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Items: 1 to 50 of 478

1.

[Anatomical and functional results of macular hole surgery using a temporal inverted internal limiting membrane flap. Experience with 24 cases].

Jeancolas AL, Foveau P, Leroy B, Berrod JP, Conart JB.

J Fr Ophtalmol. 2018 Dec;41(10):939-944. doi: 10.1016/j.jfo.2018.02.019. Epub 2018 Nov 12. French.

PMID:
30442489
2.

Abetalipoproteinemia From Previously Unreported Gene Mutations.

Aers XP, Leroy BP, Defesche JC, Shadid S.

Ann Intern Med. 2018 Nov 6. doi: 10.7326/L18-0358. [Epub ahead of print] No abstract available.

PMID:
30398540
3.

Loss of function mutations in KIF14 cause severe microcephaly and kidney development defects in humans and zebrafish.

Reilly ML, Stokman MF, Magry V, Jeanpierre C, Alves M, Paydar M, Hellinga J, Delous M, Pouly D, Failler M, Martinovic J, Loeuillet L, Leroy B, Tantau J, Roume J, Evans CG, Shan X, Filges I, Allingham JS, Kwok BH, Saunier S, Giles RH, Benmerah A.

Hum Mol Genet. 2018 Nov 1. doi: 10.1093/hmg/ddy381. [Epub ahead of print]

PMID:
30388224
4.

Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease.

Van de Sompele S, Smith C, Karali M, Corton M, Van Schil K, Peelman F, Cherry T, Rosseel T, Verdin H, Derolez J, Van Laethem T, Khan KN, McKibbin M, Toomes C, Ali M, Torella A, Testa F, Jimenez B, Simonelli F, De Zaeytijd J, Van den Ende J, Leroy BP, Coppieters F, Ayuso C, Inglehearn CF, Banfi S, De Baere E.

Genet Med. 2018 Oct 31. doi: 10.1038/s41436-018-0345-5. [Epub ahead of print]

PMID:
30377383
5.

Correction: Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations.

Van Schil K, Naessens S, Van de Sompele S, Carron M, Aslanidis A, Van Cauwenbergh C, Mayer AK, Van Heetvelde M, Bauwens M, Verdin H, Coppieters F, Greenberg ME, Yang MG, Karlstetter M, Langmann T, De Preter K, Kohl S, Cherry TJ, Leroy BP; CNV Study Group, De Baere E.

Genet Med. 2018 Oct 8. doi: 10.1038/s41436-018-0305-0. [Epub ahead of print]

PMID:
30297699
6.

The Natural History of Inherited Retinal Dystrophy due to Biallelic Mutations in the RPE65 Gene.

Chung DC, Bertelsen M, Lorenz B, Pennesi ME, Leroy BP, Hamel CP, Pierce E, Sallum J, Larsen M, Stieger K, Preising M, Weleber R, Yang P, Place E, Liu E, Schaefer G, DiStefano-Pappas J, Elci OU, McCague S, Wellman JA, High KA, Reape KZ.

Am J Ophthalmol. 2018 Sep 27. pii: S0002-9394(18)30552-X. doi: 10.1016/j.ajo.2018.09.024. [Epub ahead of print]

PMID:
30268864
7.

Clinical Characterization of 66 Patients With Congenital Retinal Disease Due to the Deep-Intronic c.2991+1655A>G Mutation in CEP290.

Valkenburg D, van Cauwenbergh C, Lorenz B, van Genderen MM, Bertelsen M, Pott JR, Coppieters F, de Zaeytijd J, Thiadens AAHJ, Klaver CCW, Kroes HY, van Schooneveld MJ, Preising M, Hoyng CB, Leroy BP, van den Born LI, Collin RWJ.

Invest Ophthalmol Vis Sci. 2018 Sep 4;59(11):4384-4391. doi: 10.1167/iovs.18-24817.

PMID:
30193310
8.

Reply.

