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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: Marcin Zaniew, Małgorzata Krajewska-Walasek, Franca Anglani, Krzysztof Pawlaczyk, Anna Niemirska, Maria Addis, Przemysław Sikora, Guido F. Laube, Maria Szczepańska, Florian Recker, Detlef Bockenhauer, Sidharth Kumar Sethi, Valerie Said-Conti, Anna Moczulska, Grzegorz Siteń, Anna Rogowska-Kalisz, Arend Bökenkamp, Belde Kasap-Demir, Nunzia Miglietti, Velibor Tasic, Michael Ludwig, Anna Wasilewska, Mieczysław Litwin, Krystyna H. Chrzanowska
المساهمون: Pediatric surgery, ICaR - Circulation and metabolism
المصدر: Pediatric Nephrology, 30(6), 931-943. Springer Verlag
Recker, F, Zaniew, M, Bockenhauer, D, Miglietti, N, Bokenkamp, A, Moczulska, A, Rogowska-Kalisz, A, Laube, G, Said-Conti, V, Kasap-Demir, B, Niemirska, A, Litwin, M, Siten, G, Chrzanowska, K H, Krajewska-Walasek, M, Sethi, S K, Tasic, V, Anglani, F, Addis, M, Wasilewska, A, Szczepanska, M, Pawlaczyk, K, Sikora, P & Ludwig, M 2015, ' Characterization of 28 novel patients expands the mutational and phenotypic spectrum of Lowe syndrome ', Pediatric Nephrology, vol. 30, no. 6, pp. 931-943 . https://doi.org/10.1007/s00467-014-3013-2Testمصطلحات موضوعية: Male, Heterozygote, Heredity, Time Factors, Adolescent, Oculocerebrorenal syndrome, DNA Mutational Analysis, India, Dent Disease, Cataract, Megalocornea, Chromosome Breakpoints, Young Adult, Predictive Value of Tests, Prevalence, Medicine, Humans, Genetic Predisposition to Disease, Renal Insufficiency, Chronic, Child, Genetics, business.industry, Cilium, Infant, medicine.disease, Hyperosmia, Phenotype, Thrombocytopenia, Phosphoric Monoester Hydrolases, Pedigree, Europe, Hyperacusis, Oculocerebrorenal Syndrome, Nephrology, Child, Preschool, Pediatrics, Perinatology and Child Health, Mutation, Disease Progression, OCRL, CpG Islands, Female, medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb46b963790067899f052a3ba0a78c1fTest
https://pubmed.ncbi.nlm.nih.gov/25480730Test -
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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