PubMed

TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness.

Audo I, Kohl S, Leroy BP, Munier FL, Guillonneau X, Mohand-Saïd S, Bujakowska K, Nandrot EF, Lorenz B, Preising M, Kellner U, Renner AB, Bernd A, Antonio A, Moskova-Doumanova V, Lancelot ME, Poloschek CM, Drumare I, Defoort-Dhellemmes S, Wissinger B, Léveillard T, Hamel CP, Schorderet DF, De Baere E, Berger W, Jacobson SG, Zrenner E, Sahel JA, Bhattacharya SS, Zeitz C.

Am J Hum Genet. 2009 Nov;85(5):720-9. Epub 2009 Nov 5.PMID: 19896113 [PubMed - in process]Related articles

PAX6 aniridia and interhemispheric brain anomalies.

Abouzeid H, Youssef MA, ElShakankiri N, Hauser P, Munier FL, Schorderet DF.

Mol Vis. 2009 Oct 17;15:2074-83.PMID: 19862335 [PubMed - in process]Related articlesFree article

Genotyping microarray for CSNB-associated genes.

Zeitz C, Labs S, Lorenz B, Forster U, Ueksti J, Kroes HY, De Baere E, Leroy BP, Cremers FP, Wittmer M, van Genderen MM, Sahel JA, Audo I, Poloschek CM, Mohand-Saïd S, Fleischhauer JC, Hueffmeier U, Moskova-Doumanova V, Levin AV, Hamel CP, Leifert D, Munier FL, Schorderet D, Zrenner E, Friedburg C, Wissinger B, Kohl S, Berger W.

Invest Ophthalmol Vis Sci. 2009 Jul 2. [Epub ahead of print]PMID: 19578023 [PubMed - as supplied by publisher]Related articles

Germline mutations in retinoma patients: relevance to low-penetrance and low-expressivity molecular basis.

Abouzeid H, Schorderet DF, Balmer A, Munier FL.

Mol Vis. 2009;15:771-7. Epub 2009 Apr 17.PMID: 19390654 [PubMed - indexed for MEDLINE]Related articlesFree article

The IC3D classification of the corneal dystrophies.

Weiss JS, Møller HU, Lisch W, Kinoshita S, Aldave AJ, Belin MW, Kivelä T, Busin M, Munier FL, Seitz B, Sutphin J, Bredrup C, Mannis MJ, Rapuano CJ, Van Rij G, Kim EK, Klintworth GK.

Cornea. 2008 Dec;27 Suppl 2:S1-83. Review. English, Spanish. PMID: 19337156 [PubMed - indexed for MEDLINE]Related articles

[Gene therapy for hereditary eye diseases: where are we?]

Viet Tran H, Schorderet DF, Kostic C, Munier FL, Arsenijevic Y.

Rev Med Suisse. 2009 Jan 14;5(186):118-23. French. PMID: 19238930 [PubMed - indexed for MEDLINE]Related articles

Mutations in CNNM4 cause recessive cone-rod dystrophy with amelogenesis imperfecta.

Polok B, Escher P, Ambresin A, Chouery E, Bolay S, Meunier I, Nan F, Hamel C, Munier FL, Thilo B, Mégarbané A, Schorderet DF.

Am J Hum Genet. 2009 Feb;84(2):259-65. Epub 2009 Feb 5.PMID: 19200527 [PubMed - indexed for MEDLINE]Related articlesFree article

Awareness of eye tumours in Down syndrome.

Munier FL, Satgé D.

Br J Ophthalmol. 2009 Feb;93(2):276. No abstract available. PMID: 19174409 [PubMed - indexed for MEDLINE]Related articles

Mutations in NR2E3 can cause dominant or recessive retinal degenerations in the same family.

Escher P, Gouras P, Roduit R, Tiab L, Bolay S, Delarive T, Chen S, Tsai CC, Hayashi M, Zernant J, Merriam JE, Mermod N, Allikmets R, Munier FL, Schorderet DF.

Hum Mutat. 2009 Mar;30(3):342-51.PMID: 19006237 [PubMed - indexed for MEDLINE]Related articles

A new locus for congenital cataract, microcornea, microphthalmia, and atypical iris coloboma maps to chromosome 2.

