Database : MEDLINE
Search on : Retinal and Dystrophies [Words]
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[PMID]: 29483694
[Au] Autor:Benfenati F; Lanzani G
[Ad] Address:Center for Synaptic Neuroscience and Technology, Istituto Italiano di Tecnologia, Genoa, Italy. Fabio.Benfenati@iit.it.
[Ti] Title:New technologies for developing second generation retinal prostheses.
[So] Source:Lab Anim (NY);47(3):71-75, 2018 Mar.
[Is] ISSN:1548-4475
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Inherited or age-dependent retinal dystrophies such as Retinitis pigmentosa (RP) and macular degeneration (MD) are among the most prevalent causes of blindness. Despite enormous efforts, no established pharmacological treatment to prevent or cure photoreceptor degeneration has been identified. Given the relative survival of the inner retina, attempts have been made to restore vision with optogenetics or with retinal neuroprostheses to allow light-dependent stimulation of the inner retinal network. While microelectrode and photovoltaic devices based on inorganic technologies have been proposed and in many cases implanted in RP patients, a new generation of prosthetics based on organic molecules, such as organic photoswitches and conjugated polymers, is demonstrating an unexpected potential for visual rescue and intimate interactions with functioning tissue. Organic devices are starting a new era of tissue electronics, in which light-sensitive molecules and live tissues integrate and tightly interact, producing a new ecosystem of organic prosthetics and intelligent biotic/abiotic interfaces. In addition to the retina, the applications of these interfaces might be extended in the future to other biomedical fields.
[Pt] Publication type:JOURNAL ARTICLE; REVIEW
[Em] Entry month:1802
[Cu] Class update date: 180310
[Lr] Last revision date:180310
[St] Status:In-Data-Review
[do] DOI:10.1038/s41684-018-0003-1

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[PMID]: 28456785
[Au] Autor:Huang H; Wang Y; Chen H; Chen Y; Wu J; Chiang PW; Fan N; Su Y; Deng J; Chen D; Li Y; Zhang X; Zhang M; Liang S; Banerjee S; Qi M; Liu X
[Ad] Address:BGI-Shenzhen, Shenzhen, China.
[Ti] Title:Targeted next generation sequencing identified novel mutations in RPGRIP1 associated with both retinitis pigmentosa and Leber's congenital amaurosis in unrelated Chinese patients.
[So] Source:Oncotarget;8(21):35176-35183, 2017 May 23.
[Is] ISSN:1949-2553
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:As the most common inherited retinal degenerations, retinitis pigmentosa (RP) is clinically and genetically heterogeneous. Some of the RP genes are also associated with other retinal diseases, such as LCA (Leber's congenital amaurosis) and CORD (cone-rod dystrophy). Here, in our molecular diagnosis of 99 Chinese RP patients using targeted gene capture sequencing, three probands were found to carry mutations of RPGRIP1, which was known to be associated with pathogenesis of LCA and CORD. By further clinical analysis, two probands were confirmed to be RP patients and one was confirmed to be LCA patient. These novel mutations were co-segregated with the disease phenotype in their families. Our result not only expands the mutational spectrum of the RPGRIP1 gene but also gives supports to clinical diagnosis and molecular treatment of RP patients.
[Mh] MeSH terms primary: Asian Continental Ancestry Group/genetics
High-Throughput Nucleotide Sequencing/methods
Leber Congenital Amaurosis/genetics
Mutation
Proteins/genetics
Retinitis Pigmentosa/genetics
[Mh] MeSH terms secundary: Adult
China
Female
Genetic Association Studies
Genetic Predisposition to Disease
Humans
Male
Pedigree
Young Adult
[Pt] Publication type:JOURNAL ARTICLE
[Nm] Name of substance:0 (Proteins); 0 (RPGRIP1 protein, human)
[Em] Entry month:1803
[Cu] Class update date: 180309
[Lr] Last revision date:180309
[Js] Journal subset:IM
[Da] Date of entry for processing:170501
[St] Status:MEDLINE
[do] DOI:10.18632/oncotarget.17052

  3 / 10778 MEDLINE  
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[PMID]: 29520006
[Au] Autor:Ferlauto L; Airaghi Leccardi MJI; Chenais NAL; Gilliéron SCA; Vagni P; Bevilacqua M; Wolfensberger TJ; Sivula K; Ghezzi D
[Ad] Address:Medtronic Chair in Neuroengineering, Center for Neuroprosthetics, Institute of Bioengineering, School of Engineering, École Polytechnique Fédérale de Lausanne, Lausanne, Switzerland.
