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Items: 1 to 20 of 249

1.

Blood eosinophil count and airway epithelial transcriptome relationships in COPD versus asthma.

George L, Taylor AR, Esteve-Codina A, Soler Artigas M, Thun GA, Bates S, Pavlidis S, Wagers S, Boland A, Prasse A, Boschetto P, Parr DG, Nowinski A, Barta I, Hohlfeld J, Greulich T, van den Berge M, Hiemstra PS, Timens W, Hinks T, Wenzel S, Siddiqui S, Richardson M, Venge P, Heath S, Gut I, Tobin MD, Edwards L, Riley JH, Djukanovic R, Auffray C, De-Meulder B, Erik-Dahlen S, Adcock IM, Chung KF, Ziegler-Heitbrock L, Sterk PJ, Singh D, Brightling CE; U-BIOPRED and the EvA study teams.

Allergy. 2019 Sep 10. doi: 10.1111/all.14016. [Epub ahead of print]

PMID:
31506971
2.

Genetic susceptibility to radiation-related thyroid cancer: a systematic review.

Zidane M, Cazier JB, Chevillard S, Ory C, Schlumberger M, Dupuy C, Deleuze JF, Boland A, Haddy N, Lesueur F, de Vathaire F.

Endocr Relat Cancer. 2019 Sep 1. pii: ERC-19-0321. doi: 10.1530/ERC-19-0321. [Epub ahead of print] Review.

PMID:
31476737
3.

Integrative and comparative genomic analyses identify clinically relevant pulmonary carcinoid groups and unveil the supra-carcinoids.

Alcala N, Leblay N, Gabriel AAG, Mangiante L, Hervas D, Giffon T, Sertier AS, Ferrari A, Derks J, Ghantous A, Delhomme TM, Chabrier A, Cuenin C, Abedi-Ardekani B, Boland A, Olaso R, Meyer V, Altmuller J, Le Calvez-Kelm F, Durand G, Voegele C, Boyault S, Moonen L, Lemaitre N, Lorimier P, Toffart AC, Soltermann A, Clement JH, Saenger J, Field JK, Brevet M, Blanc-Fournier C, Galateau-Salle F, Le Stang N, Russell PA, Wright G, Sozzi G, Pastorino U, Lacomme S, Vignaud JM, Hofman V, Hofman P, Brustugun OT, Lund-Iversen M, Thomas de Montpreville V, Muscarella LA, Graziano P, Popper H, Stojsic J, Deleuze JF, Herceg Z, Viari A, Nuernberg P, Pelosi G, Dingemans AMC, Milione M, Roz L, Brcic L, Volante M, Papotti MG, Caux C, Sandoval J, Hernandez-Vargas H, Brambilla E, Speel EJM, Girard N, Lantuejoul S, McKay JD, Foll M, Fernandez-Cuesta L.

Nat Commun. 2019 Aug 20;10(1):3407. doi: 10.1038/s41467-019-11276-9.

4.

Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation.

Balak C, Benard M, Schaefer E, Iqbal S, Ramsey K, Ernoult-Lange M, Mattioli F, Llaci L, Geoffroy V, Courel M, Naymik M, Bachman KK, Pfundt R, Rump P, Ter Beest J, Wentzensen IM, Monaghan KG, McWalter K, Richholt R, Le Béchec A, Jepsen W, De Both M, Belnap N, Boland A, Piras IS, Deleuze JF, Szelinger S, Dollfus H, Chelly J, Muller J, Campbell A, Lal D, Rangasamy S, Mandel JL, Narayanan V, Huentelman M, Weil D, Piton A.

Am J Hum Genet. 2019 Sep 5;105(3):509-525. doi: 10.1016/j.ajhg.2019.07.010. Epub 2019 Aug 15.

PMID:
31422817
5.

Author Correction: Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing.

