Articles

Search Articles

Advanced search
Help

Catalogue

Articles

Databases

X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
index medicus (222) 222
humans (217) 217
male (131) 131
female (126) 126
genetics & heredity (121) 121
mutation (108) 108
pedigree (96) 96
adult (81) 81
ophthalmology (75) 75
dna mutational analysis (72) 72
molecular sequence data (65) 65
animals (64) 64
base sequence (52) 52
middle aged (51) 51
retinitis pigmentosa - genetics (49) 49
biochemistry & molecular biology (48) 48
genetic aspects (47) 47
genetic linkage (47) 47
amino acid sequence (45) 45
phenotype (44) 44
gene (43) 43
genes (43) 43
genetics (42) 42
child (41) 41
eye proteins - genetics (41) 41
chromosome mapping (40) 40
adolescent (38) 38
mutations (38) 38
research (38) 38
eye diseases (36) 36
electroretinography (33) 33
mice (32) 32
retinitis pigmentosa (32) 32
leber congenital amaurosis (30) 30
retinitis-pigmentosa (30) 30
retinal degeneration (29) 29
genotype (28) 28
retina (28) 28
x chromosome (28) 28
aged (26) 26
genes, recessive (26) 26
mutation, missense (26) 26
cone-rod dystrophy (25) 25
proteins (25) 25
gene mutations (24) 24
locus (24) 24
mutation - genetics (24) 24
alleles (23) 23
analysis (23) 23
child, preschool (22) 22
polymerase chain reaction (22) 22
protein (22) 22
choroideremia (21) 21
dna - genetics (21) 21
genetic structures (21) 21
identification (21) 21
retinal degeneration - genetics (21) 21
deafness (20) 20
membrane proteins - genetics (20) 20
family (19) 19
genetic disorders (19) 19
haplotypes (19) 19
macular degeneration (19) 19
nerve tissue proteins - genetics (19) 19
polymorphism, single nucleotide (19) 19
young adult (19) 19
article (18) 18
atp-binding cassette transporters - genetics (18) 18
expression (18) 18
homozygote (18) 18
photoreceptors (18) 18
sense organs (18) 18
consanguinity (17) 17
deafness - genetics (17) 17
recessive retinitis-pigmentosa (17) 17
reverse transcriptase polymerase chain reaction (17) 17
blindness (16) 16
carrier proteins - genetics (16) 16
choroideremia - genetics (16) 16
dystrophy (16) 16
fundus oculi (16) 16
retina - metabolism (16) 16
eye proteins - metabolism (15) 15
macular degeneration - genetics (15) 15
proteins - genetics (15) 15
blindness - genetics (14) 14
cloning (14) 14
disease (14) 14
exons (14) 14
fluorescein angiography (14) 14
localization (14) 14
sequence analysis, dna (14) 14
visual acuity (14) 14
genetic markers (13) 13
genetic predisposition to disease (13) 13
research article (13) 13
stationary night blindness (13) 13
abridged index medicus (12) 12
cell line (12) 12
dna (12) 12
more...
Library Location Library Location
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


1. Full Text Retinal gene therapy in patients with choroideremia: initial findings from a phase 1/2 clinical trial
by MacLaren, Robert E, Prof and Groppe, Markus, PhD and Barnard, Alun R, PhD and Cottriall, Charles L, PhD and Tolmachova, Tanya, PhD and Seymour, Len, Prof and Clark, K Reed, PhD and During, Matthew J, Prof and Cremers, Frans P M, Prof and Black, Graeme C M, Prof and Lotery, Andrew J, Prof and Downes, Susan M, FRCOphth and Webster, Andrew R, Prof and Seabra, Miguel C, Prof
Lancet, The, ISSN 0140-6736, 2014, Volume 383, Issue 9923, pp. 1129 - 1137
Summary Background Choroideremia is an X-linked recessive disease that leads to blindness due to mutations in the CHM gene, which encodes the Rab escort... 