[Ti] Title:Design and validation of a foldable and photovoltaic wide-field epiretinal prosthesis.
[So] Source:Nat Commun;9(1):992, 2018 Mar 08.
[Is] ISSN:2041-1723
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:Retinal prostheses have been developed to fight blindness in people affected by outer retinal layer dystrophies. To date, few hundred patients have received a retinal implant. Inspired by intraocular lenses, we have designed a foldable and photovoltaic wide-field epiretinal prosthesis (named POLYRETINA) capable of stimulating wireless retinal ganglion cells. Here we show that within a visual angle of 46.3 degrees, POLYRETINA embeds 2215 stimulating pixels, of which 967 are in the central area of 5 mm, it is foldable to allow implantation through a small scleral incision, and it has a hemispherical shape to match the curvature of the eye. We demonstrate that it is not cytotoxic and respects optical and thermal safety standards; accelerated ageing shows a lifetime of at least 2 years. POLYRETINA represents significant progress towards the improvement of both visual acuity and visual field with the same device, a current challenging issue in the field.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180309
[Lr] Last revision date:180309
[St] Status:In-Data-Review
[do] DOI:10.1038/s41467-018-03386-7

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[PMID]: 29514656
[Au] Autor:Barben M; Schori C; Samardzija M; Grimm C
[Ad] Address:Laboratory for Retinal Cell Biology, Department of Ophthalmology, University Hospital Zurich, University of Zurich, Zurich, Switzerland.
[Ti] Title:Targeting Hif1a rescues cone degeneration and prevents subretinal neovascularization in a model of chronic hypoxia.
[So] Source:Mol Neurodegener;13(1):12, 2018 Mar 07.
[Is] ISSN:1750-1326
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:BACKGROUND: Degeneration of cone photoreceptors leads to loss of vision in patients suffering from age-related macular degeneration (AMD) and other cone dystrophies. Evidence, such as choroidal ischemia and decreased choroidal blood flow, implicates reduced tissue oxygenation in AMD pathology and suggests a role of the cellular response to hypoxia in disease onset and progression. Such a chronic hypoxic situation may promote several cellular responses including stabilization of hypoxia-inducible factors (HIFs). METHODS: To investigate the consequence of a chronic activation of the molecular response to hypoxia in cones, von Hippel Lindau protein (VHL) was specifically ablated in cones of the all-cone R91W;Nrl mouse. Retinal function and morphology was evaluated by ERG and light microscopy, while differential gene expression was tested by real-time PCR. Retinal vasculature was analyzed by immunostainings and fluorescein angiography. Two-way ANOVA with Sídák's multiple comparison test was performed for statistical analysis. RESULTS: Cone-specific ablation of Vhl resulted in stabilization and activation of hypoxia-inducible factor 1A (HIF1A) which led to increased expression of genes associated with hypoxia and retinal stress. Our data demonstrate severe cone degeneration and pathologic vessel growth, features that are central to AMD pathology. Subretinal neovascularization was accompanied by vascular leakage and infiltration of microglia cells. Interestingly, we observed increased expression of tissue inhibitor of metalloproteinase 3 (Timp3) during the aging process, a gene associated with AMD and Bruch's membrane integrity. Additional deletion of Hif1a protected cone cells, prevented pathological vessel growth and preserved vision. CONCLUSIONS: Our data provide evidence for a HIF1A-mediated mechanism leading to pathological vessel growth and cone degeneration in response to a chronic hypoxia-like situation. Consequently, our results identify HIF1A as a potential therapeutic target to rescue hypoxia-related vision loss in patients.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180308
[Lr] Last revision date:180308
[St] Status:In-Data-Review
[do] DOI:10.1186/s13024-018-0243-y

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[PMID]: 28471100
[Au] Autor:Kim JM; Kim JH; Chang YS; Kim JW; Kim CG; Lee DW
[Ad] Address:Department of Ophthalmology, Kim's Eye Hospital, Konyang University College of Medicine, Seoul, Korea.