Kunkle BW, Grenier-Boley B, Sims R, Bis JC, Damotte V, Naj AC, Boland A, Vronskaya M, van der Lee SJ, Amlie-Wolf A, Bellenguez C, Frizatti A, Chouraki V, Martin ER, Sleegers K, Badarinarayan N, Jakobsdottir J, Hamilton-Nelson KL, Moreno-Grau S, Olaso R, Raybould R, Chen Y, Kuzma AB, Hiltunen M, Morgan T, Ahmad S, Vardarajan BN, Epelbaum J, Hoffmann P, Boada M, Beecham GW, Garnier JG, Harold D, Fitzpatrick AL, Valladares O, Moutet ML, Gerrish A, Smith AV, Qu L, Bacq D, Denning N, Jian X, Zhao Y, Del Zompo M, Fox NC, Choi SH, Mateo I, Hughes JT, Adams HH, Malamon J, Sanchez-Garcia F, Patel Y, Brody JA, Dombroski BA, Naranjo MCD, Daniilidou M, Eiriksdottir G, Mukherjee S, Wallon D, Uphill J, Aspelund T, Cantwell LB, Garzia F, Galimberti D, Hofer E, Butkiewicz M, Fin B, Scarpini E, Sarnowski C, Bush WS, Meslage S, Kornhuber J, White CC, Song Y, Barber RC, Engelborghs S, Sordon S, Voijnovic D, Adams PM, Vandenberghe R, Mayhaus M, Cupples LA, Albert MS, De Deyn PP, Gu W, Himali JJ, Beekly D, Squassina A, Hartmann AM, Orellana A, Blacker D, Rodriguez-Rodriguez E, Lovestone S, Garcia ME, Doody RS, Munoz-Fernadez C, Sussams R, Lin H, Fairchild TJ, Benito YA, Holmes C, Karamujić-Čomić H, Frosch MP, Thonberg H, Maier W, Roshchupkin G, Ghetti B, Giedraitis V, Kawalia A, Li S, Huebinger RM, Kilander L, Moebus S, Hernández I, Kamboh MI, Brundin R, Turton J, Yang Q, Katz MJ, Concari L, Lord J, Beiser AS, Keene CD, Helisalmi S, Kloszewska I, Kukull WA, Koivisto AM, Lynch A, Tarraga L, Larson EB, Haapasalo A, Lawlor B, Mosley TH, Lipton RB, Solfrizzi V, Gill M, Longstreth WT Jr, Montine TJ, Frisardi V, Diez-Fairen M, Rivadeneira F, Petersen RC, Deramecourt V, Alvarez I, Salani F, Ciaramella A, Boerwinkle E, Reiman EM, Fievet N, Rotter JI, Reisch JS, Hanon O, Cupidi C, Uitterlinden AGA, Royall DR, Dufouil C, Maletta RG, de Rojas I, Sano M, Brice A, Cecchetti R, George-Hyslop PS, Ritchie K, Tsolaki M, Tsuang DW, Dubois B, Craig D, Wu CK, Soininen H, Avramidou D, Albin RL, Fratiglioni L, Germanou A, Apostolova LG, Keller L, Koutroumani M, Arnold SE, Panza F, Gkatzima O, Asthana S, Hannequin D, Whitehead P, Atwood CS, Caffarra P, Hampel H, Quintela I, Carracedo Á, Lannfelt L, Rubinsztein DC, Barnes LL, Pasquier F, Frölich L, Barral S, McGuinness B, Beach TG, Johnston JA, Becker JT, Passmore P, Bigio EH, Schott JM, Bird TD, Warren JD, Boeve BF, Lupton MK, Bowen JD, Proitsi P, Boxer A, Powell JF, Burke JR, Kauwe JSK, Burns JM, Mancuso M, Buxbaum JD, Bonuccelli U, Cairns NJ, McQuillin A, Cao C, Livingston G, Carlson CS, Bass NJ, Carlsson CM, Hardy J, Carney RM, Bras J, Carrasquillo MM, Guerreiro R, Allen M, Chui HC, Fisher E, Masullo C, Crocco EA, DeCarli C, Bisceglio G, Dick M, Ma L, Duara R, Graff-Radford NR, Evans DA, Hodges A, Faber KM, Scherer M, Fallon KB, Riemenschneider M, Fardo DW, Heun