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Items: 1 to 50 of 87

1.

Odysight: A Mobile Medical Application Designed for Remote Monitoring-A Prospective Study Comparison with Standard Clinical Eye Tests.

Brucker J, Bhatia V, Sahel JA, Girmens JF, Mohand-Saïd S.

Ophthalmol Ther. 2019 Sep;8(3):461-476. doi: 10.1007/s40123-019-0203-9. Epub 2019 Jul 25.

PMID:
31346977
2.

Full-field electroretinography, visual acuity and visual fields in Usher syndrome: a multicentre European study.

Stingl K, Kurtenbach A, Hahn G, Kernstock C, Hipp S, Zobor D, Kohl S, Bonnet C, Mohand-Saïd S, Audo I, Fakin A, Hawlina M, Testa F, Simonelli F, Petit C, Sahel JA, Zrenner E.

Doc Ophthalmol. 2019 Jul 2. doi: 10.1007/s10633-019-09704-8. [Epub ahead of print]

PMID:
31267413
3.

Family Members' Experiences with Observing Pain Behaviors Using the Critical-Care Pain Observation Tool.

Mohand-Saïd S, Lalonde MR, Boitor M, Gélinas C.

Pain Manag Nurs. 2019 May 17. pii: S1524-9042(18)30233-9. doi: 10.1016/j.pmn.2018.11.001. [Epub ahead of print]

PMID:
31109880
4.

Adapted Surgical Procedure for Argus II Retinal Implantation: Feasibility, Safety, Efficiency, and Postoperative Anatomic Findings.

Delyfer MN, Gaucher D, Govare M, Cougnard-Grégoire A, Korobelnik JF, Ajana S, Mohand-Saïd S, Ayello-Scheer S, Rezaiguia-Studer F, Dollfus H, Sahel JA, Barale PO.

Ophthalmol Retina. 2018 Apr;2(4):276-287. doi: 10.1016/j.oret.2017.08.010. Epub 2017 Oct 26.

PMID:
31047236
5.

Longitudinal Clinical Follow-up and Genetic Spectrum of Patients With Rod-Cone Dystrophy Associated With Mutations in PDE6A and PDE6B.

Khateb S, Nassisi M, Bujakowska KM, Méjécase C, Condroyer C, Antonio A, Foussard M, Démontant V, Mohand-Saïd S, Sahel JA, Zeitz C, Audo I.

JAMA Ophthalmol. 2019 Jun 1;137(6):669-679. doi: 10.1001/jamaophthalmol.2018.6367.

PMID:
30998820
6.

The development of white matter structural changes during the process of deterioration of the visual field.

Hofstetter S, Sabbah N, Mohand-Saïd S, Sahel JA, Habas C, Safran AB, Amedi A.

Sci Rep. 2019 Feb 14;9(1):2085. doi: 10.1038/s41598-018-38430-5.

7.

Whole exome sequencing resolves complex phenotype and identifies CC2D2A mutations underlying non-syndromic rod-cone dystrophy.

Méjécase C, Hummel A, Mohand-Saïd S, Andrieu C, El Shamieh S, Antonio A, Condroyer C, Boyard F, Foussard M, Blanchard S, Letexier M, Saraiva JP, Sahel JA, Zeitz C, Audo I.

Clin Genet. 2019 Feb;95(2):329-333. doi: 10.1111/cge.13453. Epub 2018 Nov 4.

PMID:
30267408
8.

Expanding the Mutation Spectrum in ABCA4: Sixty Novel Disease Causing Variants and Their Associated Phenotype in a Large French Stargardt Cohort.

Nassisi M, Mohand-Saïd S, Dhaenens CM, Boyard F, Démontant V, Andrieu C, Antonio A, Condroyer C, Foussard M, Méjécase C, Eandi CM, Sahel JA, Zeitz C, Audo I.

Int J Mol Sci. 2018 Jul 27;19(8). pii: E2196. doi: 10.3390/ijms19082196.

9.

Usher Syndrome and Color Vision.

Kurtenbach A, Hahn G, Kernstock C, Hipp S, Zobor D, Stingl K, Kohl S, Bonnet C, Mohand-Saïd S, Sliesoraityte I, Sahel JA, Audo I, Fakin A, Hawlina M, Testa F, Simonelli F, Petit C, Zrenner E.

