Daniel Schorderet

Publications | Mémoires et thèses

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344 publications

2024 | 2023 | 2022 | 2021 | 2020 | 2019 | 2018 | 2017 | 2016 | 2015 | 2014 | 2013 | 2012 | 2011 | 2010 | 2009 | 2008 | 2007 | 2006 | 2005 | 2004 | ...
2024
Genetics of Retinitis Pigmentosa and Other Hereditary Retinal Disorders in Western Switzerland.
Conti G.M., Vaclavik V., Rivolta C., Escher P., Schorderet D.F., Munier F.L., Tran H.V., 2024. Ophthalmic research, 67 (1) pp. 172-182. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_8DEDBEF66B83]
2023
 
Analyse bei Verdacht auf Achromatopsie mit multimodaler Diagnostik [Analysis of Suspected Achromatopsia by Multimodal Diagnostic Testing]
Kugler S.A., Valmaggia C., Sturm V., Schorderet D.F., Todorova M.G., 2023/10. Klinische Monatsblatter fur Augenheilkunde, 240 (10) pp. 1158-1173. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_7926DF7BAE47]
2022
 
OCT-angiography assessing quiescent and active choroidal neovascularization in retinitis pigmentosa associated with PRPH2 pathogenic variant.
Falfoul Y., Matri K.E., Habibi I., Halouani S., Chebil A., Schorderet D., El Matri L., 2022/07. European journal of ophthalmology, 32 (4) pp. NP98-NP102. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_BD93382CBF85]
Incomplete Recovery of Zebrafish Retina Following Cryoinjury.
Džulová D., Lawless D., Pinton G.G., Renner N.A., Schorderet D.F., 2022/04/18. Cells, 11 (8) p. 1373. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_1A3CB13F391D]
Contribution of Whole-Genome Sequencing and Transcript Analysis to Decipher Retinal Diseases Associated with MFSD8 Variants.
Poncet A.F., Grunewald O., Vaclavik V., Meunier I., Drumare I., Pelletier V., Bocquet B., Todorova M.G., Le Moing A.G., Devos A. et al., 2022/04/13. International journal of molecular sciences, 23 (8) p. 4294. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_5DA25ACED4D1]
Premature Vertebral Mineralization in hmx1-Mutant Zebrafish.
El Fersioui Y., Pinton G., Allaman-Pillet N., Schorderet D.F., 2022/03/24. Cells, 11 (7) p. 1088. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_ABFAD8F72B59]
New COL6A6 Variant Causes Autosomal Dominant Retinitis Pigmentosa in a Four-Generation Family.
Vaclavik V., Tiab L., Sun Y.J., Mahajan V.B., Moulin A., Allaman-Pillet N., Munier F.L., Schorderet D.F., 2022/03/02. Investigative ophthalmology & visual science, 63 (3) p. 23. Peer-reviewed.
[URN][DOI][Pmid][serval:BIB_7448F0184176]
2021
 
Crystals deposits in the anterior and posterior lens cortex in Bietti corneo-retinal dystrophy.
Louati Y., Vaclavik V., Moulin A., Schorderet D., Munier F.L., Viet Tran H., 2021/12. Ophthalmic genetics, 42 (6) pp. 773-779. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_422F0C6C589F]
Macular Dystrophy with Bilateral Macular Telangiectasia Related to the CYP2U1 Pathogenic Variant Assessed with Multimodal Imaging Including OCT-Angiography.
El Matri K., Falfoul Y., Habibi I., Chebil A., Schorderet D., El Matri L., 2021/11/15. Genes, 12 (11) p. 1795. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_5F7A9A0EB41B]
Piperlongumine promotes death of retinoblastoma cancer cells.
Allaman-Pillet N., Schorderet D.F., 2021/04/27. Oncotarget, 12 (9) pp. 907-916. Peer-reviewed.
[URN][DOI][Pmid][serval:BIB_7F61A64ED104]
Different Phenotypes in Pseudodominant Inherited Retinal Dystrophies.
Habibi I., Falfoul Y., Tran H.V., El Matri K., Chebil A., El Matri L., Schorderet D.F., 2021. Frontiers in cell and developmental biology, 9 p. 625560. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_4BCF3DBE8CE1]
Hmx1 regulates urfh1 expression in the craniofacial region in zebrafish.
El Fersioui Y., Pinton G., Allaman-Pillet N., Schorderet D.F., 2021. PloS one, 16 (1) pp. e0245239. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_036879F271AC]
2020
 
Malattia Leventinese: EFEMP1 R345W Variant Is a Hot Spot Mutation, Not a Founder Mutation.
Vaclavik V., Tran H.V., Schorderet Md PhD D.F., 2020/10. Ophthalmology. Retina, 4 (10) p. 1023. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_4C6A535CC64F]
Genetic spectrum of retinal dystrophies in Tunisia.
Habibi I., Falfoul Y., Turki A., Hassairi A., El Matri K., Chebil A., Schorderet D.F., El Matri L., 2020/07/08. Scientific reports, 10 (1) p. 11199. Peer-reviewed.
[URN][DOI][Pmid][serval:BIB_6862846BF33D]
Correction: Habibi I. et al. "Clinical and Genetic Findings of Autosomal Recessive Bestrophinopathy (ARB)" Genes, 2019, 10, 953.
Habibi I., Falfoul Y., Todorova M.G., Wyrsch S., Vaclavik V., Helfenstein M., Turki A., El Matri K., El Matri L., Schorderet D.F., 2020/05/03. Genes, 11 (5). Peer-reviewed.
[URN][DOI][Pmid][serval:BIB_B847D532FCF1]
2019
Clinical and Genetic Findings of Autosomal Recessive Bestrophinopathy (ARB).
Habibi I., Falfoul Y., Todorova M.G., Wyrsch S., Vaclavik V., Helfenstein M., Turki A., Matri K.E., Matri L.E., Schorderet D.F., 2019/11/21. Genes, 10 (12). Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_E5BC06429526]
 
Mutation update: TGFBI pathogenic and likely pathogenic variants in corneal dystrophies.
Kheir V., Cortés-González V., Zenteno J.C., Schorderet D.F., 2019/06. Human mutation, 40 (6) pp. 675-693. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_AEBF2D5AF402]
 
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. et al., 2019/06. Human mutation, 40 (6) pp. 765-787. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_E45B22185DFD]
 
Analyse der hereditären Optikusneuropathien [Analysis of Inherited Optic Neuropathies]
Lazdinyte S., Schorderet D.F., Schaller A., Valmaggia C., Todorova M.G., 2019/04. Klinische Monatsblatter fur Augenheilkunde, 236 (4) pp. 451-461. Peer-reviewed.
[DOI][Pmid][serval:BIB_84C20974AAC2]
 
Neue PDE6B-Mutation bei Retinitis pigmentosa – 3 Fallberichte [Novel PDE6B Mutation Presenting with Retinitis Pigmentosa - A Case Series of Three Patients]
Palmowski-Wolfe A., Stingl K., Habibi I., Schorderet D., Tran H.V., 2019/04. Klinische Monatsblatter fur Augenheilkunde, 236 (4) pp. 562-567. Peer-reviewed.
[DOI][Pmid][serval:BIB_909D58EBB579]
 
Erratum: Neue PDE6B-Mutation bei Retinitis pigmentosa – 3 Fallberichte [Correction: Novel PDE6B Mutation Presenting with Retinitis Pigmentosa - A Case Series of Three Patients]
Palmowski-Wolfe A., Stingl K., Habibi I., Schorderet D., Tran H.V., 2019/02/15. Klinische Monatsblatter fur Augenheilkunde, 236 (4) pp. e37. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_04E1D6958659]
2018
 
CRX-linked macular dystrophy with intrafamilial variable expressivity.
Romdhane K., Vaclavik V., Schorderet D.F., Munier F.L., Viet Tran H., 2018/10. Ophthalmic genetics, 39 (5) pp. 637-641. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_B8469959632B]
 
Higher retinal vessel oxygen saturation: investigating its relationship with macular oedema in retinitis pigmentosa patients.
Bojinova R.I., Schorderet D.F., Valmaggia C., Türksever C., Schoetzau A., Todorova M.G., 2018/07. Eye, 32 (7) pp. 1209-1219. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_A6D786D52826]
Phenotypic Progression of Stargardt Disease in a Large Consanguineous Tunisian Family Harboring New ABCA4 Mutations.
Falfoul Y., Habibi I., Turki A., Chebil A., Hassairi A., Schorderet D.F., El Matri L., 2018. Journal of ophthalmology, 2018 p. 1030184. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_678A687FEF49]
2017
 
Abnormal creatine transport of mutations in monocarboxylate transporter 12 (MCT12) found in patients with age-related cataract can be partially rescued by exogenous chaperone CD147.
Stäubli A., Capatina N., Fuhrer Y., Munier F.L., Labs S., Schorderet D.F., Tiwari A., Verrey F., Heon E., Cheng C.Y. et al., 2017/11/01. Human molecular genetics, 26 (21) pp. 4203-4214. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_0A4C20417A37]
 