Internal Medicine | MEDICINE, GENERAL & INTERNAL | MODELS | CLONING | DISEASE | CHM | MUTATIONS | LEBERS CONGENITAL AMAUROSIS | EXPRESSION | DEGENERATION | Choroideremia - physiopathology | Gene Transfer Techniques | Genetic Vectors - administration & dosage | Retinal Detachment - therapy | Humans | Middle Aged | Transgenes - genetics | Fluorescence | Male | Adaptor Proteins, Signal Transducing - genetics | Retinal Detachment - physiopathology | Adenoviridae - genetics | Adult | Aged | Choroideremia - therapy | Visual Acuity - physiology | Injections, Intraocular | Adaptor Proteins, Signal Transducing - administration & dosage | Genetic Therapy - methods | Care and treatment | Gene therapy | Patient outcomes | Choroideremia | Methods | Macular degeneration | Aging | Retina | Index Medicus | Abridged Index Medicus
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
2. Full Text Retinal dystrophies
: functional genomics to gene therapy
by Bock, Gregory and Chader, Gerry and Goode, Jamie and Novartis Foundation and Foundation Fighting Blindness
2004, 1. Aufl., Novartis Foundation symposium, ISBN 0470853573, Volume 255, 228
Retinal dystrophies are the major causes of incurable blindness in the Western world. Our insight into their aetiology has improved remarkably over the past... 
Retinal degeneration | Gene therapy | Congresses
eBook
Details down arrow
Digital rights down arrow
loading Loading Rights
3. Full Text Genotyping microarray (gene chip) for the ABCR (ABCA4) gene
by Jaakson, K and Zernant, J and Kulm, M and Hutchinson, A and Tonisson, N and Glavac, D and Ravnik-Glavac, M and Hawlina, M and Meltzer, M.R and Caruso, R.C and Testa, F and Maugeri, A and Hoyng, C.B and Gouras, P and Simonelli, F and Lewis, R.A and Lupski, J.R and Cremers, F.P.M and Allikmets, R
Human Mutation, ISSN 1059-7794, 2003, Volume 22, Issue 5, pp. 395 - 403
Genetic variation in the ABCR (ABCA4) gene has been associated with five distinct retinal phenotypes, including Stargardt disease/fundus flavimaculatus... 
microarray | mutation detection | genotyping | ABCA4 | mutation screening | Stargardt disease | STGD1 | ABCR | Mutation detection | Genotyping | Mutation screening | Microarray | SEQUENCE VARIATION | RECESSIVE RETINITIS-PIGMENTOSA | MACULAR DEGENERATION | ARRAYED PRIMER EXTENSION | ALLELIC VARIATION | CONE-ROD DYSTROPHY | TRANSPORTER GENE | GENETICS & HEREDITY | CYSTIC-FIBROSIS | STARGARDT-DISEASE | Genetic Variation | Retinal Diseases - genetics | Reproducibility of Results | ATP-Binding Cassette Transporters - genetics | Oligonucleotide Array Sequence Analysis - methods | Humans | Genotype | DNA Mutational Analysis - methods | Polymorphism, Genetic | ABCR gene | gene chips | DNA microarrays | Index Medicus
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
4. Full Text A post-hoc comparison of the utility of sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseases
by Neveling, K and Feenstra, I and Gilissen, C and Hoefsloot, L.H and Kamsteeg, E.J and Mensenkamp, A.R and Rodenburg, R.J.T and Yntema, H.G and Spruijt, L and Vermeer, S and Rinne, T and Gassen, K.L.I. van and Bodmer, D and Lugtenberg, D and Reuver, R. de and Buijsman, W and Derks, R.C and Wieskamp, N and Heuvel, B. van den and Ligtenberg, M.J.L and Kremer, H and Koolen, D.A and Warrenburg, B.P.C. van de and Cremers, F.P.M and Marcelis, C.L.M and Smeitink, J.A.M and Wortmann, S.B and Zelst-Stams, W.A.G. van and Veltman, J.A and Brunner, H.G and Scheffer, H and Nelen, M.R
Human Mutation, ISSN 1059-7794, 2013, Volume 34, Issue 12, pp. 1721 - 1726
The advent of massive parallel sequencing is rapidly changing the strategies employed for the genetic diagnosis and research of rare diseases that involve a... 
