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The photoreceptor cell-specific nuclear receptor gene (PNR) accounts for retinitis pigmentosa in the Crypto-Jews from Portugal (Marranos), survivors from the Spanish Inquisition.
- Published in:
- Human Genetics, 2000, v. 107, n. 3, p. 276, doi. 10.1007/s004390000350
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- Publication type:
- Article
Objectivizing issues in the diagnosis of complex rare diseases: lessons learned from testing existing diagnosis support systems on ciliopathies.
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- BMC Medical Informatics & Decision Making, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12911-024-02538-8
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- Publication type:
- Article
Autosomal recessive Leber hereditary optic neuropathy, a new neuro-ophthalmo-genetic paradigm.
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- Brain: A Journal of Neurology, 2023, v. 146, n. 8, p. 3156, doi. 10.1093/brain/awad131
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- Article
Structural Variant Disrupting the Expression of the Remote FOXC1 Gene in a Patient with Syndromic Complex Microphthalmia.
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- International Journal of Molecular Sciences, 2024, v. 25, n. 5, p. 2669, doi. 10.3390/ijms25052669
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- Article
Congenital Microcoria: Clinical Features and Molecular Genetics.
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- Genes, 2021, v. 12, n. 5, p. 624, doi. 10.3390/genes12050624
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- Publication type:
- Article
MCAT Mutations Cause Nuclear LHON-like Optic Neuropathy.
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- Genes, 2021, v. 12, n. 4, p. 521, doi. 10.3390/genes12040521
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- Article
A Bibliometric and Citation Network Analysis of Myopia Genetics.
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- Genes, 2021, v. 12, n. 3, p. 447, doi. 10.3390/genes12030447
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- Article
The Genetic and Clinical Features of FOXL2 -Related Blepharophimosis, Ptosis and Epicanthus Inversus Syndrome.
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- Genes, 2021, v. 12, n. 3, p. 364, doi. 10.3390/genes12030364
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- Publication type:
- Article
Whole Locus Sequencing Identifies a Prevalent Founder Deep Intronic RPGRIP1 Pathologic Variant in the French Leber Congenital Amaurosis Cohort.
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- Genes, 2021, v. 12, n. 2, p. 287, doi. 10.3390/genes12020287
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- Publication type:
- Article
AON-Mediated Exon Skipping to Bypass Protein Truncation in Retinal Dystrophies Due to the Recurrent CEP290 c.4723A > T Mutation. Fact or Fiction?
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- Genes, 2019, v. 10, n. 5, p. 368, doi. 10.3390/genes10050368
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- Article
Autosomal recessive pathogenic MSTO1 variants in hereditary optic atrophy.
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- EMBO Molecular Medicine, 2023, v. 15, n. 8, p. 1, doi. 10.15252/emmm.202216090
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- Article
Intellectual disability associated with retinal dystrophy in the Xp11.3 deletion syndrome: ZNF674 on trial. Guilty or innocent?
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- European Journal of Human Genetics, 2012, v. 20, n. 3, p. 352, doi. 10.1038/ejhg.2011.217
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- Article
Population history and infrequent mutations: how old is a rare mutation? GUCY2D as a worked example.
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- European Journal of Human Genetics, 2008, v. 16, n. 1, p. 115, doi. 10.1038/sj.ejhg.5201905
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- Publication type:
- Article
Three different ABCA4 mutations in the same large family with several consanguineous loops affected with autosomal recessive cone–rod dystrophy.
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- European Journal of Human Genetics, 2006, v. 14, n. 12, p. 1269, doi. 10.1038/sj.ejhg.5201691
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- Publication type:
- Article
A first locus for isolated autosomal recessive optic atrophy (ROA1) maps to chromosome 8q.
- Published in:
- 2003
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- Publication type:
- Report
Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis.
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- European Journal of Human Genetics, 2001, v. 9, n. 8, p. 561, doi. 10.1038/sj.ejhg.5200689
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- Publication type:
- Article
Spectrum of retGC1 mutations in Leber's congenital amaurosis.
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- European Journal of Human Genetics, 2000, v. 8, n. 8, p. 578, doi. 10.1038/sj.ejhg.5200503
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- Publication type:
- Article
Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies.
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- European Journal of Human Genetics, 1998, v. 6, n. 3, p. 291, doi. 10.1038/sj.ejhg.5200221
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- Publication type:
- Article
Four Unique Genetic Variants in Three Genes Account for 62.7% of Early-Onset Severe Retinal Dystrophy in Chile: Diagnostic and Therapeutic Consequences.
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- International Journal of Molecular Sciences, 2024, v. 25, n. 11, p. 6151, doi. 10.3390/ijms25116151
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- Publication type:
- Article
Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical blindness.