Reduced metabolic function and structural alterations in inherited retinal dystrophies: investigating the effect of peripapillary vessel oxygen saturation and vascular diameter on the retinal nerve fibre layer thickness.
Bojinova R.I., Türksever C., Schötzau A., Valmaggia C., Schorderet D.F., Todorova M.G., 2017/05. Acta ophthalmologica, 95 (3) pp. 252-261. Peer-reviewed.
[DOI][Pmid][serval:BIB_EB66F60CCF9A]
 
Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies.
Xu M., Xie Y.A., Abouzeid H., Gordon C.T., Fiorentino A., Sun Z., Lehman A., Osman I.S., Dharmat R., Riveiro-Alvarez R. et al., 2017/04/06. American journal of human genetics, 100 (4) pp. 592-604. Peer-reviewed.
[DOI][Pmid][serval:BIB_370538AC3F60]
 
Exome sequencing confirms ZNF408 mutations as a cause of familial retinitis pigmentosa.
Habibi I., Chebil A., Kort F., Schorderet D.F., El Matri L., 2017. Ophthalmic genetics, 38 (5) pp. 494-497. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_37F3A5A224DE]
2016
Identifying mutations in Tunisian families with retinal dystrophy.
Habibi I., Chebil A., Falfoul Y., Allaman-Pillet N., Kort F., Schorderet D.F., El Matri L., 2016/11/22. Scientific reports, 6 p. 37455. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_53312B0D5052]
Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility.
Bedoni N., Haer-Wigman L., Vaclavik V., Tran V.H., Farinelli P., Balzano S., Royer-Bertrand B., El-Asrag M.E., Bonny O., Ikonomidis C. et al., 2016/10/15. Human molecular genetics, 25 (20) pp. 4546-4555. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_800C2C1B5285]
 
Preserved functional and structural integrity of the papillomacular area correlates with better visual acuity in retinitis pigmentosa.
Konieczka K., Bojinova R.I., Valmaggia C., Schorderet D.F., Todorova M.G., Medscape, 2016/10. Eye (London, England), 30 (10) pp. 1310-1323. Peer-reviewed.
[DOI][Pmid][serval:BIB_ABF27ED18299]
 
Metabolic and functional changes in retinitis pigmentosa: comparing retinal vessel oximetry to full-field electroretinography, electrooculogram and multifocal electroretinography.
Todorova M.G., Türksever C., Schötzau A., Schorderet D.F., Valmaggia C., 2016/05. Acta ophthalmologica, 94 (3) pp. e231-41. Peer-reviewed.
[DOI][Pmid][serval:BIB_2A8DC322452C]
 
Rekurrente ELOVL4 Genmutation verursacht dominante Stargardt-Krankheit in einer Schweizer Familie [Swiss Family with Dominant Stargardt Disease Caused by a Recurrent Mutation in the ELOVL4 Gene]
Tran H.V., Moret E., Vaclavik V., Marcelli F., Abitbol M.M., Munier F.L., Schorderet D.F., 2016/04. Klinische Monatsblatter fur Augenheilkunde, 233 (4) pp. 475-477. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_968B2801A145]
 
Corrélations phénotype-génotype de la rétinopathie pigmentaire non syndromique : à propos de dix familles tunisiennes [Genotype-phenotype correlation in ten Tunisian families with non-syndromic retinitis pigmentosa]
Chebil A., Falfoul Y., Habibi I., Munier F., Schorderet D., El Matri L., 2016/03. Journal francais d'ophtalmologie, 39 (3) pp. 277-286. Peer-reviewed.
[DOI][Pmid][serval:BIB_582278E6BB16]
Comparative transcriptome profiling of the injured zebrafish and mouse hearts identifies miRNA-dependent repair pathways.
Crippa S., Nemir M., Ounzain S., Ibberson M., Berthonneche C., Sarre A., Boisset G., Maison D., Harshman K., Xenarios I. et al., 2016. Cardiovascular Research, 110 (1) pp. 73-84. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_4F5525264BB3]
 
JNK Inhibition Reduced Retinal Ganglion Cell Death after Ischemia/Reperfusion In Vivo and after Hypoxia In Vitro.
Produit-Zengaffinen N., Favez T., Pournaras C.J., Schorderet D.F., 2016. Advances In Experimental Medicine and Biology, 854 pp. 677-683. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_B706A84D9A4C]
 
Potential blindness in children of patients with hereditary bone disease.
Kheir V., Munier F.L., Aubry-Rozier B., Schorderet D.F., 2016. Osteoporosis International : A Journal Established As Result of Cooperation Between the European Foundation For Osteoporosis and the National Osteoporosis Foundation of the Usa, 27 (2) pp. 841-844. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_400DAE403C5B]
2015
Compound Heterozygous VSX2 Mutation Causing Bilateral Anophthalmia in a Consanguineous Egyptian Family
Jakobsson Cecilia, Youssef Mohamed A, Marzouk Iman, ElShakankiri Nihal, Nader Bayoumi, Munier Francis L., Schorderet Daniel F, Abouzeid Hana, 2015/05. Journal of Clinical & Experimental Ophthalmology, 6 (3) p. 441. Peer-reviewed.
[URN][DOI][serval:BIB_FB7AC5A6622F]
 
Abrogation of HMX1 function causes rare oculoauricular syndrome associated with congenital cataract, anterior segment dysgenesis, and retinal dystrophy.
Gillespie R.L., Urquhart J., Lovell S.C., Biswas S., Parry N.R., Schorderet D.F., Lloyd I.C., Clayton-Smith J., Black G.C., 2015. Investigative Ophthalmology and Visual Science, 56 (2) pp. 883-891. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_E0E2B7A6B865]
 
BIRO1, a cell-permeable BH3 peptide, promotes mitochondrial fragmentation and death of retinoblastoma cells.
Allaman-Pillet N., Oberson A., Schorderet D.F., 2015. Molecular Cancer Research, 13 (1) pp. 86-97. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_8C6A4FC7395F]
 
Corneal Dystrophies: Overview and Summary.
Schorderet D., 2015. Progress in Molecular Biology and Translational Science, 134 pp. 73-78. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_C26292647512]
 
Differential Dimerization of Variants Linked to Enhanced S-Cone Sensitivity Syndrome (ESCS) Located in the NR2E3 Ligand-Binding Domain.
von Alpen D., Tran H.V., Guex N., Venturini G., Munier F.L., Schorderet D.F., Haider N.B., Escher P., 2015. Human Mutation, 36 (6) pp. 599-610.
[DOI][WoS][Pmid][serval:BIB_C3924850735E]
 
Molecular Analysis of NOTCH2 in Patients with Primary Open-Angle Glaucoma.
Jakobsson C., Kheir V., Munier F.L., Schorderet D.F., 2015. Klinische Monatsblätter Für Augenheilkunde, 232 (4) pp. 427-431. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_9EC27A5A7C2A]
Tgfbi/Bigh3 silencing activates ERK in mouse retina.
Allaman-Pillet N., Oberson A., Bustamante M., Tasinato A., Hummler E., Schorderet D.F., 2015. Experimental Eye Research, 140 pp. 159-170. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_D266D06B98BD]
2014
 
Retinal vessel oxygen saturation and its correlation with structural changes in retinitis pigmentosa.
Türksever C., Valmaggia C., Orgül S., Schorderet D.F., Flammer J., Todorova M.G., 2014/08. Acta Ophthalmologica, 92 (5) pp. 454-460. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_BFB8C7D611F9]
 
A2E induce a decrease of ERK1 /2 phosphorylation possibly via bFGF autocrine effect
Balmer D., Wicht L., Emery M., Schorderet D.F., Roduit R., 2014/07., 16th Internation Symposium on Retinal Degeneration RD 2014 dans A2E induce a decrease of ERK1 /2 phosphorylation possibly via bFGF autocrine effect. Peer-reviewed.
[serval:BIB_6C06C07B2434]
A Dimerized HMX1 Inhibits EPHA6/epha4b in Mouse and Zebrafish Retinas.
Marcelli F., Boisset G., Schorderet D.F., 2014. Plos One, 9 (6) pp. e100096. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_A90E74ABDEEF]
 
Autophagy induction does not protect retina against apoptosis in ischemia/reperfusion model.
Produit-Zengaffinen N., Pournaras C.J., Schorderet D.F., 2014. Advances In Experimental Medicine and Biology, 801 pp. 677-683. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_9431B272BE4D]
 