genome diagnostics | exome sequencing | NGS | heterogeneous diseases | diagnostic yield | Diagnostic yield | Heterogeneous diseases | Genome diagnostics | Exome sequencing | ABCA4 | MISSENSE MUTATIONS | GENOME | COLORECTAL-CANCER | GENES | GENETICS & HEREDITY | GERMLINE MUTATIONS | CLINICAL-PRACTICE | Exome | Genetic Testing | Humans | Genetic Diseases, Inborn - genetics | Sequence Analysis, DNA - standards | High-Throughput Nucleotide Sequencing - methods | Genetic Counseling | Genetic Diseases, Inborn - diagnosis | Sequence Analysis, DNA - methods | High-Throughput Nucleotide Sequencing - standards | Comparative analysis | Nucleotide sequencing | DNA sequencing | Index Medicus
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
5. Full Text Early-onset stargardt disease: phenotypic and genotypic characteristics
by Lambertus, S and Huet, R.A.C. van and Bax, N.M and Hoefsloot, L.H and Cremers, F.P.M and Boon, C.J.F and Klevering, B.J and Hoyng, C.B
Ophthalmology, ISSN 0161-6420, 2015, Volume 122, Issue 2, pp. 335 - 344
OBJECTIVE: To describe the phenotype and genotype of patients with early-onset Stargardt disease. DESIGN: Retrospective cohort study. PARTICIPANTS: Fifty-one... 
ALLELIC VARIATION | OPTICAL COHERENCE TOMOGRAPHY | CONE-ROD DYSTROPHY | FUNDUS FLAVIMACULATUS | TRANSPORTER GENE | ABCA4 ABCR GENE | OPHTHALMOLOGY | MUTATIONS | SPECTRUM | CLINICAL ELECTRORETINOGRAPHY | RECESSIVE MACULAR DYSTROPHIES | Humans | Middle Aged | Child, Preschool | Infant | Male | Macular Degeneration - diagnosis | Young Adult | ATP-Binding Cassette Transporters - genetics | DNA Mutational Analysis | Macular Degeneration - epidemiology | Adult | Female | Retrospective Studies | Child | Visual Acuity - physiology | Fluorescein Angiography | Electroretinography | Tomography, Optical Coherence | Ophthalmoscopy | Genotype | Phenotype | Macular Degeneration - congenital | Macular Degeneration - genetics | Adolescent | Age of Onset | Index Medicus
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
6. Full Text Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia
by Kohl, S and Zobor, D and Chiang, W.C and Weisschuh, N and Staller, J and Menendez, I.G and Chang, S and Beck, S.C and Garrido, M. Garcia and Sothilingam, V and Seeliger, M.W and Stanzial, F and Benedicenti, F and Inzana, F and Heon, E and Vincent, A and Beis, J and Strom, T.M and Rudolph, G and Roosing, S and Hollander, A.I. den and Cremers, F.P.M and Lopez, I and Ren, H and Moore, A.T and Webster, A.R and Michaelides, M and Koenekoop, R.K and Zrenner, E and Kaufman, R.J and Tsang, S.H and Wissinger, B and Lin, J.H
Nature Genetics, ISSN 1061-4036, 2015, Volume 47, Issue 7, pp. 757 - 765
Achromatopsia (ACHM) is an autosomal recessive disorder characterized by color blindness, photophobia, nystagmus and severely reduced visual acuity. Using... 