Curr Eye Res. 2018 Oct;43(10):1295-1301. doi: 10.1080/02713683.2018.1501804. Epub 2018 Jul 30.

PMID:
30012035
10.

Detailed genetic characteristics of an international large cohort of patients with Stargardt disease: ProgStar study report 8.

Fujinami K, Strauss RW, Chiang JP, Audo IS, Bernstein PS, Birch DG, Bomotti SM, Cideciyan AV, Ervin AM, Marino MJ, Sahel JA, Mohand-Said S, Sunness JS, Traboulsi EI, West S, Wojciechowski R, Zrenner E, Michaelides M, Scholl HPN; ProgStar Study Group; On behalf of the ProgStar Study Group.

Br J Ophthalmol. 2019 Mar;103(3):390-397. doi: 10.1136/bjophthalmol-2018-312064. Epub 2018 Jun 20.

11.

Phenotypic Characteristics of a French Cohort of Patients with X-Linked Retinoschisis.

Orès R, Mohand-Said S, Dhaenens CM, Antonio A, Zeitz C, Augstburger E, Andrieu C, Sahel JA, Audo I.

Ophthalmology. 2018 Oct;125(10):1587-1596. doi: 10.1016/j.ophtha.2018.03.057. Epub 2018 May 5.

PMID:
29739629
12.

MERTK mutation update in inherited retinal diseases.

Audo I, Mohand-Said S, Boulanger-Scemama E, Zanlonghi X, Condroyer C, Démontant V, Boyard F, Antonio A, Méjécase C, El Shamieh S, Sahel JA, Zeitz C.

Hum Mutat. 2018 Jul;39(7):887-913. doi: 10.1002/humu.23431. Epub 2018 May 23. Review.

13.

Multimodal imaging including semiquantitative short-wavelength and near-infrared autofluorescence in achromatopsia.

Matet A, Kohl S, Baumann B, Antonio A, Mohand-Said S, Sahel JA, Audo I.

Sci Rep. 2018 Apr 4;8(1):5665. doi: 10.1038/s41598-018-23919-w.

14.

AUTOSOMAL DOMINANT VITREORETINOCHOROIDOPATHY: When Molecular Genetic Testing Helps Clinical Diagnosis.

Boulanger-Scemama E, Sahel JA, Mohand-Said S, Antonio A, Condroyer C, Zeitz C, Audo I.

Retina. 2019 May;39(5):867-878. doi: 10.1097/IAE.0000000000002041.

PMID:
29370033
15.

A novel nonsense variant in REEP6 is involved in a sporadic rod-cone dystrophy case.

Méjécase C, Mohand-Saïd S, El Shamieh S, Antonio A, Condroyer C, Blanchard S, Letexier M, Saraiva JP, Sahel JA, Audo I, Zeitz C.

Clin Genet. 2018 Mar;93(3):707-711. doi: 10.1111/cge.13171.

PMID:
29120066
16.

Multimodal imaging and functional correlations identify unusual cases of macular retinal pigment epithelium hypopigmentation occurring without functional loss.

Boulanger-Scemama E, Akesbi J, Tick S, Mohand-Said S, Sahel JA, Audo I.

Doc Ophthalmol. 2017 Aug;135(1):77-83. doi: 10.1007/s10633-017-9592-z. Epub 2017 Jun 7.

PMID:
28593392
17.

Incidence of Atrophic Lesions in Stargardt Disease in the Progression of Atrophy Secondary to Stargardt Disease (ProgStar) Study: Report No. 5.

Strauss RW, Muñoz B, Ho A, Jha A, Michaelides M, Mohand-Said S, Cideciyan AV, Birch D, Hariri AH, Nittala MG, Sadda S, Scholl HPN; ProgStar Study Group.

JAMA Ophthalmol. 2017 Jul 1;135(7):687-695. doi: 10.1001/jamaophthalmol.2017.1121.

18.

Impact of Retinitis Pigmentosa on Quality of Life, Mental Health, and Employment Among Young Adults.

Chaumet-Riffaud AE, Chaumet-Riffaud P, Cariou A, Devisme C, Audo I, Sahel JA, Mohand-Said S.