Complement Factor B Polymorphism and the Phenotype of Early Age-related Macular Degeneration.
Mantel I., Ambresin A., Moetteli L., Droz I., Roduit R., Munier F.L., Schorderet D.F., 2014. Ophthalmic Genetics, 35 (1) pp. 12-17. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_51AA14B02CD8]
Enrichment of pathogenic alleles in the brittle cornea gene, ZNF469, in keratoconus.
Lechner J., Porter L.F., Rice A., Vitart V., Armstrong D.J., Schorderet D.F., Munier F.L., Wright A.F., Inglehearn C.F., Black G.C. et al., 2014. Human Molecular Genetics, 23 (20) pp. 5527-35. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_8CB564BB9994]
 
IROme, a New High-Throughput Molecular Tool for the Diagnosis of Inherited Retinal Dystrophies-A Price Comparison with Sanger Sequencing.
Schorderet D.F., Bernasconi M., Tiab L., Favez T., Escher P., 2014. Advances In Experimental Medicine and Biology, 801 pp. 171-176. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_7056582EAB50]
 
Mutations in ALDH1A3 represent a frequent cause of microphthalmia/anophthalmia in consanguineous families.
Abouzeid H., Favez T., Schmid A., Agosti C., Youssef M., Marzouk I., El Shakankiry N., Bayoumi N., Munier F.L., Schorderet D.F., 2014. Human Mutation, 35 (8) pp. 949-953. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_D7199AA0FEBB]
 
Notch signaling in the pigmented epithelium of the anterior eye segment promotes ciliary body development at the expense of iris formation.
Sarode B., Nowell C.S., Ihm J., Kostic C., Arsenijevic Y., Moulin A.P., Schorderet D.F., Beermann F., Radtke F., 2014. Pigment Cell and Melanoma Research, 27 (4) pp. 580-589. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_399E479FDEF0]
 
Novel ADAM9 homozygous mutation in a consanguineous Egyptian family with severe cone-rod dystrophy and cataract.
El-Haig W.M., Jakobsson C., Favez T., Schorderet D.F., Abouzeid H., 2014. British Journal of Ophthalmology, 98 (12) pp. 1718-1723. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_1A89B861AD78]
 
Sauerstoffsättigung der retinalen Gefässe bei hereditären Netzhauterkrankungen Retinal Vessel Oxygen Saturation in Patients Suffering from Inherited Diseases of the Retina.
Todorova M.G., Türksever C., Schorderet D.F., Valmaggia C., 2014. Klinische Monatsblatter Fur Augenheilkunde, 231 (4) pp. 447-452. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_C195E9DECEE5]
 
Zapfen-Stäbchen-Dystrophie durch eine neue reinerbige RPE65-Mutation in Leberscher kongenitaler Amaurose Cone-Rod Dystrophy Caused by a Novel Homozygous RPE65 Mutation in Leber Congenital Amaurosis.
Jakobsson C., Othman I.S., Munier F.L., Schorderet D.F., Abouzeid H., 2014. Klinische Monatsblatter Fur Augenheilkunde, 231 (4) pp. 405-410. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_762C1A555EE1]
2013
A novel homozygous R764H mutation in crumbs homolog 1 causes autosomal recessive retinitis pigmentosa.
Tiab L., Largueche L., Chouchane I., Derouiche K., Munier F.L., El Matri L., Schorderet D.F., 2013. Molecular Vision, 19 pp. 829-834. Peer-reviewed.
[URN][WoS][Pmid][serval:BIB_E67B2F49D946]
ALDH1A3 loss of function causes bilateral anophthalmia/microphthalmia and hypoplasia of the optic nerve and optic chiasm.
Yahyavi M., Abouzeid H., Gawdat G., de Preux A.S., Xiao T., Bardakjian T., Schneider A., Choi A., Jorgenson E., Baier H. et al., 2013. Human Molecular Genetics, 22 (16) pp. 3250-3258. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_3F2C26782503]
Analysis of the Cytoprotective Role of α-Crystallins in Cell Survival and Implication of the αA-Crystallin C-Terminal Extension Domain in Preventing Bax-Induced Apoptosis.
Hamann S., Métrailler S., Schorderet D.F., Cottet S., 2013. Plos One, 8 (2) pp. e55372. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_C68C6B645111]
Autophagy defect is associated with low glucose-induced apoptosis in 661W photoreceptor cells.
Balmer D., Emery M., Andreux P., Auwerx J., Ginet V., Puyal J., Schorderet D.F., Roduit R., 2013. PLoS One, 8 (9) pp. e74162. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_9AAD44EE651C]
 
Bigh3 is upregulated in regenerating zebrafish fin.
Page L., Polok B., Bustamante M., Schorderet D.F., 2013. Zebrafish, 10 (1) pp. 36-42. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_170C70B929E8]
Dental Phenotype in Jalili Syndrome Due to a c.1312 dupC Homozygous Mutation in the CNNM4 Gene.
Luder H.U., Gerth-Kahlert C., Ostertag-Benzinger S., Schorderet D.F., 2013. Plos One, 8 (10) pp. e78529. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_4DF900DBB43C]
 
ERK1/2 pathway is activated in degenerated Rpe65-deficient mice.
Métrailler S., Emery M., Schorderet D.F., Cottet S., Roduit R., 2013. Experimental Eye Research, 116C pp. 86-95. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_6FC1C3C8157A]
Identification of HMX1 target genes: a predictive promoter model approach.
Boulling A., Wicht L., Schorderet D.F., 2013. Molecular Vision, 19 pp. 1779-1794. Peer-reviewed.
[URN][WoS][Pmid][serval:BIB_DE1779C5F19B]
IROme, a New High-Throughput Molecular Tool for the Diagnosis of Inherited Retinal Dystrophies.
Schorderet D.F., Iouranova A., Favez T., Tiab L., Escher P., 2013. Biomed Research International, 2013 p. 198089. Peer-reviewed.
[URN][DOI][Pmid][serval:BIB_45D23B9489BC]
Retinal pigment epithelium protein of 65 kDA gene-linked retinal degeneration is not modulated by chicken acidic leucine-rich epidermal growth factor-like domain containing brain protein/Neuroglycan C/ chondroitin sulfate proteoglycan 5.
Cottet S., Jüttner R., Voirol N., Chambon P., Rathjen F.G., Schorderet D.F., Escher P., 2013. Molecular Vision, 19 pp. 2312-2320. Peer-reviewed.
[URN][WoS][Pmid][serval:BIB_ACF599438AE4]
 
The Bcl-2/Bcl-XL inhibitor ABT-737 promotes death of retinoblastoma cancer cells.
Allaman-Pillet N., Oberson A., Munier F., Schorderet D.F., 2013. Ophthalmic Genetics, 34 (1-2) pp. 1-13.
[DOI][WoS][Pmid][serval:BIB_7BAF1BEE1DFC]
The cataract and glucosuria associated monocarboxylate transporter MCT12 is a new creatine transporter.
Abplanalp J., Laczko E., Philp N.J., Neidhardt J., Zuercher J., Braun P., Schorderet D.F., Munier F.L., Verrey F., Berger W. et al., 2013. Human Molecular Genetics, 22 (16) pp. 3218-3226. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_47C261C4BCFE]
2012
 
Zebrafish hmx1 promotes retinogenesis.
Boisset G., Schorderet D.F., 2012/12. Experimental Eye Research, 105 pp. 34-42. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_886E81D8249E]
 
Guidelines for the use and interpretation of assays for monitoring autophagy.
Klionsky D.J., Abdalla F.C., Abeliovich H., Abraham R.T., Acevedo-Arozena A., Adeli K., Agholme L., Agnello M., Agostinis P., Aguirre-Ghiso J.A. et al., 2012/04. Autophagy, 8 (4) pp. 445-544. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_56859EA53CC8]
 
Chiasmatic infiltration secondary to late malignant transformation of retinoma.
Mataftsi A., Zografos L., Balmer A., Uffer S., Stupp R., Janzer R.C., Pica A., Schorderet D.F., Munier F.L., 2012. Ophthalmic Genetics, 33 (3) pp. 155-158. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_64420F18E8CD]
Double Concentric Autofluorescence Ring in NR2E3-p.G56R-linked Autosomal Dominant Retinitis Pigmentosa.
Escher P., Tran H.V., Vaclavik V., Borruat F.X., Schorderet D.F., Munier F.L., 2012. Investigative Ophthalmology and Visual Science, 53 (8) pp. 4754-4764. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_5A2A809A1E52]
 
Early apoptosis of rod photoreceptors in Rpe65(-/-) mice is associated with the upregulated expression of lysosomal-mediated autophagic genes.
Métrailler S., Schorderet D.F., Cottet S., 2012. Experimental Eye Research, 96 (1) pp. 70-81. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_A269E198137D]
 
Exploration of the visual system : Part 2. In vivo analysis methods : virtual-reality optomotor system, fundus examination and fluorescent angiography
Marcelli F., Escher P., Schorderet D.F., 2012. Current Protocols in Mouse Biology, 2 pp. 207-218. Peer-reviewed.
[DOI][serval:BIB_01404DBB50D4]
 