LONG-TERM | RETINAL STRUCTURE | ALPHA-SUBUNIT | CONGENITAL ACHROMATOPSIA | OPTICAL COHERENCE TOMOGRAPHY | MOUSE MODEL | GENETICS & HEREDITY | GENE-THERAPY | ENDOPLASMIC-RETICULUM STRESS | TRANSCRIPTION FACTOR | TOTAL COLOURBLINDNESS | Genetic Association Studies | Humans | Mice, Inbred C57BL | Middle Aged | Male | Mutation, Missense | Unfolded Protein Response | Activating Transcription Factor 6 - genetics | Color Vision Defects - genetics | Mice, Knockout | Young Adult | Animals | Pedigree | Retinal Cone Photoreceptor Cells - pathology | Adolescent | HEK293 Cells | Aged, 80 and over | Adult | Female | Transcription, Genetic | Child | Gene mutations | Genetic susceptibility | Genetic research | Genetic aspects | Research | Color blindness | Health aspects | Risk factors | Haplotypes | Medical research | Biomedical research | Laboratories | Genes | Grants | Patients | Proteins | Hospitals | Photoreceptors | Software | Mutation | Chromosomes | Index Medicus
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
7. Full Text Mutations in the CEP290 ( NPHP6) Gene Are a Frequent Cause of Leber Congenital Amaurosis
by den Hollander, Anneke I and Koenekoop, Robert K and Yzer, Suzanne and Lopez, Irma and Arends, Maarten L and Voesenek, Krysta E.J and Zonneveld, Marijke N and Strom, Tim M and Meitinger, Thomas and Brunner, Han G and Hoyng, Carel B and van den Born, L. Ingeborgh and Rohrschneider, Klaus and Cremers, Frans P.M
The American Journal of Human Genetics, ISSN 0002-9297, 2006, Volume 79, Issue 3, pp. 556 - 561
Leber congenital amaurosis (LCA) is one of the main causes of childhood blindness. To date, mutations in eight genes have been described, which together... 
JOUBERT-SYNDROME | RECESSIVE RETINITIS-PIGMENTOSA | DYSTROPHY | CENTROSOMAL PROTEIN | GENETICS & HEREDITY | Antigens, Neoplasm - genetics | Alternative Splicing | RNA Splice Sites - genetics | Humans | Exons - genetics | Optic Atrophy, Hereditary, Leber - genetics | Homozygote | Optic Atrophy, Hereditary, Leber - pathology | Pedigree | Alleles | Consanguinity | Mutation | Neoplasm Proteins - genetics | Chromosomes, Human, Pair 12 - genetics | Gene mutations | Centrosomes | Causes of | Genetic aspects | Leber's congenital amaurosis | Research | Health aspects | Risk factors | Congenital diseases | Genetic disorders | Genes | Blindness | Children & youth | Index Medicus | Report
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
8. Full Text In Silico Functional Meta-Analysis of 5,962 ABCA4 Variants in 3,928 Retinal Dystrophy Cases
by Cornelis, S.S and Bax, N.M and Zernant, J and Allikmets, R and Fritsche, L.G and Dunnen, J.T. den and Ajmal, M and Hoyng, C.B and Cremers, F.P.M
Human Mutation, ISSN 1059-7794, 2017, Volume 38, Issue 4, pp. 400 - 408
Variants in the ABCA4 gene are associated with a spectrum of inherited retinal diseases (IRDs), most prominently with autosomal recessive (ar) Stargardt... 
retinal dystrophy | meta‐analysis | in silico prediction | genotype‐phenotype correlation | ABCA4 | mild variants | meta-analysis | genotype-phenotype correlation | GENOTYPE | RECESSIVE RETINITIS-PIGMENTOSA | PHENOTYPE | STARGARDT-DISEASE GENE | CONE-ROD DYSTROPHY | TRANSPORTER GENE | GENETICS & HEREDITY | MUTATIONS | BINDING | ASSOCIATION | REVEALS | Severity of Illness Index | Phenotype | ATP-Binding Cassette Transporters - genetics | Computer Simulation | Gene Frequency | Humans | Alleles | Retinal Dystrophies - pathology | Genotype | Mutation | Retinal Dystrophies - genetics | Retinal degeneration | Analysis | Eye diseases | Genetic disorders | Meta-analysis | Index Medicus
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
9. Full Text IMPG2-Associated Retinitis Pigmentosa Displays Relatively Early Macular Involvement
by Huet, R.A.C. van and Collin, R.W.J and Siemiatkowska, A.M and Klaver, C.C and Hoyng, C.B and Simonelli, F and Khan, M.I and Qamar, R and Banin, E and Cremers, F.P.M and Theelen, T and Hollander, A.I. den and Born, L.I. van den and Klevering, B.J
Investigative Ophthalmology and Visual Science, ISSN 0146-0404, 2014, Volume 55, Issue 6, pp. 3939 - 3953
PURPOSE: To provide the first detailed clinical description in patients with RP caused by recessive mutations in IMPG2. METHODS: This international... 