R, Farlow MR, Kölsch H, Ferris S, Leber M, Foroud TM, Heuser I, Galasko DR, Giegling I, Gearing M, Hüll M, Geschwind DH, Gilbert JR, Morris J, Green RC, Mayo K, Growdon JH, Feulner T, Hamilton RL, Harrell LE, Drichel D, Honig LS, Cushion TD, Huentelman MJ, Hollingworth P, Hulette CM, Hyman BT, Marshall R, Jarvik GP, Meggy A, Abner E, Menzies GE, Jin LW, Leonenko G, Real LM, Jun GR, Baldwin CT, Grozeva D, Karydas A, Russo G, Kaye JA, Kim R, Jessen F, Kowall NW, Vellas B, Kramer JH, Vardy E, LaFerla FM, Jöckel KH, Lah JJ, Dichgans M, Leverenz JB, Mann D, Levey AI, Pickering-Brown S, Lieberman AP, Klopp N, Lunetta KL, Wichmann HE, Lyketsos CG, Morgan K, Marson DC, Brown K, Martiniuk F, Medway C, Mash DC, Nöthen MM, Masliah E, Hooper NM, McCormick WC, Daniele A, McCurry SM, Bayer A, McDavid AN, Gallacher J, McKee AC, van den Bussche H, Mesulam M, Brayne C, Miller BL, Riedel-Heller S, Miller CA, Miller JW, Al-Chalabi A, Morris JC, Shaw CE, Myers AJ, Wiltfang J, O'Bryant S, Olichney JM, Alvarez V, Parisi JE, Singleton AB, Paulson HL, Collinge J, Perry WR, Mead S, Peskind E, Cribbs DH, Rossor M, Pierce A, Ryan NS, Poon WW, Nacmias B, Potter H, Sorbi S, Quinn JF, Sacchinelli E, Raj A, Spalletta G, Raskind M, Caltagirone C, Bossù P, Orfei MD, Reisberg B, Clarke R, Reitz C, Smith AD, Ringman JM, Warden D, Roberson ED, Wilcock G, Rogaeva E, Bruni AC, Rosen HJ, Gallo M, Rosenberg RN, Ben-Shlomo Y, Sager MA, Mecocci P, Saykin AJ, Pastor P, Cuccaro ML, Vance JM, Schneider JA, Schneider LS, Slifer S, Seeley WW, Smith AG, Sonnen JA, Spina S, Stern RA, Swerdlow RH, Tang M, Tanzi RE, Trojanowski JQ, Troncoso JC, Van Deerlin VM, Van Eldik LJ, Vinters HV, Vonsattel JP, Weintraub S, Welsh-Bohmer KA, Wilhelmsen KC, Williamson J, Wingo TS, Woltjer RL, Wright CB, Yu CE, Yu L, Saba Y; Alzheimer Disease Genetics Consortium (ADGC); European Alzheimer’s Disease Initiative (EADI); Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium (CHARGE); Genetic and Environmental Risk in AD/Defining Genetic, Polygenic and Environmental Risk for Alzheimer’s Disease Consortium (GERAD/PERADES), Pilotto A, Bullido MJ, Peters O, Crane PK, Bennett D, Bosco P, Coto E, Boccardi V, De Jager PL, Lleo A, Warner N, Lopez OL, Ingelsson M, Deloukas P, Cruchaga C, Graff C, Gwilliam R, Fornage M, Goate AM, Sanchez-Juan P, Kehoe PG, Amin N, Ertekin-Taner N, Berr C, Debette S, Love S, Launer LJ, Younkin SG, Dartigues JF, Corcoran C, Ikram MA, Dickson DW, Nicolas G, Campion D, Tschanz J, Schmidt H, Hakonarson H, Clarimon J, Munger R, Schmidt R, Farrer LA, Van Broeckhoven C, O'Donovan MC, DeStefano AL, Jones L, Haines JL, Deleuze JF, Owen MJ, Gudnason V, Mayeux R, Escott-Price V, Psaty BM, Ramirez A, Wang LS, Ruiz A, van Duijn CM, Holmans PA, Seshadri S, Williams J, Amouyel P, Schellenberg GD, Lambert JC, Pericak-Vance MA.

