يعرض 1 - 10 نتائج من 61 نتيجة بحث عن '"L. Largueche"', وقت الاستعلام: 1.71s تنقيح النتائج
  1. 1
    Aspects tomographiques et en autofluorescence du fond d’œil dans la maladie de Best

    المؤلفون: A. Chebil, H. Charfi, L. El Matri, L. Largueche

    المصدر: Journal Français d'Ophtalmologie. 39:543-548

    مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Best disease, genetic structures, medicine.diagnostic_test, business.industry, Vitelliform macular dystrophy, medicine.disease, eye diseases, Best Vitelliform Macular Dystrophy, 03 medical and health sciences, Ophthalmology, Autofluorescence, Macular Lesion, 030104 developmental biology, 0302 clinical medicine, Juvenile onset, Optical coherence tomography, 030221 ophthalmology & optometry, medicine, Maculopathy, sense organs, business

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::a202a0f7f90297d5f0e1341bd1a6b9f6
    https://doi.org/10.1016/j.jfo.2015.08.017

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  2. 2
    Contribution du SD-OCT de la macula dans le diagnostic de l’achromatopsie congénitale : à propos de 6 patients

    المؤلفون: Fedra Kort, H. Charfi, A. Chebil, Mejda Bouladi, L. Largueche, L. El Matri, R. Bouraoui

    المصدر: Journal Français d'Ophtalmologie. 37:296-302

    مصطلحات موضوعية: Ophthalmology

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::613e37c3e1d57657425a288255a4ed9c
    https://doi.org/10.1016/j.jfo.2013.12.008

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  3. 3
    Posterior microphthalmia and nanophthalmia in Tunisia caused by a founder c.1059_1066insC mutation of the PRSS56 gene

    المؤلفون: Peter Söderkvist, Salma Ben Salem, Ebtissem Chouchène, Hammadi Ayadi, Walid Bouassida, Zeineb Benzina, Mariem Ben Said, Kods Daoud, Leila El Matri, Mounira Hmani-Aifa, L. Largueche

    المصدر: Gene. 528:288-294

    مصطلحات موضوعية: Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, Tunisia, genetic structures, Membrane frizzled-related protein, Biology, medicine.disease_cause, Polymorphism, Single Nucleotide, Microphthalmia, Consanguinity, Genetics, medicine, Nanophthalmia, Humans, Microphthalmos, Gene, Aged, Mutation, Anophthalmia, Base Sequence, Sequence Analysis, DNA, General Medicine, Middle Aged, medicine.disease, Founder Effect, eye diseases, Pedigree, Mutagenesis, Insertional, Haplotypes, Female, sense organs, Serine Proteases, Genome-Wide Association Study, Founder effect

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a07b3a07ccd12c20564f827285e45a3
    https://doi.org/10.1016/j.gene.2013.06.045

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  4. 4
    Épaisseur choroïdienne fovéolaire au SD-OCT dans la myopie forte avec ou sans néovaisseaux choroïdiens

    المؤلفون: A. Chebil, Mejda Bouladi, Fedra Kort, L. El Matri, Fatma Mghaieth, L. Largueche

    المصدر: Journal Français d'Ophtalmologie. 36:687-692

    مصطلحات موضوعية: Gynecology, Ophthalmology, medicine.medical_specialty, business.industry, Disease progression, Medicine, High myopia, business

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::f59c0a1d7d610f5ee97bff27c37738c0
    https://doi.org/10.1016/j.jfo.2013.03.009

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  5. 5
    Clinical aspects of Autosomic Recessive Retinitis Pigmentosa Caused by USH2A Mutations in Consanguineous Tunisian Families

    المؤلفون: Fedra Kort, L. Largueche, L. El Matri, A. Chebil, A. Hassairi, Francis L. Munier, Imen Habibi

    المصدر: Acta Ophthalmologica. 93

    مصطلحات موضوعية: medicine.medical_specialty, CRB1, Visual acuity, genetic structures, biology, medicine.diagnostic_test, business.industry, Usher syndrome, Fundus photography, ABCA4, General Medicine, Consanguinity, Fundus (eye), Audiology, medicine.disease, eye diseases, Ophthalmology, Retinitis pigmentosa, biology.protein, Medicine, sense organs, medicine.symptom, business