Macular atrophy | Bull's eye maculopathy | Natural course | Retinitis pigmentosa | IMPG2 | MACULOPATHY | macular atrophy | ROD | PHOTORECEPTOR TOPOGRAPHY | INTERPHOTORECEPTOR MATRIX | DOMINANT | natural course | EYE | bull's eye maculopathy | DYSTROPHY | OPHTHALMOLOGY | MUTATIONS | PERIPHERIN/RDS | CONE | Visual Fields - physiology | Humans | Middle Aged | Corneal Dystrophies, Hereditary - genetics | Male | Young Adult | DNA Mutational Analysis | Adult | Female | Color Perception Tests | Night Blindness - genetics | Visual Acuity - physiology | Electroretinography | Tomography, Optical Coherence | Night Blindness - diagnosis | Ophthalmoscopy | Retinitis Pigmentosa - genetics | Corneal Dystrophies, Hereditary - diagnosis | Genes, Recessive | Retinitis Pigmentosa - diagnosis | Vision Disorders - diagnosis | Vision Disorders - genetics | Pedigree | Age of Onset | Aged | Visual Field Tests | Mutation | Proteoglycans - genetics | Index Medicus
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
10. Full Text Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome
by Bujakowska, K.M and Zhang, Q and Siemiatkowska, A.M and Liu, Q and Place, E and Falk, M.J and Consugar, M and Lancelot, M.E and Antonio, A and Lonjou, C and Carpentier, W and Mohand-Said, S and Hollander, A.I. den and Cremers, F.P.M and Leroy, B.P and Gai, X and Sahel, J.A and Born, L.I. van den and Collin, R.W.J and Zeitz, C and Audo, I and Pierce, E.A
Human Molecular Genetics, ISSN 0964-6906, 2015, Volume 24, Issue 1, pp. 230 - 242
Primary cilia are sensory organelles present on most mammalian cells. The assembly and maintenance of primary cilia are facilitated by intraflagellar transport... 
JOUBERT-SYNDROME | CILIARY | LEBER CONGENITAL AMAUROSIS | DYSTROPHY | BIOCHEMISTRY & MOLECULAR BIOLOGY | NONSYNDROMIC RETINITIS-PIGMENTOSA | IN-VIVO | GENETICS & HEREDITY | GENE ABCR | INTRAFLAGELLAR TRANSPORT PROTEIN | CENTROSOMAL PROTEIN | STATIONARY NIGHT BLINDNESS | Retina - metabolism | Humans | Cells, Cultured | Rats | Retinitis Pigmentosa - genetics | Male | Zebrafish | Sequence Analysis, DNA | Exome | Young Adult | Carrier Proteins - genetics | Animals | Pedigree | Bardet-Biedl Syndrome - pathology | Adolescent | Adult | Bardet-Biedl Syndrome - genetics | Female | High-Throughput Nucleotide Sequencing | Mutation | Retina - pathology | Retinitis Pigmentosa - pathology | Index Medicus | Life Sciences | Biochemistry, Molecular Biology | Genomics
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
11. Full Text Next-Generation Sequencing of a 40 Mb Linkage Interval Reveals TSPAN12 Mutations in Patients with Familial Exudative Vitreoretinopathy
by Nikopoulos, Konstantinos and Gilissen, Christian and Hoischen, Alexander and Erik van Nouhuys, C and Boonstra, F. Nienke and Blokland, Ellen A.W and Arts, Peer and Wieskamp, Nienke and Strom, Tim M and Ayuso, Carmen and Tilanus, Mauk A.D and Bouwhuis, Sanne and Mukhopadhyay, Arijit and Scheffer, Hans and Hoefsloot, Lies H and Veltman, Joris A and Cremers, Frans P.M and Collin, Rob W.J
The American Journal of Human Genetics, ISSN 0002-9297, 02/2010, Volume 86, Issue 2, pp. 240 - 247
Familial exudative vitreoretinopathy (FEVR) is a genetically heterogeneous retinal disorder characterized by abnormal vascularisation of the peripheral retina,... 
