Autor: "Schorderet, DF" - OpacWWW

Skocz do pozycji: 1.

Tytuł:: CRX-linked macular dystrophy with intrafamilial variable expressivity.
Autorzy:: Romdhane K; a Jules-Gonin Eye Hospital, Department of Ophthalmology , University of Lausanne , Lausanne , Switzerland.
Vaclavik V; a Jules-Gonin Eye Hospital, Department of Ophthalmology , University of Lausanne , Lausanne , Switzerland.
Schorderet DF; a Jules-Gonin Eye Hospital, Department of Ophthalmology , University of Lausanne , Lausanne , Switzerland.; b IRO-Institute for Research in Ophthalmology , Sion , Switzerland.; c Faculty of Life Sciences , Ecole Polytechnique Fédérale de Lausanne , Lausanne , Switzerland.
Munier FL; a Jules-Gonin Eye Hospital, Department of Ophthalmology , University of Lausanne , Lausanne , Switzerland.
Viet Tran H; a Jules-Gonin Eye Hospital, Department of Ophthalmology , University of Lausanne , Lausanne , Switzerland.; Pokaż więcej
Źródło:: Ophthalmic genetics [Ophthalmic Genet] 2018 Oct; Vol. 39 (5), pp. 637-641. Date of Electronic Publication: 2018 Aug 01.
Typ publikacji:: Case Reports; Journal Article
MeSH Terms:: Codon, Nonsense*
Severity of Illness Index*
Homeodomain Proteins/*genetics
Macular Degeneration/*genetics
Macular Degeneration/*pathology
Trans-Activators/*genetics
Adult ; Female ; Heterozygote ; Humans ; Male ; Pedigree ; Prognosis ; Young Adult

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Skocz do pozycji: 2.

Tytuł:: Exome sequencing confirms ZNF408 mutations as a cause of familial retinitis pigmentosa.
Autorzy:: Habibi I; a Institute for Research in Ophthalmology (IRO) , Sion , Switzerland.; b Research Laboratory of Oculogenetic (LR14SP01), Department B of Ophthalmology , Hedi Rais Institute of Ophthalmology , Tunis , Tunisia.; c Research Laboratory of Renal Transplantation and Immunopathology (LR03SP01) , University Tunis El Manar, Immunology Laboratory , Tunis , Tunisia.; d Faculty of Life Sciences , Ecole Polytechnique Fédérale de Lausanne , Lausanne , Switzerland.
Chebil A; b Research Laboratory of Oculogenetic (LR14SP01), Department B of Ophthalmology , Hedi Rais Institute of Ophthalmology , Tunis , Tunisia.; e Faculty of Medicine , University Tunis El Manar , Tunis , Tunisia.
Kort F; b Research Laboratory of Oculogenetic (LR14SP01), Department B of Ophthalmology , Hedi Rais Institute of Ophthalmology , Tunis , Tunisia.; e Faculty of Medicine , University Tunis El Manar , Tunis , Tunisia.
Schorderet DF; a Institute for Research in Ophthalmology (IRO) , Sion , Switzerland.; d Faculty of Life Sciences , Ecole Polytechnique Fédérale de Lausanne , Lausanne , Switzerland.; f Jules-Gonin Eye Hospital, Faculty of Biology and Medicine , University of Lausanne , Lausanne , Switzerland.
El Matri L; b Research Laboratory of Oculogenetic (LR14SP01), Department B of Ophthalmology , Hedi Rais Institute of Ophthalmology , Tunis , Tunisia.; e Faculty of Medicine , University Tunis El Manar , Tunis , Tunisia.; Pokaż więcej
Źródło:: Ophthalmic genetics [Ophthalmic Genet] 2017 Sep-Oct; Vol. 38 (5), pp. 494-497. Date of Electronic Publication: 2017 Jan 17.
Typ publikacji:: Letter; Research Support, Non-U.S. Gov't
MeSH Terms:: Mutation*
DNA-Binding Proteins/*genetics
Retinitis Pigmentosa/*genetics
Transcription Factors/*genetics
Adult ; Cataract/genetics ; Consanguinity ; DNA Mutational Analysis ; Eye Diseases/genetics ; Female ; High-Throughput Nucleotide Sequencing ; Humans ; Male ; Middle Aged ; Myopia, Degenerative/genetics ; Pedigree ; Retinitis Pigmentosa/diagnosis ; Vitreous Body/pathology ; Exome Sequencing

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Skocz do pozycji: 3.