Franceschetti hereditary recurrent corneal erosion.
Lisch W., Bron A.J., Munier F.L., Schorderet D.F., Tiab L., Lange C., Saikia P., Reinhard T., Weiss J.S., Gundlach E. et al., 2012. American Journal of Ophthalmology, 153 (6) pp. 1073-81.e4. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_D27411243EA4]
 
FYCO1 mutation hotspot in congenital cataract
Abouzeid H., Helmy G., El Sada M., Sherif M., Yacoub M.H., Boisset G., Favez T., Schorderet D.F, 2012., Association for Research in Vision and Ophthalmology dans ARVO E-Abstract 1723. Peer-reviewed.
[serval:BIB_041DE4B0E96D]
 
IROme, un nouvel outil moléculaire pour le diagnostic des dystrophies de la rétine (DR)
Schorderet D., Daniel S., Bernasconi M., Tiab L., Voirol N., Favez T., Escher P., 2012., Société Suisse d'Ophtalmologie pp. S94 dans Ophta.
[serval:BIB_6052F20FA716]
 
NR2E3-linked retinal degenerations: enhanced S-cone sensitivity syndrome (ESCS), Goldmann-Favre syndrome (GFS), clumped pigmentary retinal degeneration (CPRD), and retinitis pigmentosa (RP)
Schorderet D.F., Haider N., Escher P., 2012. pp. 437-447 dans Traboulsi E.I. (eds.) Genetic diseases of the eye, Oxford University Press.
[serval:BIB_9FCE9E975E03]
 
Para-arterial sparing phenotype in Leber congenital amaurosis associated with homozygous p.R108X SPATA-7 mutation
Kuonen A., Tran H.V., Vaclavik V., Schorderet D.F., Munier F.L., 2012., Association for Research in Vision and Ophthalmology dans ARVO E-Abstract 4590/D1077. Peer-reviewed.
[serval:BIB_D152F61258A4]
 
Pattern dystrophy with high intrafamilial variability associated with Y141C mutation in the peripherin/RDS gene and successful treatment of subfoveal CNV related to multifocal pattern type with anti-VEGF (ranibizumab) intravitreal injections.
Vaclavik V., Tran H.V., Gaillard M.C., Schorderet D.F., Munier F.L., 2012. Retina, 32 (9) pp. 1942-1949. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_DAB763ADA5EE]
 
Phenotype/genotype correlation associated with a novel nonsense Glu20stop mutation in the Rp2 gene in a three-generation family with x-linked retinitis pigmentosa
Vaclavik V., Munier F.L., Tran V.H., Schorderet D.F., 2012., Association for Research in Vision and Ophthalmology dans ARVO E-Abstract 4547/A314. Peer-reviewed.
[serval:BIB_203FDA14EAF8]
RAX and anophthalmia in humans: Evidence of brain anomalies.
Abouzeid H., Youssef M.A., Bayoumi N., Elshakankiri N., Marzouk I., Hauser P., Schorderet D.F., 2012. Molecular Vision, 18 (150-52) pp. 1449-1456. Peer-reviewed.
[URN][WoS][Pmid][serval:BIB_7EAACA0C67F1]
 
Risk assessment of recurrence in sporadic retinoblastoma using a molecular-based algorithm.
Tran H.V., Schorderet D.F., Gaillard M.C., Balmer A., Munier F.L., 2012. Ophthalmic Genetics, 33 (1) pp. 6-11. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_54877C0149B7]
VAX1 mutation associated with microphthalmia, corpus callosum agenesis and orofacial clefting-the first description of a VAX1 phenotype in humans.
Slavotinek A.M., Chao R., Vacik T., Yahyavi M., Vacik T., Abouzeid H., Bardakjian T., Schneider A., Shaw G., Sherr E.H. et al., 2012. Human Mutation, 33 (2) pp. 364-368. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_436F23A362DE]
 
Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness.
Audo I., Bujakowska K., Orhan E., Poloschek C.M., Defoort-Dhellemmes S., Drumare I., Kohl S., Luu T.D., Lecompte O., Zrenner E. et al., 2012. American Journal of Human Genetics, 90 (2) pp. 321-330. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_9A4CCAD20012]
2011
 
A Novel Homozygous R764H Mutation in CRB1 Causes Autosomal Recessive Retinitis Pigmentosa in a Consanguineous Family
Bouayed-Tiab L., Largueche L., Chouchane I., Derouiche K., Bajrami H., Favre I., Munier F.L., El Matri L., Schorderet D.F., 2011., Association for Research in Vision and Ophthalmology dans ARVO E-Abstract 2374/D637. Peer-reviewed.
[serval:BIB_BE3CC910617F]
A novel PIKFYVE mutation in fleck corneal dystrophy.
Kotoulas A., Kokotas H., Kopsidas K., Droutsas K., Grigoriadou M., Bajrami H., Schorderet D.F., Petersen M.B., 2011. Molecular Vision, 17 (301) pp. 2776-81. Peer-reviewed.
[URN][WoS][Pmid][serval:BIB_AA24930F759C]
Acute hypoglycemia induces retinal cell death in mouse.
Emery M., Schorderet D.F., Roduit R., 2011. Plos One, 6 (6) pp. e21586. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_A2CBBC46E7C4]
Altered expression of the transcription factor Mef2c during retinal degeneration in Rpe65-/- mice.
Escher P., Schorderet D.F., Cottet S., 2011. Investigative Ophthalmology and Visual Science, 52 (8) pp. 5933-5940. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_676EB63E1026]
Altered expression of β-galactosidase-1-like protein 3 (Glb1l3) in the retinal pigment epithelium (RPE)-specific 65-kDa protein knock-out mouse model of Leber's congenital amaurosis.
Le Carré J., Schorderet D.F., Cottet S., 2011. Molecular Vision, 17 pp. 1287-1297. Peer-reviewed.
[URN][WoS][Pmid][serval:BIB_F7D5B9CB3173]
 
Autofluorescence Findings Of A Novel Maculopathy In Patient With Spinocerebellar Ataxia Type 1 And Of A Cone - Rod Type Retinal Dysfunction In Three Generation Family With Spinocerebellar Ataxia Type 7
Vaclavik V., Munier F.L., Schorderet D.F., Borruat F.X., 2011., Association for Research in Vision and Ophthalmology dans ARVO E-Abstract 2993/D1087. Peer-reviewed.
[serval:BIB_0678CE67D11A]
 
Autofluorescence Study In NR2E3 p.G56R-linked Autosomal Dominant Retinitis Pigmentosa In A Single Kindred
Tran H.V., Escher P., Vaclavik V., Favre I., Bajrami H., Borruat F.X., Schorderet D.F., Munier F.L., 2011., Association for Research in Vision and Ophthalmology dans ARVO E-Abstract 6604. Peer-reviewed.
[serval:BIB_AB80FE25CB6E]
 
Autosomal-Recessive Posterior Microphthalmos Is Caused by Mutations in PRSS56, a Gene Encoding a Trypsin-Like Serine Protease.
Gal A., Rau I., El Matri L., Kreienkamp H.J., Fehr S., Baklouti K., Chouchane I., Li Y., Rehbein M., Fuchs J. et al., 2011. American Journal of Human Genetics, 88 (3) pp. 382-390.
[DOI][WoS][Pmid][serval:BIB_15A1758D41F6]
 
Clinical and genetic investigation of a large Tunisian family with complete achromatopsia: identification of a new nonsense mutation in GNAT2 gene.
Ouechtati F., Merdassi A., Bouyacoub Y., Largueche L., Derouiche K., Ouragini H., Nouira S., Tiab L., Baklouti K., Rebai A. et al., 2011. Journal of Human Genetics, 56 (1) pp. 22-28. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_0439125ACF04]
 
Evaluation of matrix-assisted laser desorption ionization-time of flight mass spectrometry for rapid identification of Beta-hemolytic streptococci.
Cherkaoui A., Emonet S., Fernandez J., Schorderet D., Schrenzel J., 2011. Journal of Clinical Microbiology, 49 (8) pp. 3004-3005. Peer-reviewed.
[DOI][Pmid][serval:BIB_35A3C4FB53E8]
 
Exploration of the visual system: Part 1: Dissection of the mouse eye for RNA, protein, and histological analyses
Escher P., Schorderet D.F., 2011. Current Protocols in Mouse Biology, 1 pp. 445‐462. Peer-reviewed.
[DOI][serval:BIB_F7972540F109]
 
Insertion zonulaire antérieure longue dans la dégénérescence rétinienne et maculaire tardive due au gène C1QTNF5
Tran H., Vaclavik V., Favre I., Schorderet D., Munier F., 2011., Société Suisse d'Ophtalmologie pp. S84 dans Ophta.
[serval:BIB_EF3AE4D4E6CF]
 
