A clinical and molecular characterisation of CRB1-associated maculopathy

10.1038/s41431-017-0082-2

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Main Authors:	Khan, K.N, Robson, A, Mahroo, O.A.R, Arno, G, Inglehearn, C.F, Armengol, M, Waseem, N, Holder, G.E, Carss, K.J, Raymond, L.F, Webster, A.R, Moore, A.T, McKibbin, M, Van Genderen, M.M, Poulter, J.A, Michaelides, M
Other Authors:	OPHTHALMOLOGY
Format:	Article
Published:	Nature Publishing Group 2020
Subjects:	crumbs homologue 1 protein protein unclassified drug CRB1 protein, human eye protein membrane protein nerve protein adult allele Article clinical article electronic patient record female follow up genetic association genetic screening genotype phenotype correlation heterozygote human infant macular degeneration male next generation sequencing ophthalmoscopy optical coherence tomography peripheral retina phenotype priority journal retina maculopathy retrospective study visual acuity young adult adolescent child electronic health record genetic association study genetic predisposition genetics newborn pathology pathophysiology photoreceptor outer segment preschool child Adolescent Adult Alleles Child Child, Preschool Electronic Health Records Eye Proteins Female Genetic Association Studies Genetic Predisposition to Disease Genetic Testing Humans Infant Infant, Newborn Macular Degeneration Male Membrane Proteins Nerve Tissue Proteins Retinal Photoreceptor Cell Outer Segment Young Adult
Online Access:	https://scholarbank.nus.edu.sg/handle/10635/179042
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Institution:	National University of Singapore

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spelling	sg-nus-scholar.10635-1790422024-04-12T05:48:46Z A clinical and molecular characterisation of CRB1-associated maculopathy Khan, K.N Robson, A Mahroo, O.A.R Arno, G Inglehearn, C.F Armengol, M Waseem, N Holder, G.E Carss, K.J Raymond, L.F Webster, A.R Moore, A.T McKibbin, M Van Genderen, M.M Poulter, J.A Michaelides, M OPHTHALMOLOGY crumbs homologue 1 protein protein unclassified drug CRB1 protein, human eye protein membrane protein nerve protein adult allele Article clinical article electronic patient record female follow up genetic association genetic screening genotype phenotype correlation heterozygote human infant macular degeneration male next generation sequencing ophthalmoscopy optical coherence tomography peripheral retina phenotype priority journal retina maculopathy retrospective study visual acuity young adult adolescent child electronic health record genetic association study genetic predisposition genetics newborn pathology pathophysiology photoreceptor outer segment preschool child Adolescent Adult Alleles Child Child, Preschool Electronic Health Records Eye Proteins Female Genetic Association Studies Genetic Predisposition to Disease Genetic Testing Humans Infant Infant, Newborn Macular Degeneration Male Membrane Proteins Nerve Tissue Proteins Retinal Photoreceptor Cell Outer Segment Young Adult 10.1038/s41431-017-0082-2 European Journal of Human Genetics 26 5 687-694 2020-10-22T07:26:07Z 2020-10-22T07:26:07Z 2018 Article Khan, K.N, Robson, A, Mahroo, O.A.R, Arno, G, Inglehearn, C.F, Armengol, M, Waseem, N, Holder, G.E, Carss, K.J, Raymond, L.F, Webster, A.R, Moore, A.T, McKibbin, M, Van Genderen, M.M, Poulter, J.A, Michaelides, M (2018). A clinical and molecular characterisation of CRB1-associated maculopathy. European Journal of Human Genetics 26 (5) : 687-694. ScholarBank@NUS Repository. https://doi.org/10.1038/s41431-017-0082-2 10184813 https://scholarbank.nus.edu.sg/handle/10635/179042 Attribution 4.0 International http://creativecommons.org/licenses/by/4.0/ Nature Publishing Group Unpaywall 20201031
institution	National University of Singapore
building	NUS Library
continent	Asia
country	Singapore Singapore
content_provider	NUS Library
collection	ScholarBank@NUS
topic	crumbs homologue 1 protein protein unclassified drug CRB1 protein, human eye protein membrane protein nerve protein adult allele Article clinical article electronic patient record female follow up genetic association genetic screening genotype phenotype correlation heterozygote human infant macular degeneration male next generation sequencing ophthalmoscopy optical coherence tomography peripheral retina phenotype priority journal retina maculopathy retrospective study visual acuity young adult adolescent child electronic health record genetic association study genetic predisposition genetics newborn pathology pathophysiology photoreceptor outer segment preschool child Adolescent Adult Alleles Child Child, Preschool Electronic Health Records Eye Proteins Female Genetic Association Studies Genetic Predisposition to Disease Genetic Testing Humans Infant Infant, Newborn Macular Degeneration Male Membrane Proteins Nerve Tissue Proteins Retinal Photoreceptor Cell Outer Segment Young Adult
spellingShingle	crumbs homologue 1 protein protein unclassified drug CRB1 protein, human eye protein membrane protein nerve protein adult allele Article clinical article electronic patient record female follow up genetic association genetic screening genotype phenotype correlation heterozygote human infant macular degeneration male next generation sequencing ophthalmoscopy optical coherence tomography peripheral retina phenotype priority journal retina maculopathy retrospective study visual acuity young adult adolescent child electronic health record genetic association study genetic predisposition genetics newborn pathology pathophysiology photoreceptor outer segment preschool child Adolescent Adult Alleles Child Child, Preschool Electronic Health Records Eye Proteins Female Genetic Association Studies Genetic Predisposition to Disease Genetic Testing Humans Infant Infant, Newborn Macular Degeneration Male Membrane Proteins Nerve Tissue Proteins Retinal Photoreceptor Cell Outer Segment Young Adult Khan, K.N Robson, A Mahroo, O.A.R Arno, G Inglehearn, C.F Armengol, M Waseem, N Holder, G.E Carss, K.J Raymond, L.F Webster, A.R Moore, A.T McKibbin, M Van Genderen, M.M Poulter, J.A Michaelides, M A clinical and molecular characterisation of CRB1-associated maculopathy
description	10.1038/s41431-017-0082-2
author2	OPHTHALMOLOGY
author_facet	OPHTHALMOLOGY Khan, K.N Robson, A Mahroo, O.A.R Arno, G Inglehearn, C.F Armengol, M Waseem, N Holder, G.E Carss, K.J Raymond, L.F Webster, A.R Moore, A.T McKibbin, M Van Genderen, M.M Poulter, J.A Michaelides, M
format	Article
author	Khan, K.N Robson, A Mahroo, O.A.R Arno, G Inglehearn, C.F Armengol, M Waseem, N Holder, G.E Carss, K.J Raymond, L.F Webster, A.R Moore, A.T McKibbin, M Van Genderen, M.M Poulter, J.A Michaelides, M
author_sort	Khan, K.N
title	A clinical and molecular characterisation of CRB1-associated maculopathy
title_short	A clinical and molecular characterisation of CRB1-associated maculopathy
title_full	A clinical and molecular characterisation of CRB1-associated maculopathy
title_fullStr	A clinical and molecular characterisation of CRB1-associated maculopathy
title_full_unstemmed	A clinical and molecular characterisation of CRB1-associated maculopathy
title_sort	clinical and molecular characterisation of crb1-associated maculopathy
publisher	Nature Publishing Group
publishDate	2020
url	https://scholarbank.nus.edu.sg/handle/10635/179042
_version_	1800914534557286400

A clinical and molecular characterisation of CRB1-associated maculopathy

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