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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 -
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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 -
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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 -
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المؤلفون: James E. H. Smith, Angela J Chappell, Tiger Zhou, Kathryn P. Burdon, James E. Elder, Owen M. Siggs, Lisa S. Kearns, Shari Javadiyan, Jonathan B Ruddle, John Pater, David A. Mackey, Sandra E Staffieri, Andrew Narita, Alex W. Hewitt, Deepa A Taranath, Andrew Dubowsky, Jamie E Craig, Emmanuelle Souzeau
مصطلحات موضوعية: 0303 health sciences, medicine.medical_specialty, Congenital glaucoma, Intraocular pressure, genetic structures, business.industry, 030305 genetics & heredity, Glaucoma, Disease, medicine.disease, Compound heterozygosity, eye diseases, 03 medical and health sciences, Dysgenesis, Ophthalmology, medicine, sense organs, Ectopia lentis, business, Exome sequencing, 030304 developmental biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f50d008ff1aaacf7efb07832171d0ab4Test
https://doi.org/10.1101/297077Test -
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المؤلفون: Kathryn P. Burdon, Sandra E Staffieri, David A. Mackey, John Pater, Lisa A Kearns, Jonathan B Ruddle, Alessandra Del Longo, Andrew Narita, Alex W. Hewitt, Deepa A Taranath, Angela J Chappell, Lucia Mauri, Owen M. Siggs, James E. Elder, Julian L Rait, Andrew Dubowsky, Francesca Pasutto, James E. H. Smith, Jamie E Craig, André Reis, Emmanuelle Souzeau
المصدر: JAMA Ophthalmology. 137:348
مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Adolescent, CYP1B1, Glaucoma, 01 natural sciences, Young Adult, 03 medical and health sciences, Megalocornea, 0302 clinical medicine, Prevalence, medicine, Humans, 0101 mathematics, Young adult, Child, Exome sequencing, business.industry, Genetic heterogeneity, 010102 general mathematics, Australia, Forkhead Transcription Factors, medicine.disease, eye diseases, Ophthalmology, Clinical research, Cohort, 030221 ophthalmology & optometry, Female, sense organs, business, New Zealand
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d50c8d41ee991e28dc1a444908298885Test
https://doi.org/10.1001/jamaophthalmol.2018.5646Test -
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المؤلفون: Lisa S. Kearns, Deepa A Taranath, Anna Galanopoulos, Andrew Dubowsky, John Landers, Trevor Hodson, Vivek Phakey, John Pater, James E. H. Smith, Jonathan B Ruddle, Sandra E Staffieri, James E. Elder, Jamie E Craig, Kathryn P. Burdon, Tiger Zhou, Emmanuelle Souzeau, David A. Mackey, Julian L Rait, Richard A. Mills, Owen M. Siggs, Paul Giles, Alex W. Hewitt
المصدر: European Journal of Human Genetics. 25:1290-1290
مصطلحات موضوعية: 0301 basic medicine, Pediatrics, medicine.medical_specialty, business.industry, Glaucoma, 030105 genetics & heredity, medicine.disease, Human genetics, 3. Good health, 03 medical and health sciences, 0302 clinical medicine, Age related, 030221 ophthalmology & optometry, Genetics, medicine, 10. No inequality, business, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::e16f15c746173f3aeda41a3b7542d642Test
https://doi.org/10.1038/ejhg.2017.147Test -
7
المؤلفون: Tiger Zhou, Ivan Goldberg, Kathryn P. Burdon, Melanie Hayes, William H. Morgan, James E. Elder, David A. Mackey, Owen M. Siggs, Emmanuelle Souzeau, Mona S Awadalla, Alex W. Hewitt, Jonathan B Ruddle, Paul R. Healey, Bronwyn Ridge, Andrew Dubowsky, John Landers, James E. H. Smith, Jamie E Craig
المصدر: JAMA ophthalmology. 133(7)
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Pathology, Adolescent, Glaucoma, Compound heterozygosity, Risk Assessment, Severity of Illness Index, Cohort Studies, Young Adult, Sex Factors, Internal medicine, Severity of illness, Medicine, Humans, Genetic Predisposition to Disease, Registries, Child, Scotoma, Allele frequency, Intraocular Pressure, medicine.diagnostic_test, business.industry, Incidence, Age Factors, Australia, Odds ratio, medicine.disease, Ophthalmology, Gene Expression Regulation, Visual field test, Cohort, Cytochrome P-450 CYP1B1, Mutation, Disease Progression, Eye disorder, Female, Visual Fields, business, Glaucoma, Open-Angle, Follow-Up Studies
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7b72ad73c6b87ef5decd18a77f5e9209Test
https://pubmed.ncbi.nlm.nih.gov/25950505Test -
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المؤلفون: Frank Martin, James E. H. Smith, Sophia Zagora, Anne Sophie Veillard, Robyn V. Jamieson, Charlotte L. Funnell, Francis A. Billson, John R. Grigg, Stephen Hing
المصدر: American journal of ophthalmology. 159(4)
مصطلحات موضوعية: Male, medicine.medical_specialty, Intraocular pressure, Visual acuity, Time Factors, genetic structures, Adolescent, Gonioscopy, Visual Acuity, Glaucoma, Subgroup analysis, Trabeculectomy, Cohort Studies, Tonometry, Ocular, Young Adult, Interquartile range, medicine, Humans, Child, Glaucoma Drainage Implants, Intraocular Pressure, Retrospective Studies, Laser Coagulation, business.industry, Medical record, Ciliary Body, Age Factors, Hydrophthalmos, Infant, Retrospective cohort study, medicine.disease, Surgery, Ophthalmology, medicine.anatomical_structure, Treatment Outcome, Child, Preschool, Female, medicine.symptom, business, Optic disc, Follow-Up Studies
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::23e3fcf48112cda08bdeaa707f931e87Test
https://pubmed.ncbi.nlm.nih.gov/25634533Test -
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المؤلفون: Frank A. Billson, Frank Martin, Craig Donaldson, Brighu N. Swamy, Robyn V. Jamieson, Stephen Hing, James E. H. Smith, John R. Grigg
المصدر: The British journal of ophthalmology. 91(12)
مصطلحات موضوعية: Adult, Male, Intraocular pressure, medicine.medical_specialty, Time Factors, genetic structures, Adolescent, medicine.medical_treatment, Glaucoma, Intraocular lens, Cataract Extraction, Kaplan-Meier Estimate, Cataract, Cornea, Cellular and Molecular Neuroscience, Lens Implantation, Intraocular, Predictive Value of Tests, Risk Factors, Ophthalmology, medicine, Prevalence, Humans, Child, Proportional Hazards Models, Retrospective Studies, business.industry, Age Factors, Infant, Cataract surgery, medicine.disease, Sensory Systems, eye diseases, Surgery, Microcornea, Extended Report, Vitreous Body, Editorial, Persistent hyperplastic primary vitreous, Child, Preschool, Capsulotomy, Congenital cataracts, Regression Analysis, Female, sense organs, business, Follow-Up Studies
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::747f22145957eef125aebe21d58b7797Test
https://pubmed.ncbi.nlm.nih.gov/18024804Test