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المؤلفون: Anne-Sophie Guilbert, Charlie De Melo, Elise Schaefer, Benjamin Durand, Hélène Dollfus, Corinne Stoetzel, Nadège Calmels, Leonardo Donato, Dana Timbolschi, Nadine Kempf, Sophie Scheidecker, Dominique Astruc, Arnaud Sauer, Maria Cristina Antal, Salima El Chehadeh
المساهمون: Laboratoire de Génétique Médicale (LGM), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM), Laboratoire de Génétique Médicale, Hôpital Jeanne de Flandre [Lille]-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Dynamique des interactions hôte pathogène (DIHP), Université de Strasbourg (UNISTRA), Laboratoire des sciences de l'ingénieur, de l'informatique et de l'imagerie (ICube), École Nationale du Génie de l'Eau et de l'Environnement de Strasbourg (ENGEES)-Université de Strasbourg (UNISTRA)-Institut National des Sciences Appliquées - Strasbourg (INSA Strasbourg), Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Institut National de Recherche en Informatique et en Automatique (Inria)-Les Hôpitaux Universitaires de Strasbourg (HUS)-Centre National de la Recherche Scientifique (CNRS)-Matériaux et Nanosciences Grand-Est (MNGE), Université de Strasbourg (UNISTRA)-Université de Haute-Alsace (UHA) Mulhouse - Colmar (Université de Haute-Alsace (UHA))-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS)-Université de Strasbourg (UNISTRA)-Université de Haute-Alsace (UHA) Mulhouse - Colmar (Université de Haute-Alsace (UHA))-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS)-Réseau nanophotonique et optique, Université de Strasbourg (UNISTRA)-Université de Haute-Alsace (UHA) Mulhouse - Colmar (Université de Haute-Alsace (UHA))-Centre National de la Recherche Scientifique (CNRS)-Université de Strasbourg (UNISTRA)-Centre National de la Recherche Scientifique (CNRS)
المصدر: European Journal of Medical Genetics
European Journal of Medical Genetics, 2020, 63 (4), pp.103857. ⟨10.1016/j.ejmg.2020.103857⟩مصطلحات موضوعية: 0301 basic medicine, Heart Defects, Congenital, Pathology, medicine.medical_specialty, Developmental Disabilities, Glaucoma, 030105 genetics & heredity, Osteochondrodysplasias, Craniofacial Abnormalities, 03 medical and health sciences, Camptodactyly, Megalocornea, Frank–ter Haar syndrome, Genetics, Medicine, Humans, Abnormalities, Multiple, Craniofacial, Genetics (clinical), Adaptor Proteins, Signal Transducing, [SDV.GEN]Life Sciences [q-bio]/Genetics, business.industry, Infant, Newborn, Infant, General Medicine, medicine.disease, Hypotonia, Buphthalmos, 030104 developmental biology, Phenotype, Invadopodia, Female, medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a6b76b85cfc1da9251056eb027ad583fTest
https://hal.science/hal-03806708Test -
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المؤلفون: Marc Alfred C Mangahas, John Mark S. de Leon
المصدر: Digital Journal of Ophthalmology. 27:29-32
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, business.industry, Gonioscopy, Microscopy, Acoustic, Eye Diseases, Hereditary, Genetic Diseases, X-Linked, General Medicine, Slit Lamp Microscopy, medicine.disease, Tonometry, Ocular, Megalocornea, Trabecular Meshwork, Ophthalmology, Optic Nerve Diseases, medicine, Humans, Glaucoma Drainage Implants, business, Glaucoma, Open-Angle, Intraocular Pressure, Tomography, Optical Coherence
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b4da3d2aff3b8ded4ee502168fef88d9Test
https://doi.org/10.5693/djo.03.2020.12.003Test -
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المؤلفون: Eran Pras, Yafit Hachmo, Nadav Shoshany, Anat Maytal, Carine Michiels, Noam Shomron, Chen Weiner, Fani Segev, Adi Einan-Lifshitz, Idan Hecht, David Zadok, Alina Kotlyar, Olivier De Backer, Uri Elbaz