[Ti] Title:Treatment of Bilateral Retinal Angiomatous Proliferation with Anti-vascular Endothelial Growth Factor: 12-Month Outcome.
[So] Source:Korean J Ophthalmol;31(3):240-248, 2017 Jun.
[Is] ISSN:2092-9382
[Cp] Country of publication:Korea (South)
[La] Language:eng
[Ab] Abstract:PURPOSE: To evaluate the 12-month outcome of intravitreal anti-vascular endothelial growth factor therapy in eyes with bilateral retinal angiomatous proliferation (RAP). METHODS: This retrospective observational study included 38 eyes of 19 patients with stage 1 or 2 bilateral RAP at diagnosis. The eyes of patients who exhibited different baseline best-corrected visual acuity (BCVA) values in both eyes were assigned to one of two groups-the better (n=13) and worse (n=13) visual acuity groups. The BCVA values in both groups were compared to those at baseline and at 12 months. In addition, the 12-month changes in BCVA were compared between the two groups. The association between the optical coherence tomography findings at diagnosis and the 12-month BCVA was also analyzed. RESULTS: The values of mean baseline and 12-month BCVA in the better visual acuity group (13 eyes) were 0.48 ± 0.19 and 0.58 ± 0.29, respectively, and those in the worse visual acuity group (13 eyes) were 0.83 ± 0.20 and 0.90 ± 0.31. The 12-month changes in BCVA were not significantly different between the two groups (p=0.786). Among the six patients with equivalent baseline BCVA in both eyes, four patients (66.7%) exhibited 1 to 2 lines or ≥3 lines of difference in BCVA between eyes at 12 months. Eyes without pigment epithelial detachment (PED) at diagnosis exhibited significantly better BCVA at 12 months than eyes with PED (p=0.021). CONCLUSIONS: Better baseline visual acuity was associated with better BCVA at 12 months posttreatment in patients with bilateral RAP. However, equivalent baseline visual acuity in both eyes might not guarantee similar treatment outcomes. In addition, the absence of PED is predictive of better visual outcome.
[Mh] MeSH terms primary: Bevacizumab/administration & dosage
Choroidal Neovascularization/drug therapy
Macular Degeneration/drug therapy
Ranibizumab/administration & dosage
Visual Acuity
[Mh] MeSH terms secundary: Aged
Angiogenesis Inhibitors/administration & dosage
Choroidal Neovascularization/diagnosis
Female
Fluorescein Angiography
Follow-Up Studies
Fundus Oculi
Humans
Intravitreal Injections
Macular Degeneration/diagnosis
Male
Retinal Pigment Epithelium
Retrospective Studies
Time Factors
Tomography, Optical Coherence
Treatment Outcome
Vascular Endothelial Growth Factor A/antagonists & inhibitors
[Pt] Publication type:JOURNAL ARTICLE; OBSERVATIONAL STUDY
[Nm] Name of substance:0 (Angiogenesis Inhibitors); 0 (Vascular Endothelial Growth Factor A); 2S9ZZM9Q9V (Bevacizumab); ZL1R02VT79 (Ranibizumab)
[Em] Entry month:1710
[Cu] Class update date: 180308
[Lr] Last revision date:180308
[Js] Journal subset:IM
[Da] Date of entry for processing:170505
[St] Status:MEDLINE
[do] DOI:10.3341/kjo.2016.0026

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[PMID]: 29500375
[Au] Autor:Mazzaferri J; Larrivée B; Cakir B; Sapieha P; Costantino S
[Ad] Address:Research Center of the Maisonneuve-Rosemont Hospital, Montreal, Quebec, Canada.
