;24(5):710-6. doi: 10.1038/ejhg.2015.173. Epub 2015 Aug 5.

PMID:
26242991
16.

De novo deleterious genetic variations target a biological network centered on Aβ peptide in early-onset Alzheimer disease.

Rovelet-Lecrux A, Charbonnier C, Wallon D, Nicolas G, Seaman MN, Pottier C, Breusegem SY, Mathur PP, Jenardhanan P, Le Guennec K, Mukadam AS, Quenez O, Coutant S, Rousseau S, Richard AC, Boland A, Deleuze JF, Frebourg T, Hannequin D, Campion D; CNR-MAJ collaborators.

Mol Psychiatry. 2015 Sep;20(9):1046-56. doi: 10.1038/mp.2015.100. Epub 2015 Jul 21.

PMID:
26194182
17.

Rare ACTG1 variants in fetal microlissencephaly.

Poirier K, Martinovic J, Laquerrière A, Cavallin M, Fallet-Bianco C, Desguerre I, Valence S, Grande-Goburghun J, Francannet C, Deleuze JF, Boland A, Chelly J, Bahi-Buisson N.

Eur J Med Genet. 2015 Aug;58(8):416-8. doi: 10.1016/j.ejmg.2015.06.006. Epub 2015 Jul 16.

PMID:
26188271
18.

Erlotinib and gefitinib for treating non-small cell lung cancer that has progressed following prior chemotherapy (review of NICE technology appraisals 162 and 175): a systematic review and economic evaluation.

Greenhalgh J, Bagust A, Boland A, Dwan K, Beale S, Hockenhull J, Proudlove C, Dundar Y, Richardson M, Dickson R, Mullard A, Marshall E.

Health Technol Assess. 2015 Jun;19(47):1-134. doi: 10.3310/hta19470. Review.

19.
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