Le syndrome d'anophtalmie de Waardenburg : une étude clinique
Abouzeid H., Youssef M., Marzouk I., El Shakankiry N., Bayoumy N., Munier F., Schorderet D., 2011., Société Suisse d'Ophtalmologie pp. S78 dans Ophta.
[serval:BIB_42F3102D8CB3]
 
Modern cataract surgery for radiation-induced cataracts in retinoblastoma.
Osman I.M., Abouzeid H., Balmer A., Gaillard M.C., Othenin-Girard P., Pica A., Moeckli R., Schorderet D.F., Munier F.L., 2011. British Journal of Ophthalmology, 95 (2) pp. 227-230. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_43170E2B6D72]
 
Mutations in the SPARC-Related Modular Calcium-Binding Protein 1 Gene, SMOC1, Cause Waardenburg Anophthalmia Syndrome.
Abouzeid H., Boisset G., Favez T., Youssef M., Marzouk I., Shakankiry N., Bayoumi N., Descombes P., Agosti C., Munier F.L. et al., 2011. American Journal of Human Genetics, 88 (1) pp. 92-98. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_3383BA446011]
 
Novel Cone Transducin Alpha Subunit Mutation In Tunisian Patients And Genotype-phenotype Correlation In Complete Achromatopsia
Ouechtati F., Merdassi A., Bouyacoub Y., Largueche L., Tiab L., Schorderet D.F., Munier F.L., Zografos L., Abdelhak S., El Matri L., 2011., Association for Research in Vision and Ophthalmology dans ARVO E-Abstract 2376/D639. Peer-reviewed.
[serval:BIB_BA732FA634F3]
Nuclear receptor Rev-erb alpha (Nr1d1) functions in concert with Nr2e3 to regulate transcriptional networks in the retina.
Mollema N.J., Yuan Y., Jelcick A.S., Sachs A.J., von Alpen D., Schorderet D., Escher P., Haider N.B., 2011. Plos One, 6 (3) pp. e17494. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_042820AEE22B]
 
Phenotype in Two Consanguineous Tunisian Families With non Syndromic Autosomic Recessive Retinitis Pigmentosa Caused by an USH2A Mutation
Chebil A., Largueche L., Kort F., Bouraoui R., Derouiche K., Favre I., Bajrami H., Munier F.L., Schorderet D.F., El Matri L., 2011., Association for Research in Vision and Ophthalmology dans ARVO E-Abstract 2395/D658. Peer-reviewed.
[serval:BIB_322E94540650]
 
Phenotype of two Consanguineous Autosomic Recessive Retinitis Pigmentosa Families Caused by PDE6A and PDE6B Mutations
Largueche L., Baklouti K., Merdassi A., Chouchane I., Bouladi M., Favre I., Bajrami H., Schorderet D.F., Munier F.L., El Matri L., 2011., Association for Research in Vision and Ophthalmology dans ARVO E-Abstract 2372/D635. Peer-reviewed.
[serval:BIB_40277507C1B3]
 
Retinal Dystrophy In The Oculo-auricular Syndrome Due to HMX1 Mutation.
Vaclavik V., Schorderet D.F., Borruat F.X., Munier F.L., 2011. Ophthalmic Genetics, 32 (2) pp. 114-117. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_72066EAE2235]
2010
 
Essential role for Pbx1 in corneal morphogenesis.
Murphy M.J., Polok B.K., Schorderet D.F., Cleary M.L., 2010/02. Investigative ophthalmology & visual science, 51 (2) pp. 795-803. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_49F8C7A02F7B]
A male with unilateral microphthalmia reveals a role for TMX3 in eye development.
Chao R., Nevin L., Agarwal P., Riemer J., Bai X., Delaney A., Akana M., JimenezLopez N., Bardakjian T., Schneider A. et al., 2010. Plos One, 5 (5) pp. e10565. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_41E9F009D72C]
 
A Novel Homozygous RPE65 Mutation in Leber Congenital Amaurosis Associated With Cone-Rod Dystrophy
Abouzeid H., Othman I.S., Sabry S., Favre I., Herkenne C., Schorderet D.F., Munier F.L., 2010., ARVO E-Abstract 3083/A278 dans Investigative Ophthalmology and Visual Science. Peer-reviewed.
[serval:BIB_AAEF312C6CE6]
 
Alterations of the 5'untranslated region of SLC16A12 lead to age-related cataract.
Zuercher J., Neidhardt J., Magyar I., Labs S., Moore A.T., Tanner F.C., Waseem N., Schorderet D.F., Munier F.L., Bhattacharya S. et al., 2010. Investigative Ophthalmology and Visual Science, 51 (7) pp. 3354-3361. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_C182FF6786B9]
 
Anomalie de Peters bilatérale et glaucome congénital
Tschuor P., Kaeser P., Cachat F., Schorderet D., Mermoud A., Sharkawi E., Munier F., 2010., Société Suisse d'Ophtalmologie pp. S108 dans Ophta.
[serval:BIB_59EFB153463B]
 
Cloudy corneas at birth: a case of bilateral Peters anomaly
Rezbach P., Kaiser P., Tschuor P., Addor M.C., Schorderet D., Cachat F., Munier F., 2010. pp. 16S dans Joint Annual Meeting of the Swiss Society for Pediatrics and the Swiss Society of Pediatric Pneumology, Swiss Medical Weekly.
[WoS][serval:BIB_F3A7BF165F23]
 
Novel Homozygous Rax Gene Mutation in Patients With Bilateral Anophthalmia
Schorderet D.F., Youssef M.A., Bayoumi N., ElShakankiri N., Marzouk E., Hauser P., Favez T., Munier F.L., Abouzeid H., 2010., ARVO E-Abstract 704/D807 dans Investigative Ophthalmology and Visual Science. Peer-reviewed.
[serval:BIB_7A42E5470A9F]
 
Point Mutations in the Monocarboxylate Transporter SLC16A12 Lead to Juvenile and Age-Related Cataract
Kloeckener-Gruissem B, Zuercher J., Neidhardt J., Magyar I., Moore A.T., Bhattacharya S., Heon E., Munier F., Schorderet D.F., Berger W., 2010., ARVO-Abstract 4773 dans Investigative Ophthalmology and Visual Science. Peer-reviewed.
[serval:BIB_56AEC7ECC3BC]
The PROM1 mutation p.R373C causes an autosomal dominant bull's eye maculopathy associated with rod, rod-cone, and macular dystrophy.
Michaelides M., Gaillard M.C., Escher P., Tiab L., Bedell M., Borruat F.X., Barthelmes D., Carmona R., Zhang K., White E. et al., 2010. Investigative Ophthalmology and Visual Science, 51 (9) pp. 4771-4780. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_8CA3332522F1]
 
Transcriptional Activation and Receptor Dimerization is Affected by Mutations in the NR2E3 Ligand-Binding Domain
Escher P., Von Alpen D., Voirol N., Favez T., Roduit R., Schorderet D., 2010., ARVO E-Abstrat 4077/A504 dans Investigative Ophthalmology and Visual Science. Peer-reviewed.
[serval:BIB_203A69696733]
Variable phenotypic expressivity in a Swiss family with autosomal dominant retinitis pigmentosa due to a T494M mutation in the PRPF3 gene.
Vaclavik V., Gaillard M.C., Tiab L., Schorderet D.F., Munier F.L., 2010. Molecular Vision, 16 pp. 467-475. Peer-reviewed.
[URN][WoS][Pmid][serval:BIB_7E8675283512]
2009
 
TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness.
Audo I., Kohl S., Leroy B.P., Munier F.L., Guillonneau X., Mohand-Saïd S., Bujakowska K., Nandrot E.F., Lorenz B., Preising M. et al., 2009/11. American journal of human genetics, 85 (5) pp. 720-729. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_14EA38AF16CB]
 
A corneal dystrophy associated with transforming growth factor beta-induced Gly623Asp mutation an amyloidogenic phenotype.
Auw-Haedrich C., Agostini H., Clausen I., Reinhard T., Eberwein P., Schorderet D.F., Gruenauer-Kloevekorn C., 2009. Ophthalmology, 116 (1) pp. 46-51. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_0ED2173ADBEA]
 
A new locus for congenital cataract, microcornea, microphthalmia, and atypical iris coloboma maps to chromosome 2.
Abouzeid H., Meire F.M., Osman I., ElShakankiri N., Bolay S., Munier F.L., Schorderet D.F., 2009/01. Ophthalmology, 116 (1) pp. 154-162.e1. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_D184F2ED58EE]
 
Bax-induced apoptosis in Leber's congenital amaurosis : a dual role in rod and cone degeneration
Cottet S., Métrailler S., Hamann S., Schorderet D.F., 2009., ARVO E-Abstract 4462 dans Investigative Ophthalmology and Visual Science. Peer-reviewed.
[serval:BIB_9EAA88DB02B7]
Bax-induced apoptosis in Leber's congenital amaurosis: a dual role in rod and cone degeneration.
Hamann S., Schorderet D.F., Cottet S., 2009. PloS one, 4 (8) pp. e6616. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_DDCFA2EC6375]
 
