-
1
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 -
2
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 -
3
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 -
4
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 -
5
المؤلفون: Lawrence J, Oh, Eugene, Wong, Juliana, Andrici, Peter, McCluskey, James E H, Smith, Anthony J, Gill
المصدر: Internal medicine journal. 48(4)
مصطلحات موضوعية: Adult, Aged, 80 and over, Blood Platelets, Male, Adolescent, Neutrophils, Giant Cell Arteritis, Ancillary Services, Hospital, Blood Sedimentation, Middle Aged, Blood Cell Count, Diagnosis, Differential, Young Adult, Humans, Female, Lymphocytes, Biomarkers, Aged
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::77b17c634e3eec075a4d803e75cbbf59Test
https://pubmed.ncbi.nlm.nih.gov/29722199Test -
6
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 -
7
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 -
8
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 -
9
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 -
10
المؤلفون: Robyn V. Jamieson, James E. H. Smith, Jeremy Smith, Frank Martin, Simon E. Skalicky, Michael P. Jones, John R. Grigg, Andrew White, Craig Donaldson, Maree Flaherty
المصدر: JAMA ophthalmology. 131(12)
مصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Inheritance Patterns, Microphthalmia, Cataract, Ocular Motility Disorders, Anterior Eye Segment, Ophthalmology, Anophthalmos, medicine, Humans, Microphthalmos, Child, Retrospective Studies, Coloboma, Anophthalmia, business.industry, Infant, Newborn, Infant, medicine.disease, eye diseases, Surgery, Child, Preschool, Etiology, Female, sense organs, Abnormality, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ea056d1bd47141a020e5e48434cca879Test
https://pubmed.ncbi.nlm.nih.gov/24177921Test