Abouzeid H, Meire FM, Osman I, ElShakankiri N, Bolay S, Munier FL, Schorderet DF.

Ophthalmology. 2009 Jan;116(1):154-162.e1. Epub 2008 Nov 12.PMID: 19004499 [PubMed - indexed for MEDLINE]Related articles

Unilateral macular oedema in Zermatt and Stargardt macular dystrophies.

Abouzeid H, Wolfensberger TJ, Schorderet DF, Munier FL.

Br J Ophthalmol. 2009 Oct;93(10):1376-7, 1407-8. Epub 2008 Oct 6. No abstract available. PMID: 18838412 [PubMed - indexed for MEDLINE]Related articles

Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice.

Yang Z, Chen Y, Lillo C, Chien J, Yu Z, Michaelides M, Klein M, Howes KA, Li Y, Kaminoh Y, Chen H, Zhao C, Chen Y, Al-Sheikh YT, Karan G, Corbeil D, Escher P, Kamaya S, Li C, Johnson S, Frederick JM, Zhao Y, Wang C, Cameron DJ, Huttner WB, Schorderet DF, Munier FL, Moore AT, Birch DG, Baehr W, Hunt DM, Williams DS, Zhang K.

J Clin Invest. 2008 Aug;118(8):2908-16.PMID: 18654668 [PubMed - indexed for MEDLINE]Related articlesFree article

Overexpression of a mutant form of TGFBI/BIGH3 induces retinal degeneration in transgenic mice.

Bustamante M, Tasinato A, Maurer F, Elkochairi I, Lepore MG, Arsenijevic Y, Pedrazzini T, Munier FL, Schorderet DF.

Mol Vis. 2008 Jun 13;14:1129-37.PMID: 18568131 [PubMed - indexed for MEDLINE]Related articlesFree article

Mutation in the human homeobox gene NKX5-3 causes an oculo-auricular syndrome.

Schorderet DF, Nichini O, Boisset G, Polok B, Tiab L, Mayeur H, Raji B, de la Houssaye G, Abitbol MM, Munier FL.

Am J Hum Genet. 2008 May;82(5):1178-84.PMID: 18423520 [PubMed - indexed for MEDLINE]Related articlesFree article

New developments in external beam radiotherapy for retinoblastoma: from lens to normal tissue-sparing techniques.

Munier FL, Verwey J, Pica A, Balmer A, Zografos L, Abouzeid H, Timmerman B, Goitein G, Moeckli R.

Clin Experiment Ophthalmol. 2008 Jan-Feb;36(1):78-89. Review.PMID: 18290958 [PubMed - indexed for MEDLINE]Related articles

Genotype-phenotype correlation of age-related macular degeneration: influence of complement factor H polymorphism.

Droz I, Mantel I, Ambresin A, Faouzi M, Schorderet DF, Munier FL.

Br J Ophthalmol. 2008 Apr;92(4):513-7. Epub 2008 Jan 22.PMID: 18211923 [PubMed - indexed for MEDLINE]Related articles

(106)Ruthenium brachytherapy for retinoblastoma.

Abouzeid H, Moeckli R, Gaillard MC, Beck-Popovic M, Pica A, Zografos L, Balmer A, Pampallona S, Munier FL.

Int J Radiat Oncol Biol Phys. 2008 Jul 1;71(3):821-8. Epub 2008 Jan 22.PMID: 18207660 [PubMed - indexed for MEDLINE]Related articles

Novel TULP1 mutation causing leber congenital amaurosis or early onset retinal degeneration.

Mataftsi A, Schorderet DF, Chachoua L, Boussalah M, Nouri MT, Barthelmes D, Borruat FX, Munier FL.

Invest Ophthalmol Vis Sci. 2007 Nov;48(11):5160-7.PMID: 17962469 [PubMed - indexed for MEDLINE]Related articlesFree article

Ten novel RB1 gene mutations in patients with retinoblastoma.

Abouzeid H, Munier FL, Thonney F, Schorderet DF.

Mol Vis. 2007 Sep 19;13:1740-5.PMID: 17960112 [PubMed - indexed for MEDLINE]Related articlesFree article

De novo mutation in the BIGH3/TGFB1 gene causing granular corneal dystrophy.