Functional analysis of disease-causing NR2E3 mutations
Escher P., Voirol N., Favez T., Roduit R., Schorderet D.F., 2009., ARVO E-Abstract 2296 dans Investigative Ophthalmology and Visual Science. Peer-reviewed.
[serval:BIB_53B4AD4865BD]
 
Genotyping microarray for CSNB-associated genes.
Zeitz C., Labs S., Lorenz B., Forster U., Uksti J., Kroes H.Y., De Baere E., Leroy B.P., Cremers F.P., Wittmer M. et al., 2009. Investigative Ophthalmology and Visual Science, 50 (12) pp. 5919-5926. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_CF23ADA2AD8A]
Germline mutations in retinoma patients: relevance to low-penetrance and low-expressivity molecular basis.
Abouzeid H., Schorderet D.F., Balmer A., Munier F.L., 2009. Molecular Vision, 15 pp. 771-777.
[URN][WoS][Pmid][serval:BIB_2FAE5A82FC9F]
 
Mechanisms of apoptosis in retinitis pigmentosa.
Cottet S., Schorderet D.F., 2009. Current molecular medicine, 9 (3) pp. 375-83. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_940CD165EADC]
 
Molecular classification of corneal dystrophies
Munier F.L., Schorderet D.F., 2009. pp. 44-61 dans Mohan R. (eds.) Cornea dystrophies & collagen crosslinking of cornea, All India Ophthalmological Society AIOS.
[serval:BIB_7EE3FF4D9F2D]
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 F.L., Thilo B. et al., 2009. American journal of human genetics, 84 (2) pp. 259-65. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_34261EDA46B0]
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 C.C., Hayashi M., Zernant J. et al., 2009. Human Mutation, 30 (3) pp. 342-351. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_07CD9A3E0C0E]
Mutations in the DNA-binding domain of NR2E3 affect in vivo dimerization and interaction with CRX.
Roduit R., Escher P., Schorderet D.F., 2009. PloS one, 4 (10) pp. e7379. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_B57E2853EAE3]
 
NR2E3 mutations in enhanced S-cone sensitivity syndrome (ESCS), Goldmann-Favre syndrome (GFS), clumped pigmentary retinal degeneration (CPRD), and retinitis pigmentosa (RP).
Schorderet D.F., Escher P., 2009. Human Mutation, 30 (11) pp. 1475-1485. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_02CECDE0715B]
Ophtalmologie. Thérapie génique des rétinopathies héréditaires: premiers résultats [Gene therapy for hereditary eye diseases: where are we?]
Viet Tran H., Schorderet D.F., Kostic C., Munier F.L., Arsenijevic Y., 2009. Revue Médicale Suisse, 5 (186) pp. 118-123.
[URN][Pmid][serval:BIB_12D02EB80388]
PAX6 aniridia and interhemispheric brain anomalies.
Abouzeid Hana, Youssef Mohamed A., El Shakankiri Nihal, Hauser Philippe, Munier Francis L., Schorderet Daniel F., 2009. Molecular Vision, 15 (222-224) pp. 2074-2083.
[URN][WoS][Pmid][serval:BIB_3D35B4DF0294]
 
PAX6 mutations in Egyptian families with aniridia
Munier F.L., Abouzeid H., Youssef M.A., ElShakankiri N., Hauser P., Schorderet D.F., 2009., ARVO E-Abstract 4109 dans Investigative ophthalmology and visual science. Peer-reviewed.
[serval:BIB_95992BD599EC]
Retinal ischemia-induced apoptosis is associated with alteration in Bax and Bcl-x(L) expression rather than modifications in Bak and Bcl-2.
Produit-Zengaffinen N., Pournaras C.J., Schorderet D.F., 2009. Molecular vision, 15 pp. 2101-10. Peer-reviewed.
[URN][WoS][Pmid][serval:BIB_672B4EE0B4D9]
 
Rpe65 microarrays, from genes to phosphorylated proteins
Bolay S., Roduit R., Cottet S., Schorderet D.F., 2009., ARVO E-Abstract 1930 dans Investigative Ophthalmology and Visual Science. Peer-reviewed.
[serval:BIB_9A4A70496D76]
 
TGFBI (BIGH3) gene mutations in German families: two novel mutations associated with unique clinical and histopathological findings.
Gruenauer-Kloevekorn C., Clausen I., Weidle E., Wolter-Roessler M., Tost F., Völcker H.E., Schulze D.P., Heinritz W., Reinhard T., Froster U. et al., 2009. British journal of ophthalmology, 93 (7) pp. 932-7. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_234ECB2DAECE]
 
The DNA-binding domain (DBD) is essential for NR2E3 dimerization and interaction with Crx
Roduit R., Escher P., Emery M., Voirol N., Favez T., Schorderet D.F., 2009., ARVO E-Abstract 5459 dans Investigative ophthalmology and visual science. Peer-reviewed.
[serval:BIB_DA7E20779EE6]
 
The metal ion binding protein Cnnm4 is mutated in rod-cone dystrophy/amelogenesis imperfecta syndrome
Schorderet D.F: , Polok B., Escher P., Favez T., Voirol N., Bolay S., Ambresin A., Hamel C., Mégarbane A., Munier F.L., 2009., ARVO E-Abstract 2324 dans Investigative ophthalmology and visual science. Peer-reviewed.
[serval:BIB_93D30EAB3AFE]
 
Unilateral macular oedema in Zermatt and Stargardt macular dystrophies.
Abouzeid H., Wolfensberger T.J., Schorderet D.F., Munier F.L., 2009. British journal of ophthalmology, 93 (10) pp. 1376-7, 1407-8. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_02FAE9A84D6E]
 
Variable phenotypic expressivity in a Swiss family with autosomal dominant retinitis pigmentosa due to mutation T494m in the Prpf3 gene
Vaclavik V., Gaillard M., Tiab L., Favre I., Schorderet D.F., Munier F.L., 2009., ARVO E-Abstract 4132 dans Investigative ophthalmology and visual science. Peer-reviewed.
[serval:BIB_17604E778B3D]
2008
 
A novel dominant mutation of the Nav1.4 alpha-subunit domain I leading to sodium channel myotonia.
Petitprez S., Tiab L., Chen L., Kappeler L., Rösler K.M., Schorderet D., Abriel H., Burgunder J.M., 2008. Neurology, 71 (21) pp. 1669-1675.
[DOI][WoS][Pmid][serval:BIB_8A472708BF0F]
 
Anomalie du développement de l'oeil et de l'oreille due à une mutation dans le gène NKX5-3/HMX1. Epilogue d'une histoire commencée il y a plus de 60 ans
Schorderet D., Munier F., 2008. Ophta 4 pp. 273-274. Peer-reviewed.
[serval:BIB_F0FED5302147]
 
Characterization of pip5k3 fleck corneal dystrophy-linked gene in zebrafish.
Boisset G., Polok B.K., Schorderet D.F., 2008. Gene Expression Patterns : GEP, 8 (6) pp. 404-410. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_103BDC2618CC]
 
Classification of corneal dystrophies on a molecular genetic basis
Munier F.L., Schorderet D.F., 2008. pp. 83-100 dans Reinhard T., Larkin F. (eds.) Cornea and external eye disease, Springer.
[serval:BIB_8080228C9FDC]
 
Deposits of transforming growth factor-beta-induced protein in granular corneal dystrophy type II after LASIK.
Kim T.I., Roh M.I., Grossniklaus H.E., Kang S.J., Hamilton S.M., Schorderet D.F., Lee W.B., Kim E.K., 2008. Cornea, 27 (1) pp. 28-32. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_71B327CAB652]
Differential neuroglycan C expression during retinal degeneration in Rpe65-/- mice.
Escher P., Cottet S., Aono S., Oohira A., Schorderet D.F., 2008. Molecular vision, 14 pp. 2126-35. Peer-reviewed.
[URN][WoS][Pmid][serval:BIB_D325717CF8A4]
 
Genotype-phenotype correlation of age-related macular degeneration: influence of complement factor H polymorphism.
Droz I., Mantel I., Ambresin A., Faouzi M., Schorderet D.F., Munier F.L., 2008. British Journal of Ophthalmology, 92 (4) pp. 513-517. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_BF4F2808F5B2]
 
Gènes de différentiation vasculaire
Schorderet D.F., 2008. pp. 15-19 dans Pournaras C.J. (eds.) Pathologies vasculaires oculaires, Masson.
[serval:BIB_0783EF1F8A86]
 
Génétique et pathologie vasculaire oculaire
Escher P., Schorderet D.F., 2008. pp. 219-228 dans Pournaras C.J. (eds.) Pathologies vasculaires oculaires, Masson.
[serval:BIB_F7A99FB6905E]
 