[Ti] Title:A machine learning approach for automated assessment of retinal vasculature in the oxygen induced retinopathy model.
[So] Source:Sci Rep;8(1):3916, 2018 Mar 02.
[Is] ISSN:2045-2322
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:Preclinical studies of vascular retinal diseases rely on the assessment of developmental dystrophies in the oxygen induced retinopathy rodent model. The quantification of vessel tufts and avascular regions is typically computed manually from flat mounted retinas imaged using fluorescent probes that highlight the vascular network. Such manual measurements are time-consuming and hampered by user variability and bias, thus a rapid and objective method is needed. Here, we introduce a machine learning approach to segment and characterize vascular tufts, delineate the whole vasculature network, and identify and analyze avascular regions. Our quantitative retinal vascular assessment (QuRVA) technique uses a simple machine learning method and morphological analysis to provide reliable computations of vascular density and pathological vascular tuft regions, devoid of user intervention within seconds. We demonstrate the high degree of error and variability of manual segmentations, and designed, coded, and implemented a set of algorithms to perform this task in a fully automated manner. We benchmark and validate the results of our analysis pipeline using the consensus of several manually curated segmentations using commonly used computer tools. The source code of our implementation is released under version 3 of the GNU General Public License ( https://www.mathworks.com/matlabcentral/fileexchange/65699-javimazzaf-qurva ).
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180307
[Lr] Last revision date:180307
[St] Status:In-Data-Review
[do] DOI:10.1038/s41598-018-22251-7

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[PMID]: 29378559
[Au] Autor:Anil K; Garip G
[Ad] Address:University of Derby Online Learning, Derby, England, United Kingdom. k.anil@soton.ac.uk.
[Ti] Title:Coping strategies, vision-related quality of life, and emotional health in managing retinitis pigmentosa: a survey study.
[So] Source:BMC Ophthalmol;18(1):21, 2018 Jan 30.
[Is] ISSN:1471-2415
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:BACKGROUND: Retinitis pigmentosa is a group of genetic progressive retinal dystrophies that may adversely affect daily life. Those with RP should develop adaptive coping strategies to manage their condition. This study investigates the relationship between engaging (ECS) and disengaging coping strategies (DCS), vision-related quality of life (VRQoL), and emotional health, in adults living at home with retinitis pigmentosa. METHOD: One hundred and five participants (70 female; mean of 46.98, SD = 13.77) completed a cross-sectional survey. The questionnaire booklet consisted of the Coping Strategies Inventory - Short Form (32 items), the National Eye Institute Visual Functioning Questionnaire 25 (25 items), Marylands Trait Depression Scale (18 items), the Warwick-Edinburgh Mental Well-being Scale (14 items), and the Subjective Happiness Scale (4 items). RESULTS: Data was analysed with a two-block hierarchical multiple regression, with the first block controlling for the demographic data (age, sex, years since retinitis pigmentosa diagnosis, number of comorbidities, participant-perceived retinitis pigmentosa severity, and knowing RP type) and the second block consisting of primary measures (type of coping strategy, VRQoL, and Emotional Health). Type of coping strategy was found to impact psychosocial variables of VRQoL, not overall VRQoL. These psychosocial VRQoL variables had a positive association with ECS and a negative association with DCS. Emotional Health increased with ECS and decreased with DCS. There was a larger impact of DCS on VRQoL and Emotional Health compared to ECS, that is, VRQoL and Emotional Health decreased more with increasing DCS than VRQoL, and Emotional Health increased with increasing ECS. CONCLUSION: In concordance with previous research, ECS increased with increasing VRQoL and DCS decreased with increasing VRQoL. However, the findings also indicated that DCS had a greater impact than ECS on VRQoL and Emotional Health. This suggests that diminishing DCS should be prioritised over developing ECS to positively influence VRQoL and Emotional Health. Further research should investigate the impact of reducing DCS compared to increasing ECS, and how this may influence VRQoL and Emotional Health.