المصدر: Weiner, C, Hecht, I, Kotlyar, A, Shoshany, N, Zadok, D, Elbaz, U, Segev, F, Maytal, A, Hachmo, Y, Michiels, C, De Backer, O, Shomron, N, Einan-Lifshitz, A & Pras, E 2021, ' Association of Variants in TMEM45A With Keratoglobus ', JAMA ophthalmology, vol. 139, no. 10, pp. 1089-1095 . https://doi.org/10.1001/jamaophthalmol.2021.3172Test
JAMA Ophthalmolمصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Keratoconus, Compound heterozygosity, Cornea, Mice, Megalocornea, symbols.namesake, medicine, Animals, Humans, Eye Abnormalities, Child, Original Investigation, Sanger sequencing, business.industry, Genetic disorder, Membrane Proteins, Eye Diseases, Hereditary, Genetic Diseases, X-Linked, Corneal perforation, medicine.disease, eye diseases, Corneal Disorder, Ophthalmology, medicine.anatomical_structure, symbols, Female, business, Keratoglobus
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::40c963751be13fc560241ee87ea25bceTest
https://doi.org/10.1001/jamaophthalmol.2021.3172Test -
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المؤلفون: Aparna Rao, Rakhi P Dcruz
المصدر: BMJ Case Reports. 14:e244350
مصطلحات موضوعية: Male, medicine.medical_specialty, genetic structures, Glaucoma, Aphakia, Megalocornea, Rare Diseases, Ophthalmology, medicine, Humans, Eye Abnormalities, Iridodonesis, Intraocular Pressure, business.industry, Deep anterior chamber, Eye Diseases, Hereditary, Genetic Diseases, X-Linked, General Medicine, Middle Aged, medicine.disease, eye diseases, Aniridia, Optic nerve, sense organs, business, Rare disease
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::608b3b0867dea8bc679a6a582fb6656dTest
https://doi.org/10.1136/bcr-2021-244350Test -
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المؤلفون: Kristina Vollbach, Sonja Trepels-Kottek, Norbert Wagner, Miriam Elbracht, Ingo Kurth, Thorsten Orlikowsky, Klaus Tenbrock, Till Braunschweig
المصدر: European Journal of Medical Genetics. 64:104209
مصطلحات موضوعية: Male, Alveolar capillary dysplasia, medicine.medical_specialty, medicine.medical_treatment, Persistent Fetal Circulation Syndrome, Pulmonary heart disease, Megalocornea, Pulmonary Heart Disease, Internal medicine, Genetics, medicine, Humans, Ectopia lentis, Genetics (clinical), Mechanical ventilation, business.industry, Macrocephaly, Infant, Eye Diseases, Hereditary, Genetic Diseases, X-Linked, Glaucoma, General Medicine, medicine.disease, Pathophysiology, Pulmonary Alveoli, Phenotype, Latent TGF-beta Binding Proteins, Respiratory failure, Pulmonary Veins, Cardiology, medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::03aaba02c9691226e6b8a3549ee96790Test
https://doi.org/10.1016/j.ejmg.2021.104209Test -
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المؤلفون: Changwon Kee, Jong Chul Han, Youngkyo Kwun, Eun Jung Lee
المصدر: Korean Journal of Ophthalmology : KJO
مصطلحات موضوعية: 0301 basic medicine, Adult, Male, medicine.medical_specialty, Open angle glaucoma, genetic structures, Visual impairment, Population, Family history, Vision Disorders, Glaucoma, Optic neuropathy, 03 medical and health sciences, Megalocornea, Tonometry, Ocular, Young Adult, 0302 clinical medicine, Juvenile-onset open angle glaucoma, Ophthalmology, medicine, Visual field progression, Humans, education, Intraocular Pressure, Retrospective Studies, education.field_of_study, business.industry, General Medicine, medicine.disease, Prognosis, eye diseases, Buphthalmos, 030104 developmental biology, 030221 ophthalmology & optometry, Optic nerve, Disease Progression, Visual Field Tests, Original Article, Female, sense organs, medicine.symptom, Visual Fields, business, Glaucoma, Open-Angle, Follow-Up Studies
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd62d17f7143cda2715eae068fbae758Test
