X
Search Filters
Format Format
Format Format
X
Sort by Item Count (A-Z)
Filter by Count
Journal Article (161) 161
Publication (38) 38
Dissertation (16) 16
Book Chapter (14) 14
Book Review (6) 6
Conference Proceeding (4) 4
Book / eBook (1) 1
Patent (1) 1
more...
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
index medicus (115) 115
humans (111) 111
male (65) 65
female (63) 63
pedigree (63) 63
mutation (55) 55
retinitis pigmentosa - genetics (53) 53
ophthalmology (52) 52
genetics & heredity (47) 47
genes, dominant (38) 38
adult (36) 36
article (31) 31
retinitis pigmentosa (31) 31
phenotype (29) 29
chromosome mapping (28) 28
genetic linkage (27) 27
eye diseases (26) 26
middle aged (26) 26
molecular sequence data (26) 26
mutations (25) 25
dna mutational analysis (22) 22
genetics (21) 21
animals (20) 20
base sequence (20) 20
biochemistry & molecular biology (20) 20
eye proteins - genetics (20) 20
genes (19) 19
genetic aspects (19) 19
gene (18) 18
polymerase chain reaction (18) 18
alleles (16) 16
amino acid sequence (16) 16
dissertations, academic (16) 16
genotype (16) 16
haplotypes (16) 16
disease (15) 15
families (15) 15
polymorphism, genetic (15) 15
research (15) 15
sense organs (15) 15
identification (14) 14
proteins (14) 14
retina (14) 14
retina - metabolism (14) 14
retinal degeneration (14) 14
aged (13) 13
child (13) 13
electroretinography (13) 13
genetic markers (13) 13
genetic structures (13) 13
retinitis-pigmentosa (13) 13
cone-rod dystrophy (12) 12
degeneration (12) 12
leber congenital amaurosis (12) 12
mice (12) 12
public health (12) 12
sequence analysis, dna (12) 12
dominant retinitis-pigmentosa (11) 11
exons (11) 11
genetic variation (11) 11
prevalence (11) 11
protein (11) 11
retinal degeneration - genetics (11) 11
adolescent (10) 10
dna - genetics (10) 10
expression (10) 10
gene frequency (10) 10
genetic disorders (10) 10
genetic testing (10) 10
medicine, research & experimental (10) 10
polymorphism, single nucleotide (10) 10
abridged index medicus (9) 9
imp dehydrogenase - genetics (9) 9
locus (9) 9
polymorphism, single-stranded conformational (9) 9
blindness (8) 8
cattle (8) 8
disease-causing mutations (8) 8
eye proteins (8) 8
linkage (8) 8
lod score (8) 8
mutation - genetics (8) 8
point mutation (8) 8
polymorphism, restriction fragment length (8) 8
research article (8) 8
retinitis pigmentosa - pathology (8) 8
rhodopsin gene (8) 8
amino acid substitution (7) 7
analysis (7) 7
biotechnology & applied microbiology (7) 7
child, preschool (7) 7
dna (7) 7
gene mutations (7) 7
messenger-rna (7) 7
mutation, missense (7) 7
next-generation sequencing (7) 7
photoreceptor (7) 7
photoreceptors (7) 7
retinal diseases - genetics (7) 7
retinitis pigmentosa - diagnosis (7) 7
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


American Journal of Ophthalmology, ISSN 0002-9394, 04/2019, Volume 200, pp. 76 - 84
Variants in , a splicing factor, are a common cause of autosomal dominant retinitis pigmentosa (RP). Deleterious variants are thought to cause disease by... 
MESSENGER-RNA | OPTICAL COHERENCE TOMOGRAPHY | FAMILIES | GENES | OPHTHALMOLOGY | AUTOSOMAL-DOMINANT | PRPF31 | MUTATIONS | EXPRESSION | CELL-DEATH | HAPLOINSUFFICIENCY | Retinitis pigmentosa | Development and progression | Proteins | Statistical analysis | Retina | Genetic testing | Mutation | Ophthalmology | Patients | Deoxyribonucleic acid--DNA | Age
Journal Article
Healthcare, ISSN 2213-0764, 2018, Volume 7, Issue 1, pp. 44 - 50
Introduction: Adoption of Medicaid Section 1115 waiver is one of the many ways of innovating healthcare delivery system. The Delivery System Reform Incentive... 
