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Genetic linkage of Francois-Neetens fleck (mouchetée) corneal dystrophy to chromosome 2q35.
- Published in:
- Human Genetics, 2003, v. 112, n. 5/6, p. 593, doi. 10.1007/s00439-002-0905-1
- By:
- Publication type:
- Article
Allelic and locus heterogeneity in autosomal recessive gelatinous drop-like corneal dystrophy.
- Published in:
- Human Genetics, 2002, v. 110, n. 6, p. 568, doi. 10.1007/s00439-002-0729-z
- By:
- Publication type:
- Article
IROme, a new high-throughput molecular tool for the diagnosis of inherited retinal dystrophies.
- Published in:
- 2013
- By:
- Publication type:
- Journal Article
IROme, a New High-Throughput Molecular Tool for the Diagnosis of Inherited Retinal Dystrophies.
- Published in:
- BioMed Research International, 2013, v. 2013, p. 1, doi. 10.1155/2013/198089
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- Publication type:
- Article
Incomplete Recovery of Zebrafish Retina Following Cryoinjury.
- Published in:
- Cells (2073-4409), 2022, v. 11, n. 8, p. 1373, doi. 10.3390/cells11081373
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- Publication type:
- Article
Rearrangements of minisatellites in the human telomerase reverse transcriptase gene are not correlated with its expression in colon carcinomas.
- Published in:
- Oncogene, 2001, v. 20, n. 20, p. 2600, doi. 10.1038/sj.onc.1204346
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- Publication type:
- Article
Cell-Permeable Peptide Inhibitors of JNK.
- Published in:
- Diabetes, 2001, v. 50, n. 1, p. 77, doi. 10.2337/diabetes.50.1.77
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- Publication type:
- Article
Clinical and genetic investigation of a large Tunisian family with complete achromatopsia: identification of a new nonsense mutation in GNAT2 gene.
- Published in:
- Journal of Human Genetics, 2011, v. 56, n. 1, p. 22, doi. 10.1038/jhg.2010.128
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- Publication type:
- Article
Enrichment of pathogenic alleles in the brittle cornea gene, ZNF469, in keratoconus.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 20, p. 5527, doi. 10.1093/hmg/ddu253
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- Publication type:
- Article
The cataract and glucosuria associated monocarboxylate transporter MCT12 is a new creatine transporter.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 16, p. 3218, doi. 10.1093/hmg/ddt175
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- Publication type:
- Article
ALDH1A3 loss of function causes bilateral anophthalmia/microphthalmia and hypoplasia of the optic nerve and optic chiasm.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 16, p. 3250, doi. 10.1093/hmg/ddt179
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- Publication type:
- Article
Contribution of Whole-Genome Sequencing and Transcript Analysis to Decipher Retinal Diseases Associated with MFSD8 Variants.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 8, p. 4294, doi. 10.3390/ijms23084294
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- Publication type:
- Article
Correction: Habibi I. et al. "Clinical and Genetic Findings of Autosomal Recessive Bestrophinopathy (ARB)" Genes, 2019, 10, 953.
- Published in:
- 2020
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- Publication type:
- Correction Notice
Clinical and Genetic Findings of Autosomal Recessive Bestrophinopathy (ARB).
- Published in:
- Genes, 2019, v. 10, n. 12, p. 953, doi. 10.3390/genes10120953
- By:
- Publication type:
- Article
Reduced metabolic function and structural alterations in inherited retinal dystrophies: investigating the effect of peripapillary vessel oxygen saturation and vascular diameter on the retinal nerve fibre layer thickness.
- Published in:
- Acta Ophthalmologica (1755375X), 2017, v. 95, n. 3, p. 252, doi. 10.1111/aos.13247
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- Publication type:
- Article
Metabolic and functional changes in retinitis pigmentosa: comparing retinal vessel oximetry to full-field electroretinography, electrooculogram and multifocal electroretinography.
- Published in:
- Acta Ophthalmologica (1755375X), 2016, v. 94, n. 3, p. e231, doi. 10.1111/aos.12846
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- Publication type:
- Article
Retinal vessel oxygen saturation and its correlation with structural changes in retinitis pigmentosa.