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- International Journal of Developmental Neuroscience, 2015, v. 47, p. 119, doi. 10.1016/j.ijdevneu.2015.04.319
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- Publication type:
- Article
First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patients.
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- Clinical Genetics, 2022, v. 101, n. 5/6, p. 494, doi. 10.1111/cge.14123
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- Publication type:
- Article
Une nouvelle forme d'amaurose congénitale de Leber Défaillance de la neuroprotection des photorécepteurs et des cellules ganglionnaires de la rétine.
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- Médecine Sciences, 2013, v. 29, n. 1, p. 26, doi. 10.1051/medsci/2013291008
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- Publication type:
- Article
Apparent segregation of null alleles ascribed to deletions of the ornithine transcarbamylase gene in congenital hyperammonaemia.
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- Prenatal Diagnosis, 1995, v. 15, n. 8, p. 757, doi. 10.1002/pd.1970150812
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- Publication type:
- Article
rs5888 Variant of SCARB1 Gene Is a Possible Susceptibility Factor for Age-Related Macular Degeneration.
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- PLoS ONE, 2009, v. 4, n. 10, p. 1, doi. 10.1371/journal.pone.0007341
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- Article
Understanding disease pleiotropy: From puzzle to solution.
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- Science Translational Medicine, 2015, v. 7, n. 291, p. 1, doi. 10.1126/scitranslmed.aac6504
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- Publication type:
- Article
Association of Missense Variants in VSX2 With a Peculiar Form of Congenital Stationary Night Blindness Affecting All Bipolar Cells.
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- 2022
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- Publication type:
- journal article
Prenatal human ocular degeneration occurs in Leber's congenital amaurosis (LCA2).
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- Journal of Gene Medicine, 2002, v. 4, n. 4, p. 390, doi. 10.1002/jgm.278
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- Publication type:
- Article
Spectrum of SPATA7 mutations in Leber congenital amaurosis and delineation of the associated phenotype.
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- Human Mutation, 2010, v. 31, n. 3, p. E1241, doi. 10.1002/humu.21203
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- Publication type:
- Article
Mutations in LCA5 are an uncommon cause of Leber congenital amaurosis (LCA) type II.
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- Human Mutation, 2007, v. 28, n. 12, p. 1245, doi. 10.1002/humu.9513
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- Publication type:
- Article
Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype.
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- Human Mutation, 2007, v. 28, n. 4, p. 416, doi. 10.1002/humu.9485
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- Publication type:
- Article
Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype-phenotype correlations and impact on genetic counseling.
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- Human Mutation, 2007, v. 28, n. 1, p. 81, doi. 10.1002/humu.20417
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- Publication type:
- Article
A novel mutation in the GUCY2D gene responsible for an early onset severe RP different from the usual GUCY2D-LCA phenotype.
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- Human Mutation, 2005, v. 25, n. 2, p. 222, doi. 10.1002/humu.9304
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- Publication type:
- Article
Leber congenital amaurosis: Comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis.
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- Human Mutation, 2004, v. 23, n. 4, p. 306, doi. 10.1002/humu.20010
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- Publication type:
- Article
Evidence of a founder effect for the RETGC1 (GUCY2D) 2943DelG mutation in Leber congenital amaurosis pedigrees of Finnish origin.
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- Human Mutation, 2002, v. 20, n. 4, p. 322, doi. 10.1002/humu.9067
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- Article
Novel intragenic deletions and point mutations of the ornithine transcarbamylase gene in congenital hyperammonemia.
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- Human Mutation, 1998, v. 11, p. S81, doi. 10.1002/humu.1380110128
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- Publication type:
- Article
Partial duplication [dup. TCAC (178)] and novel point mutations (T125M, G188R, A209V, and H302L) of the ornithine transcarbamylase gene in congenital hyperammonemia.
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- Human Mutation, 1996, v. 8, n. 1, p. 74, doi. 10.1002/(SICI)1098-1004(1996)8:1<74::AID-HUMU11>3.0.CO;2-O
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- Publication type:
- Article
ITPR1: The missing gene in miosis–ataxia syndrome?
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- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 9, p. 1, doi. 10.1002/ajmg.a.63655
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- Publication type:
- Article
Expanding the KIF4A‐associated phenotype.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3728, doi. 10.1002/ajmg.a.62443
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- Article
A gene for Leber's congenital amaurosis maps to chromosome 17p.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 8, p. 1447
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- Article
Five novel missense mutations of the rhodopsin gene in autosomal dominant retinitis pigmentosa.
- Published in:
- Human Molecular Genetics, 1994, v. 3, n. 8, p. 1433
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- Publication type:
- Article