Hilton EN, Black GC, Manson FD, Schorderet DF, Munier FL.

Br J Ophthalmol. 2007 Aug;91(8):1083-4. No abstract available. PMID: 17638818 [PubMed - indexed for MEDLINE]Related articles

Patient with Fanconi Syndrome (FS) and retinitis pigmentosa (RP) caused by a deletion and duplication of mitochondrial DNA (mtDNA).

Pitchon EM, Cachat F, Jacquemont S, Hinard C, Borruat FX, Schorderet DF, Morris MA, Munier FL.

Klin Monbl Augenheilkd. 2007 Apr;224(4):340-3.PMID: 17458809 [PubMed - indexed for MEDLINE]Related articles

Novel mutations in FRMD7 in X-linked congenital nystagmus. Mutation in brief #963. Online.

Schorderet DF, Tiab L, Gaillard MC, Lorenz B, Klainguti G, Kerrison JB, Traboulsi EI, Munier FL.

Hum Mutat. 2007 May;28(5):525.PMID: 17397053 [PubMed - indexed for MEDLINE]Related articles

Retinopathy in Danon disease.

Schorderet DF, Cottet S, Lobrinus JA, Borruat FX, Balmer A, Munier FL.

Arch Ophthalmol. 2007 Feb;125(2):231-6.PMID: 17296900 [PubMed - indexed for MEDLINE]Related articlesFree article

Microarray analysis reveals retinal stem cell characteristics of the adult human eye. For contributed volumes.

Angénieux B, Michaut L, Schorderet DE, Munier FL, Gehring W, Arsenijevic Y.

Adv Exp Med Biol. 2006;572:377-80. No abstract available. PMID: 17249599 [PubMed - indexed for MEDLINE]Related articles

Lentiviral vectors containing a retinal pigment epithelium specific promoter for leber congenital amaurosis gene therapy. Lentiviral gene therapy for LCA.

Bemelmans AP, Kostic C, Hornfeld D, Jaquet M, Crippa SV, Hauswirth WW, Lem J, Wang Z, Schorderet DE, Munier FL, Wenzel A, Arsenijevic Y.

Adv Exp Med Biol. 2006;572:247-53. No abstract available. PMID: 17249581 [PubMed - indexed for MEDLINE]Related articles

BMI1 loss delays photoreceptor degeneration in Rd1 mice. Bmi1 loss and neuroprotection in Rd1 mice.

Zencak D, Crippa SV, Tekaya M, Tanger E, Schorderet DE, Munier FL, van Lohuizen M, Arsenijevic Y.

Adv Exp Med Biol. 2006;572:209-15.PMID: 17249577 [PubMed - indexed for MEDLINE]Related articles

Trilateral retinoblastoma with suprasellar tumor and associated pineal cyst.

Popovic MB, Diezi M, Kuchler H, Abouzeid H, Maeder P, Balmer A, Munier FL.

J Pediatr Hematol Oncol. 2007 Jan;29(1):53-6.PMID: 17230067 [PubMed - indexed for MEDLINE]Related articles

Retinal stem cells transplanted into models of late stages of retinitis pigmentosa preferentially adopt a glial or a retinal ganglion cell fate.

Canola K, Angénieux B, Tekaya M, Quiambao A, Naash MI, Munier FL, Schorderet DF, Arsenijevic Y.

Invest Ophthalmol Vis Sci. 2007 Jan;48(1):446-54.PMID: 17197566 [PubMed - indexed for MEDLINE]Related articlesFree article

Exclusion of COL8A1, the gene encoding the alpha2(VIII) chain of type VIII collagen, as a candidate for Fuchs endothelial dystrophy and posterior polymorphous corneal dystrophy.

Urquhart JE, Biswas S, Black GC, Munier FL, Sutphin J.

Br J Ophthalmol. 2006 Nov;90(11):1430-1. No abstract available. PMID: 17057173 [PubMed - indexed for MEDLINE]Related articlesFree article

Lentiviral gene transfer of RPE65 rescues survival and function of cones in a mouse model of Leber congenital amaurosis.