Tytuł:: Complement factor B polymorphism and the phenotype of early age-related macular degeneration.
Autorzy:: Mantel I; Department of Ophthalmology, University of Lausanne, Jules-Gonin Eye Hospital , Switzerland , and.
Ambresin A
Moetteli L
Droz I
Roduit R
Munier FL
Schorderet DF; Pokaż więcej
Źródło:: Ophthalmic genetics [Ophthalmic Genet] 2014 Mar; Vol. 35 (1), pp. 12-7. Date of Electronic Publication: 2013 Feb 01.
Typ publikacji:: Journal Article; Research Support, U.S. Gov't, Non-P.H.S.
MeSH Terms:: Polymorphism, Single Nucleotide*
Complement Factor B/*genetics
Macular Degeneration/*genetics
Retinal Drusen/*genetics
Aged ; Aged, 80 and over ; Complement Factor H/genetics ; Female ; Genetic Association Studies ; Genotyping Techniques ; Humans ; Male ; Middle Aged ; Proteins/genetics

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Skocz do pozycji: 4.

Tytuł:: The Bcl-2/Bcl-XL inhibitor ABT-737 promotes death of retinoblastoma cancer cells.
Autorzy:: Allaman-Pillet N; Institute for Research in Ophthalmology, Sion, Switzerland. />Oberson A
Munier F
Schorderet DF; Pokaż więcej
Źródło:: Ophthalmic genetics [Ophthalmic Genet] 2013 Mar-Jun; Vol. 34 (1-2), pp. 1-13. Date of Electronic Publication: 2011 Sep 28.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Antineoplastic Agents/*pharmacology
Apoptosis/*drug effects
Biphenyl Compounds/*pharmacology
Nitrophenols/*pharmacology
Proto-Oncogene Proteins c-bcl-2/*antagonists & inhibitors
Retinal Neoplasms/*pathology
Retinoblastoma/*pathology
Sulfonamides/*pharmacology
bcl-X Protein/*antagonists & inhibitors
Animals ; Blotting, Western ; Caspase 3/metabolism ; Caspase 7/metabolism ; Disease Models, Animal ; Electrophoresis, Polyacrylamide Gel ; Fluorescent Antibody Technique, Indirect ; Humans ; Mice ; Mice, Transgenic ; Piperazines/pharmacology ; Proto-Oncogene Proteins c-bcl-2/metabolism ; Reactive Oxygen Species/metabolism ; Retinal Neoplasms/metabolism ; Retinoblastoma/metabolism ; Tumor Cells, Cultured ; bcl-X Protein/metabolism

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Skocz do pozycji: 5.

Tytuł:: Chiasmatic infiltration secondary to late malignant transformation of retinoma.
Autorzy:: Mataftsi A; Jules Gonin Eye Hospital, Av.de France 15, 1004 Lausanne, Switzerland.
Zografos L
Balmer A
Uffer S
Stupp R
Janzer RC
Pica A
Schorderet DF
Munier FL; Pokaż więcej
Źródło:: Ophthalmic genetics [Ophthalmic Genet] 2012 Sep; Vol. 33 (3), pp. 155-8. Date of Electronic Publication: 2011 Apr 28.
Typ publikacji:: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Cell Transformation, Neoplastic/*pathology
Optic Chiasm/*pathology
Optic Nerve Neoplasms/*pathology
Precancerous Conditions/*pathology
Retinal Neoplasms/*pathology
Retinoblastoma/*pathology
Adult ; Eye Enucleation ; Humans ; Magnetic Resonance Imaging ; Male ; Neoplasm Invasiveness/pathology ; Retinal Neoplasms/genetics ; Retinoblastoma/genetics ; Retinoblastoma Protein/genetics ; Tomography, X-Ray Computed

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Skocz do pozycji: 6.

Tytuł:: Risk assessment of recurrence in sporadic retinoblastoma using a molecular-based algorithm.
Autorzy:: Tran HV; Jules Gonin Eye Hospital, Lausanne, Switzerland.
Schorderet DF
Gaillard MC
Balmer A
Munier FL; Pokaż więcej
Źródło:: Ophthalmic genetics [Ophthalmic Genet] 2012 Mar; Vol. 33 (1), pp. 6-11. Date of Electronic Publication: 2011 Nov 21.
Typ publikacji:: Journal Article; Validation Study
MeSH Terms:: Algorithms*
Genetic Linkage*
Neoplasm Recurrence, Local/*diagnosis
Retinal Neoplasms/*diagnosis
Retinoblastoma/*diagnosis
Child, Preschool ; Genetic Markers ; Haplotypes ; Humans ; Infant ; Infant, Newborn ; Loss of Heterozygosity ; Pedigree ; Retinal Neoplasms/genetics ; Retinoblastoma/genetics ; Retinoblastoma Protein/genetics ; Risk Assessment ; Siblings

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Skocz do pozycji: 7.