Nat Genet. 2019 Sep;51(9):1423-1424. doi: 10.1038/s41588-019-0495-7.

PMID:
31417202
6.

Mutations in the Heterotopia Gene Eml1/EML1 Severely Disrupt the Formation of Primary Cilia.

Uzquiano A, Cifuentes-Diaz C, Jabali A, Romero DM, Houllier A, Dingli F, Maillard C, Boland A, Deleuze JF, Loew D, Mancini GMS, Bahi-Buisson N, Ladewig J, Francis F.

Cell Rep. 2019 Aug 6;28(6):1596-1611.e10. doi: 10.1016/j.celrep.2019.06.096.

7.

Confirmation and further delineation of the SMG9-deficiency syndrome, a rare and severe developmental disorder.

Lecoquierre F, Bonnevalle A, Chadie A, Gayet C, Dumant-Forest C, Renaux-Petel M, Leca JB, Hazelzet T, Brasseur-Daudruy M, Louillet F, Muraine M, Coutant S, Quenez O, Boland A, Deleuze JF, Frebourg T, Goldenberg A, Saugier-Veber P, Guerrot AM, Nicolas G.

Am J Med Genet A. 2019 Aug 7. doi: 10.1002/ajmg.a.61317. [Epub ahead of print]

PMID:
31390136
8.

Causative Mutations and Genetic Risk Factors in Sporadic Early Onset Alzheimer's Disease Before 51 Years.

Lacour M, Quenez O, Rovelet-Lecrux A, Salomon B, Rousseau S, Richard AC, Quillard-Muraine M, Pasquier F, Rollin-Sillaire A, Martinaud O, Zarea A, de la Sayette V, Boutoleau-Bretonniere C, Etcharry-Bouyx F, Chauviré V, Sarazin M, le Ber I, Epelbaum S, Jonveaux T, Rouaud O, Ceccaldi M, Godefroy O, Formaglio M, Croisile B, Auriacombe S, Magnin E, Sauvée M, Marelli C, Gabelle A, Pariente J, Paquet C, Boland A, Deleuze JF, Campion D, Hannequin D, Nicolas G, Wallon D; collaborators of the CNR-MAJ.

J Alzheimers Dis. 2019;71(1):227-243. doi: 10.3233/JAD-190193.

PMID:
31381512
9.

A Simple, Universal, and Cost-Efficient Digital PCR Method for the Targeted Analysis of Copy Number Variations.

Cassinari K, Quenez O, Joly-Hélas G, Beaussire L, Le Meur N, Castelain M, Goldenberg A, Guerrot AM, Brehin AC, Deleuze JF, Boland A, Rovelet-Lecrux A, Campion D, Saugier-Veber P, Gruchy N, Frebourg T, Nicolas G, Sarafan-Vasseur N, Chambon P.

Clin Chem. 2019 Sep;65(9):1153-1160. doi: 10.1373/clinchem.2019.304246. Epub 2019 Jul 10.

PMID:
31292136
10.

Report on three additional patients and genotype-phenotype correlation in SLC25A22-related disorders group.