- Published in:
- Acta Ophthalmologica (1755375X), 2014, v. 92, n. 5, p. 454, doi. 10.1111/aos.12379
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- Publication type:
- Article
Zebrafish: Housing and husbandry recommendations.
- Published in:
- Laboratory Animals, 2020, v. 54, n. 3, p. 213, doi. 10.1177/0023677219869037
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- Publication type:
- Article
667. Lentiviral Gene Transfer of RPE65 cDNA in Knock-Out Mouse Models of Leber Congenital Amaurosis
- Published in:
- 2005
- By:
- Publication type:
- Abstract
Phenotypic Progression of Stargardt Disease in a Large Consanguineous Tunisian Family Harboring New ABCA4 Mutations.
- Published in:
- Journal of Ophthalmology, 2018, p. 1, doi. 10.1155/2018/1030184
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- Publication type:
- Article
Prenatal diagnosis of lamellar ichthyosis by direct mutational analysis of the keratinocyte transglutaminase gene.
- Published in:
- 1997
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- Publication type:
- journal article
Prenatal diagnosis and investigation of a fetus with chondrodysplasia punctata, ichthyosis, and Kallmann syndrome due to an Xp deletion.
- Published in:
- 1992
- By:
- Publication type:
- journal article
Genetic spectrum of retinal dystrophies in Tunisia.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-67792-y
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- Publication type:
- Article
A Dimerized HMX1 Inhibits <i>EPHA6</i>/<i>epha4b</i> in Mouse and Zebrafish Retinas.
- Published in:
- PLoS ONE, 2014, v. 9, n. 6, p. 1, doi. 10.1371/journal.pone.0100096
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- Publication type:
- Article
Dental Phenotype in Jalili Syndrome Due to a c.1312 dupC Homozygous Mutation in the <i>CNNM4</i> Gene.
- Published in:
- PLoS ONE, 2013, v. 8, n. 10, p. 1, doi. 10.1371/journal.pone.0078529
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- Publication type:
- Article
Autophagy Defect Is Associated with Low Glucose-Induced Apoptosis in 661W Photoreceptor Cells.
- Published in:
- PLoS ONE, 2013, v. 8, n. 9, p. 1, doi. 10.1371/journal.pone.0074162
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- Publication type:
- Article
Analysis of the Cytoprotective Role of α-Crystallins in Cell Survival and Implication of the αA-Crystallin C-Terminal Extension Domain in Preventing Bax-Induced Apoptosis.
- Published in:
- PLoS ONE, 2013, v. 8, n. 2, p. 1, doi. 10.1371/journal.pone.0055372
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- Publication type:
- Article
Acute Hypoglycemia Induces Retinal Cell Death in Mouse.
- Published in:
- PLoS ONE, 2011, v. 6, n. 6, p. 1, doi. 10.1371/journal.pone.0021586
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- Publication type:
- Article
A Male with Unilateral Microphthalmia Reveals a Role for TMX3 in Eye Development.
- Published in:
- PLoS ONE, 2010, v. 5, n. 5, p. 1, doi. 10.1371/journal.pone.0010565
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- Publication type:
- Article
Mutations in the DNA-Binding Domain of NR2E3 Affect In Vivo Dimerization and Interaction with CRX.
- Published in:
- PLoS ONE, 2009, v. 4, n. 10, p. 1, doi. 10.1371/journal.pone.0007379
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- Publication type:
- Article
Bax-Induced Apoptosis in Leber's Congenital Amaurosis: A Dual Role in Rod and Cone Degeneration.
- Published in:
- PLoS ONE, 2009, v. 4, n. 8, p. 1, doi. 10.1371/journal.pone.0006616
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- Publication type:
- Article
Adrenal Mass in Carney Triad.
- Published in:
- International Journal on Disability & Human Development (De Gruyter), 2001, v. 2, n. 4, p. 229, doi. 10.1515/ijdhd.2001.2.4.229
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- Publication type:
- Article
The gene mutated in thiamine-responsive anaemia with diabetes and deafness (TRMA) encodes a functional thiamine transporter.
- Published in:
- Nature Genetics, 1999, v. 22, n. 3, p. 305, doi. 10.1038/10379
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- Publication type:
- Article
A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy.