Identification of the minimal promoter region of the mouse NKX5-3, a transcription factor implicated in eye development.
Nichini O., Schorderet D.F., 2008. Gene, 411 (1-2) pp. 10-8. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_E3711EF52364]
 
Ischémies et atteintes neuronales - apoptose
Roduit R., Schorderet D., 2008. pp. 184-194 dans Pournaras C.J. (eds.) Pathologies vasculaires oculaires, Masson.
[serval:BIB_2674B92A0A84]
MAP kinase pathways in UV-induced apoptosis of retinal pigment epithelium ARPE19 cells.
Roduit R., Schorderet D.F., 2008. Apoptosis, 13 (3) pp. 343-353. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_1FF6934DDA79]
 
Modulation de l'apoptose à l'aide de peptides intracellulaires
Allaman-Pillet N., Roduit R., Produit-Zengaffinen N., Schorderet D.F., 2008. pp. 793-796 dans Pournaras C.J. (eds.) Pathologies vasculaires oculaires, Masson.
[serval:BIB_7237C8F9527B]
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 K.A., Li Y., Kaminoh Y. et al., 2008. Journal of Clinical Investigation, 118 (8) pp. 2908-29016. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_790E836A2CAF]
 
Mutation in the human homeobox gene NKX5-3 causes an oculo-auricular syndrome.
Schorderet D.F., Nichini O., Boisset G., Polok B., Tiab L., Mayeur H., Raji B., de la Houssaye G., Abitbol M.M., Munier F.L., 2008. American Journal of Human Genetics, 82 (5) pp. 1178-1184. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_DDEE744E4923]
Overexpression of a mutant form of TGFBI/BIGH3 induces retinal degeneration in transgenic mice.
Bustamante M., Tasinato A., Maurer F., Elkochairi I., Lepore M.G., Arsenijevic Y., Pedrazzini T., Munier F.L., Schorderet D.F., 2008. Molecular Vision, 14 pp. 1129-1137. Peer-reviewed.
[URN][WoS][Pmid][serval:BIB_7F64DFC7EE27]
 
Prevalence of subfoveal nodules in Coat's disease
Tran H.V., Stathopoulos C., Balmer A., Abouzeid H., Zografos L., Schorderet D.F., Munier F.L., 2008., ARVO E-Abstract 2130 dans Investigative ophthalmology and visual science. Peer-reviewed.
[serval:BIB_CD3015085C1F]
 
Retinomas : a genotype-phenotype correlation : abstract E-3112
Abouzeid H., Balmer A., Schorderet D., Munier F.L., 2008. dans ARVO 2008 Annual Meeting, Eyes on innovation, Investigative Ophthalmology and Visual Science. Peer-reviewed.
[serval:BIB_7FD1017A08AC]
 
Ten years follow-up after deep sclerectomy with collagen implant.
Bissig A., Rivier D., Zaninetti M., Shaarawy T., Mermoud A., Roy S., 2008. Journal of Glaucoma, 17 (8) pp. 680-686.
[DOI][WoS][Pmid][serval:BIB_9F0671440220]
 
Triggering of Bcl-2-related pathway is associated with apoptosis of photoreceptors in Rpe65-/- mouse model of Leber's congenital amaurosis.
Cottet S., Schorderet D.F., 2008. Apoptosis : an international journal on programmed cell death, 13 (3) pp. 329-42. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_E678E85D35C2]
2007
 
Role of MAP kinase pathways in UV-induced retinal pigment epithelium apoptosis
Roduit R., Emery M., Despond A., Schorderet D.F., 2007/11., Neurosciences, Changins 11/07 dans Role of MAP kinase pathways in UV-induced retinal pigment epithelium apoptosis.
[serval:BIB_4A7FFCAFF46B]
 
Conjunctivitis as a sign of PFAPA syndrome
Kolokotronis A., Markopoulos A., Voutas S., Mataftsi A., Ikonomidis P., Antoniades D., Schorderet D. F., 2007/08. Ophthalmology, 114 (8) p. 1584.
[DOI][WoS][Pmid][serval:BIB_790C3B8F7997]
 
De novo mutation in the BIGH3/TGFB1 gene causing granular corneal dystrophy
Hilton E. N., Black G. C., Manson F. D., Schorderet D. F., Munier F. L., 2007/08. British Journal of Ophthalmology, 91 (8) pp. 1083-4.
[DOI][WoS][Pmid][serval:BIB_EE6EDE2967DF]
 
Atrophins are corepressors for NR2E3
Escher P., Roduit R., Favez T., Voirol N., Chen S., Tsai C.C., Schorderet D.F., 2007/05., ARVO Annual Meeting 2007 dans Atrophins are corepressors for NR2E3. Peer-reviewed, Investigate ophtalmology and visual science IOVS.
[serval:BIB_558F89CF88AA]
 
Novel mutations in FRMD7 in X-linked congenital nystagmus. Mutation in brief #963. Online
Schorderet D. F., Tiab L., Gaillard M. C., Lorenz B., Klainguti G., Kerrison J. B., Traboulsi E. I., Munier F. L., 2007/05. Human Mutation, 28 (5) p. 525. Peer-reviewed.
[DOI][Pmid][serval:BIB_4494122E8A70]
 
New VMD2 gene mutations identified in patients affected by Best vitelliform macular dystrophy
Marchant D., Yu K., Bigot K., Roche O., Germain A., Bonneau D., Drouin-Garraud V., Schorderet D. F., Munier F., Schmidt D. et al., 2007/03. Journal of Medical Genetics, 44 (3) pp. e70.
[DOI][WoS][Pmid][serval:BIB_FB63E6A54C7B]
 
Retinopathy in Danon disease.
Schorderet D.F., Cottet S., Lobrinus J.A., Borruat F.X., Balmer A., Munier F.L., 2007/02. Archives of ophthalmology, 125 (2) pp. 231-6. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_B168AAA88E83]
 
5'AMP-activated protein kinase alpha deficiency enhances stress-induced apoptosis in BHK and PC12 cells.
Shaw M.M., Gurr W.K., McCrimmon R.J., Schorderet D.F., Sherwin R.S., 2007. Journal of cellular and molecular medicine, 11 (2) pp. 286-298. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_CBB2EB681B2D]
 
Novel TULP1 mutation causing leber congenital amaurosis or early onset retinal degeneration.
Mataftsi A., Schorderet D.F., Chachoua L., Boussalah M., Nouri M.T., Barthelmes D., Borruat F.X., Munier F.L., 2007. Investigative Ophthalmology & Visual Science, 48 (11) pp. 5160-5167. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_AAFE612770E1]
 
Patient with Fanconi Syndrome (FS) and retinitis pigmentosa (RP) caused by a deletion and duplication of mitochondrial DNA (mtDNA).
Pitchon E.M., Cachat F., Jacquemont S., Hinard C., Borruat F.X., Schorderet D.F., Morris M.A., Munier F.L., 2007. Klinische Monatsblätter für Augenheilkunde, 224 (4) pp. 340-343. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_E34C546BB0BD]
Retinal stem cells transplanted into models of late stages of retinitis pigmentosa preferentially adopt a glial or a retinal ganglion cell fate
Canola K., Angenieux B., Tekaya M., Quiambao A., Naash M. I., Munier F. L., Schorderet D. F., Arsenijevic Y., 2007/01. Investigative Ophthalmology and Visual Science, 48 (1) pp. 446-54. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_C54F514C6124]
 
Ten novel RB1 gene mutations in patients with retinoblastoma.
Abouzeid H., Munier F.L., Thonney F., Schorderet D.F., 2007. Molecular Vision, 13 pp. 1740-1745.
[WoS][Pmid][serval:BIB_987FC166BAFE]
Three new PAX6 mutations including one causing an unusual ophthalmic phenotype associated with neurodevelopmental abnormalities
Dansault A., David G., Schwartz C., Jaliffa C., Vieira V., de la Houssaye G., Bigot K., Catin F., Tattu L., Chopin C. et al., 2007. Molecular Vision, 13 pp. 511-23.
[URN][WoS][Pmid][serval:BIB_D53EE0A856A7]
2006
 
Biological characterization of gene response in Rpe65-/- mouse model of Leber's congenital amaurosis during progression of the disease
Cottet S., Michaut L., Boisset G., Schlecht U., Gehring W., Schorderet D. F., 2006/10. FASEB Journal, 20 (12) pp. 2036-49.
[DOI][WoS][Pmid][serval:BIB_F51F4648318B]
 
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., Matyas G., Borruat F. X., Schorderet D. F., Zrenner E. et al., 2006/10. American Journal of Human Genetics, 79 (4) pp. 657-67.
[DOI][WoS][Pmid][serval:BIB_F7BF23FFFFA7]
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 D.F., Kawasaki A., Seeliger M.W., Wenzel A., Arsenijevic Y., Borruat F.X., Munier F.L., 2006/09. Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv für klinische und experimentelle Ophthalmologie, 244 (9) pp. 1104-12. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_A727C9F7322A]
 