Am J Ophthalmol. 2017 May;177:169-174. doi: 10.1016/j.ajo.2017.02.016. Epub 2017 Feb 22.

PMID:
28237413
19.

Reorganization of early visual cortex functional connectivity following selective peripheral and central visual loss.

Sabbah N, Sanda N, Authié CN, Mohand-Saïd S, Sahel JA, Habas C, Amedi A, Safran AB.

Sci Rep. 2017 Feb 24;7:43223. doi: 10.1038/srep43223.

20.

Identification of a Novel Homozygous Nonsense Mutation Confirms the Implication of GNAT1 in Rod-Cone Dystrophy.

Méjécase C, Laurent-Coriat C, Mayer C, Poch O, Mohand-Saïd S, Prévot C, Antonio A, Boyard F, Condroyer C, Michiels C, Blanchard S, Letexier M, Saraiva JP, Sahel JA, Audo I, Zeitz C.

PLoS One. 2016 Dec 15;11(12):e0168271. doi: 10.1371/journal.pone.0168271. eCollection 2016.

21.

ARL2BP mutations account for 0.1% of autosomal recessive rod-cone dystrophies with the report of a novel splice variant.

Audo I, El Shamieh S, Méjécase C, Michiels C, Demontant V, Antonio A, Condroyer C, Boyard F, Letexier M, Saraiva JP, Blanchard S, Mohand-Saïd S, Sahel JA, Zeitz C.

Clin Genet. 2017 Jul;92(1):109-111. doi: 10.1111/cge.12909. Epub 2017 Feb 6.

PMID:
27790702
22.

Test-Retest Variability of Functional and Structural Parameters in Patients with Stargardt Disease Participating in the SAR422459 Gene Therapy Trial.

Parker MA, Choi D, Erker LR, Pennesi ME, Yang P, Chegarnov EN, Steinkamp PN, Schlechter CL, Dhaenens CM, Mohand-Said S, Audo I, Sahel J, Weleber RG, Wilson DJ.

Transl Vis Sci Technol. 2016 Oct 1;5(5):10. eCollection 2016 Oct.

23.

Argus II retinal prosthesis implantation with scleral flap and autogenous temporalis fascia as alternative patch graft material: a 4-year follow-up.

Matet A, Amar N, Mohand-Said S, Sahel JA, Barale PO.

Clin Ophthalmol. 2016 Aug 18;10:1565-71. doi: 10.2147/OPTH.S112403. eCollection 2016.

24.

An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients.

Bonnet C, Riahi Z, Chantot-Bastaraud S, Smagghe L, Letexier M, Marcaillou C, Lefèvre GM, Hardelin JP, El-Amraoui A, Singh-Estivalet A, Mohand-Saïd S, Kohl S, Kurtenbach A, Sliesoraityte I, Zobor D, Gherbi S, Testa F, Simonelli F, Banfi S, Fakin A, Glavač D, Jarc-Vidmar M, Zupan A, Battelino S, Martorell Sampol L, Claveria MA, Catala Mora J, Dad S, Møller LB, Rodriguez Jorge J, Hawlina M, Auricchio A, Sahel JA, Marlin S, Zrenner E, Audo I, Petit C.

Eur J Hum Genet. 2016 Dec;24(12):1730-1738. doi: 10.1038/ejhg.2016.99. Epub 2016 Jul 27.

25.

Clinical Characteristics and Risk Factors of Extensive Macular Atrophy with Pseudodrusen: The EMAP Case-Control National Clinical Trial.

Douillard A, Picot MC, Delcourt C, Lacroux A, Zanlonghi X, Puech B, Defoort-Dhelemmes S, Drumare I, Jozefowicz E, Bocquet B, Baudoin C, Al-Dain Marzouka N, Perez-Roustit S, Arsène S, Gissot V, Devin F, Arndt C, Wolff B, Mauget-Faÿsse M, Quaranta M, Mura T, Deplanque D, Oubraham H, Cohen SY, Gastaud P, Zambrowsky O, Creuzot-Garcher C, Mohand Saïd S, Blanco Garavito R, Souied E, Sahel JA, Audo I, Hamel C, Meunier I.