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::ad85200f43649b8f165663a1b053304a
    https://doi.org/10.1111/j.1755-3768.2015.0465

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  6. 6
    Indocyanine green angiography findings in Stargardt disease

    المؤلفون: L. Largueche, L. El Matri, H. Charfi, A. Hassairi, A. Chebil

    المصدر: Acta Ophthalmologica. 93

    مصطلحات موضوعية: Stargardt disease, Ophthalmology, medicine.medical_specialty, business.industry, Indocyanine green angiography, medicine, General Medicine, medicine.disease, business

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::309366b48b76679067e961c923d73d70
    https://doi.org/10.1111/j.1755-3768.2015.0468

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  7. 7
    Identification of a Novel Mutation inFOXL2Gene That Leads to Blepharophimosis Ptosis Epicanthus Inversus and Telecanthus Syndrome in a Tunisian Consanguineous Family

    المؤلفون: Leila El Matri, A. Chaabouni, L. Largueche, Lamia Cherif, Kaouthar Derouiche, I. Chouchene, Sonia Abdelhak, Ahlem Amouri

    المصدر: Genetic Testing and Molecular Biomarkers. 14:145-148

    مصطلحات موضوعية: Genetics, Telecanthus, General Medicine, Consanguinity, Biology, medicine.disease, Blepharophimosis, Frameshift mutation, Exon, Forkhead box L2, Ptosis, Mutation (genetic algorithm), medicine, medicine.symptom, Genetics (clinical)

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::c85aa8bd2bdf9c86d25ad84562b445c2
    https://doi.org/10.1089/gtmb.2009.0091

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  8. 8
    Whole exome sequencing identifies mutations in Usher syndrome genes in profoundly deaf Tunisian patients

    المؤلفون: Sonia Abdelhak, Zied Riahi, L. Largueche, Rim Zainine, Moncef Kheirallah, Leila Elmatri, Christine Petit, Ghazi Besbes, Saida Lahbib, Yosra Bouyacoub, J. Marrakchi, Crystel Bonnet, Jean-Pierre Hardelin, Salim Ben Yahia, Rym Bechraoui, Malek Louha

    المساهمون: Laboratoire de Génomique Biomédicale et Oncogénétique - Biomedical Genomics and Oncogenetics Laboratory (LR11IPT05), Université de Tunis El Manar (UTM)-Institut Pasteur de Tunis, Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP), Institut Pasteur de Tunis, Réseau International des Instituts Pasteur (RIIP), University of Tunis El Manar, Institut de la Vision, Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Otorhinolaryngology Diseases, Hôpital La Rabta [Tunis], Université de Monastir - University of Monastir (UM), Collège de France - Chaire Génétique et physiologie cellulaire, Collège de France (CdF (institution)), CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Unité de recherche d'oculogénétique, Service B, Institut Hedi Rais d'ophtalmologie, Department of Ophthalmology, CHU Fattouma Bourguiba [Monastir] (HFB), This work was supported by the Tunisian Ministry of Public Health, the Ministry of Higher Education and Scientific Research (LR11IPT05), the E.C. Grant agreement N° 295097 for FP7 project GM-NCD-Inco (www.genomedika.org), ZR is recipient of a Mobidoc Fellowship under the Programme d’Appui au Système de recherche et d’Innovation (PASRI-Europe Aid) and BNP Paribas foundation., European Project: 295097,EC:FP7:INCO,FP7-INCO-2011-6,GM_NCD_IN_CO(2011), Université de Tunis - El Manar II, Université de Tunis El Manar (UTM), Chaire Génétique et physiologie cellulaire, Oficjalska, Danuta, Reinforcing IPT capacities in Genomic Medicine, Non Communicable Diseases Investigation and international cooperation - GM_NCD_IN_CO - - EC:FP7:INCO2011-12-01 - 2014-11-30 - 295097 - VALID