Lemattre C, Imbert-Bouteille M, Gatinois V, Benit P, Sanchez E, Guignard T, Tran Mau-Them F, Haquet E, Rivier F, Carme E, Roubertie A, Boland A, Lechner D, Meyer V, Thevenon J, Duffourd Y, Rivière JB, Deleuze JF, Wells C, Molinari F, Rustin P, Blanchet P, Geneviève D.

Eur J Hum Genet. 2019 Jul 8. doi: 10.1038/s41431-019-0433-2. [Epub ahead of print]

PMID:
31285529
11.

Cenegermin for Treating Neurotrophic Keratitis: An Evidence Review Group Perspective of a NICE Single Technology Appraisal.

Fleeman N, Mahon J, Nevitt S, Duarte R, Boland A, Kotas E, Dundar Y, McEntee J, Ahmad S.

Pharmacoecon Open. 2019 Jun 25. doi: 10.1007/s41669-019-0138-z. [Epub ahead of print] Review.

12.

Sex specific associations in genome wide association analysis of renal cell carcinoma.

Laskar RS, Muller DC, Li P, Machiela MJ, Ye Y, Gaborieau V, Foll M, Hofmann JN, Colli L, Sampson JN, Wang Z, Bacq-Daian D, Boland A, Abedi-Ardekani B, Durand G, Le Calvez-Kelm F, Robinot N, Blanche H, Prokhortchouk E, Skryabin KG, Burdett L, Yeager M, Radojevic-Skodric S, Savic S, Foretova L, Holcatova I, Janout V, Mates D, Rascu S, Mukeria A, Zaridze D, Bencko V, Cybulski C, Fabianova E, Jinga V, Lissowska J, Lubinski J, Navratilova M, Rudnai P, Świątkowska B, Benhamou S, Cancel-Tassin G, Cussenot O, Trichopoulou A, Riboli E, Overvad K, Panico S, Ljungberg B, Sitaram RT, Giles GG, Milne RL, Severi G, Bruinsma F, Fletcher T, Koppova K, Larsson SC, Wolk A, Banks RE, Selby PJ, Easton DF, Pharoah P, Andreotti G, Beane Freeman LE, Koutros S, Albanes D, Männistö S, Weinstein S, Clark PE, Edwards TL, Lipworth L, Carol H, Freedman ML, Pomerantz MM, Cho E, Kraft P, Preston MA, Wilson KM, Michael Gaziano J, Sesso HD, Black A, Freedman ND, Huang WY, Anema JG, Kahnoski RJ, Lane BR, Noyes SL, Petillo D, Teh BT, Peters U, White E, Anderson GL, Johnson L, Luo J, Chow WH, Moore LE, Choueiri TK, Wood C, Johansson M, McKay JD, Brown KM, Rothman N, Lathrop MG, Deleuze JF, Wu X, Brennan P, Chanock SJ, Purdue MP, Scelo G.

Eur J Hum Genet. 2019 Oct;27(10):1589-1598. doi: 10.1038/s41431-019-0455-9. Epub 2019 Jun 23.

PMID:
31231134
13.

Mitochondrial ncRNA targeting induces cell cycle arrest and tumor growth inhibition of MDA-MB-231 breast cancer cells through reduction of key cell cycle progression factors.

Fitzpatrick C, Bendek MF, Briones M, Farfán N, Silva VA, Nardocci G, Montecino M, Boland A, Deleuze JF, Villegas J, Villota C, Silva V, Lobos-Gonzalez L, Borgna V, Barrey E, Burzio LO, Burzio VA.

Cell Death Dis. 2019 May 29;10(6):423. doi: 10.1038/s41419-019-1649-3.

14.

Muscular dystrophy with arrhythmia caused by loss-of-function mutations in BVES.

De Ridder W, Nelson I, Asselbergh B, De Paepe B, Beuvin M, Ben Yaou R, Masson C, Boland A, Deleuze JF, Maisonobe T, Eymard B, Symoens S, Schindler R, Brand T, Johnson K, Töpf A, Straub V, De Jonghe P, De Bleecker JL, Bonne G, Baets J.