[Mh] MeSH terms primary: Adaptation, Psychological
Emotions
Mental Health
Quality of Life/psychology
Retinitis Pigmentosa/psychology
Surveys and Questionnaires
Visual Acuity
[Mh] MeSH terms secundary: Adolescent
Adult
Aged
Aged, 80 and over
Cross-Sectional Studies
Female
Humans
Male
Middle Aged
Retinitis Pigmentosa/diagnosis
Retinitis Pigmentosa/physiopathology
Self Report
Sickness Impact Profile
Visual Fields
Young Adult
[Pt] Publication type:COMPARATIVE STUDY; JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180305
[Lr] Last revision date:180305
[Js] Journal subset:IM
[Da] Date of entry for processing:180131
[St] Status:MEDLINE
[do] DOI:10.1186/s12886-018-0689-2

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[PMID]: 29368595
[Au] Autor:Park J; Lee M
[Ad] Address:Department of Ophthalmology, College of Medicine, Dankook University, 119, Dandae-ro, Dnognam-gu, Cheonan-si, Chungchungnam-do, Republic of Korea.
[Ti] Title:Short-term effects and safety of an acute increase of intraocular pressure after intravitreal bevacizumab injection on corneal endothelial cells.
[So] Source:BMC Ophthalmol;18(1):17, 2018 Jan 25.
[Is] ISSN:1471-2415
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:BACKGROUND: The purpose of this study is to evaluate short-term effects and safety of an acute increase of intraocular pressure (IOP) after single-dose intravitreal bevacizumab injection on corneal endothelial cells and central corneal thickness. METHODS: Forty-two patients who underwent intravitreal injection of 2.5 mg/0.1 ml bevacizumab because of central serous chorioretinopathy or diabetic macular edema were included in this study. The changes of IOP, corneal endothelial cells, and corneal thickness at baseline, 2 min, 5 min, and 30 min after injection were analyzed prospectively with a specular microscope. RESULTS: In all patients, the mean IOPs at baseline, 2 min, 5 min, and 30 min after injection were 11.48 ± 2.22 mmHg, 49.71 ± 10.73 mmHg, 37.64 ± 11.68 mmHg, and 14.88 ± 4.77 mmHg, respectively. These changes were significant (p < 0.01). In only one eye, IOP did not decrease to ≤30 mmHg even at 30 min after injection. According to changes in IOP with time, the coefficient of variation of the corneal endothelium significantly increased (p = 0.03), but cell density, hexagonality of the corneal endothelium, and central corneal thickness did not change (p = 0.79, 0.21, and 0.08, prospectively). One week after injection, there was no sign of inflammation or any other complications in all 42 eyes. CONCLUSIONS: After intravitreal injection, IOP rapidly increases, then decreases to the normal range in most eyes 30 min after injection and it is tolerable to corneal endothelium. TRIAL REGISTRATION: Clinical Research Information Service (CRiS), Republic of Korea, KCT0002645 . Retrospectively registered 9 January 2018.
[Mh] MeSH terms primary: Bevacizumab/adverse effects
Endothelium, Corneal/drug effects
Intraocular Pressure/drug effects
Macular Degeneration/drug therapy
Macular Edema/drug therapy
Ocular Hypertension/chemically induced
[Mh] MeSH terms secundary: Acute Disease
Angiogenesis Inhibitors/administration & dosage
Angiogenesis Inhibitors/adverse effects
Bevacizumab/administration & dosage
Endothelium, Corneal/pathology
Female
Follow-Up Studies
Humans
Incidence
Intraocular Pressure/physiology
Intravitreal Injections
Macular Degeneration/diagnosis
Macular Edema/diagnosis
Male
Middle Aged
Ocular Hypertension/epidemiology
Ocular Hypertension/physiopathology
Prospective Studies
Republic of Korea/epidemiology
Time Factors
Vascular Endothelial Growth Factor A/antagonists & inhibitors
[Pt] Publication type:CLINICAL TRIAL; JOURNAL ARTICLE
[Nm] Name of substance:0 (Angiogenesis Inhibitors); 0 (Vascular Endothelial Growth Factor A); 2S9ZZM9Q9V (Bevacizumab)
[Em] Entry month:1803
[Cu] Class update date: 180305
[Lr] Last revision date:180305
[Js] Journal subset:IM
[Da] Date of entry for processing:180126
[St] Status:MEDLINE
[do] DOI:10.1186/s12886-018-0682-9

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[PMID]: 29198644
[Au] Autor:Fuente García C; González-López JJ; Muñoz-Negrete FJ; Rebolleda G
[Ad] Address:Servicio de Oftalmología, Hospital Universitario Ramón y Cajal, Instituto Ramón y Cajal de Investigaciones Sanitarias (IRYCIS), Madrid, España.