http://europepmc.org/articles/PMC4820523Test -
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المؤلفون: Nicola Perrotti, Teresa Grillone, Rodolfo Iuliano, Vincenzo Scorcia, Domenica Mangialavori, Adriano Carnevali, Emma Colao, D Bruzzichessi
المصدر: Cornea. 34:976-979
مصطلحات موضوعية: Male, Proband, DNA Mutational Analysis, Nerve Tissue Proteins, Biology, Polymerase Chain Reaction, Megalocornea, Exon, medicine, Humans, Coding region, Child, Eye Proteins, Gene, Sequence Deletion, Genetics, Eye Diseases, Hereditary, Genetic Diseases, X-Linked, Middle Aged, medicine.disease, Stop codon, Pedigree, Ophthalmology, genomic DNA, Child, Preschool, Mutation (genetic algorithm)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::28fbdfd36aad3ac4326220b3d1bfbd37Test
https://doi.org/10.1097/ico.0000000000000472Test -
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المؤلفون: Stephanie Figg, Damien C.M. Yeo, William M.H Moore
المصدر: Ophthalmology. 125(5)
مصطلحات موضوعية: Male, medicine.medical_specialty, Corneal Wavefront Aberration, business.industry, Congenital megalocornea, Eye Diseases, Hereditary, Genetic Diseases, X-Linked, Cornea, Ophthalmology, Anterior Eye Segment, Child, Preschool, Medicine, Humans, business, Sclera
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e75e3904d1117c8b86d36179a4fc9797Test
https://pubmed.ncbi.nlm.nih.gov/29681294Test -
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المؤلفون: Harminder S Dua, Giulio Pocobelli, Dalia G. Said, Marco Messina, Andrew R. Ross
المصدر: Journal of cataract and refractive surgery. 44(3)
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Distance visual acuity, genetic structures, Pseudophakia, Long term follow up, medicine.medical_treatment, Visual Acuity, Intraocular lens, Cataract Extraction, Cataract, 03 medical and health sciences, Megalocornea, 0302 clinical medicine, Lens Implantation, Intraocular, Ophthalmology, medicine, Humans, In patient, cardiovascular diseases, Nylon sutures, business.industry, Siblings, Suture Techniques, Eye Diseases, Hereditary, Genetic Diseases, X-Linked, Cataract surgery, Middle Aged, equipment and supplies, medicine.disease, eye diseases, Sensory Systems, Capsular bag, 030221 ophthalmology & optometry, Surgery, sense organs, business, 030217 neurology & neurosurgery, Follow-Up Studies
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::060b097e6d76d79e366c6d91725d51beTest
https://pubmed.ncbi.nlm.nih.gov/30368364Test -
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المؤلفون: Denise Emmerich, Björn Fischer-Zirnsak, Peter Ruokonen, Barbara Seliger, Renate Buchen, Eva Klopocki, Peter Krawitz, Jochen Hecht, Katrin Hoffmann, Thomas Reinhard, Dagmar Quandt, Ekkehart Lausch, Thomas Hollemann, Thorsten Pfirrmann, Bernhard Zabel, Claudia Auw-Haedrich, Pablo Villavicencio-Lorini, Sigmar Stricker, Peter Meyer
مصطلحات موضوعية: Male, Adolescent, ved/biology.organism_classification_rank.species, DNA Mutational Analysis, Xenopus, Gene Expression, Nerve Tissue Proteins, Bone Morphogenetic Protein 4, Bone morphogenetic protein, Cornea, Megalocornea, Xenopus laevis, Genetics, medicine, Animals, Humans, Limbal stem cell, Model organism, Eye Proteins, Frameshift Mutation, Molecular Biology, Genetics (clinical), Genetic Association Studies, Cornea disorder, biology, Base Sequence, ved/biology, Eye Diseases, Hereditary, Genetic Diseases, X-Linked, General Medicine, biology.organism_classification, medicine.disease, Phenotype, eye diseases, Cell biology, Pedigree, medicine.anatomical_structure, Female, sense organs, Signal Transduction
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aaf4ca420cd52c7cb2cb231f36f77f8bTest
http://doc.rero.ch/record/300559/files/ddv063.pdfTest