Ophthalmology. 2016 Sep;123(9):1865-73. doi: 10.1016/j.ophtha.2016.05.018. Epub 2016 Jun 16.

PMID:
27320518
26.

Increased functional connectivity between language and visually deprived areas in late and partial blindness.

Sabbah N, Authié CN, Sanda N, Mohand-Saïd S, Sahel JA, Safran AB, Habas C, Amedi A.

Neuroimage. 2016 Aug 1;136:162-73. doi: 10.1016/j.neuroimage.2016.04.056. Epub 2016 Apr 30.

PMID:
27143090
27.

A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants.

Fritsche LG, Igl W, Bailey JN, Grassmann F, Sengupta S, Bragg-Gresham JL, Burdon KP, Hebbring SJ, Wen C, Gorski M, Kim IK, Cho D, Zack D, Souied E, Scholl HP, Bala E, Lee KE, Hunter DJ, Sardell RJ, Mitchell P, Merriam JE, Cipriani V, Hoffman JD, Schick T, Lechanteur YT, Guymer RH, Johnson MP, Jiang Y, Stanton CM, Buitendijk GH, Zhan X, Kwong AM, Boleda A, Brooks M, Gieser L, Ratnapriya R, Branham KE, Foerster JR, Heckenlively JR, Othman MI, Vote BJ, Liang HH, Souzeau E, McAllister IL, Isaacs T, Hall J, Lake S, Mackey DA, Constable IJ, Craig JE, Kitchner TE, Yang Z, Su Z, Luo H, Chen D, Ouyang H, Flagg K, Lin D, Mao G, Ferreyra H, Stark K, von Strachwitz CN, Wolf A, Brandl C, Rudolph G, Olden M, Morrison MA, Morgan DJ, Schu M, Ahn J, Silvestri G, Tsironi EE, Park KH, Farrer LA, Orlin A, Brucker A, Li M, Curcio CA, Mohand-Saïd S, Sahel JA, Audo I, Benchaboune M, Cree AJ, Rennie CA, Goverdhan SV, Grunin M, Hagbi-Levi S, Campochiaro P, Katsanis N, Holz FG, Blond F, Blanché H, Deleuze JF, Igo RP Jr, Truitt B, Peachey NS, Meuer SM, Myers CE, Moore EL, Klein R, Hauser MA, Postel EA, Courtenay MD, Schwartz SG, Kovach JL, Scott WK, Liew G, Tan AG, Gopinath B, Merriam JC, Smith RT, Khan JC, Shahid H, Moore AT, McGrath JA, Laux R, Brantley MA Jr, Agarwal A, Ersoy L, Caramoy A, Langmann T, Saksens NT, de Jong EK, Hoyng CB, Cain MS, Richardson AJ, Martin TM, Blangero J, Weeks DE, Dhillon B, van Duijn CM, Doheny KF, Romm J, Klaver CC, Hayward C, Gorin MB, Klein ML, Baird PN, den Hollander AI, Fauser S, Yates JR, Allikmets R, Wang JJ, Schaumberg DA, Klein BE, Hagstrom SA, Chowers I, Lotery AJ, Léveillard T, Zhang K, Brilliant MH, Hewitt AW, Swaroop A, Chew EY, Pericak-Vance MA, DeAngelis M, Stambolian D, Haines JL, Iyengar SK, Weber BH, Abecasis GR, Heid IM.

Nat Genet. 2016 Feb;48(2):134-43. doi: 10.1038/ng.3448. Epub 2015 Dec 21.

28.

Novel grading system for quantification of cystic macular lesions in Usher syndrome.

Sliesoraityte I, Peto T, Mohand-Said S, Sahel JA.

Orphanet J Rare Dis. 2015 Dec 10;10:157. doi: 10.1186/s13023-015-0372-0.

29.

Functional and high-resolution retinal imaging monitoring photoreceptor damage in acute macular neuroretinopathy.

Audo I, Gocho K, Rossant F, Mohand-Saïd S, Loquin K, Bloch I, Sahel JA, Paques M.

Graefes Arch Clin Exp Ophthalmol. 2016 May;254(5):855-64. doi: 10.1007/s00417-015-3136-6. Epub 2015 Sep 7.