Bemelmans AP, Kostic C, Crippa SV, Hauswirth WW, Lem J, Munier FL, Seeliger MW, Wenzel A, Arsenijevic Y.

PLoS Med. 2006 Oct;3(10):e347.PMID: 17032058 [PubMed - indexed for MEDLINE]Related articlesFree article

Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindness.

Zeitz C, Kloeckener-Gruissem B, Forster U, Kohl S, Magyar I, Wissinger B, Mátyás G, Borruat FX, Schorderet DF, Zrenner E, Munier FL, Berger W.

Am J Hum Genet. 2006 Oct;79(4):657-67. Epub 2006 Aug 23.PMID: 16960802 [PubMed - indexed for MEDLINE]Related articlesFree article

Systemic investigation of keratoepithelin deposits in TGFBI/BIGH3-related corneal dystrophy.

El Kochairi I, Letovanec I, Uffer S, Munier FL, Chaubert P, Schorderet DF.

Mol Vis. 2006 May 10;12:461-6.PMID: 16710170 [PubMed - indexed for MEDLINE]Related articlesFree article

A subset of patients with epithelial basement membrane corneal dystrophy have mutations in TGFBI/BIGH3.

Boutboul S, Black GC, Moore JE, Sinton J, Menasche M, Munier FL, Laroche L, Abitbol M, Schorderet DF.

Hum Mutat. 2006 Jun;27(6):553-7.PMID: 16652336 [PubMed - indexed for MEDLINE]Related articles

Eight previously unidentified mutations found in the OA1 ocular albinism gene.

Mayeur H, Roche O, Vêtu C, Jaliffa C, Marchant D, Dollfus H, Bonneau D, Munier FL, Schorderet DF, Levin AV, Héon E, Sutherland J, Lacombe D, Said E, Mezer E, Kaplan J, Dufier JL, Marsac C, Menasche M, Abitbol M.

BMC Med Genet. 2006 Apr 28;7:41.PMID: 16646960 [PubMed - indexed for MEDLINE]Related articlesFree article

Phenotype of three consanguineous Tunisian families with early-onset retinal degeneration caused by an R91W homozygous mutation in the RPE65 gene.

El Matri L, Ambresin A, Schorderet DF, Kawasaki A, Seeliger MW, Wenzel A, Arsenijevic Y, Borruat FX, Munier FL.

Graefes Arch Clin Exp Ophthalmol. 2006 Sep;244(9):1104-12. Epub 2006 Feb 28.PMID: 16518657 [PubMed - indexed for MEDLINE]Related articles

D-TAT transporter as an ocular peptide delivery system.

Schorderet DF, Manzi V, Canola K, Bonny C, Arsenijevic Y, Munier FL, Maurer F.

Clin Experiment Ophthalmol. 2005 Dec;33(6):628-35.PMID: 16402957 [PubMed - indexed for MEDLINE]Related articles

Meesmann corneal dystrophy (MECD): report of 2 families and a novel mutation in the cornea specific keratin 12 (KRT12) gene.

Nichini O, Manzi V, Munier FL, Schorderet DF.

Ophthalmic Genet. 2005 Dec;26(4):169-73.PMID: 16352477 [PubMed - indexed for MEDLINE]Related articles

Keratoepithelin in secondary corneal amyloidosis.

Suesskind D, Auw-Haedrich C, Schorderet DF, Munier FL, Loeffler KU.

Graefes Arch Clin Exp Ophthalmol. 2006 Jun;244(6):725-31. Epub 2005 Dec 6.PMID: 16331487 [PubMed - indexed for MEDLINE]Related articles

Association Down syndrome-retinoblastoma: a new observation.

Satgè D, Schorderet DF, Balmer A, Beck-Popovic M, Addor MC, Beckmann JS, Munier FL.

Ophthalmic Genet. 2005 Sep;26(3):151-2. No abstract available. PMID: 16272063 [PubMed - indexed for MEDLINE]Related articles

Benign pineal cysts in children with bilateral retinoblastoma: a new variant of trilateral retinoblastoma?

Beck Popovic M, Balmer A, Maeder P, Braganca T, Munier FL.