Foveau P, Leroy B, Berrod JP, Conart JB.

Am J Ophthalmol. 2018 Nov;195:244-245. doi: 10.1016/j.ajo.2018.07.039. Epub 2018 Sep 1. No abstract available.

PMID:
30177217
9.

A post-hoc pooled analysis to evaluate the risk of hypoglycaemia with insulin glargine 300 U/mL (Gla-300) versus 100 U/mL (Gla-100) over wider nocturnal windows in individuals with type 2 diabetes on a basal-only insulin regimen.

Bolli GB, Wysham C, Fisher M, Chevalier S, Cali AMG, Leroy B, Riddle MC.

Diabetes Obes Metab. 2018 Aug 29. doi: 10.1111/dom.13515. [Epub ahead of print]

PMID:
30160030
10.

The Spectrum of Structural and Functional Abnormalities in Female Carriers of Pathogenic Variants in the RPGR Gene.

Talib M, van Schooneveld MJ, Van Cauwenbergh C, Wijnholds J, Ten Brink JB, Florijn RJ, Schalij-Delfos NE, Dagnelie G, van Genderen MM, De Baere E, Meester-Smoor MA, De Zaeytijd J, Cremers FPM, van den Born LI, Thiadens AA, Hoyng CB, Klaver CC, Leroy BP, Bergen AA, Boon CJF.

Invest Ophthalmol Vis Sci. 2018 Aug 1;59(10):4123-4133. doi: 10.1167/iovs.17-23453.

PMID:
30105367
11.

Topologically Protected Helical States in Minimally Twisted Bilayer Graphene.

Huang S, Kim K, Efimkin DK, Lovorn T, Taniguchi T, Watanabe K, MacDonald AH, Tutuc E, LeRoy BJ.

Phys Rev Lett. 2018 Jul 20;121(3):037702. doi: 10.1103/PhysRevLett.121.037702.

PMID:
30085814
12.

Embedding photosynthetic biorefineries with circular economies: Exploring the waste recycling potential of Arthrospira sp. to produce high quality by-products.

Sachdeva N, Mascolo C, Wattiez R, Leroy B.

Bioresour Technol. 2018 Nov;268:237-246. doi: 10.1016/j.biortech.2018.07.101. Epub 2018 Jul 21.

PMID:
30081283
13.

Mutations in the gene PDE6C encoding the catalytic subunit of the cone photoreceptor phosphodiesterase in patients with achromatopsia.

Weisschuh N, Stingl K, Audo I, Biskup S, Bocquet B, Branham K, Burstedt MS, De Baere E, De Vries MJ, Golovleva I, Green A, Heckenlively J, Leroy BP, Meunier I, Traboulsi E, Wissinger B, Kohl S.

Hum Mutat. 2018 Oct;39(10):1366-1371. doi: 10.1002/humu.23606. Epub 2018 Aug 22.

PMID:
30080950
14.

Assessment of transient effects of alternative nitrogen sources in continuous cultures of Arthrospira sp. using proteomic, modeling and biochemical tools.

Sachdeva N, Giambarresi G, Poughon L, Cabrera JC, Leroy B, Lasseur C, Dussap CG, Wattiez R.

Bioresour Technol. 2018 Nov;267:492-501. doi: 10.1016/j.biortech.2018.07.062. Epub 2018 Jul 21.

PMID:
30041143
15.

Pragmatic Tools for Sharing Genomic Research Results with the Relatives of Living and Deceased Research Participants.

Wolf SM, Scholtes E, Koenig BA, Petersen GM, Berry SA, Beskow LM, Daly MB, Fernandez CV, Green RC, LeRoy BS, Lindor NM, O'Rourke PP, Breitkopf CR, Rothstein MA, Van Ness B, Wilfond BS.

J Law Med Ethics. 2018 Mar;46(1):87-109. doi: 10.1177/1073110518766024. Epub 2018 Mar 27. No abstract available.