Tytuł:: Retinal dystrophy in the oculo-auricular syndrome due to HMX1 mutation.
Autorzy:: Vaclavik V; Jules-Gonin Eye Hospital, Lausanne, Switzerland. />Schorderet DF
Borruat FX
Munier FL; Pokaż więcej
Źródło:: Ophthalmic genetics [Ophthalmic Genet] 2011 Jun; Vol. 32 (2), pp. 114-7. Date of Electronic Publication: 2011 Mar 18.
Typ publikacji:: Case Reports; Journal Article
MeSH Terms:: Mutation*
Ear, External/*abnormalities
Eye Abnormalities/*genetics
Homeodomain Proteins/*genetics
Retinal Dystrophies/*genetics
Transcription Factors/*genetics
Aged ; Child ; Ear, External/pathology ; Electroretinography ; Eye Abnormalities/diagnosis ; Fluorescein Angiography ; Humans ; Male ; Photoreceptor Cells, Vertebrate/pathology ; Retinal Dystrophies/diagnosis ; Retrospective Studies ; Syndrome ; Tomography, Optical Coherence ; Visual Acuity/physiology ; Visual Fields/physiology

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Skocz do pozycji: 8.

Tytuł:: Meesmann corneal dystrophy (MECD): report of 2 families and a novel mutation in the cornea specific keratin 12 (KRT12) gene.
Autorzy:: Nichini O; IRO-Institut de Recherche en Ophtalmologie, Sion, Switzerland.
Manzi Vd
Munier FL
Schorderet DF; Pokaż więcej
Źródło:: Ophthalmic genetics [Ophthalmic Genet] 2005 Dec; Vol. 26 (4), pp. 169-73.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Corneal Dystrophies, Hereditary/*genetics
Keratins/*genetics
Mutation/*genetics
Chromatography, High Pressure Liquid ; Corneal Dystrophies, Hereditary/pathology ; Corneal Dystrophies, Hereditary/surgery ; Epithelium, Corneal/ultrastructure ; Exons/genetics ; Female ; Heterozygote ; Humans ; Keratin-12 ; Keratin-3 ; Male ; Pedigree ; Polymerase Chain Reaction

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Skocz do pozycji: 9.

Tytuł:: Association Down syndrome-retinoblastoma: a new observation.
Autorzy:: Satgè D
Schorderet DF
Balmer A
Beck-Popovic M
Addor MC
Beckmann JS
Munier FL; Pokaż więcej
Źródło:: Ophthalmic genetics [Ophthalmic Genet] 2005 Sep; Vol. 26 (3), pp. 151-2.
Typ publikacji:: Case Reports; Letter; Research Support, Non-U.S. Gov't
MeSH Terms:: Down Syndrome/*complications
Retinal Neoplasms/*complications
Retinoblastoma/*complications
Down Syndrome/diagnosis ; Humans ; Infant ; Retinal Neoplasms/diagnosis ; Retinoblastoma/diagnosis

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Skocz do pozycji: 10.

Tytuł:: Use of denaturing HPLC and automated sequencing to screen the VMD2 gene for mutations associated with Best's vitelliform macular dystrophy.
Autorzy:: Marchant D; Centre de recherche thérapeutique en ophtalmologie, équipe d'accueil 2502 MENRT, Université René Descartes Paris V, Faculté de Médecine Necker-Enfants Malades, Paris, France.
Gogat K
Dureau P
Sainton K
Sternberg C
Gadin S
Dollfus H
Brasseur G
Hache JC
Dumur V
Puech V
Munier F
Schorderet DF
Marsac C
Menasche M
Dufier JL
Abitbol M; Pokaż więcej
Źródło:: Ophthalmic genetics [Ophthalmic Genet] 2002 Sep; Vol. 23 (3), pp. 167-74.
Typ publikacji:: Comparative Study; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Eye Proteins/*genetics
Macular Degeneration/*genetics
Mutation/*genetics
Bestrophins ; Case-Control Studies ; Chloride Channels ; Chromatography, High Pressure Liquid/methods ; DNA/analysis ; DNA Mutational Analysis ; Female ; Humans ; Macular Degeneration/pathology ; Male ; Molecular Sequence Data ; Nucleic Acid Denaturation ; Pedigree ; Polymerase Chain Reaction ; Sequence Analysis, DNA

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Skocz do pozycji: 11.