PMID:
26344727
30.

Threshold levels of visual field and acuity loss related to significant decreases in the quality of life and emotional states of patients with retinitis pigmentosa.

Azoulay L, Chaumet-Riffaud P, Jaron S, Roux C, Sancho S, Berdugo N, Audo I, Sahel JA, Mohand-Saïd S.

Ophthalmic Res. 2015;54(2):78-84. doi: 10.1159/000435886. Epub 2015 Jul 29.

31.

Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation.

Boulanger-Scemama E, El Shamieh S, Démontant V, Condroyer C, Antonio A, Michiels C, Boyard F, Saraiva JP, Letexier M, Souied E, Mohand-Saïd S, Sahel JA, Zeitz C, Audo I.

Orphanet J Rare Dis. 2015 Jun 24;10:85. doi: 10.1186/s13023-015-0300-3.

32.

Targeted next generation sequencing identifies novel mutations in RP1 as a relatively common cause of autosomal recessive rod-cone dystrophy.

El Shamieh S, Boulanger-Scemama E, Lancelot ME, Antonio A, Démontant V, Condroyer C, Letexier M, Saraiva JP, Mohand-Saïd S, Sahel JA, Audo I, Zeitz C.

Biomed Res Int. 2015;2015:485624. doi: 10.1155/2015/485624. Epub 2015 Jan 6.

33.

Importance of eye position on spatial localization in blind subjects wearing an Argus II retinal prosthesis.

Sabbah N, Authié CN, Sanda N, Mohand-Said S, Sahel JA, Safran AB.

Invest Ophthalmol Vis Sci. 2014 Nov 20;55(12):8259-66. doi: 10.1167/iovs.14-15392.

PMID:
25414187
34.

Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome.

Bujakowska KM, Zhang Q, Siemiatkowska AM, Liu Q, Place E, Falk MJ, Consugar M, Lancelot ME, Antonio A, Lonjou C, Carpentier W, Mohand-Saïd S, den Hollander AI, Cremers FP, Leroy BP, Gai X, Sahel JA, van den Born LI, Collin RW, Zeitz C, Audo I, Pierce EA.

Hum Mol Genet. 2015 Jan 1;24(1):230-42. doi: 10.1093/hmg/ddu441. Epub 2014 Aug 28.

35.

Whole-exome sequencing identifies KIZ as a ciliary gene associated with autosomal-recessive rod-cone dystrophy.

El Shamieh S, Neuillé M, Terray A, Orhan E, Condroyer C, Démontant V, Michiels C, Antonio A, Boyard F, Lancelot ME, Letexier M, Saraiva JP, Léveillard T, Mohand-Saïd S, Goureau O, Sahel JA, Zeitz C, Audo I.

Am J Hum Genet. 2014 Apr 3;94(4):625-33. doi: 10.1016/j.ajhg.2014.03.005. Epub 2014 Mar 27.

36.

The familial dementia gene revisited: a missense mutation revealed by whole-exome sequencing identifies ITM2B as a candidate gene underlying a novel autosomal dominant retinal dystrophy in a large family.

Audo I, Bujakowska K, Orhan E, El Shamieh S, Sennlaub F, Guillonneau X, Antonio A, Michiels C, Lancelot ME, Letexier M, Saraiva JP, Nguyen H, Luu TD, Léveillard T, Poch O, Dollfus H, Paques M, Goureau O, Mohand-Saïd S, Bhattacharya SS, Sahel JA, Zeitz C.

Hum Mol Genet. 2014 Jan 15;23(2):491-501. doi: 10.1093/hmg/ddt439. Epub 2013 Sep 10.

PMID:
24026677
37.

Mutations in IMPG1 cause vitelliform macular dystrophies.

Manes G, Meunier I, Avila-Fernández A, Banfi S, Le Meur G, Zanlonghi X, Corton M, Simonelli F, Brabet P, Labesse G, Audo I, Mohand-Said S, Zeitz C, Sahel JA, Weber M, Dollfus H, Dhaenens CM, Allorge D, De Baere E, Koenekoop RK, Kohl S, Cremers FP, Hollyfield JG, Sénéchal A, Hebrard M, Bocquet B, Ayuso García C, Hamel CP.

