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Macular Dystrophy with Bilateral Macular Telangiectasia Related to the CYP2U1 Pathogenic Variant Assessed with Multimodal Imaging Including OCT-Angiography.

Genes

El Matri K, Falfoul Y, Habibi I, Chebil A, Schorderet D, El Matri L.
PMID: 34828401
Genes (Basel). 2021 Nov 15;12(11). doi: 10.3390/genes12111795.

PURPOSE: We report the case of a neurologically asymptomatic young boy presenting with an unusual phenotype of CASE PRESENTATION: A twelve-year-old boy from a non-consanguineous family complained of bilateral progressive visual loss and photophobia. The best-corrected visual acuity was...

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El Matri K, Falfoul Y, Habibi I, et al. Macular Dystrophy with Bilateral Macular Telangiectasia Related to the CYP2U1 Pathogenic Variant Assessed with Multimodal Imaging Including OCT-Angiography. Genes (Basel). 2021;12(11)doi: 10.3390/genes12111795.
El Matri, K., Falfoul, Y., Habibi, I., Chebil, A., Schorderet, D., & El Matri, L. (2021). Macular Dystrophy with Bilateral Macular Telangiectasia Related to the CYP2U1 Pathogenic Variant Assessed with Multimodal Imaging Including OCT-Angiography. Genes, 12(11), . https://doi.org/10.3390/genes12111795
El Matri, Khaled, et al. "Macular Dystrophy with Bilateral Macular Telangiectasia Related to the CYP2U1 Pathogenic Variant Assessed with Multimodal Imaging Including OCT-Angiography." Genes vol. 12,11 (2021). doi: https://doi.org/10.3390/genes12111795
El Matri K, Falfoul Y, Habibi I, Chebil A, Schorderet D, El Matri L. Macular Dystrophy with Bilateral Macular Telangiectasia Related to the CYP2U1 Pathogenic Variant Assessed with Multimodal Imaging Including OCT-Angiography. Genes (Basel). 2021 Nov 15;12(11). doi: 10.3390/genes12111795. PMID: 34828401; PMCID: PMC8618989.
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Crystals deposits in the anterior and posterior lens cortex in Bietti corneo-retinal dystrophy.

Ophthalmic genetics

Louati Y, Vaclavik V, Moulin A, Schorderet D, Munier FL, Viet Tran H.
PMID: 34310258
Ophthalmic Genet. 2021 Dec;42(6):773-779. doi: 10.1080/13816810.2021.1952620. Epub 2021 Jul 26.

BACKGROUND: Whereas crystals deposit in the retina, the cornea and limbus in Bietty corneo-retinal dystrophy (BCD) is now well established and documented, only two published cases report their findings in the lens and no cases deep in the lens...

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Louati Y, Vaclavik V, Moulin A, et al. Crystals deposits in the anterior and posterior lens cortex in Bietti corneo-retinal dystrophy. Ophthalmic Genet. 2021;42(6):773-779doi: 10.1080/13816810.2021.1952620.
Louati, Y., Vaclavik, V., Moulin, A., Schorderet, D., Munier, F. L., & Viet Tran, H. (2021). Crystals deposits in the anterior and posterior lens cortex in Bietti corneo-retinal dystrophy. Ophthalmic genetics, 42(6), 773-779. https://doi.org/10.1080/13816810.2021.1952620
Louati, Youssr, et al. "Crystals deposits in the anterior and posterior lens cortex in Bietti corneo-retinal dystrophy." Ophthalmic genetics vol. 42,6 (2021): 773-779. doi: https://doi.org/10.1080/13816810.2021.1952620
Louati Y, Vaclavik V, Moulin A, Schorderet D, Munier FL, Viet Tran H. Crystals deposits in the anterior and posterior lens cortex in Bietti corneo-retinal dystrophy. Ophthalmic Genet. 2021 Dec;42(6):773-779. doi: 10.1080/13816810.2021.1952620. Epub 2021 Jul 26. PMID: 34310258.
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Correction: Habibi I. et al. "Clinical and Genetic Findings of Autosomal Recessive Bestrophinopathy (ARB)" Genes, 2019, .