Tytuł:: MYOC mutation frequency in primary open-angle glaucoma patients from Western Switzerland.
Autorzy:: Mataftsi A; Unité d'Oculogénétique, Hôpital Ophtalmique Jules Gonin, Lausanne, Switzerland.
Achache F
Héon E
Mermoud A
Cousin P
Metthez G
Schorderet DF
Munier FL; Pokaż więcej
Źródło:: Ophthalmic genetics [Ophthalmic Genet] 2001 Dec; Vol. 22 (4), pp. 225-31.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Gene Frequency*
Eye Proteins/*genetics
Glaucoma, Open-Angle/*genetics
Glycoproteins/*genetics
Mutation/*genetics
Adult ; Age of Onset ; Aged ; Aged, 80 and over ; Chromosomes, Human, Pair 1/genetics ; Cytoskeletal Proteins/genetics ; DNA Mutational Analysis ; DNA Primers/chemistry ; Female ; Genotype ; Glaucoma, Open-Angle/diagnosis ; Humans ; Male ; Middle Aged ; Pedigree ; Phenotype ; Polymerase Chain Reaction ; Polymorphism, Single-Stranded Conformational ; Switzerland ; Trabecular Meshwork

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Skocz do pozycji: 12.

Tytuł:: Further delineation of the facial 13q14 deletion syndrome in 13 retinoblastoma patients.
Autorzy:: Bojinova RI; Hôpital Ophtalmique Jules Gonin, Center Hospitalier Universitaire Vaudois, Lausanne, Switzerland
Schorderet DF
Addor MC
Gaide AC
Thonney F
Pescia G
Nenadov-Beck M
Balmer A
Munier FL; Pokaż więcej
Źródło:: Ophthalmic genetics [Ophthalmic Genet] 2001 Mar; Vol. 22 (1), pp. 11-8.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Facies*
Gene Deletion*
Chromosomes, Human, Pair 13/*genetics
Retinal Neoplasms/*genetics
Retinoblastoma/*genetics
Child, Preschool ; Female ; Humans ; Infant ; Male ; Phenotype ; Retinal Neoplasms/ethnology ; Retinal Neoplasms/pathology ; Retinoblastoma/ethnology ; Retinoblastoma/pathology ; Syndrome

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Skocz do pozycji: 13.

Tytuł:: Molecular characterization of the deletion in retinoblastoma patients with 13q14 cytogenetic anomalies.
Autorzy:: Lavanchy L; Department of Pediatrics, CHUV, Lausanne, Switzerland.
Munier FL
Cousin P
Gaide AC
Thonney F
Schorderet DF; Pokaż więcej
Źródło:: Ophthalmic genetics [Ophthalmic Genet] 2001 Mar; Vol. 22 (1), pp. 1-10.
Typ publikacji:: Journal Article
MeSH Terms:: Chromosome Mapping*
Chromosomes, Human, Pair 13*
Gene Deletion*
Retinal Neoplasms/*genetics
Retinoblastoma/*genetics
Child, Preschool ; Chromosome Fragility ; Clone Cells ; DNA/analysis ; Facies ; Female ; Genetic Markers ; Humans ; Infant ; Male ; Retinal Neoplasms/pathology ; Retinoblastoma/pathology ; Syndrome

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Skocz do pozycji: 14.

Tytuł:: Haplotye analysis of Jaanese families with a superficial variant of granular corneal dystrohy: evidence for multiple origins of R124L mutation of keratoepithelin.
Autorzy:: Korvatska E
Yamada M
Yamamoto S
Okada M
Munier FL
Schorderet DF
Mashima Y; Pokaż więcej
Źródło:: Ophthalmic genetics [Ophthalmic Genet] 2000 Mar; Vol. 21 (1), pp. 63-5.
Typ publikacji:: Letter
MeSH Terms:: Extracellular Matrix Proteins*
Genetic Variation*
Haplotypes*
Mutation*
Transforming Growth Factor beta*
Asian People/*genetics
Corneal Dystrophies, Hereditary/*genetics
Neoplasm Proteins/*genetics
Female ; Humans ; Japan ; Male ; Pedigree

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Skocz do pozycji: 15.

Tytuł:: Rhodopsin C110Y mutation causes a type 2 autosomal dominant retinitis pigmentosa.
Autorzy:: Millá E; Hôpital Ophtalmique Jules Gonin, Lausanne, Switzerland.
Héon E
Grounauer PA
Piguet B
Ducrey N
Stone EM
Schorderet DF
Munier FL; Pokaż więcej
Źródło:: Ophthalmic genetics [Ophthalmic Genet] 1998 Sep; Vol. 19 (3), pp. 131-9.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Genes, Dominant*/physiology
Mutation/*physiology
Retinitis Pigmentosa/*genetics
Rhodopsin/*genetics
Adult ; Aged ; Amino Acid Substitution/genetics ; Disease Progression ; Electroretinography ; Female ; Fluorescein Angiography ; Fundus Oculi ; Humans ; Male ; Middle Aged ; Mutation/genetics ; Pedigree ; Retinitis Pigmentosa/pathology ; Retinitis Pigmentosa/physiopathology ; Vision, Ocular/physiology

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