Am J Hum Genet. 2013 Sep 5;93(3):571-8. doi: 10.1016/j.ajhg.2013.07.018. Epub 2013 Aug 29.

38.

Functional rescue of cone photoreceptors in retinitis pigmentosa.

Sahel JA, Léveillard T, Picaud S, Dalkara D, Marazova K, Safran A, Paques M, Duebel J, Roska B, Mohand-Said S.

Graefes Arch Clin Exp Ophthalmol. 2013 Jul;251(7):1669-77. doi: 10.1007/s00417-013-2314-7. Review. No abstract available.

PMID:
23575948
39.

Seven new loci associated with age-related macular degeneration.

Fritsche LG, Chen W, Schu M, Yaspan BL, Yu Y, Thorleifsson G, Zack DJ, Arakawa S, Cipriani V, Ripke S, Igo RP Jr, Buitendijk GH, Sim X, Weeks DE, Guymer RH, Merriam JE, Francis PJ, Hannum G, Agarwal A, Armbrecht AM, Audo I, Aung T, Barile GR, Benchaboune M, Bird AC, Bishop PN, Branham KE, Brooks M, Brucker AJ, Cade WH, Cain MS, Campochiaro PA, Chan CC, Cheng CY, Chew EY, Chin KA, Chowers I, Clayton DG, Cojocaru R, Conley YP, Cornes BK, Daly MJ, Dhillon B, Edwards AO, Evangelou E, Fagerness J, Ferreyra HA, Friedman JS, Geirsdottir A, George RJ, Gieger C, Gupta N, Hagstrom SA, Harding SP, Haritoglou C, Heckenlively JR, Holz FG, Hughes G, Ioannidis JP, Ishibashi T, Joseph P, Jun G, Kamatani Y, Katsanis N, N Keilhauer C, Khan JC, Kim IK, Kiyohara Y, Klein BE, Klein R, Kovach JL, Kozak I, Lee CJ, Lee KE, Lichtner P, Lotery AJ, Meitinger T, Mitchell P, Mohand-Saïd S, Moore AT, Morgan DJ, Morrison MA, Myers CE, Naj AC, Nakamura Y, Okada Y, Orlin A, Ortube MC, Othman MI, Pappas C, Park KH, Pauer GJ, Peachey NS, Poch O, Priya RR, Reynolds R, Richardson AJ, Ripp R, Rudolph G, Ryu E, Sahel JA, Schaumberg DA, Scholl HP, Schwartz SG, Scott WK, Shahid H, Sigurdsson H, Silvestri G, Sivakumaran TA, Smith RT, Sobrin L, Souied EH, Stambolian DE, Stefansson H, Sturgill-Short GM, Takahashi A, Tosakulwong N, Truitt BJ, Tsironi EE, Uitterlinden AG, van Duijn CM, Vijaya L, Vingerling JR, Vithana EN, Webster AR, Wichmann HE, Winkler TW, Wong TY, Wright AF, Zelenika D, Zhang M, Zhao L, Zhang K, Klein ML, Hageman GS, Lathrop GM, Stefansson K, Allikmets R, Baird PN, Gorin MB, Wang JJ, Klaver CC, Seddon JM, Pericak-Vance MA, Iyengar SK, Yates JR, Swaroop A, Weber BH, Kubo M, Deangelis MM, Léveillard T, Thorsteinsdottir U, Haines JL, Farrer LA, Heid IM, Abecasis GR; AMD Gene Consortium.

Nat Genet. 2013 Apr;45(4):433-9, 439e1-2. doi: 10.1038/ng.2578. Epub 2013 Mar 3.

40.

Reading visual braille with a retinal prosthesis.

Lauritzen TZ, Harris J, Mohand-Said S, Sahel JA, Dorn JD, McClure K, Greenberg RJ.

Front Neurosci. 2012 Nov 22;6:168. doi: 10.3389/fnins.2012.00168. eCollection 2012.

41.

NMNAT1 mutations cause Leber congenital amaurosis.