[Ti] Title:La utilidad diagnóstica del electrorretinograma negativo. The diagnostic usefulness of the negative electroretinogram.
[So] Source:Arch Soc Esp Oftalmol;93(3):126-135, 2018 Mar.
[Is] ISSN:1989-7286
[Cp] Country of publication:Spain
[La] Language:eng; spa
[Ab] Abstract:The definition of the negative response of the full field electroretinogram is the presence of a b-wave with less amplitude than the a-wave (b/a ratio<1) in the combined response of cones and rods. The presence of this pattern reflects an alteration in the bipolar cells, the Müller cells, or in the transmission of the stimulus from the photoreceptors to the bipolar cells, with preserved photoreceptor function. This finding can be seen bilaterally and symmetrically in different hereditary conditions, such as congenital stationary night blindness, juvenile X-linked retinoschisis, and Duchenne and Becker muscular dystrophies. On the other hand, it can also be found unilaterally (or asymmetrically) in acquired pathologies, such as some types of immuno-mediated retinitis (Birdshot retinochoroiditis), autoimmune retinopathies, cancer/melanoma associated retinopathy, or retinal toxicity. The objective of this review is to summarise the characteristics of the pathologies in which this finding can be observed, in order to highlight its usefulness in the differential diagnosis of retinal conditions.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1712
[Cu] Class update date: 180227
[Lr] Last revision date:180227
[St] Status:In-Process

  10 / 10778 MEDLINE  
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[PMID]: 29184169
[Au] Autor:Nash BM; Symes R; Goel H; Dinger ME; Bennetts B; Grigg JR; Jamieson RV
[Ad] Address:Eye Genetics Research, The Children's Hospital at Westmead, Save Sight Institute, Children's Medical Research Institute, University of Sydney, Sydney, NSW, Australia.
[Ti] Title:NMNAT1 variants cause cone and cone-rod dystrophy.
[So] Source:Eur J Hum Genet;26(3):428-433, 2018 Mar.
[Is] ISSN:1476-5438
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:Cone and cone-rod dystrophies (CD and CRD, respectively) are degenerative retinal diseases that predominantly affect the cone photoreceptors. The underlying disease gene is not known in approximately 75% of autosomal recessive cases. Variants in NMNAT1 cause a severe, early-onset retinal dystrophy called Leber congenital amaurosis (LCA). We report two patients where clinical phenotyping indicated diagnoses of CD and CRD, respectively. NMNAT1 variants were identified, with Case 1 showing an extremely rare homozygous variant c.[271G > A] p.(Glu91Lys) and Case 2 compound heterozygous variants c.[53 A > G];[769G > A] p.(Asn18Ser);(Glu257Lys). The detailed variant analysis, in combination with the observation of an associated macular atrophy phenotype, indicated that these variants were disease-causing. This report demonstrates that the variants in NMNAT1 may cause CD or CRD associated with macular atrophy. Genetic investigations of the patients with CD or CRD should include NMNAT1 in the genes examined.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1711
[Cu] Class update date: 180227
[Lr] Last revision date:180227
[St] Status:In-Data-Review
[do] DOI:10.1038/s41431-017-0029-7


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