Genes

Habibi I, Falfoul Y, Todorova MG, Wyrsch S, Vaclavik V, Helfenstein M, Turki A, El Matri K, El Matri L, Schorderet DF.
PMID: 32375275
Genes (Basel). 2020 May 03;11(5). doi: 10.3390/genes11050503.

The authors wish to make a correction to the published version of their paper [...].

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Habibi I, Falfoul Y, Todorova MG, et al. Correction: Habibi I. et al. "Clinical and Genetic Findings of Autosomal Recessive Bestrophinopathy (ARB)" Genes, 2019, . Genes (Basel). 2020;11(5)doi: 10.3390/genes11050503.
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). Correction: Habibi I. et al. "Clinical and Genetic Findings of Autosomal Recessive Bestrophinopathy (ARB)" Genes, 2019, . Genes, 11(5), . https://doi.org/10.3390/genes11050503
Habibi, Imen, et al. "Correction: Habibi I. et al. "Clinical and Genetic Findings of Autosomal Recessive Bestrophinopathy (ARB)" Genes, 2019, ." Genes vol. 11,5 (2020). doi: https://doi.org/10.3390/genes11050503
Habibi I, Falfoul Y, Todorova MG, Wyrsch S, Vaclavik V, Helfenstein M, Turki A, El Matri K, El Matri L, Schorderet DF. Correction: Habibi I. et al. "Clinical and Genetic Findings of Autosomal Recessive Bestrophinopathy (ARB)" Genes, 2019, . Genes (Basel). 2020 May 03;11(5). doi: 10.3390/genes11050503. PMID: 32375275; PMCID: PMC7288654.
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Modulation of VIP-Stimulated cAMP Formation by Excitatory Amino Acids in Mouse Cerebral Cortex.

The European journal of neuroscience

Schaad NC, Schorderet M, Magistretti PJ.
PMID: 12106022
Eur J Neurosci. 1990;2(6):525-533. doi: 10.1111/j.1460-9568.1990.tb00443.x.

We have investigated the modulatory action of excitatory amino acids (EAA) on vasoactive intestinal polypeptide (VIP)-stimulated cAMP formation in mouse cerebral cortical slices. Glutamate and aspartate potentiate in a concentration-dependent manner the effect of VIP. In order to characterize...

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Schaad NC, Schorderet M, Magistretti PJ. Modulation of VIP-Stimulated cAMP Formation by Excitatory Amino Acids in Mouse Cerebral Cortex. Eur J Neurosci. 1990;2(6):525-533doi: 10.1111/j.1460-9568.1990.tb00443.x.
Schaad, N. C., Schorderet, M., & Magistretti, P. J. (1990). Modulation of VIP-Stimulated cAMP Formation by Excitatory Amino Acids in Mouse Cerebral Cortex. The European journal of neuroscience, 2(6), 525-533. https://doi.org/10.1111/j.1460-9568.1990.tb00443.x
Schaad, N. C., et al. "Modulation of VIP-Stimulated cAMP Formation by Excitatory Amino Acids in Mouse Cerebral Cortex." The European journal of neuroscience vol. 2,6 (1990): 525-533. doi: https://doi.org/10.1111/j.1460-9568.1990.tb00443.x
Schaad NC, Schorderet M, Magistretti PJ. Modulation of VIP-Stimulated cAMP Formation by Excitatory Amino Acids in Mouse Cerebral Cortex. Eur J Neurosci. 1990;2(6):525-533. doi: 10.1111/j.1460-9568.1990.tb00443.x. PMID: 12106022.
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Exploration of the Visual System: Part 2: In Vivo Analysis Methods: Virtual-Reality Optomotor System, Fundus Examination, and Fluorescent Angiography.

Current protocols in mouse biology

Marcelli F, Escher P, Schorderet DF.
PMID: 26069012
Curr Protoc Mouse Biol. 2012 Sep 01;2(3):207-18. doi: 10.1002/9780470942390.mo110177.

The mouse has emerged as an animal model for many diseases. At IRO, we have used this animal to understand the development of many eye diseases and treatment of some of them. Precise evaluation of vision is a prerequisite...