Falk MJ, Zhang Q, Nakamaru-Ogiso E, Kannabiran C, Fonseca-Kelly Z, Chakarova C, Audo I, Mackay DS, Zeitz C, Borman AD, Staniszewska M, Shukla R, Palavalli L, Mohand-Said S, Waseem NH, Jalali S, Perin JC, Place E, Ostrovsky J, Xiao R, Bhattacharya SS, Consugar M, Webster AR, Sahel JA, Moore AT, Berson EL, Liu Q, Gai X, Pierce EA.

Nat Genet. 2012 Sep;44(9):1040-5. doi: 10.1038/ng.2361. Epub 2012 Jul 29.

42.

Temporal properties of visual perception on electrical stimulation of the retina.

Pérez Fornos A, Sommerhalder J, da Cruz L, Sahel JA, Mohand-Said S, Hafezi F, Pelizzone M.

Invest Ophthalmol Vis Sci. 2012 May 4;53(6):2720-31. doi: 10.1167/iovs.11-9344.

PMID:
22447863
43.

Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness.

Audo I, Bujakowska K, Orhan E, Poloschek CM, Defoort-Dhellemmes S, Drumare I, Kohl S, Luu TD, Lecompte O, Zrenner E, Lancelot ME, Antonio A, Germain A, Michiels C, Audier C, Letexier M, Saraiva JP, Leroy BP, Munier FL, Mohand-Saïd S, Lorenz B, Friedburg C, Preising M, Kellner U, Renner AB, Moskova-Doumanova V, Berger W, Wissinger B, Hamel CP, Schorderet DF, De Baere E, Sharon D, Banin E, Jacobson SG, Bonneau D, Zanlonghi X, Le Meur G, Casteels I, Koenekoop R, Long VW, Meire F, Prescott K, de Ravel T, Simmons I, Nguyen H, Dollfus H, Poch O, Léveillard T, Nguyen-Ba-Charvet K, Sahel JA, Bhattacharya SS, Zeitz C.

Am J Hum Genet. 2012 Feb 10;90(2):321-30. doi: 10.1016/j.ajhg.2011.12.007. Erratum in: Am J Hum Genet. 2012 Jul 13;91(1):209.

44.

Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases.

Audo I, Bujakowska KM, Léveillard T, Mohand-Saïd S, Lancelot ME, Germain A, Antonio A, Michiels C, Saraiva JP, Letexier M, Sahel JA, Bhattacharya SS, Zeitz C.

Orphanet J Rare Dis. 2012 Jan 25;7:8. doi: 10.1186/1750-1172-7-8.

45.

℮-conome: an automated tissue counting platform of cone photoreceptors for rodent models of retinitis pigmentosa.

Clérin E, Wicker N, Mohand-Saïd S, Poch O, Sahel JA, Léveillard T.

BMC Ophthalmol. 2011 Dec 20;11:38. doi: 10.1186/1471-2415-11-38.

46.

CRB1 mutations in inherited retinal dystrophies.

Bujakowska K, Audo I, Mohand-Saïd S, Lancelot ME, Antonio A, Germain A, Léveillard T, Letexier M, Saraiva JP, Lonjou C, Carpentier W, Sahel JA, Bhattacharya SS, Zeitz C.

Hum Mutat. 2012 Feb;33(2):306-15. doi: 10.1002/humu.21653. Epub 2011 Dec 27. Review.

47.

RP1 and autosomal dominant rod-cone dystrophy: novel mutations, a review of published variants, and genotype-phenotype correlation.

Audo I, Mohand-Saïd S, Dhaenens CM, Germain A, Orhan E, Antonio A, Hamel C, Sahel JA, Bhattacharya SS, Zeitz C.

Hum Mutat. 2012 Jan;33(1):73-80. doi: 10.1002/humu.21640. Epub 2011 Dec 1.

48.

A novel DFNB31 mutation associated with Usher type 2 syndrome showing variable degrees of auditory loss in a consanguineous Portuguese family.

Audo I, Bujakowska K, Mohand-Saïd S, Tronche S, Lancelot ME, Antonio A, Germain A, Lonjou C, Carpentier W, Sahel JA, Bhattacharya S, Zeitz C.

Mol Vis. 2011;17:1598-606. Epub 2011 Jun 15.

49.

Novel C2orf71 mutations account for ∼1% of cases in a large French arRP cohort.

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