المؤلفون: Lisa S. Kearns, Deepa A Taranath, Sandra E Staffieri, Angela J Chappell, Jillian Nicholl, James E. H. Smith, Emmanuelle Souzeau, Andrew Narita, Kathryn P. Burdon, James E. Elder, Tiger Zhou, Alex W. Hewitt, Jamie E Craig, Jonathan B Ruddle, David A. Mackey, Andrew Dubowsky, Shari Javadiyan, John Pater, Owen M. Siggs

المصدر: Ophthalmology. 127:758-766

مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Adolescent, Open angle glaucoma, Glaucoma, Polymorphism, Single Nucleotide, Young Adult, Gene Frequency, Anterior Eye Segment, medicine, Humans, Exome, alpha-Macroglobulins, Eye Abnormalities, Child, Retrospective Studies, Juvenile open angle, Hydrophthalmos, business.industry, Infant, Newborn, Infant, Complement C3, Sequence Analysis, DNA, medicine.disease, Pedigree, Eye abnormality, Ophthalmology, Phenotype, Trypsin Inhibitor, Kazal Pancreatic, Alpha macroglobulins, Child, Preschool, RNA, Female, business, Glaucoma, Open-Angle

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f32e9ae1985f09ea21ffe7c3307e16b5Test
https://doi.org/10.1016/j.ophtha.2019.12.024Test

المؤلفون: Mark Y. Chiang, Glen A. Gole, Jamie E Craig, Lachlan S.W. Knight, Faren Willett, David A. Mackey, James E. H. Smith, Ayub Qassim, James Breen, Sandra E Staffieri, Guy D’Mellow, James E. Elder, Sean Mullany, Andrea L Vincent, Jonathan B Ruddle, Ivan Goldberg, Owen M. Siggs, Lisa S. Kearns, Susie Luu, Emmanuelle Souzeau, Deepa A Taranath

المصدر: Ophthalmology. 128(11)

مصطلحات موضوعية: Proband, Male, Pediatrics, medicine.medical_specialty, genetic structures, Adolescent, Genotype, Genetic counseling, CYP1B1, Glaucoma, Disease registry, medicine, Humans, Genetic Testing, Registries, Child, Eye Proteins, Intraocular Pressure, Genetic testing, Retrospective Studies, medicine.diagnostic_test, business.industry, Australia, Infant, Newborn, Infant, Genetic Profile, medicine.disease, eye diseases, Pedigree, Ophthalmology, Phenotype, Child, Preschool, Cohort, Mutation, Female, sense organs, business, New Zealand

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::942b8b5c884f66f28a4351a36e2c604eTest
https://pubmed.ncbi.nlm.nih.gov/33892047Test

المؤلفون: Paul Giles, Emmanuelle Souzeau, Andrew Dubowsky, Lisa S. Kearns, Richard A. Mills, Jamie E Craig, Alex W. Hewitt, Trevor Hodson, Sandra E Staffieri, James E. H. Smith, Vivek Phakey, John Landers, James E. Elder, Owen M. Siggs, Tiger Zhou, Deepa A Taranath, Anna Galanopoulos, Jonathan B Ruddle, Kathryn P. Burdon, Julian L Rait, David A. Mackey, John Pater

المصدر: European Journal of Human Genetics

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Heterozygote, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Adolescent, DNA Copy Number Variations, genetic structures, Genetic counseling, Glaucoma, Penetrance, Biology, Article, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Prevalence, Genetics, medicine, Humans, Copy-number variation, 10. No inequality, Genetics (clinical), Aged, Genetic testing, Homeodomain Proteins, medicine.diagnostic_test, Genetic heterogeneity, Age Factors, Forkhead Transcription Factors, Middle Aged, medicine.disease, eye diseases, Genetic architecture, Pedigree, 3. Good health, stomatognathic diseases, 030104 developmental biology, Cohort, 030221 ophthalmology & optometry, Female, sense organs, Corrigendum, Transcription Factors

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::301542206ed9e5e37dd8a06e9276aa86Test
https://doi.org/10.1038/ejhg.2017.59Test

المؤلفون: Clare L. Fraser, Frank A. Billson, Frank Martin, Anson Cheng, David Mowat, Bruce Bennetts, Robyn V. Jamieson, John R. Grigg, Katherine Holman, Alan Ma, Maree Flaherty, Elizabeth Farnsworth, Gladys Ho, James E. H. Smith, John Christodoulou, Ivan Prokudin

المصدر: Human Mutation

مصطلحات موضوعية: Male, 0301 basic medicine, Proband, PAX6 Transcription Factor, genetic structures, DNA Mutational Analysis, Inheritance Patterns, next‐generation sequencing, medicine.disease_cause, Microphthalmia, Connexins, Genes, X-Linked, Exome, Child, Research Articles, Genetics (clinical), Genetics, Mutation, High-Throughput Nucleotide Sequencing, Nuclear Proteins, eye, Pedigree, Microcornea, Phenotype, Child, Preschool, Proto-Oncogene Proteins c-maf, Congenital cataracts, Female, Research Article, Biology, Cataract, 03 medical and health sciences, Dysgenesis, Proto-Oncogene Proteins, medicine, Humans, microcornea, Amino Acid Sequence, Sclerocornea, Alleles, Genetic Association Studies, Genetic heterogeneity, Computational Biology, Membrane Proteins, medicine.disease, Crystallins, eye diseases, Repressor Proteins, 030104 developmental biology, congenital cataract, microphthalmia, sense organs

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e83471a6bb0c48f6587fd36e72631b1Test
https://doi.org/10.1002/humu.22948Test

المؤلفون: Maree Flaherty, John R. Grigg, Vikrant Kumar, Cas Simons, James E. H. Smith, Rebecca Storen, Sonia Davila, Ivan Prokudin, Zai Y Phua, Robyn V. Jamieson

المصدر: European Journal of Human Genetics. 22:907-915

مصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, Candidate gene, PAX6 Transcription Factor, DNA Mutational Analysis, Penetrance, Biology, Bioinformatics, Microphthalmia, Article, Connexins, Growth Differentiation Factor 3, Genetics, medicine, Humans, Paired Box Transcription Factors, Exome, gamma-Crystallins, Eye Proteins, Genetics (clinical), Exome sequencing, Homeodomain Proteins, Coloboma, Anophthalmia, Genetic heterogeneity, Eye Diseases, Hereditary, medicine.disease, eye diseases, Pedigree, Repressor Proteins, Cytochrome P-450 CYP1B1, Mutation, ATP-Binding Cassette Transporters, Female, sense organs

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eccbb548bd9a3524b8baaf6532da0d53Test
https://doi.org/10.1038/ejhg.2013.268Test