- Published in:
- Nature Genetics, 1999, v. 22, n. 2, p. 199, doi. 10.1038/9722
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- Publication type:
- Article
Corrigendum: Identifying mutations in Tunisian families with retinal dystrophy.
- Published in:
- Scientific Reports, 2017, p. 46776, doi. 10.1038/srep46776
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- Publication type:
- Article
Identifying mutations in Tunisian families with retinal dystrophy.
- Published in:
- Scientific Reports, 2016, p. 37455, doi. 10.1038/srep37455
- By:
- Publication type:
- Article
Notch signaling in the pigmented epithelium of the anterior eye segment promotes ciliary body development at the expense of iris formation.
- Published in:
- Pigment Cell & Melanoma Research, 2014, v. 27, n. 4, p. 580, doi. 10.1111/pcmr.12236
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- Publication type:
- Article
Hmx1 regulates urfh1 expression in the craniofacial region in zebrafish.
- Published in:
- PLoS ONE, 2021, v. 16, n. 1, p. 1, doi. 10.1371/journal.pone.0245239
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- Publication type:
- Article
D-TAT transporter as an ocular peptide delivery system.
- Published in:
- Clinical & Experimental Ophthalmology, 2005, v. 33, n. 6, p. 628, doi. 10.1111/j.1442-9071.2005.01108.x
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- Publication type:
- Article
Fatal outcome in a female monozygotic twin with X-linked hypohydrotic ectodermal dysplasia (XLHED) due to a de novo t(X;9) translocation with probable disruption of the EDA gene.
- Published in:
- 2001
- By:
- Publication type:
- journal article
A characteristic EEG pattern in 4p-syndrome: case report and review of the literature.
- Published in:
- 2001
- By:
- Publication type:
- journal article
Bmil Loss Produces an Increase in Astroglial Cells and a Decrease in Neural Stem Cell Population and Proliferation.
- Published in:
- Journal of Neuroscience, 2005, v. 25, n. 24, p. 5774, doi. 10.1523/JNEUROSCI.3452-04.2005
- By:
- Publication type:
- Article
NR2E3 mutations in enhanced S-cone sensitivity syndrome (ESCS), Goldmann-Favre syndrome (GFS), clumped pigmentary retinal degeneration (CPRD), and retinitis pigmentosa (RP).
- Published in:
- 2009
- By:
- Publication type:
- Other
Mutations in NR2E3 can cause dominant or recessive retinal degenerations in the same family.
- Published in:
- Human Mutation, 2009, v. 30, n. 3, p. 342, doi. 10.1002/humu.20858
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- Publication type:
- Article
Novel mutations in FRMD7 in X-linked congenital nystagmus.
- Published in:
- Human Mutation, 2007, v. 28, n. 5, p. 525, doi. 10.1002/humu.9492
- By:
- Publication type:
- Article
A subset of patients with epithelial basement membrane corneal dystrophy have mutations in TGFBI/BIGH3.
- Published in:
- Human Mutation, 2006, v. 27, n. 6, p. 553, doi. 10.1002/humu.20331
- By:
- Publication type:
- Article
Large Family With Maturity-Onset Diabetes of the Young and a Novel V121I Mutation in HNF4A.
- Published in:
- Human Mutation, 2002, v. 20, n. 3, p. 230, doi. 10.1002/humu.9050
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- Publication type:
- Article
Identification of novel PAX6 mutations in two families with bilateral aniridia.
- Published in:
- Human Mutation, 1998, v. 12, n. 2, p. 138, doi. 10.1002/(SICI)1098-1004(1998)12:2<138::AID-HUMU18>3.0.CO;2-A
- By:
- Publication type:
- Article
5'AMP-activated protein kinase α deficiency enhances stress-induced apoptosis in BHK and PC12 cells.
- Published in:
- Journal of Cellular & Molecular Medicine, 2007, v. 11, n. 2, p. 286, doi. 10.1111/j.1582-4934.2007.00023.x
- By:
- Publication type:
- Article
A peptide inhibitor of c-Jun N-terminal kinase protects against excitotoxicity and cerebral ischemia.
- Published in:
- Nature Medicine, 2003, v. 9, n. 9, p. 1180, doi. 10.1038/nm911
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- Publication type:
- Article