Preventable Hospitalization Rate Change: DSRIP and PH rates | Hospitalization Rates | IMPROVEMENT | HEALTH POLICY & SERVICES | Macro- and Micro- care delivery environmental factors on DSRIP policy | HEALTH | Impact of DSRIP on Preventable | Interrupted Time Series Regression Analysis | DSRIP Policy
Journal Article
Advances in Experimental Medicine and Biology, ISSN 0065-2598, 2018, Volume 1074, pp. 237 - 245
Genetic testing of probands in families with an initial diagnosis of autosomal dominant retinitis pigmentosa (adRP) usually confirms the diagnosis, but there... 
Autosomal dominant retinitis pigmentosa | Next-generation sequencing | X-linked retinitis pigmentosa | Prevalence of mutations | Retinitis pigmentosa (RP) | Semidominant inheritance | Linkage mapping | MEDICINE, RESEARCH & EXPERIMENTAL | PREVALENCE | IDENTIFICATION | DISEASE-CAUSING MUTATIONS | DEGENERATION | RPGR | CELL BIOLOGY | GENES | OPHTHALMOLOGY
Journal Article
BMC Bioinformatics, ISSN 1471-2105, 03/2017, Volume 18, Issue 1, pp. 147 - 147
Background: Targeted next-generation sequencing (NGS) has been widely used as a cost-effective way to identify the genetic basis of human disorders. Copy... 
Copy number variation | Next-generation sequencing | Maximum penalized likelihood estimation | SUSCEPTIBILITY | BIOCHEMICAL RESEARCH METHODS | HIDDEN MARKOV MODEL | HUMAN GENOME | GENE | MOLECULAR DIAGNOSIS | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | HIGH-RESOLUTION | DISEASE | MATHEMATICAL & COMPUTATIONAL BIOLOGY | SEGMENTAL DUPLICATIONS | STRUCTURAL VARIATION | RETINITIS-PIGMENTOSA | Likelihood Functions | Humans | Sensitivity and Specificity | Software | Genome, Human | High-Throughput Nucleotide Sequencing - methods | Sequence Analysis, DNA - methods | DNA Copy Number Variations | Cytogenetics | Usage | Research | Nucleotide sequencing | Copy number variations | DNA sequencing | Markov process | Fidelity | Intelligence | Segmentation | Identification methods | Copy number | Genes | Burrows | Lung | Lung cancer | Genomes | Decomposition | Hybridization | Population genetics | Bacterial artificial chromosomes | Dissolved organic carbon | Epidermal growth factor | Genetics | Mathematical models | Bioinformatics | Deoxyribonucleic acid--DNA | Breakpoints | Statistical analysis | Nucleotide sequence | Introns | Principal components analysis | Nucleic acids | Computer programs | Sensitivity | Algorithms | DNA microarrays | Mutation | Gene mapping | Artificial intelligence | Bayesian analysis | Methods | Cancer | Index Medicus
Journal Article
Journal Article
Journal Article
Molecular Genetics and Metabolism Reports, ISSN 2214-4269, 12/2016, Volume 9, pp. 75 - 78
Peroxisomal biogenesis disorders (PBD) are caused by mutations in genes, and are typically diagnosed with biochemical testing in plasma followed by... 
Peroxisomal biogenesis disorders | PEX1 p.G843D | Zellweger syndrome spectrum | Usher syndrome | ZELLWEGER-SYNDROME SPECTRUM | BIOGENESIS DISORDERS | FATTY-ACIDS | X-LINKED ADRENOLEUKODYSTROPHY | IDENTIFICATION | PROLONGED SURVIVAL | PEX1 MUTATIONS | MOLECULAR DIAGNOSIS | DISEASE | GENETICS & HEREDITY | RETINITIS-PIGMENTOSA
Journal Article
Investigative Ophthalmology and Visual Science, ISSN 0146-0404, 09/2016, Volume 57, Issue 11, pp. 4814 - 4814
Journal Article
Ophthalmic Surgery Lasers and Imaging Retina, ISSN 2325-8160, 06/2016, Volume 47, Issue 6, pp. 574 - 579
Journal Article
PLoS ONE, 03/2016, Volume 11, Issue 3
Background Retinitis pigmentosa is a phenotype with diverse genetic causes. Due to this genetic heterogeneity, genome-wide identification and analysis of... 
Journal Article
Investigative Opthalmology & Visual Science, ISSN 1552-5783, 02/2016, Volume 57, Issue 2, p. 349
Journal Article
Investigative Ophthalmology and Visual Science, ISSN 0146-0404, 02/2016, Volume 57, Issue 2, pp. 349 - 359
PURPOSE. We determined the phenotypic variation, disease progression, and potential modifiers of autosomal dominant retinal dystrophies caused by a splice site... 
Genetic modifiers |