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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: 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: 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: Ophthalmic Genetics. 34:14-20
مصطلحات موضوعية: Male, genetic structures, CYP1B1, DNA Mutational Analysis, Locus (genetics), macromolecular substances, Biology, Bioinformatics, Polymerase Chain Reaction, Consanguinity, Megalocornea, Exon, medicine, Humans, Missense mutation, Ectopia lentis, Intraocular Pressure, Genetics (clinical), Genetics, fungi, Hydrophthalmos, Infant, Newborn, Marfanoid, Infant, Sequence Analysis, DNA, medicine.disease, Pedigree, body regions, Ophthalmology, Buphthalmos, Latent TGF-beta Binding Proteins, Child, Preschool, Cytochrome P-450 CYP1B1, Mutation, Pediatrics, Perinatology and Child Health, Female, Aryl Hydrocarbon Hydroxylases, Genome-Wide Association Study
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb0eaefb4d236797239b1100535bf7a1Test
https://doi.org/10.3109/13816810.2012.716486Test -
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المؤلفون: Anthony T. Moore, Stephen J Tuft, Alison J. Hardcastle, Graham E. Holder, Anthony G. Robson, Jonathan B Ruddle, Sanjay M. Sisodiya, Mahinda Yogarajah, Seyhan Yazar, Wei Ang, Michael E. Cheetham, Jane C. Sowden, Chiea Chuen Khor, Elias I. Traboulsi, Tin Aung, Jessica C. Gardner, Tom R. Webb, Hala Hassan, Mar Matarin, Michel Michaelides, Daniel Kelberman, Craig E. Pennell, David A. Mackey
المصدر: The American Journal of Human Genetics. 90:247-259
مصطلحات موضوعية: Adult, Male, Cerebellum, DNA Copy Number Variations, Molecular Sequence Data, Quantitative Trait Loci, Nerve Tissue Proteins, Biology, Article, Retina, Corneal Diseases, Cornea, White matter, Young Adult, 03 medical and health sciences, Megalocornea, 0302 clinical medicine, Anterior Eye Segment, Genes, X-Linked, Intellectual Disability, Genetics, medicine, Humans, Genetics(clinical), Eye Abnormalities, Eye Proteins, Genetics (clinical), 030304 developmental biology, 0303 health sciences, Neocortex, Base Sequence, Cerebral Palsy, Deep anterior chamber, Brain, Genetic Diseases, X-Linked, Anatomy, Middle Aged, medicine.disease, Megalencephaly, Pedigree, Phenotype, medicine.anatomical_structure, Mutation, 030221 ophthalmology & optometry, Female, sense organs
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::51c3e2b945b77d27185144af594b16d3Test
https://doi.org/10.1016/j.ajhg.2011.12.019Test -
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المؤلفون: Mario Marconi, Lucia Pedace, Marco Castori, Vito Briganti, E Buffone, Luigi Laino, Paola Grammatico, Barbara Grammatico, Andrea Zampini
المصدر: European journal of medical genetics. 53(3)
مصطلحات موضوعية: Polyhydramnios, Microcephaly, Developmental Disabilities, Intestinal Atresia, Biology, Eye, Megalocornea, Genetics, medicine, Humans, Abnormalities, Multiple, Eye Abnormalities, Sclerocornea, Congenital Malformation Syndrome, Genetics (clinical), Comparative Genomic Hybridization, Intestinal atresia, Infant, General Medicine, Anatomy, Syndrome, medicine.disease, Natural history, Jejunal atresia, microcephaly, apple peel intestinal atresia, jejunal atresia, syndrome delineation, strømme syndrome, anterior chamber anomalies, megalocornea, ocular, eye, Female
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::134edc1957f3b435c355570ed29d77c3Test
https://pubmed.ncbi.nlm.nih.gov/20219704Test -
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المؤلفون: Jonathan W. Young, Ricardo F Frausto, Jonathan Han, Anthony J. Aldave, Sherwin J. Isenberg
المصدر: Ophthalmic genetics. 36(2)
مصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, genetic structures, Adolescent, Corneal Pachymetry, Nerve Tissue Proteins, Gene mutation, Biology, Polymerase Chain Reaction, Article, Frameshift mutation, Cornea, Exon, Megalocornea, Gene duplication, medicine, Humans, Corneal pachymetry, Child, Eye Proteins, Frameshift Mutation, Genetics (clinical), medicine.diagnostic_test, Gene Amplification, Corneal Topography, Eye Diseases, Hereditary, Genetic Diseases, X-Linked, Exons, Sequence Analysis, DNA, Corneal topography, medicine.disease, eye diseases, Pedigree, Ophthalmology, medicine.anatomical_structure, Child, Preschool, Pediatrics, Perinatology and Child Health, Female, sense organs
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4425f9cf4ce644f0df0bcb0c9936a1d1Test
https://pubmed.ncbi.nlm.nih.gov/24073597Test -
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المؤلفون: Der Kaloustian Vm, Koenekoop Rk, Dubé P, S. Demczuk, Saabti H
المصدر: Ophthalmic Genetics. 21:211-216
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Retinal coloboma, DNA Mutational Analysis, Trigonocephaly, Biology, Retina, Congenital hydrocephalus, Cornea, Megalocornea, Ophthalmology, Cryptorchidism, medicine, Humans, Deletion syndrome, Abnormalities, Multiple, Global developmental delay, In Situ Hybridization, Fluorescence, Genetics (clinical), Genetics, Infant, Syndrome, medicine.disease, Oculocutaneous albinism, Coloboma, Albinism, Oculocutaneous, Karyotyping, Pediatrics, Perinatology and Child Health, Albinism, Chromosomes, Human, Pair 9, Hydrocephalus
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c31d92bdfa0c25d50b1cc11531a922e5Test
https://doi.org/10.1076/1381-6810Test(200012)2141-hft211 -
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المصدر: Ophthalmic Paediatrics and Genetics. 12:153-157
مصطلحات موضوعية: Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, X Chromosome, Genetic Linkage, Locus (genetics), Biology, Megalocornea, Gene mapping, Genetic linkage, Ophthalmology, Cornea, medicine, Humans, Child, Genetics (clinical), Pigment dispersion, Corneal Dystrophies, Hereditary, Dystrophy, medicine.disease, eye diseases, Pedigree, medicine.anatomical_structure, Pediatrics, Perinatology and Child Health, Female, sense organs
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3aedbf96502307f1f644c826d195c6d9Test
https://doi.org/10.3109/13816819109029398Test -
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المؤلفون: Gordon M. Wise, Robert Buttery, David A. Mackey, Michael J. Denton
المصدر: Archives of Ophthalmology. 109:829
مصطلحات موضوعية: Male, Genetics, Chromosomes, Human, Pair 12, X Chromosome, Genetic Linkage, Mosaic corneal dystrophy, Chromosome Mapping, Locus (genetics), Clinical appearance, Biology, medicine.disease, eye diseases, Pedigree, Cornea, Arcus juvenilis, Ophthalmology, Megalocornea, Cataracts, medicine, Humans, Female, sense organs, Abnormality
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e9ed8b1afe48531032d81281e32fefa9Test
https://doi.org/10.1001/archopht.1991.01080060093033Test