Neurol Genet. 2019 Apr 1;5(2):e321. doi: 10.1212/NXG.0000000000000321. eCollection 2019 Apr.

15.

Vocally disruptive behavior: A case report and literature review.

McCarthy B, Boland A, Murphy S, Cooney C.

Ir J Psychol Med. 2019 May 17:1-6. doi: 10.1017/ipm.2019.18. [Epub ahead of print]

PMID:
31099329
16.

Biallelic MYORG mutation carriers exhibit primary brain calcification with a distinct phenotype.

Grangeon L, Wallon D, Charbonnier C, Quenez O, Richard AC, Rousseau S, Budowski C, Lebouvier T, Corbille AG, Vidailhet M, Méneret A, Roze E, Anheim M, Tranchant C, Favrole P, Antoine JC, Defebvre L, Ayrignac X, Labauge P, Pariente J, Clanet M, Maltête D, Rovelet-Lecrux A, Boland A, Deleuze JF; French PFBC study group , Frebourg T, Hannequin D, Campion D, Nicolas G.

Brain. 2019 Jun 1;142(6):1573-1586. doi: 10.1093/brain/awz095.

PMID:
31009047
17.

Effectiveness of universal programmes for the prevention of suicidal ideation, behaviour and mental ill health in medical students: a systematic review and meta-analysis.

Witt K, Boland A, Lamblin M, McGorry PD, Veness B, Cipriani A, Hawton K, Harvey S, Christensen H, Robinson J.

Evid Based Ment Health. 2019 May;22(2):84-90. doi: 10.1136/ebmental-2019-300082. Epub 2019 Mar 27. Review.

PMID:
30918000
18.

Copy Number Variants in miR-138 as a Potential Risk Factor for Early-Onset Alzheimer's Disease.

Boscher E, Husson T, Quenez O, Laquerrière A, Marguet F, Cassinari K, Wallon D, Martinaud O, Charbonnier C, Nicolas G, Deleuze JF, Boland A, Lathrop M, Frébourg T; FREX Consortium, Campion D, Hébert SS, Rovelet-Lecrux A.

J Alzheimers Dis. 2019;68(3):1243-1255. doi: 10.3233/JAD-180940.

PMID:
30909216
19.

A novel nonsense variant in SUPT20H gene associated with Rheumatoid Arthritis identified by Whole Exome Sequencing of multiplex families.

Veyssiere M, Perea J, Michou L, Boland A, Caloustian C, Olaso R, Deleuze JF, Cornelis F, Petit-Teixeira E, Chaudru V.

PLoS One. 2019 Mar 7;14(3):e0213387. doi: 10.1371/journal.pone.0213387. eCollection 2019.

20.

Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F-mediated inherited retinal disorders.

Zeitz C, Michiels C, Neuillé M, Friedburg C, Condroyer C, Boyard F, Antonio A, Bouzidi N, Milicevic D, Veaux R, Tourville A, Zoumba A, Seneina I, Foussard M, Andrieu C, N Preising M, Blanchard S, Saraiva JP, Mesrob L, Le Floch E, Jubin C, Meyer V, Blanché H, Boland A, Deleuze JF, Sharon D, Drumare I, Defoort-Dhellemmes S, De Baere E, Leroy BP, Zanlonghi X, Casteels I, de Ravel TJ, Balikova I, Koenekoop RK, Laffargue F, McLean R, Gottlob I, Bonneau D, Schorderet DF, L Munier F, McKibbin M, Prescott K, Pelletier V, Dollfus H, Perdomo-Trujillo Y, Faure C, Reiff C, Wissinger B, Meunier I, Kohl S, Banin E, Zrenner E, Jurklies B, Lorenz B, Sahel JA, Audo I.

Hum Mutat. 2019 Jun;40(6):765-787. doi: 10.1002/humu.23735. Epub 2019 Mar 28.

PMID:
30825406

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