PMID:
30008546
16.

Catabolism of the groundwater micropollutant 2,6-dichlorobenzamide beyond 2,6-dichlorobenzoate is plasmid encoded in Aminobacter sp. MSH1.

T'Syen J, Raes B, Horemans B, Tassoni R, Leroy B, Lood C, van Noort V, Lavigne R, Wattiez R, Kohler HE, Springael D.

Appl Microbiol Biotechnol. 2018 Sep;102(18):7963-7979. doi: 10.1007/s00253-018-9189-9. Epub 2018 Jul 8.

PMID:
29984394
17.

Response to Costa, Lemos, and Paneque Letter to the Editor.

Veach PM, Leroy BS.

J Genet Couns. 2018 Aug;27(4):1008. doi: 10.1007/s10897-018-0277-x. Epub 2018 Jul 1. No abstract available.

PMID:
29961158
18.

Insights from modeling studies on how climate change affects invasive alien species geography.

Bellard C, Jeschke JM, Leroy B, Mace GM.

Ecol Evol. 2018 May 4;8(11):5688-5700. doi: 10.1002/ece3.4098. eCollection 2018 Jun.

19.

Fetal diagnosis of right cardiac ventricular aneurysms: A report of three cases.

Athiel Y, Barrois M, Bault JP, Cohen L, Leroy B, Quibel T.

J Gynecol Obstet Hum Reprod. 2018 Nov;47(9):481-485. doi: 10.1016/j.jogoh.2018.06.004. Epub 2018 Jun 20.

PMID:
29932991
20.

CUGC for congenital primary aphakia.

Sarkar H, Moore W, Leroy BP, Moosajee M.

Eur J Hum Genet. 2018 Aug;26(8):1234-1237. doi: 10.1038/s41431-018-0171-x. Epub 2018 May 16. No abstract available.

PMID:
29769628
21.

Pathogenic variants in the ABCC6 gene are associated with an increased risk for ischemic stroke.

De Vilder EYG, Cardoen S, Hosen MJ, Le Saux O, De Zaeytijd J, Leroy BP, De Reuck J, Coucke PJ, De Paepe A, Hemelsoet D, Vanakker OM.

Brain Pathol. 2018 Nov;28(6):822-831. doi: 10.1111/bpa.12620.

PMID:
29722917
22.

Seshat: A Web service for accurate annotation, validation, and analysis of TP53 variants generated by conventional and next-generation sequencing.

Tikkanen T, Leroy B, Fournier JL, Risques RA, Malcikova J, Soussi T.

Hum Mutat. 2018 Jul;39(7):925-933. doi: 10.1002/humu.23543. Epub 2018 May 17.

PMID:
29696732
23.

Internal Limiting Membrane Peeling in Macula-off Retinal Detachment Complicated by Grade B Proliferative Vitreoretinopathy.

Foveau P, Leroy B, Berrod JP, Conart JB.

Am J Ophthalmol. 2018 Jul;191:1-6. doi: 10.1016/j.ajo.2018.03.037. Epub 2018 Apr 3.

PMID:
29621507
24.

Managing Couple Conflict During Prenatal Counseling Sessions: An Investigation of Genetic Counselor Experiences and Perceptions.

Schoeffel K, McCarthy Veach P, Rubin K, LeRoy B.

J Genet Couns. 2018 Sep;27(5):1275-1290. doi: 10.1007/s10897-018-0252-6. Epub 2018 Mar 22.

PMID:
29569052
25.

From the Cover: Inhibitors of Nicotinamide Phosphoribosyltransferase Cause Retinal Damage in Larval Zebrafish.

Cassar S, Dunn C, Olson A, Buck W, Fossey S, Ramos MF, Sancheti P, Stolarik D, Britton H, Cole T, Bratcher N, Huang X, Peterson R, Longenecker K, LeRoy B.

Toxicol Sci. 2018 Feb 1;161(2):300-309. doi: 10.1093/toxsci/kfx212.

