نتائج البحث - "Samer Khateb"

1

المساهمون: Ophthalmology, ANS - Complex Trait Genetics

المصدر: American journal of ophthalmology, 225, 95-107. Elsevier USA
American Journal of Ophthalmology, 225, 95-107. Elsevier Inc.
American Journal of Ophthalmology
American Journal of Ophthalmology, 225, 95-107. ELSEVIER SCIENCE INC

مصطلحات موضوعية: Male, Visual acuity, Photophobia, genetic structures, Visual Acuity, 0302 clinical medicine, Child, Genetics, 0303 health sciences, medicine.diagnostic_test, High-Throughput Nucleotide Sequencing, Middle Aged, Phenotype, Potassium Channels, Voltage-Gated, Child, Preschool, Decreased Visual Acuity, Cohort, Female, Original Article, medicine.symptom, Erg, Retinitis Pigmentosa, Tomography, Optical Coherence, Retinopathy, Adult, Adolescent, Vision Disorders, Dark Adaptation, Refraction, Ocular, Nyctalopia, Retina, 03 medical and health sciences, Exome Sequencing, medicine, Electroretinography, Humans, Molecular Biology, Alleles, 030304 developmental biology, Aged, Retrospective Studies, Whole Genome Sequencing, business.industry, Infant, Newborn, Infant, medicine.disease, eye diseases, Ophthalmology, 030221 ophthalmology & optometry, business

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::25c2d32445ffc5056e59894108f29ff3Test
http://www.scopus.com/inward/record.url?scp=85101977838&partnerID=8YFLogxKTest

2

Outcomes of primary rhegmatogenous retinal detachment repair among young adult patients

المؤلفون: Itay Chowers, Khaled Safadi, Samer Khateb

المصدر: Acta Ophthalmologica. 99:892-897

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c52d1b02e6bcefb880fb33d1185d7c56Test
https://doi.org/10.1111/aos.14783Test

3

SENIOR-LØKEN SYNDROME: A Case Series and Review of the Renoretinal Phenotype and Advances of Molecular Diagnosis

المؤلفون: Mor Hanany, Oded Volovelsky, Claudia Yahalom, Michal Macarov, Alaa AlTalbishi, Muhammad Imran Khan, Dror Sharon, Irene Anteby, Samer Khateb, Frans P.M. Cremers, Yahya Alsweiti, Eyal Banin, Nina Schneider

المصدر: Retina-The Journal of Retinal and Vitreous Diseases, 41, 10, pp. 2179-2187
Retina-The Journal of Retinal and Vitreous Diseases, 41, 2179-2187

مصطلحات موضوعية: 0301 basic medicine, Retinal degeneration, Male, Pediatrics, DNA Mutational Analysis, Leber Congenital Amaurosis, 030232 urology & nephrology, Visual Acuity, medicine.disease_cause, Genetic analysis, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], 0302 clinical medicine, Child, Sanger sequencing, Mutation, Color Perception Tests, General Medicine, Kidney Diseases, Cystic, Middle Aged, Pedigree, Phenotype, Molecular Diagnostic Techniques, Child, Preschool, Cohort, symbols, Female, medicine.medical_specialty, Adolescent, Senior–Løken syndrome, Retina, 03 medical and health sciences, symbols.namesake, Young Adult, Optic Atrophies, Hereditary, Retinitis pigmentosa, Exome Sequencing, medicine, Electroretinography, Humans, Adaptor Proteins, Signal Transducing, Retrospective Studies, business.industry, Infant, Proteins, Retrospective cohort study, medicine.disease, Ciliopathies, Ophthalmology, Cytoskeletal Proteins, 030104 developmental biology, Visual Field Tests, Calmodulin-Binding Proteins, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8573dc79d5d0126e6db7a5209bd64858Test
https://hdl.handle.net/2066/237903Test

4

Unique combination of clinical features in a large cohort of 100 patients with retinitis pigmentosa caused by FAM161A mutations

المؤلفون: Mor Hanany, Hadas Newman, Tamar Ben-Yosef, Eedy Mezer, Frans P.M. Cremers, Eyal Banin, Alexey Obolensky, Itay Chowers, Samer Khateb, Muhammad Imran Khan, Avigail Beryozkin, Dror Sharon, Carlos Alberto Idrobo-Robalino