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Marcelli F, Escher P, Schorderet DF. Exploration of the Visual System: Part 2: In Vivo Analysis Methods: Virtual-Reality Optomotor System, Fundus Examination, and Fluorescent Angiography. Curr Protoc Mouse Biol. 2012;2(3):207-18doi: 10.1002/9780470942390.mo110177.
Marcelli, F., Escher, P., & Schorderet, D. F. (2012). Exploration of the Visual System: Part 2: In Vivo Analysis Methods: Virtual-Reality Optomotor System, Fundus Examination, and Fluorescent Angiography. Current protocols in mouse biology, 2(3), 207-18. https://doi.org/10.1002/9780470942390.mo110177
Marcelli, Fabienne, et al. "Exploration of the Visual System: Part 2: In Vivo Analysis Methods: Virtual-Reality Optomotor System, Fundus Examination, and Fluorescent Angiography." Current protocols in mouse biology vol. 2,3 (2012): 207-18. doi: https://doi.org/10.1002/9780470942390.mo110177
Marcelli F, Escher P, Schorderet DF. Exploration of the Visual System: Part 2: In Vivo Analysis Methods: Virtual-Reality Optomotor System, Fundus Examination, and Fluorescent Angiography. Curr Protoc Mouse Biol. 2012 Sep 01;2(3):207-18. doi: 10.1002/9780470942390.mo110177. PMID: 26069012.
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[Cycle of education for educators. An experience to live through].

Krankenpflege. Soins infirmiers

Schorderet L.
PMID: 2314028
Krankenpfl Soins Infirm. 1990 Feb;83(2):18-20.

No abstract available.

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Schorderet L. Cycle de formation de formateurs. Une expérience à vivre. [Cycle of education for educators. An experience to live through]. Krankenpfl Soins Infirm. 1990;83(2):18-20
Schorderet, L. (1990). Cycle de formation de formateurs. Une expérience à vivre. [Cycle of education for educators. An experience to live through]. Krankenpflege. Soins infirmiers, 83(2), 18-20.
Schorderet, L. "Cycle de formation de formateurs. Une expérience à vivre." [Cycle of education for educators. An experience to live through]. Krankenpflege. Soins infirmiers vol. 83,2 (1990): 18-20.
Schorderet L. Cycle de formation de formateurs. Une expérience à vivre. [Cycle of education for educators. An experience to live through]. Krankenpfl Soins Infirm. 1990 Feb;83(2):18-20. French. PMID: 2314028.
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Crystals deposits in the anterior and posterior lens cortex in Bietti corneo-retinal dystrophy.

Ophthalmic genetics

Louati Y, Vaclavik V, Moulin A, Schorderet D, Munier FL, Viet Tran H.
PMID: 34310258
Ophthalmic Genet. 2021 Dec;42(6):773-779. doi: 10.1080/13816810.2021.1952620. Epub 2021 Jul 26.

BACKGROUND: Whereas crystals deposit in the retina, the cornea and limbus in Bietty corneo-retinal dystrophy (BCD) is now well established and documented, only two published cases report their findings in the lens and no cases deep in the lens...

Cite
Louati Y, Vaclavik V, Moulin A, et al. Crystals deposits in the anterior and posterior lens cortex in Bietti corneo-retinal dystrophy. Ophthalmic Genet. 2021;42(6):773-779doi: 10.1080/13816810.2021.1952620.
Louati, Y., Vaclavik, V., Moulin, A., Schorderet, D., Munier, F. L., & Viet Tran, H. (2021). Crystals deposits in the anterior and posterior lens cortex in Bietti corneo-retinal dystrophy. Ophthalmic genetics, 42(6), 773-779. https://doi.org/10.1080/13816810.2021.1952620
Louati, Youssr, et al. "Crystals deposits in the anterior and posterior lens cortex in Bietti corneo-retinal dystrophy." Ophthalmic genetics vol. 42,6 (2021): 773-779. doi: https://doi.org/10.1080/13816810.2021.1952620
Louati Y, Vaclavik V, Moulin A, Schorderet D, Munier FL, Viet Tran H. Crystals deposits in the anterior and posterior lens cortex in Bietti corneo-retinal dystrophy. Ophthalmic Genet. 2021 Dec;42(6):773-779. doi: 10.1080/13816810.2021.1952620. Epub 2021 Jul 26. PMID: 34310258.
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OCT-angiography assessing quiescent and active choroidal neovascularization in retinitis pigmentosa associated with .