PMID:
29378070
26.

The Journal of Genetic Counseling: Continuing to Add Value to the Profession.

LeRoy BS, McCarthy Veach P.

J Genet Couns. 2018 Feb;27(1):312. doi: 10.1007/s10897-017-0202-8. No abstract available.

PMID:
29288411
27.

Genetic Plasticity and Ethylmalonyl Coenzyme A Pathway during Acetate Assimilation in Rhodospirillum rubrum S1H under Photoheterotrophic Conditions.

De Meur Q, Deutschbauer A, Koch M, Wattiez R, Leroy B.

Appl Environ Microbiol. 2018 Jan 17;84(3). pii: e02038-17. doi: 10.1128/AEM.02038-17. Print 2018 Feb 1.

28.

A global picture of biological invasion threat on islands.

Bellard C, Rysman JF, Leroy B, Claud C, Mace GM.

Nat Ecol Evol. 2017 Dec;1(12):1862-1869. doi: 10.1038/s41559-017-0365-6. Epub 2017 Nov 6.

PMID:
29109470
29.

A regenerative erythropoietic response does not increase the frequency of Pig-a mutant reticulocytes and erythrocytes in Sprague-Dawley rats.

Nicolette J, Murray J, Sonders P, Leroy B.

Environ Mol Mutagen. 2018 Jan;59(1):91-95. doi: 10.1002/em.22145. Epub 2017 Oct 27.

PMID:
29076186
30.

Is oral moxifloxacin associated with bilateral acute iris transillumination?

Kreps EO, Hondeghem K, Augustinus A, Sys C, Van de Veire S, Leroy BP, Schauwvlieghe PP.

Acta Ophthalmol. 2018 Jun;96(4):e547-e548. doi: 10.1111/aos.13558. Epub 2017 Oct 25. No abstract available.

PMID:
29068528
31.

The importance of genetic testing as demonstrated by two cases of CACNA1F-associated retinal generation misdiagnosed as LCA.

Men CJ, Bujakowska KM, Comander J, Place E, Bedoukian EC, Zhu X, Leroy BP, Fulton AB, Pierce EA.

Mol Vis. 2017 Oct 10;23:695-706. eCollection 2017.

32.

Projecting the Supply and Demand for Certified Genetic Counselors: a Workforce Study.

Hoskovec JM, Bennett RL, Carey ME, DaVanzo JE, Dougherty M, Hahn SE, LeRoy BS, O'Neal S, Richardson JG, Wicklund CA.

J Genet Couns. 2018 Feb;27(1):16-20. doi: 10.1007/s10897-017-0158-8. Epub 2017 Oct 20.

PMID:
29052810
33.

Aquatic urban ecology at the scale of a capital: community structure and interactions in street gutters.

Hervé V, Leroy B, Da Silva Pires A, Lopez PJ.

ISME J. 2018 Jan;12(1):253-266. doi: 10.1038/ismej.2017.166. Epub 2017 Oct 13.

34.

Unilateral cancer-associated retinopathy: diagnosis, serology and treatment.

Roels D, Ueno S, Talianu CD, Draganova D, Kondo M, Leroy BP.

Doc Ophthalmol. 2017 Dec;135(3):233-240. doi: 10.1007/s10633-017-9605-y. Epub 2017 Aug 16.

PMID:
28815346
35.

Proteomic and Functional Analyses of the Virion Transmembrane Proteome of Cyprinid Herpesvirus 3.

Vancsok C, Peñaranda MMD, Raj VS, Leroy B, Jazowiecka-Rakus J, Boutier M, Gao Y, Wilkie GS, Suárez NM, Wattiez R, Gillet L, Davison AJ, Vanderplasschen AFC.

J Virol. 2017 Oct 13;91(21). pii: e01209-17. doi: 10.1128/JVI.01209-17. Print 2017 Nov 1.

36.