Pediatr Blood Cancer. 2006 Jun;46(7):755-61.PMID: 16003734 [PubMed - indexed for MEDLINE]Related articles

Bmi1 loss produces an increase in astroglial cells and a decrease in neural stem cell population and proliferation.

Zencak D, Lingbeek M, Kostic C, Tekaya M, Tanger E, Hornfeld D, Jaquet M, Munier FL, Schorderet DF, van Lohuizen M, Arsenijevic Y.

J Neurosci. 2005 Jun 15;25(24):5774-83.PMID: 15958744 [PubMed - indexed for MEDLINE]Related articlesFree article

Mutations in PIP5K3 are associated with François-Neetens mouchetée fleck corneal dystrophy.

Li S, Tiab L, Jiao X, Munier FL, Zografos L, Frueh BE, Sergeev Y, Smith J, Rubin B, Meallet MA, Forster RK, Hejtmancik JF, Schorderet DF.

Am J Hum Genet. 2005 Jul;77(1):54-63. Epub 2005 May 18.PMID: 15902656 [PubMed - indexed for MEDLINE]Related articlesFree article

Idiopathic cyclitic retrolental membrane in children.

Oberhansli C, Munier FL, Uffer S, Zografos L, Wolfensberger TJ.

Klin Monbl Augenheilkd. 2005 Mar;222(3):271-4.PMID: 15785999 [PubMed - indexed for MEDLINE]Related articles

[Optical coherence tomography in Malattia Leventinese]

Gaillard MC, Wolfensberger TJ, Uffer S, Mantel I, Pournaras JA, Schorderet DF, Munier FL.

Klin Monbl Augenheilkd. 2005 Mar;222(3):180-5. French. PMID: 15785976 [PubMed - indexed for MEDLINE]Related articles

Lentiviral vector-mediated gene transfer in adult mouse photoreceptors is impaired by the presence of a physical barrier.

Grüter O, Kostic C, Crippa SV, Perez MT, Zografos L, Schorderet DF, Munier FL, Arsenijevic Y.

Gene Ther. 2005 Jun;12(11):942-7.PMID: 15772686 [PubMed - indexed for MEDLINE]Related articles

Chemotherapy for retinoblastoma.

Chan HS, Gallie BL, Munier FL, Beck Popovic M.

Ophthalmol Clin North Am. 2005 Mar;18(1):55-63, viii. Review.PMID: 15763191 [PubMed - indexed for MEDLINE]Related articles

CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia.

Kohl S, Varsanyi B, Antunes GA, Baumann B, Hoyng CB, Jägle H, Rosenberg T, Kellner U, Lorenz B, Salati R, Jurklies B, Farkas A, Andreasson S, Weleber RG, Jacobson SG, Rudolph G, Castellan C, Dollfus H, Legius E, Anastasi M, Bitoun P, Lev D, Sieving PA, Munier FL, Zrenner E, Sharpe LT, Cremers FP, Wissinger B.

Eur J Hum Genet. 2005 Mar;13(3):302-8.PMID: 15657609 [PubMed - indexed for MEDLINE]Related articlesFree article

Bietti's crystalline corneoretinal dystrophy: a cross-sectional study.

Mataftsi A, Zografos L, Millá E, Secrétan M, Munier FL.

Retina. 2004 Jun;24(3):416-26.PMID: 15187665 [PubMed - indexed for MEDLINE]Related articles

Tissue inhibitor of metalloproteinases-3 (TIMP-3) is a binding partner of epithelial growth factor-containing fibulin-like extracellular matrix protein 1 (EFEMP1). Implications for macular degenerations.

Klenotic PA, Munier FL, Marmorstein LY, Anand-Apte B.

J Biol Chem. 2004 Jul 16;279(29):30469-73. Epub 2004 Apr 28.PMID: 15123717 [PubMed - indexed for MEDLINE]Related articlesFree article

CRYBA3/A1 gene mutation associated with suture-sparing autosomal dominant congenital nuclear cataract: a novel phenotype.

Ferrini W, Schorderet DF, Othenin-Girard P, Uffer S, Héon E, Munier FL.

Invest Ophthalmol Vis Sci. 2004 May;45(5):1436-41.PMID: 15111599 [PubMed - indexed for MEDLINE]Related articlesFree article