GENE | VASCULATURE | FZD4 MUTATIONS | GENETICS & HEREDITY | TETRASPANIN FUNCTIONS | VERTEBRATE | GENOME | NORRIN | Amino Acid Sequence | Retinal Diseases - genetics | Genome-Wide Association Study | Membrane Proteins - genetics | Humans | Molecular Sequence Data | Male | Mutation - genetics | Mutation, Missense - genetics | Membrane Proteins - chemistry | DNA Mutational Analysis | Pedigree | Base Pairing - genetics | Base Sequence | Polymorphism, Single Nucleotide - genetics | Retinal Diseases - pathology | Family | Female | Fundus Oculi | Sequence Analysis, DNA - methods | Genetic Linkage | Tetraspanins | Linkage (Genetics) | Research | Nucleotide sequence | Gene mutations | Genetic disorders | Genes | Genomics | Retina | Eye diseases | Mutation | Chromosomes | Index Medicus | Report
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
12. Full Text Genotypic and Phenotypic Characteristics of CRB1-Associated Retinal Dystrophies: A Long-Term Follow-up Study
by Talib, M and Schooneveld, M.J. van and Genderen, M.M. van and Wijnholds, J and Florijn, R.J and Brink, J.B. ten and Schalij-Delfos, N.E and Dagnelie, G and Cremers, F.P.M and Wolterbeek, R and Fiocco, M and Thiadens, A.A and Hoyng, C.B and Klaver, C.C.W and Bergen, A.A and Boon, C.J.F
Ophthalmology, ISSN 0161-6420, 2017, Volume 124, pp. 884 - 895
PURPOSE: To describe the phenotype, long-term clinical course, clinical variability, and genotype of patients with CRB1-associated retinal dystrophies. DESIGN:... 
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
13. Full Text Novel genetic causes for cerebral visual impairment
by Bosch, D.G.M and Boonstra, F.N and Leeuw, N. de and Pfundt, R.P and Nillesen, W.M and Ligt, J. de and Gilissen, C.F.H.A and Jhangiani, S and Lupski, J.R and Cremers, F.P.M and Vries, B.B.A. de
European Journal of Human Genetics, ISSN 1018-4813, 2016, Volume 24, Issue 5, pp. 660 - 665
Cerebral visual impairment (CVI) is a major cause of low vision in children due to impairment in projection and/or interpretation of the visual input in the... 
GLOBAL DEVELOPMENTAL DELAY | HYPOTONIA-SEIZURES SYNDROME | DE-NOVO MUTATIONS | MENTAL-RETARDATION | SEVERE INTELLECTUAL DISABILITY | KCNQ3 MUTATIONS | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | AUTISM SPECTRUM DISORDERS | DYSMORPHIC FEATURES | EPILEPTIC ENCEPHALOPATHY | FAMILIAL NEONATAL CONVULSIONS | Young Adult | Humans | Adolescent | Child, Preschool | Blindness, Cortical - genetics | Female | Male | Polymorphism, Single Nucleotide | Blindness, Cortical - diagnosis | Genetic Loci | Child | Intellectual disabilities | Epilepsy | Genes | Families & family life | Data processing | Heredity | Genomes | Genetic diversity | Data bases | Genetic screening | KCNQ3 protein | Visual impairment | Classification | Blindness | Genetics | Potassium channels (voltage-gated) | Children | Mutation | Index Medicus
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights