Found: 51
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Morning glory disc anomaly, midline cranial defects and abnormal carotid circulation: an association worth looking for.
- Published in:
- 2005
- By:
- Publication type:
- journal article
Recent advances in the molecular basis of inherited photoreceptor degeneration.
- Published in:
- Clinical Genetics, 2000, v. 57, n. 5, p. 313, doi. 10.1034/j.1399-0004.2000.570501.x
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- Publication type:
- Article
Novel OPN1LW/OPN1MW Exon 3 Haplotype-Associated Splicing Defect in Patients with X-Linked Cone Dysfunction.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 12, p. 6868, doi. 10.3390/ijms23126868
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- Publication type:
- Article
Healthcare recommendations for Joubert syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 1, p. 229, doi. 10.1002/ajmg.a.61399
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- Publication type:
- Article
Agenesis of the corpus callosum, developmental delay, autism spectrum disorder, facial dysmorphism, and posterior polymorphous corneal dystrophy associated with ZEB1 gene deletion.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 9, p. 2467, doi. 10.1002/ajmg.a.38321
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- Publication type:
- Article
Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis.
- Published in:
- Nature Genetics, 2012, v. 44, n. 9, p. 972, doi. 10.1038/ng.2370
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- Publication type:
- Article
Mutations in MKKS cause Bardet-Biedl syndrome.
- Published in:
- Nature Genetics, 2000, v. 26, n. 1, p. 15, doi. 10.1038/79116
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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
Unique retinal signaling defect in GNB5-related disease.
- Published in:
- Documenta Ophthalmologica, 2020, v. 140, n. 3, p. 273, doi. 10.1007/s10633-019-09735-1
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- Publication type:
- Article
The role of MR imaging in investigating isolated pediatric nystagmus.
- Published in:
- 2016
- By:
- Publication type:
- journal article
A small grant funding program to promote innovation at an academic research hospital.
- Published in:
- 2015
- By:
- Publication type:
- journal article
Pupillary reflex dilation and skin temperature to assess sensory level during combined general and caudal anesthesia in children.
- Published in:
- Pediatric Anesthesia, 2004, v. 14, n. 9, p. 768, doi. 10.1111/j.1460-9592.2004.01308.x
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- Publication type:
- Article
Sleep and daytime sleepiness in retinitis pigmentosa patients.
- Published in:
- Journal of Sleep Research, 2001, v. 10, n. 4, p. 329, doi. 10.1046/j.1365-2869.2001.00271.x
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- Publication type:
- Article
A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 10, p. 1318, doi. 10.1038/ejhg.2014.283
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- Publication type:
- Article
Prenatal growth restriction, retinal dystrophy, diabetes insipidus and white matter disease: expanding the spectrum of PRPS1-related disorders.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 3, p. 310, doi. 10.1038/ejhg.2014.112
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- Publication type:
- Article
Detailed Clinical Phenotype and Molecular Genetic Findings in CLN3-Associated Isolated Retinal Degeneration.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Intra-arterial Chemotherapy for Retinoblastoma: A Systematic Review.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Phenotypic Overlap Between Familial Exudative Vitreoretinopathy and Microcephaly, Lymphedema, and Chorioretinal Dysplasia Caused by KIF11 Mutations.
- Published in:
- JAMA Ophthalmology, 2014, v. 132, n. 12, p. 1393, doi. 10.1001/jamaophthalmol.2014.2814
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- Publication type:
- Article
Deep intronic variant in MVK as a cause for mevalonic aciduria initially presenting as non‐syndromic retinitis pigmentosa.
- Published in:
- Clinical Genetics, 2022, v. 102, n. 6, p. 524, doi. 10.1111/cge.14207
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- Publication type:
- Article
Retrotransposon insertion as a novel mutational event in Bardet‐Biedl syndrome.
- Published in:
- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 2, p. N.PAG, doi. 10.1002/mgg3.521
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- Publication type:
- Article
Prosthetic conformers: a step towards improved rehabilitation of enucleated children.
- Published in:
- Clinical & Experimental Ophthalmology, 2002, v. 30, n. 1, p. 58, doi. 10.1046/j.1442-9071.2002.00472.x
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- Publication type:
- Article
COG5 variants lead to complex early onset retinal degeneration, upregulation of PERK and DNA damage.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-77394-3
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- Publication type:
- Article
large animal model of RDH5-associated retinopathy recapitulates important features of the human phenotype.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 8, p. 1263, doi. 10.1093/hmg/ddab316
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- Publication type:
- Article
Variegated yet non-random rod and cone photoreceptor disease patterns in RPGR-ORF15-associated retinal degeneration.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 1, p. 175, doi. 10.1093/hmg/ddy342
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- Publication type:
- Article
Abnormal creatine transport of mutations in monocarboxylate transporter 12 (MCT12) found in patients with age-related cataract can be partially rescued by exogenous chaperone CD147.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 21, p. 4203, doi. 10.1093/hmg/ddx310
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- Publication type:
- Article
Variegated yet non-random rod and cone photoreceptor disease patterns in RPGR-ORF15-associated retinal degeneration.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 24, p. 5444, doi. 10.1093/hmg/ddw361
- By:
- Publication type:
- Article
Mutations in C8ORF37 cause Bardet Biedl syndrome (BBS21).
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 11, p. 2283, doi. 10.1093/hmg/ddw096
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- Publication type:
- Article
Determining consequences of retinal membrane guanylyl cyclase (RetGC1) deficiency in human Leber congenital amaurosis en route to therapy: residual cone-photoreceptor vision correlates with biochemical properties of the mutants.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 1, p. 168, doi. 10.1093/hmg/dds421
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- Publication type:
- Article
Clinical phenotype of posterior polymorphous corneal dystrophy in a family with a novel ZEB1 mutation.
- Published in:
- Acta Ophthalmologica (1755375X), 2010, v. 88, n. 6, p. 695, doi. 10.1111/j.1755-3768.2009.01511.x
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- Publication type:
- Article
Confirmation of the OVOL2 Promoter Mutation c.-307T>C in Posterior Polymorphous Corneal Dystrophy 1.
- Published in:
- PLoS ONE, 2017, v. 12, n. 1, p. 1, doi. 10.1371/journal.pone.0169215
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- Publication type:
- Article
Dysfunctional LAT2 Amino Acid Transporter Is Associated With Cataract in Mouse and Humans.
- Published in:
- Frontiers in Physiology, 2019, p. N.PAG, doi. 10.3389/fphys.2019.00688
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- Publication type:
- Article
Brief Communications.
- Published in:
- Journal of Child Neurology, 2003, v. 18, n. 3, p. 217
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- Publication type:
- Article
Mutations in a Guanylate Cyclase GCY-35/GCY-36 Modify Bardet-Biedl Syndrome--Associated Phenotypes in Caenorhabditis elegans.
- Published in:
- PLoS Genetics, 2011, v. 7, n. 10, p. 1, doi. 10.1371/journal.pgen.1002335
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- Publication type:
- Article
An Essential Role for DYF-11/MIP-T3 in Assembling Functional Intraflagellar Transport Complexes.
- Published in:
- PLoS Genetics, 2008, v. 4, n. 3, p. 1, doi. 10.1371/journal.pgen.1000044
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- Publication type:
- Article
Tissue‐specific genotype–phenotype correlations among USH2A‐related disorders in the RUSH2A study.
- Published in:
- Human Mutation, 2022, v. 43, n. 5, p. 613, doi. 10.1002/humu.24365
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- Publication type:
- Article
BBS7 and TTC8 ( BBS8) mutations play a minor role in the mutational load of Bardet-Biedl syndrome in a multiethnic population.
- Published in:
- Human Mutation, 2009, v. 30, n. 7, p. E737, doi. 10.1002/humu.21040
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- Publication type:
- Article
The State of Patient-Reported Outcome Measures for Pediatric Patients with Inherited Retinal Disease.
- Published in:
- Ophthalmology & Therapy, 2022, v. 11, n. 3, p. 1031, doi. 10.1007/s40123-022-00514-x
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- Publication type:
- Article
Identification of a novel adult-onset primary open-angle glaucoma (POAG) gene on 5q22.1.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 6, p. 725, doi. 10.1093/hmg/ddi068
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- Publication type:
- Article
VSX1: A gene for posterior polymorphous dystrophy and keratoconus.
- Published in:
- Human Molecular Genetics, 2002, v. 11, n. 9, p. 1029, doi. 10.1093/hmg/11.9.1029
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- Publication type:
- Article
Domain disruption and mutation of the bZIP transcriptionfactor, MAF,associated with cataract, ocularanterior segment dysgenesis and coloboma.
- Published in:
- Human Molecular Genetics, 2002, v. 11, n. 1, p. 33, doi. 10.1093/hmg/11.1.33
- By:
- Publication type:
- Article
Functional analyses of two newly identified PITX2 mutants reveal a novel molecular mechanism for Axenfeld-Rieger syndrome.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 16, p. 1631, doi. 10.1093/hmg/10.16.1631
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- Publication type:
- Article
Positional cloning of a novel gene on chromosome 16q causing Bardet–Biedl syndrome (BBS2).
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 8, p. 865, doi. 10.1093/hmg/10.8.865
- By:
- Publication type:
- Article
Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2).
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 8, p. 865, doi. 10.1093/hmg/10.8.865
- By:
- Publication type:
- Article
Optic Atrophy and Inner Retinal Thinning in CACNA1F -Related Congenital Stationary Night Blindness.
- Published in:
- Genes, 2021, v. 12, n. 3, p. 330, doi. 10.3390/genes12030330
- By:
- Publication type:
- Article
EYS Mutations Causing Autosomal Recessive Retinitis Pigmentosa: Changes of Retinal Structure and Function with Disease Progression.
- Published in:
- Genes, 2017, v. 8, n. 7, p. 178, doi. 10.3390/genes8070178
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- Publication type:
- Article
Spondyloocular Syndrome: Novel Mutations in XYLT2 Gene and Expansion of the Phenotypic Spectrum.
- Published in:
- Journal of Bone & Mineral Research, 2016, v. 31, n. 8, p. 1577, doi. 10.1002/jbmr.2834
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- Publication type:
- Article
Scaling up Functional Analyses of the G Protein-Coupled Receptor Rhodopsin.
- Published in:
- Journal of Molecular Evolution, 2024, v. 92, n. 1, p. 61, doi. 10.1007/s00239-024-10154-3
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- Publication type:
- Article
Mutation analysis of the tyrosinase gene in oculocutaneous albinism.
- Published in:
- Human Mutation, 2001, v. 17, n. 4, p. 352, doi. 10.1002/humu.38
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- Publication type:
- Article
Analysis of myocilin mutations in 1703 glaucoma patients from five different populations.
- Published in:
- Human Molecular Genetics, 1999, v. 8, n. 5, p. 899, doi. 10.1093/hmg/8.5.899
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- Publication type:
- Article
Linkage of autosomal dominant iris hypoplasia to the region of the Rieger syndrome locus (4q25).
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 8, p. 1435
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- Publication type:
- Article