المصدر: Scientific Reports, Vol 10, Iss 1, Pp 1-12 (2020)
Scientific Reports, 10, 1
Scientific Reports, 10
Scientific Reports

مصطلحات موضوعية: Male, 0301 basic medicine, Visual acuity, genetic structures, Visual Acuity, lcsh:Medicine, Diseases, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Cohort Studies, 0302 clinical medicine, Night Blindness, Israel, Child, Signs and symptoms, lcsh:Science, Aged, 80 and over, education.field_of_study, Multidisciplinary, Clinical pathology, medicine.diagnostic_test, Middle Aged, medicine.anatomical_structure, Child, Preschool, Female, medicine.symptom, Retinitis Pigmentosa, Tomography, Optical Coherence, Adult, medicine.medical_specialty, Adolescent, Fundus Oculi, Population, Nonsense mutation, Genes, Recessive, Article, Young Adult, 03 medical and health sciences, Medical research, All institutes and research themes of the Radboud University Medical Center, Ophthalmology, Retinitis pigmentosa, Electroretinography, medicine, Genetics, Humans, Allele, Eye Proteins, Outer nuclear layer, education, Alleles, Aged, business.industry, lcsh:R, medicine.disease, eye diseases, 030104 developmental biology, Jews, Mutation, 030221 ophthalmology & optometry, lcsh:Q, sense organs, Visual Fields, business

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::827c9bb9588d9d53c56e9c32f3396dfaTest
http://link.springer.com/article/10.1038/s41598-020-72028-0Test

5

PHENOTYPIC CHARACTERISTICS OF ROD–CONE DYSTROPHY ASSOCIATED WITH MYO7A MUTATIONS IN A LARGE FRENCH COHORT

المؤلفون: Samer Khateb, Christel Condroyer, Crystel Bonnet, Marco Nassisi, Christina Zeitz, Natalie Loundon, Céline Devisme, Christine Petit, Anne-Françoise Roux, Bahram Bodaghi, Saddek Mohand-Said, Sandrine Marlin, Aline Antonio, José-Alain Sahel, Isabelle Audo, Camille Andrieu

المساهمون: The Hebrew University of Jerusalem (HUJ), Institut de la Vision, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts (CHNO), 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), Génétique et Physiologie de l'Audition, Institut Pasteur [Paris] (IP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre de référence des Surdités Génétiques [CHU Necker, Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Collège de France - Chaire Génétique et physiologie cellulaire, Collège de France (CdF (institution)), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Fondation Ophtalmologique Adolphe de Rothschild [Paris], University of Pittsburgh School of Medicine, Pennsylvania Commonwealth System of Higher Education (PCSHE), Académie des Sciences [Paris], Institut de France, University College of London [London] (UCL), Centre National de la Recherche Scientifique (CNRS)-Sorbonne Université (SU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC), Institut Pasteur [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Centre de référence des Surdités Génétiques, Chaire Génétique et physiologie cellulaire, Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Académie des Sciences

المصدر: RETINA. The Journal of Retinal and Vitreous Diseases
RETINA. The Journal of Retinal and Vitreous Diseases, 2020, 40 (8), pp.1603-1615. ⟨10.1097/IAE.0000000000002636⟩
RETINA
RETINA, Lippincott, Williams & Wilkins, 2020, 40 (8), pp.1603-1615. ⟨10.1097/IAE.0000000000002636⟩

مصطلحات موضوعية: Male, 0301 basic medicine, Visual acuity, genetic structures, [SDV]Life Sciences [q-bio], DNA Mutational Analysis, Visual Acuity, Polymerase Chain Reaction, 0302 clinical medicine, Medicine, Child, Usher Syndrome Type 1, General Medicine, Middle Aged, Pedigree, Visual field, Phenotype, Child, Preschool, Myosin VIIa, Cohort, Female, France, medicine.symptom, Usher Syndromes, Tomography, Optical Coherence, Adult, medicine.medical_specialty, Adolescent, Young Adult, 03 medical and health sciences, Ophthalmology, Genetic variation, Electroretinography, Rod-cone dystrophy, Humans, Genetic Association Studies, Retrospective Studies, business.industry, Infant, Dystrophy, Retrospective cohort study, 030104 developmental biology, Mutation, 030221 ophthalmology & optometry, Visual Field Tests, sense organs, Visual Fields, business, Cone-Rod Dystrophies