A subset of patients with epithelial basement membrane corneal dystrophy have mutations in TGFBI/BIGH3
Boutboul S., Black G. C., Moore J. E., Sinton J., Menasche M., Munier F. L., Laroche L., Abitbol M., Schorderet D. F., 2006/06. Human Mutation, 27 (6) pp. 553-7.
[DOI][WoS][Pmid][serval:BIB_30CC8488E535]
 
Keratoepithelin in secondary corneal amyloidosis
Suesskind D., Auw-Haedrich C., Schorderet D. F., Munier F. L., Loeffler K. U., 2006/06. Graefe's Archive for Clinical and Experimental Ophthalmology, 244 (6) pp. 725-31.
[DOI][WoS][Pmid][serval:BIB_C84B8462DDC0]
 
Evanescent white linear flecks and posterior microphthalmos: new features of a recently established disease
Tran H. V., Borruat F. X., Reymond-Gruber S., Schorderet D., Munier F., 2006/05. Klinische Monatsblatter fur Augenheilkunde, 223 (5) pp. 397-9.
[DOI][WoS][Pmid][serval:BIB_299763CD25BB]
 
Keratoepithelin suppresses the progression of experimental human neuroblastomas
Becker J., Erdlenbruch B., Noskova I., Schramm A., Aumailley M., Schorderet D. F., Schweigerer L., 2006/05. Cancer Research, 66 (10) pp. 5314-21.
[DOI][WoS][Pmid][serval:BIB_8756BC3E52DE]
 
Epidermal growth factor is a neuronal differentiation factor for retinal stem cells in vitro
Angenieux B., Schorderet D. F., Arsenijevic Y., 2006/03. Stem Cells, 24 (3) pp. 696-706.
[DOI][WoS][Pmid][serval:BIB_CE637A4CBEE4]
 
BMI1 loss delays photoreceptor degeneration in Rd1 mice. Bmi1 loss and neuroprotection in Rd1 mice
Zencak D., Crippa S. V., Tekaya M., Tanger E., Schorderet D. E., Munier F. L., van Lohuizen M., Arsenijevic Y., 2006. Advances in Experimental Medicine and Biology, 572 pp. 209-15.
[WoS][Pmid][serval:BIB_D83A99C388E2]
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 F.L., Schorderet D.F., Levin A.V. et al., 2006. BMC Medical Genetics, 7 p. 41. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_C24D1B0A8EC3]
 
Identification of four new PITX2 gene mutations in patients with Axenfeld-Rieger syndrome
Vieira V., David G., Roche O., de la Houssaye G., Boutboul S., Arbogast L., Kobetz A., Orssaud C., Camand O., Schorderet D. F. et al., 2006. Molecular Vision, 12 pp. 1448-60.
[WoS][Pmid][serval:BIB_37D97C9A5F5D]
 
Lentiviral vectors containing a retinal pigment epithelium specific promoter for leber congenital amaurosis gene therapy. Lentiviral gene therapy for LCA
Bemelmans A. P., Kostic C., Hornfeld D., Jaquet M., Crippa S. V., Hauswirth W. W., Lem J., Wang Z., Schorderet D. E., Munier F. L. et al., 2006. Advances in Experimental Medicine and Biology, 572 pp. 247-53.
[WoS][Pmid][serval:BIB_020E63756414]
 
Microarray analysis reveals retinal stem cell characteristics of the adult human eye. For contributed volumes
Angenieux B., Michaut L., Schorderet D. E., Munier F. L., Gehring W., Arsenijevic Y., 2006. Advances in Experimental Medicine and Biology, 572 pp. 377-80.
[WoS][Pmid][serval:BIB_C13494977A99]
 
Systemic investigation of keratoepithelin deposits in TGFBI/BIGH3-related corneal dystrophy
El Kochairi I., Letovanec I., Uffer S., Munier F. L., Chaubert P., Schorderet D. F., 2006. Molecular Vision, 12 pp. 461-6.
[WoS][Pmid][serval:BIB_4C87C4E519EC]
2005
 
D-TAT transporter as an ocular peptide delivery system
Schorderet D. F., Manzi V., Canola K., Bonny C., Arsenijevic Y., Munier F. L., Maurer F., 2005/12. Clinical and Experimental Ophthalmology, 33 (6) pp. 628-35.
[DOI][WoS][Pmid][serval:BIB_6BF22C0030B2]
 
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 F. L., Schorderet D. F., 2005/12. Ophthalmic Genetics, 26 (4) pp. 169-73.
[DOI][Pmid][serval:BIB_EDE140E90FF9]
 
Mutations in PIP5K3 are associated with Francois-Neetens mouchetee fleck corneal dystrophy
Li S., Tiab L., Jiao X., Munier F. L., Zografos L., Frueh B. E., Sergeev Y., Smith J., Rubin B., Meallet M. A. et al., 2005/07. American Journal of Human Genetics, 77 (1) pp. 54-63.
[DOI][WoS][Pmid][serval:BIB_301D0790B5AB]
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 F. L., Schorderet D. F., van Lohuizen M. et al., 2005/06. Journal of Neuroscience, 25 (24) pp. 5774-83.
[URN][DOI][WoS][Pmid][serval:BIB_2007EBF82C8C]
 
Hereditary lattice corneal dystrophy is associated with corneal amyloid deposits enclosing C-terminal fragments of keratoepithelin
Stix B., Leber M., Bingemer P., Gross C., Ruschoff J., Fandrich M., Schorderet D. F., Vorwerk C. K., Zacharias M., Roessner A. et al., 2005/04. Investigative Ophthalmology and Visual Science, 46 (4) pp. 1133-9.
[DOI][WoS][Pmid][serval:BIB_A4533DEABE1A]
 
Morphological, clinical and genetic aspects in a family with a novel LAMP-2 gene mutation (Danon disease)
Lobrinus J. A., Schorderet D. F., Payot M., Jeanrenaud X., Bottani A., Superti-Furga A., Schlaepfer J., Fromer M., Jeannet P. Y., 2005/04. Neuromuscular Disorders, 15 (4) pp. 293-8.
[DOI][WoS][Pmid][serval:BIB_07972D894995]
 
Tomographie a coherence optique dans la Malattia leventinese [Optical coherence tomography in Malattia Leventinese].
Gaillard M.C., Wolfensberger T.J., Uffer S., Mantel I., Pournaras J.A., Schorderet D.F., Munier F.L., 2005/03. Klinische Monatsblätter für Augenheilkunde, 222 (3) pp. 180-185.
[DOI][WoS][Pmid][serval:BIB_3836D25E95D6]
 
Association Down syndrome-retinoblastoma: a new observation.
Satgè D., Schorderet D.F., Balmer A., Beck-Popovic M., Addor M.C., Beckmann J.S., Munier F.L., 2005. Ophthalmic Genetics, 26 (3) pp. 151-152. Peer-reviewed.
[DOI][Pmid][serval:BIB_32E6AF1C8EA9]
 
Clinical and immunopathological corneal phenotype in homozygotes for the BIGH3 R124H mutation
Diaper C. J., Schorderet D. F., Chaubert P., Munier F. L., 2005/01. Eye, 19 (1) pp. 92-6.
[DOI][WoS][Pmid][serval:BIB_840CDE35692D]
 
Lentiviral vector-mediated gene transfer in adult mouse photoreceptors is impaired by the presence of a physical barrier.
Grüter O., Kostic C., Crippa S.V., Perez M.T., Zografos L., Schorderet D.F., Munier F.L., Arsenijevic Y., 2005. Gene therapy, 12 (11) pp. 942-947. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_FBF2D4888723]
2004
 
Mutation analysis of KIF21A in congenital fibrosis of the extraocular muscles (CFEOM) patients
Tiab L., d'Alleves Manzi V., Borruat F. X., Munier F., Schorderet D., 2004/12. Ophthalmic Genetics, 25 (4) pp. 241-6.
[DOI][Pmid][serval:BIB_E33C5FD3A271]
 
Circadian regulation of islet genes involved in insulin production and secretion
Allaman-Pillet N., Roduit R., Oberson A., Abdelli S., Ruiz J., Beckmann J. S., Schorderet D. F., Bonny C., 2004/10. Molecular and Cellular Endocrinology, 226 (1-2) pp. 59-66. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_0132435CECDD]
 
Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2
Li A., Jiao X., Munier F. L., Schorderet D. F., Yao W., Iwata F., Hayakawa M., Kanai A., Shy Chen M., Alan Lewis R. et al., 2004/05. American Journal of Human Genetics, 74 (5) pp. 817-26.
[DOI][WoS][Pmid][serval:BIB_A485EF5B7AAC]
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