European journal of ophthalmology

Falfoul Y, Matri KE, Habibi I, Halouani S, Chebil A, Schorderet D, El Matri L.
PMID: 33736480
Eur J Ophthalmol. 2021 Mar 18;11206721211004396. doi: 10.1177/11206721211004396. Epub 2021 Mar 18.

PURPOSE: To report multimodal imaging findings including optical coherence tomography angiography (OCT-A) of a patient presenting with a quiescent choroidal neovascularization (CNV) in one eye and an active CNV in the fellow eye, complicating retinitis pigmentosa (RP) linked to...

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Falfoul Y, Matri KE, Habibi I, et al. OCT-angiography assessing quiescent and active choroidal neovascularization in retinitis pigmentosa associated with . Eur J Ophthalmol. 2021;11206721211004396doi: 10.1177/11206721211004396.
Falfoul, Y., Matri, K. E., Habibi, I., Halouani, S., Chebil, A., Schorderet, D., & El Matri, L. (2021). OCT-angiography assessing quiescent and active choroidal neovascularization in retinitis pigmentosa associated with . European journal of ophthalmology, 11206721211004396. https://doi.org/10.1177/11206721211004396
Falfoul, Yousra, et al. "OCT-angiography assessing quiescent and active choroidal neovascularization in retinitis pigmentosa associated with ." European journal of ophthalmology vol. (2021): 11206721211004396. doi: https://doi.org/10.1177/11206721211004396
Falfoul Y, Matri KE, Habibi I, Halouani S, Chebil A, Schorderet D, El Matri L. OCT-angiography assessing quiescent and active choroidal neovascularization in retinitis pigmentosa associated with . Eur J Ophthalmol. 2021 Mar 18;11206721211004396. doi: 10.1177/11206721211004396. Epub 2021 Mar 18. PMID: 33736480.
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The increase in cyclic-AMP levels elicited by vasoactive intestinal peptide (VIP) in mouse cerebral cortical slices is potentiated by ergot alkaloids.

Neurochemistry international

Magistretti PJ, Hof P, Schorderet M.
PMID: 20488103
Neurochem Int. 1984;6(6):751-3. doi: 10.1016/0197-0186(84)90006-8.

We have recently observed that noradrenaline potentiates, via the activation of specific ?-receptors, the stimulatory effects of vasoactive intestinal peptide on cyclic-AMP levels. We report here that certain ergot derivatives of the ergopeptine class, such as bromocriptine, ergotamine and...

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Magistretti PJ, Hof P, Schorderet M. The increase in cyclic-AMP levels elicited by vasoactive intestinal peptide (VIP) in mouse cerebral cortical slices is potentiated by ergot alkaloids. Neurochem Int. 1984;6(6):751-3doi: 10.1016/0197-0186(84)90006-8.
Magistretti, P. J., Hof, P., & Schorderet, M. (1984). The increase in cyclic-AMP levels elicited by vasoactive intestinal peptide (VIP) in mouse cerebral cortical slices is potentiated by ergot alkaloids. Neurochemistry international, 6(6), 751-3. https://doi.org/10.1016/0197-0186(84)90006-8
Magistretti, P J, et al. "The increase in cyclic-AMP levels elicited by vasoactive intestinal peptide (VIP) in mouse cerebral cortical slices is potentiated by ergot alkaloids." Neurochemistry international vol. 6,6 (1984): 751-3. doi: https://doi.org/10.1016/0197-0186(84)90006-8
Magistretti PJ, Hof P, Schorderet M. The increase in cyclic-AMP levels elicited by vasoactive intestinal peptide (VIP) in mouse cerebral cortical slices is potentiated by ergot alkaloids. Neurochem Int. 1984;6(6):751-3. doi: 10.1016/0197-0186(84)90006-8. PMID: 20488103.
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Prostanoids and their role in cell-cell interactions in the central nervous system.

Neurochemistry international

Schaad NC, Magistretti PJ, Schorderet M.
PMID: 20504706
Neurochem Int. 1991;18(3):303-22. doi: 10.1016/0197-0186(91)90161-6.

Although the presence of prostaglandin PGF(2?) has been demonstrated in the central nervous system in the mid sixties, it has taken a rather long time to pinpoint a role of certain metabolites of arachidonic acid in the regulation of...