Evolution of the electronic band structure of twisted bilayer graphene upon doping.

Huang S, Yankowitz M, Chattrakun K, Sandhu A, LeRoy BJ.

Sci Rep. 2017 Aug 8;7(1):7611. doi: 10.1038/s41598-017-07580-3.

37.

Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations.

Van Schil K, Naessens S, Van de Sompele S, Carron M, Aslanidis A, Van Cauwenbergh C, Kathrin Mayer A, Van Heetvelde M, Bauwens M, Verdin H, Coppieters F, Greenberg ME, Yang MG, Karlstetter M, Langmann T, De Preter K, Kohl S, Cherry TJ, Leroy BP; CNV Study Group, De Baere E.

Genet Med. 2018 Feb;20(2):202-213. doi: 10.1038/gim.2017.97. Epub 2017 Jul 27. Erratum in: Genet Med. 2018 Oct 8;:.

38.

Measuring drug absorption improves interpretation of behavioral responses in a larval zebrafish locomotor assay for predicting seizure liability.

Cassar S, Breidenbach L, Olson A, Huang X, Britton H, Woody C, Sancheti P, Stolarik D, Wicke K, Hempel K, LeRoy B.

J Pharmacol Toxicol Methods. 2017 Nov;88(Pt 1):56-63. doi: 10.1016/j.vascn.2017.07.002. Epub 2017 Jul 13.

PMID:
28712933
39.

Efficacy and safety of voretigene neparvovec (AAV2-hRPE65v2) in patients with RPE65-mediated inherited retinal dystrophy: a randomised, controlled, open-label, phase 3 trial.

Russell S, Bennett J, Wellman JA, Chung DC, Yu ZF, Tillman A, Wittes J, Pappas J, Elci O, McCague S, Cross D, Marshall KA, Walshire J, Kehoe TL, Reichert H, Davis M, Raffini L, George LA, Hudson FP, Dingfield L, Zhu X, Haller JA, Sohn EH, Mahajan VB, Pfeifer W, Weckmann M, Johnson C, Gewaily D, Drack A, Stone E, Wachtel K, Simonelli F, Leroy BP, Wright JF, High KA, Maguire AM.

Lancet. 2017 Aug 26;390(10097):849-860. doi: 10.1016/S0140-6736(17)31868-8. Epub 2017 Jul 14. Erratum in: Lancet. 2017 Aug 26;390(10097):848.

40.

Analysis of KERA in four families with cornea plana identifies two novel mutations.

Dudakova L, Vercruyssen JHJ, Balikova I, Postolache L, Leroy BP, Skalicka P, Liskova P.

Acta Ophthalmol. 2018 Feb;96(1):e87-e91. doi: 10.1111/aos.13484. Epub 2017 Jul 5.

PMID:
28677912
41.

Revisiting the vulnerability of juvenile bigeye (Thunnus obesus) and yellowfin (T. albacares) tuna caught by purse-seine fisheries while associating with surface waters and floating objects.

Scutt Phillips J, Pilling GM, Leroy B, Evans K, Usu T, Lam CH, Schaefer KM, Nicol S.

PLoS One. 2017 Jun 29;12(6):e0179045. doi: 10.1371/journal.pone.0179045. eCollection 2017.

42.

Elaboration of the Reciprocal-Engagement Model of Genetic Counseling Practice: a Qualitative Investigation of Goals and Strategies.

Redlinger-Grosse K, Veach PM, LeRoy BS, Zierhut H.

J Genet Couns. 2017 Dec;26(6):1372-1387. doi: 10.1007/s10897-017-0114-7. Epub 2017 Jun 22.

PMID:
28643080
43.

Clinico-molecular analysis of eleven patients with Hermansky-Pudlak type 5 syndrome, a mild form of HPS.

Michaud V, Lasseaux E, Plaisant C, Verloes A, Perdomo-Trujillo Y, Hamel C, Elcioglu NH, Leroy B, Kaplan J, Jouk PS, Lacombe D, Fergelot P, Morice-Picard F, Arveiler B.