    المصدر: PLoS ONE
    PLoS ONE, 2015, 10 (3), pp.e0120584. ⟨10.1371/journal.pone.0120584⟩
    PLoS ONE, Public Library of Science, 2015, 10 (3), pp.e0120584. ⟨10.1371/journal.pone.0120584⟩
    PLoS ONE, Vol 10, Iss 3, p e0120584 (2015)

    مصطلحات موضوعية: Male, Tunisia, Genotype, Usher syndrome, Nonsense mutation, lcsh:Medicine, Deafness, Myosins, Biology, [SDV.BBM.BM] Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, Connexins, Retina, Frameshift mutation, [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], Retinitis pigmentosa, medicine, otorhinolaryngologic diseases, Humans, Missense mutation, Exome, Family, lcsh:Science, Exome sequencing, Genetics, Multidisciplinary, lcsh:R, High-Throughput Nucleotide Sequencing, [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, medicine.disease, eye diseases, Pedigree, 3. Good health, Connexin 26, Phenotype, Mutation, Anticipation (genetics), [SDV.BBM.GTP] Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], Female, lcsh:Q, Genome-Wide Association Study, Research Article

    وصف الملف: application/pdf

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49896b9629524498a57fde1557d4de8a
    https://hal-pasteur.archives-ouvertes.fr/pasteur-01221041/document

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  9. 9
    [Optical coherence tomography and fundus autofluorescence in Best macular dystrophy]

    المؤلفون: A, Chebil, H, Charfi, L, Largueche, L, El Matri

    المصدر: Journal francais d'ophtalmologie. 39(6)

    مصطلحات موضوعية: Fundus Oculi, Optical Imaging, Humans, Female, Middle Aged, Tomography, Optical Coherence, Vitelliform Macular Dystrophy

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::ece77a0c69d49c9007e14c4ae189c969
    https://pubmed.ncbi.nlm.nih.gov/27206620

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  10. 10
    [Clinical characterization of the Stargardt disease and molecular exploration of the c.2041CT mutation (ABCA4 gene) in Tunisian patients]

    المؤلفون: Sonia Abdelhak, Leila El Matri, I. Chouchene, Farah Ouechtati, Ahmed Turki, L. Largueche, Kawthar Derouiche

    المساهمون: Unité de recherche d'oculogénétique, Service B, Institut Hedi Rais d'ophtalmologie, Laboratoire de Génomique Biomédicale et Oncogénétique - Biomedical Genomics and Oncogenetics Laboratory (LR11IPT05), Université de Tunis El Manar (UTM)-Institut Pasteur de Tunis, Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP)

    المصدر: Annales de Biologie Clinique
    Annales de Biologie Clinique, John Libbey Eurotext, 2013, 71 (6), pp.645-51. ⟨10.1684/abc.2013.0912⟩

    مصطلحات موضوعية: Male, 030213 general clinical medicine, genetic structures, DNA Mutational Analysis, ABCA4, Consanguinity, Macular Degeneration, 0302 clinical medicine, MESH: Child, Stargardt Disease, MESH: DNA Mutational Analysis, Child, MESH: Genetic Association Studies, MESH: Middle Aged, biology, MESH: Polymorphism, Single Nucleotide, General Medicine, Middle Aged, 3. Good health, Pedigree, MESH: Young Adult, Child, Preschool, Mutation (genetic algorithm), MESH: ATP-Binding Cassette Transporters, Female, MESH: Tunisia, Adult, Tunisia, Adolescent, MESH: Pedigree, Mutation, Missense, Polymorphism, Single Nucleotide, 03 medical and health sciences, Young Adult, medicine, Humans, Family, MESH: Family, MESH: Macular Degeneration, Genetic Association Studies, MESH: Adolescent, MESH: Consanguinity, MESH: Mutation, Missense, MESH: Humans, MESH: Child, Preschool, MESH: Adult, medicine.disease, Molecular biology, MESH: Male, Stargardt disease, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, biology.protein, ATP-Binding Cassette Transporters, MESH: Female

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ad9900a41df392af6d6aa6cf8216eb7
    https://pubmed.ncbi.nlm.nih.gov/24342785

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