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المؤلفون: Lidija Neskovska, Orhideja Stomnaroska
المصدر: PRILOZI. 42:91-94
مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Pediatrics, medicine.medical_specialty, Potocki–Lupski syndrome, Muscle Hypotonia, Autism Spectrum Disorder, Heart malformation, Chromosome Disorders, Contiguous gene syndrome, Megalocornea, Chromosome Duplication, Intellectual disability, medicine, Humans, Abnormalities, Multiple, Comparative Genomic Hybridization, business.industry, Infant, Newborn, Infant, medicine.disease, Hypotonia, Failure to thrive, Female, Smith-Magenis Syndrome, medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::18fecc02ec5562d0fa3a34fffdede983Test
https://doi.org/10.2478/prilozi-2021-0026Test -
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المؤلفون: Alice E. Davidson, Manuela Vaneckova, Stephen J. Tuft, Jana Jedlickova, Martin Hlozanek, Marek Fichtl, Sek-Shir Cheong, Alison J. Hardcastle, Andrea L Vincent, Ales Filous, Lubica Dudakova, Petra Liskova, Pavlina Skalicka
المصدر: Acta ophthalmologicaReferences. 100(4)
مصطلحات موضوعية: Proband, Keratoconus, Pathology, medicine.medical_specialty, genetic structures, Glaucoma, Megalocornea, symbols.namesake, Fuchs heterochromic iridocyclitis, medicine, Humans, Sanger sequencing, business.industry, Eye Diseases, Hereditary, Genetic Diseases, X-Linked, General Medicine, medicine.disease, eye diseases, Neurodevelopmental abnormality, Ophthalmology, medicine.anatomical_structure, Phenotype, symbols, Female, sense organs, business, Cavum septum pellucidum
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d777e88f82ea7281fb8aadbcdb65765Test
https://pubmed.ncbi.nlm.nih.gov/34644435Test -
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المؤلفون: Federica Calì, Marco Castori, Anwar Baban, Antonio Novelli, Aurelio Secinaro, Paola Grammatico, Viola Alesi, Fabrizio Drago, Francesca Romana Lepri, Silvia Morlino
المصدر: American Journal of Medical Genetics Part A. 179:104-112
مصطلحات موضوعية: Heart Defects, Congenital, Male, 0301 basic medicine, Marfan syndrome, Systemic disease, Pathology, medicine.medical_specialty, Roma, Adolescent, Iris, 030105 genetics & heredity, Ectopia Lentis, Corneal Diseases, Marfan Syndrome, 03 medical and health sciences, Megalocornea, Transforming Growth Factor beta, Genetics, medicine, Humans, Child, Ectopia lentis, Genetics (clinical), business.industry, Homozygote, Tall Stature, Eye Diseases, Hereditary, Genetic Diseases, X-Linked, Glaucoma, Heart, medicine.disease, eye diseases, Phenotype, 030104 developmental biology, Microspherophakia, Latent TGF-beta Binding Proteins, Great arteries, Dysplasia, Female, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1bc3fde4d9ce72fe82633905b3b9db9fTest
https://doi.org/10.1002/ajmg.a.10Test -
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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: 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: 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: 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 -
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المؤلفون: Brian J. Forbes, Gil Binenbaum, Georgia Wootton, Elaine H. Zackai, Donna M. McDonald-McGinn, Lindsay Dawson
المصدر: Journal of American Association for Pediatric Ophthalmology and Strabismus. 20:278-280
مصطلحات موضوعية: Male, medicine.medical_specialty, Adolescent, genetic structures, Chromosomes, Human, Pair 22, Physical examination, Nystagmus, 030204 cardiovascular system & hematology, 03 medical and health sciences, Megalocornea, 0302 clinical medicine, DiGeorge syndrome, Ophthalmology, Chromosome Duplication, Gene duplication, DiGeorge Syndrome, medicine, Humans, Abnormalities, Multiple, Eye Abnormalities, Child, Strabismus, Physical Examination, Optic Disk Drusen, Retrospective Studies, medicine.diagnostic_test, business.industry, Infant, medicine.disease, Dilated fundus examination, eye diseases, Child, Preschool, Pediatrics, Perinatology and Child Health, 030221 ophthalmology & optometry, Female, sense organs, medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::025de06b90370c10d86b2dba716a4bdbTest
https://doi.org/10.1016/j.jaapos.2016.02.003Test -
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المؤلفون: Marc Abramowicz, Françoise Meire, Yves Sznajer, Marc Schrooyen, Françoise Roulez, Fanny Depasse, Julie Désir
المصدر: European Journal of Human Genetics
European journal of human geneticsمصطلحات موضوعية: Marfan syndrome, Male, Genetic Linkage, DNA Mutational Analysis, Molecular Sequence Data, Genes, Recessive, Biology, Article, Megalocornea, Microspherophakia, Marfan, Genetics, medicine, Humans, Eye Abnormalities, RNA, Messenger, Ectopia lentis, Child, Genetics (clinical), Base Sequence, Infant, Glaucoma, Syndrome, Sciences bio-médicales et agricoles, medicine.disease, Disease gene identification, Null allele, Exon skipping, Pedigree, Latent TGF-beta Binding Proteins, Child, Preschool, Mutation, microspherophakia, Female, Candidate Gene Analysis, megalocornea
وصف الملف: 1 full-text file(s): application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2f77886f931702e3fe9c9b1362394e1cTest
http://europepmc.org/articles/PMC2987369Test -
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المصدر: Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus. 21(6)
مصطلحات موضوعية: 0301 basic medicine, Heart Defects, Congenital, Male, medicine.medical_specialty, genetic structures, Developmental Disabilities, DNA Mutational Analysis, Optic Disk, Optic disk, Ocular hypertension, Iris, Amblyopia, Osteochondrodysplasias, Nerve Fibers, Myelinated, Craniofacial Abnormalities, 03 medical and health sciences, Megalocornea, Frank–ter Haar syndrome, Ophthalmology, medicine, Humans, Abnormalities, Multiple, Eye Abnormalities, Sibling, Papilledema, Adaptor Proteins, Signal Transducing, Coloboma, business.industry, Choroid, Siblings, Eye Diseases, Hereditary, Genetic Diseases, X-Linked, medicine.disease, eye diseases, Surgery, 030104 developmental biology, medicine.anatomical_structure, Child, Preschool, Pediatrics, Perinatology and Child Health, Mutation, Female, Ocular Hypertension, sense organs, medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::18038b319d253df7a55fb97b89f9a893Test
https://pubmed.ncbi.nlm.nih.gov/29100834Test