Pigment Cell Melanoma Res. 2017 Jan;30(6):563-570. doi: 10.1111/pcmr.12608. Epub 2017 Oct 20.

PMID:
28640947
44.

Early-onset primary antibody deficiency resembling common variable immunodeficiency challenges the diagnosis of Wiedeman-Steiner and Roifman syndromes.

Bogaert DJ, Dullaers M, Kuehn HS, Leroy BP, Niemela JE, De Wilde H, De Schryver S, De Bruyne M, Coppieters F, Lambrecht BN, De Baets F, Rosenzweig SD, De Baere E, Haerynck F.

Sci Rep. 2017 Jun 16;7(1):3702. doi: 10.1038/s41598-017-02434-4.

45.

"If It Helps, It's Worth a Try": an Investigation of Perceptions and Attitudes about Genetic Counseling among Southern Manitoba Hutterites.

Gemmell AP, Veach PM, MacFarlane I, Riesgraf R, LeRoy BS.

J Genet Couns. 2017 Dec;26(6):1357-1371. doi: 10.1007/s10897-017-0121-8. Epub 2017 Jun 14.

PMID:
28616832
46.

Impact of different nitrogen sources on the growth of Arthrospira sp. PCC 8005 under batch and continuous cultivation - A biochemical, transcriptomic and proteomic profile.

Deschoenmaeker F, Bayon-Vicente G, Sachdeva N, Depraetere O, Cabrera Pino JC, Leroy B, Muylaert K, Wattiez R.

Bioresour Technol. 2017 Aug;237:78-88. doi: 10.1016/j.biortech.2017.03.145. Epub 2017 Mar 27.

PMID:
28400171
47.

[Prescription of acetaminophen in five French hospitals: What are the practices?]

Pace JB, Nave V, Moulis M, Bourdelin M, Coursier S, Jean-Bart É, Leroy B, Bonnefous JL, Bontemps H, Coutet J, Eyssette C, Pont E.

Therapie. 2017 Oct;72(5):579-586. doi: 10.1016/j.therap.2017.01.007. Epub 2017 Feb 22. French.

PMID:
28336157
48.

Tunable moiré bands and strong correlations in small-twist-angle bilayer graphene.

Kim K, DaSilva A, Huang S, Fallahazad B, Larentis S, Taniguchi T, Watanabe K, LeRoy BJ, MacDonald AH, Tutuc E.

Proc Natl Acad Sci U S A. 2017 Mar 28;114(13):3364-3369. doi: 10.1073/pnas.1620140114. Epub 2017 Mar 14.

49.

Recommended Guidelines for Validation, Quality Control, and Reporting of TP53 Variants in Clinical Practice.

Leroy B, Ballinger ML, Baran-Marszak F, Bond GL, Braithwaite A, Concin N, Donehower LA, El-Deiry WS, Fenaux P, Gaidano G, Langerød A, Hellstrom-Lindberg E, Iggo R, Lehmann-Che J, Mai PL, Malkin D, Moll UM, Myers JN, Nichols KE, Pospisilova S, Ashton-Prolla P, Rossi D, Savage SA, Strong LC, Tonin PN, Zeillinger R, Zenz T, Fraumeni JF Jr, Taschner PE, Hainaut P, Soussi T.

Cancer Res. 2017 Mar 15;77(6):1250-1260. doi: 10.1158/0008-5472.CAN-16-2179. Review.

50.

Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian Families.

Van Cauwenbergh C, Coppieters F, Roels D, De Jaegere S, Flipts H, De Zaeytijd J, Walraedt S, Claes C, Fransen E, Van Camp G, Depasse F, Casteels I, de Ravel T, Leroy BP, De Baere E.

PLoS One. 2017 Jan 11;12(1):e0170038. doi: 10.1371/journal.pone.0170038. eCollection 2017.

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