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::57ad65d59b4d2f6000268c6ab12ff1afTest
https://doi.org/10.1097/iae.0000000000002636Test

6

Mild aniridia phenotype: an under-recognized diagnosis of a severe inherited ocular disease

المؤلفون: Michal Macarov, Karen Hendler, Anat Blumenfeld, Claudia Yahalom, Orly Wussuki-Lior, Samer Khateb, Mordechai Shohat

المصدر: Graefe's Archive for Clinical and Experimental Ophthalmology. 256:2157-2164

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Visual acuity, PAX6 Transcription Factor, genetic structures, Mutation, Missense, Visual Acuity, Vision, Low, 030105 genetics & heredity, Blindness, Refraction, Ocular, Young Adult, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Ophthalmology, Humans, Medicine, Child, Aniridia, Aged, Retrospective Studies, Genetic testing, medicine.diagnostic_test, business.industry, Corectopia, Genetic heterogeneity, Eye Diseases, Hereditary, Middle Aged, medicine.disease, eye diseases, Sensory Systems, Hypoplasia, Pedigree, Phenotype, Child, Preschool, 030221 ophthalmology & optometry, Female, sense organs, PAX6, medicine.symptom, Differential diagnosis, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d2fccc4f3bac13608bfc16e55cedb6c8Test
https://doi.org/10.1007/s00417-018-4119-1Test

7

TRPM1 Mutations are the Most Common Cause of Autosomal Recessive Congenital Stationary Night Blindness (CSNB) in the Palestinian and Israeli Populations

المؤلفون: Karen Hendler, Claudia Yahalom, Isabelle Audo, Dror Sharon, Samer Khateb, Alaa AlTalbishi, Christina Zeitz, Prasanthi Namburi, Ruth Sheffer, Eyal Banin, Lina Zelinger

المساهمون: The Hebrew University of Jerusalem (HUJ), Hadassah Hebrew University Medical Center [Jerusalem], Institut de la Vision, Centre National de la Recherche Scientifique (CNRS)-Sorbonne Université (SU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts (CHNO), University College of London [London] (UCL), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Gestionnaire, Hal Sorbonne Université

المصدر: Scientific Reports
Scientific Reports, Nature Publishing Group, 2019, 9, pp.12047. ⟨10.1038/s41598-019-46811-7⟩
Scientific Reports, 2019, 9, pp.12047. ⟨10.1038/s41598-019-46811-7⟩
Scientific Reports, Vol 9, Iss 1, Pp 1-6 (2019)

مصطلحات موضوعية: 0301 basic medicine, Male, Molecular biology, lcsh:Medicine, medicine.disease_cause, Genetic analysis, 0302 clinical medicine, Night Blindness, Genotype, Genetics research, Myopia, Medicine, lcsh:Science, Congenital stationary night blindness, Genetics, Mutation, Multidisciplinary, Eye Diseases, Hereditary, Genetic Diseases, X-Linked, Disease gene identification, Retinal diseases, 3. Good health, Arabs, Pedigree, Phenotype, [SDV.MHEP.OS] Life Sciences [q-bio]/Human health and pathology/Sensory Organs, Female, Nonsense mutation, TRPM Cation Channels, Genes, Recessive, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, Article, 03 medical and health sciences, Humans, Genetic Predisposition to Disease, Allele, [SDV.MHEP.OS]Life Sciences [q-bio]/Human health and pathology/Sensory Organs, TRPM1, Alleles, Genetic Association Studies, [SDV.GEN.GPO]Life Sciences [q-bio]/Genetics/Populations and Evolution [q-bio.PE], business.industry, lcsh:R, 030104 developmental biology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Jews, [SDV.GEN.GPO] Life Sciences [q-bio]/Genetics/Populations and Evolution [q-bio.PE], lcsh:Q, business, 030217 neurology & neurosurgery