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Schaad NC, Magistretti PJ, Schorderet M. Prostanoids and their role in cell-cell interactions in the central nervous system. Neurochem Int. 1991;18(3):303-22doi: 10.1016/0197-0186(91)90161-6.
Schaad, N. C., Magistretti, P. J., & Schorderet, M. (1991). Prostanoids and their role in cell-cell interactions in the central nervous system. Neurochemistry international, 18(3), 303-22. https://doi.org/10.1016/0197-0186(91)90161-6
Schaad, N C, et al. "Prostanoids and their role in cell-cell interactions in the central nervous system." Neurochemistry international vol. 18,3 (1991): 303-22. doi: https://doi.org/10.1016/0197-0186(91)90161-6
Schaad NC, Magistretti PJ, Schorderet M. Prostanoids and their role in cell-cell interactions in the central nervous system. Neurochem Int. 1991;18(3):303-22. doi: 10.1016/0197-0186(91)90161-6. PMID: 20504706.
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Exploration of the Visual System: Part 1: Dissection of the Mouse Eye for RNA, Protein, and Histological Analyses.

Current protocols in mouse biology

Escher P, Schorderet DF.
PMID: 26069000
Curr Protoc Mouse Biol. 2011 Dec 01;1(4):445-62. doi: 10.1002/9780470942390.mo110129.

Due to the power of genetics, the mouse has become a widely used animal model in vision research. However, its eyeball has an axial length of only about 2 mm. The present protocol describes how to easily dissect the...

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Escher P, Schorderet DF. Exploration of the Visual System: Part 1: Dissection of the Mouse Eye for RNA, Protein, and Histological Analyses. Curr Protoc Mouse Biol. 2011;1(4):445-62doi: 10.1002/9780470942390.mo110129.
Escher, P., & Schorderet, D. F. (2011). Exploration of the Visual System: Part 1: Dissection of the Mouse Eye for RNA, Protein, and Histological Analyses. Current protocols in mouse biology, 1(4), 445-62. https://doi.org/10.1002/9780470942390.mo110129
Escher, Pascal, and Schorderet, Daniel F. "Exploration of the Visual System: Part 1: Dissection of the Mouse Eye for RNA, Protein, and Histological Analyses." Current protocols in mouse biology vol. 1,4 (2011): 445-62. doi: https://doi.org/10.1002/9780470942390.mo110129
Escher P, Schorderet DF. Exploration of the Visual System: Part 1: Dissection of the Mouse Eye for RNA, Protein, and Histological Analyses. Curr Protoc Mouse Biol. 2011 Dec 01;1(4):445-62. doi: 10.1002/9780470942390.mo110129. PMID: 26069000.
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Corrigendum: Identifying mutations in Tunisian families with retinal dystrophy.

Scientific reports

Habibi I, Chebil A, Falfoul Y, Allaman-Pillet N, Kort F, Schorderet DF, Matri LE.
PMID: 28471455
Sci Rep. 2017 May 04;7:46776. doi: 10.1038/srep46776.

No abstract available.

Cite
Habibi I, Chebil A, Falfoul Y, et al. Corrigendum: Identifying mutations in Tunisian families with retinal dystrophy. Sci Rep. 2017;7:46776doi: 10.1038/srep46776.
Habibi, I., Chebil, A., Falfoul, Y., Allaman-Pillet, N., Kort, F., Schorderet, D. F., & Matri, L. E. (2017). Corrigendum: Identifying mutations in Tunisian families with retinal dystrophy. Scientific reports, 746776. https://doi.org/10.1038/srep46776
Habibi, Imen, et al. "Corrigendum: Identifying mutations in Tunisian families with retinal dystrophy." Scientific reports vol. 7 (2017): 46776. doi: https://doi.org/10.1038/srep46776
Habibi I, Chebil A, Falfoul Y, Allaman-Pillet N, Kort F, Schorderet DF, Matri LE. Corrigendum: Identifying mutations in Tunisian families with retinal dystrophy. Sci Rep. 2017 May 04;7:46776. doi: 10.1038/srep46776. PMID: 28471455; PMCID: PMC5417156.
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Showing 1 to 12 of 24 entries